1 00:00:05,160 --> 00:00:07,800 >> THANK YOU FOR 2 00:00:07,800 --> 00:00:09,360 JOIN US TODAY. 3 00:00:09,360 --> 00:00:11,640 WE WELCOME YOU TO OUR 2022 4 00:00:11,640 --> 00:00:13,600 VIRTUAL RARE DISEASES DAY AT NIH. 5 00:00:13,600 --> 00:00:15,680 LIKE PLANNING EVERY YEAR 6 00:00:15,680 --> 00:00:16,960 THE COMMITTEE HAS WORKED HARD 7 00:00:16,960 --> 00:00:18,960 FOR THE MONTH MANY TO BRING YOU 8 00:00:18,960 --> 00:00:20,960 IT WAS AN EXCITING AND PACKED DAY 9 00:00:20,960 --> 00:00:21,560 AGENDA. 10 00:00:21,560 --> 00:00:23,480 MY NAME IS ALICE CHEN, I AM A 11 00:00:23,480 --> 00:00:26,040 PROGRAM OFFICER IN THE OFFICE 12 00:00:26,040 --> 00:00:27,200 RARE DISEASES RESEARCH, LOCATION 13 00:00:27,200 --> 00:00:29,760 AT THE NATIONAL CENTER FOR 14 00:00:29,760 --> 00:00:31,160 ADVANCEING TRANSLATION SCIENCE 15 00:00:31,160 --> 00:00:32,360 AT THE NATIONAL INSTITUTE 16 00:00:32,360 --> 00:00:32,560 HEALTH. 17 00:00:32,560 --> 00:00:37,160 I PRESENT IT ON MY NAME 18 00:00:37,160 --> 00:00:38,200 ALSO PLANNING FOR CO-LEADS 19 00:00:38,200 --> 00:00:41,840 PART OF A RARE OFFICE 20 00:00:41,840 --> 00:00:42,240 DISEASE RESEARCH. 21 00:00:42,240 --> 00:00:43,360 WE STARTED WITH AN 22 00:00:43,360 --> 00:00:46,840 OVERVIEW OF HOW YOU CAN STILL 23 00:00:46,840 --> 00:00:47,760 ENGAGE WITH SPEAKER, 24 00:00:47,760 --> 00:00:52,680 EXHIBITION, POSTER WRITER AND 25 00:00:52,680 --> 00:00:53,440 BE PRESENT ALL DAY. 26 00:00:53,440 --> 00:00:56,080 PAY ATTENTION TO YOUR FOUR WAYS 27 00:00:56,080 --> 00:00:57,480 YOU CAN SEND A QUESTION, YOUR FIRST 28 00:00:57,480 --> 00:01:00,160 YOU CAN USE THE QandA FEATURE IN THIS 29 00:01:00,160 --> 00:01:02,960 NEW YEAR EVENT APPLICATION, I WILL 30 00:01:02,960 --> 00:01:04,240 SHARE MORE DETAILS ABOUT THIS 31 00:01:04,240 --> 00:01:04,560 IMMEDIATELY. 32 00:01:04,560 --> 00:01:07,200 SECONDLY, YOU CAN USE SEND 33 00:01:07,200 --> 00:01:08,480 IMMEDIATE FEEDBACK BUTTON ON 34 00:01:08,480 --> 00:01:09,960 BOTTOM OF THE SCREEN. 35 00:01:09,960 --> 00:01:12,960 THIRD, YOU CAN DIRECTLY E-MAIL 36 00:01:12,960 --> 00:01:16,960 OUR OFFICE IS AT ORDR@NIH.GOV. 37 00:01:16,960 --> 00:01:19,680 FINALLY, YOU CAN TWEET US 38 00:01:19,680 --> 00:01:26,320 QUESTIONS USING THE EVENT 39 00:01:26,320 --> 00:01:27,600 FENCE SIGN 40 00:01:27,600 --> 00:01:28,680 SEND YOUR QUESTIONS EARLY, THERE 41 00:01:28,680 --> 00:01:30,360 IT COULD BE A MINUTE DELAY. 42 00:01:30,360 --> 00:01:31,680 I'LL SPEND A FEW MINUTES 43 00:01:31,680 --> 00:01:34,480 SHARE MORE ABOUT OUR NEW EVENT 44 00:01:34,480 --> 00:01:34,640 APPLICATION. 45 00:01:34,640 --> 00:01:37,080 ALL OF YOU THIS TIME 46 00:01:37,080 --> 00:01:38,160 WATCH VIA VIDEOCAST HERE, 47 00:01:38,160 --> 00:01:39,480 BUT BY USING YOUR APPLICATION 48 00:01:39,480 --> 00:01:41,960 CAN STILL SEND 49 00:01:41,960 --> 00:01:43,440 QUESTIONS, CONNECT WITH 50 00:01:43,440 --> 00:01:45,600 SPEAKERS, AND OTHER ATTENDERS, 51 00:01:45,600 --> 00:01:46,960 ENGAGE WITH EXHIBITIONS, POSTERS 52 00:01:46,960 --> 00:01:49,000 AUTHOR, VIEW ART AND MORE. 53 00:01:49,000 --> 00:01:51,120 THERE ARE SEVERAL OPTIONS FOR 54 00:01:51,120 --> 00:01:51,560 FIND IT. 55 00:01:51,560 --> 00:01:56,240 IF YOU WANT TO ACCESS 56 00:01:56,240 --> 00:01:59,160 APPLICATION VIA WEB BROWSER CLICK ABOVE 57 00:01:59,160 --> 00:02:02,760 YELLOW LINK IN VIDEOCAST 58 00:02:02,760 --> 00:02:03,160 DESCRIPTION BELOW. 59 00:02:03,160 --> 00:02:05,520 CHROME, FIREFOX AND EDGE ARE 60 00:02:05,520 --> 00:02:05,960 RECOMMENDED BROWSERS. 61 00:02:05,960 --> 00:02:07,760 IF YOU WANT TO USE A 62 00:02:07,760 --> 00:02:09,640 MOBILE DEVICE, OPEN YOUR MOBILE 63 00:02:09,640 --> 00:02:15,800 APP STORE AND DOWNLOAD THE BLUE ONE 64 00:02:15,800 --> 00:02:20,440 WHOVA APP, OR SCAN QR CODE 65 00:02:20,440 --> 00:02:21,600 SEEN HERE. 66 00:02:21,600 --> 00:02:23,760 NEXT LOG IN USING THE SAME 67 00:02:23,760 --> 00:02:26,040 THE E-MAIL ADDRESS YOU USE 68 00:02:26,040 --> 00:02:26,360 REGISTRATION. 69 00:02:26,360 --> 00:02:29,440 IF YOU HAVE NOT REGISTERED BEFORE, 70 00:02:29,440 --> 00:02:32,320 USE THE REGISTER FEATURE HERE. 71 00:02:32,320 --> 00:02:33,240 AFTER YOU CREATE A PASSWORD AND 72 00:02:33,240 --> 00:02:35,160 REGISTER, YOU WILL JOIN. 73 00:02:35,160 --> 00:02:42,880 EVENT APPLICATIONS ARE OPEN FOR ONLY 74 00:02:42,880 --> 00:02:43,560 REGISTERED PARTICIPANTS. 75 00:02:43,560 --> 00:02:45,120 ONCE YOU ENTER, YOU WILL BE 76 00:02:45,120 --> 00:02:47,560 TAKEN TO THE EVENT HOME PAGE. 77 00:02:47,560 --> 00:02:49,320 I'LL WALK THROUGH SOME 78 00:02:49,320 --> 00:02:52,360 FEATURES LOCATED ON THE LEFT 79 00:02:52,360 --> 00:02:55,240 NAVIGATION MENU. 80 00:02:55,240 --> 00:02:57,360 UNDER THE AGENDA, YOU CAN EXPAND 81 00:02:57,360 --> 00:02:59,600 THIS IS TO SEE EVERY SESSION FOR THIS 82 00:02:59,600 --> 00:02:59,960 EVENTS OF THE YEAR. 83 00:02:59,960 --> 00:03:01,360 FOR EXAMPLE, THIS IS A SCREEN 84 00:03:01,360 --> 00:03:04,080 SHOOT OUR TALK NOW. 85 00:03:04,080 --> 00:03:07,080 YOU CAN ADD THEM TO MY PERSONALS 86 00:03:07,080 --> 00:03:10,040 AGENDA AND VIEW MORE DETAILS 87 00:03:10,040 --> 00:03:11,000 ABOUT THE SESSION. 88 00:03:11,000 --> 00:03:12,480 WHEN YOU VIEW THE SESSION 89 00:03:12,480 --> 00:03:13,880 DETAILS YOU WILL SEE THIS BUTTON 90 00:03:13,880 --> 00:03:15,120 TO JOIN THE STREAM. 91 00:03:15,120 --> 00:03:17,440 CLICKING ON THIS WILL GET YOU 92 00:03:17,440 --> 00:03:19,240 GO TO VIDEOCAST, BUT PAY ATTENTION A 93 00:03:19,240 --> 00:03:21,200 A SECOND BROWSER TAB WILL OPEN. 94 00:03:21,200 --> 00:03:24,000 UNFORTUNATELY, IT WILL NOT PLAY 95 00:03:24,000 --> 00:03:25,080 INSTANTLY IMPLEMENTED IN 96 00:03:25,080 --> 00:03:25,240 APPLICATION. 97 00:03:25,240 --> 00:03:27,560 BELOW THE RIGHT YOU WILL SEE IT 98 00:03:27,560 --> 00:03:28,480 QandA AND CHAT. 99 00:03:28,480 --> 00:03:30,120 THIS IS WHAT YOU CAN USE TO ASK 100 00:03:30,120 --> 00:03:31,960 ASK AND CHAT WITH OTHERS 101 00:03:31,960 --> 00:03:32,920 ABOUT THE SESSION. 102 00:03:32,920 --> 00:03:34,600 MANY OF OUR SPEAKER WILL BE 103 00:03:34,600 --> 00:03:38,000 AVAILABLE TODAY TO ANSWER YOU 104 00:03:38,000 --> 00:03:39,160 IN-APPLICATION QUESTIONS. 105 00:03:39,160 --> 00:03:41,200 WHEN YOU SCROLL TO THE BOTTOM OF THE PAGE 106 00:03:41,200 --> 00:03:42,640 YOU WILL SEE EVERY SPEAKER FOR THAT 107 00:03:42,640 --> 00:03:42,880 SESSION. 108 00:03:42,880 --> 00:03:44,760 IF YOU CLICK ON THE NAME, MORE 109 00:03:44,760 --> 00:03:46,680 INFORMATION ABOUT THE SPEAKERS 110 00:03:46,680 --> 00:03:47,560 WILL APPEAR. 111 00:03:47,560 --> 00:03:49,240 OTHER FEATURES TO NOTE ARE 112 00:03:49,240 --> 00:03:52,320 HERE'S THE ICON ON THE SIDE, YOU CAN 113 00:03:52,320 --> 00:03:53,600 BOOK SIGN SPEAKER, MESSAGE 114 00:03:53,600 --> 00:03:57,000 THEM, SET UP A VIDEO CALL. 115 00:03:57,000 --> 00:03:59,560 BACK TO THE LEFT 116 00:03:59,560 --> 00:04:01,560 NAVIGATION MENU, NEXT ITEM 117 00:04:01,560 --> 00:04:03,160 BOTTOM IS THE SPEAKER. 118 00:04:03,160 --> 00:04:05,200 THEY ARE LISTED ALPHABETICALLY 119 00:04:05,200 --> 00:04:06,800 ORDER, YOU CAN ALSO USE 120 00:04:06,800 --> 00:04:10,480 SEARCH BAR TO FIND MORE SPEAKER 121 00:04:10,480 --> 00:04:10,720 HURRY. 122 00:04:10,720 --> 00:04:13,960 FOR EVERY LU SPEAKER YOU WILL SEE 123 00:04:13,960 --> 00:04:18,120 ABILITY TO BOOKMARK, CHECK OUT 124 00:04:18,120 --> 00:04:21,600 ORDER, CONSIDER A VIDEO CALL. 125 00:04:21,600 --> 00:04:22,760 NEXT ARE THE PARTICIPANTS. 126 00:04:22,760 --> 00:04:25,160 IF YOU GO HERE, YOU CAN FIND 127 00:04:25,160 --> 00:04:27,920 OTHER PEOPLE ADJUST AND FIND 128 00:04:27,920 --> 00:04:30,560 NETWORKING OPPORTUNITIES. 129 00:04:30,560 --> 00:04:32,120 NAMES IN ALPHABETIC ORDER 130 00:04:32,120 --> 00:04:34,480 WITH A CONVENIENT SEARCH BAR FOR 131 00:04:34,480 --> 00:04:34,880 USAGE. 132 00:04:34,880 --> 00:04:38,000 COMMUNITY COUNCIL APPROVES 133 00:04:38,000 --> 00:04:38,880 ADDITIONAL ENGAGEMENT AROUND A 134 00:04:38,880 --> 00:04:39,080 TOPIC. 135 00:04:39,080 --> 00:04:41,240 EXAMPLES, SOME OF YOU HAVE 136 00:04:41,240 --> 00:04:42,680 ICE BREAKERS HAVE BEEN POSTED, AND 137 00:04:42,680 --> 00:04:44,160 THERE ARE OTHER THINGS 138 00:04:44,160 --> 00:04:46,960 CONFERENCES AND RELATED 139 00:04:46,960 --> 00:04:47,240 ARTICLES. 140 00:04:47,240 --> 00:04:49,200 YOUR MESSAGES WITH OTHERS CAN BE 141 00:04:49,200 --> 00:04:51,640 FOUND NEXT ALONG THE NAVIGATION 142 00:04:51,640 --> 00:04:56,080 MENU. 143 00:04:56,080 --> 00:04:57,960 AND WE HAVE ADDED THIS TO CREATE 144 00:04:57,960 --> 00:04:59,160 THIS IS MORE FUN. 145 00:04:59,160 --> 00:05:01,320 CHECK OUT FOR A CHANCE 146 00:05:01,320 --> 00:05:02,400 YOUR NAME WILL BE ANNOUNCED AT THE END 147 00:05:02,400 --> 00:05:03,760 TODAY. 148 00:05:03,760 --> 00:05:06,840 THE BIG ITEMS IN THE EVENT APPLICATION ARE 149 00:05:06,840 --> 00:05:08,320 VIRTUAL EXHIBITIONS AND POSTERS. 150 00:05:08,320 --> 00:05:09,960 WHEN YOU CHOOSE AN EXHIBITION FROM 151 00:05:09,960 --> 00:05:13,360 ON THE LEFT, YOU WILL SEE A LIST 152 00:05:13,360 --> 00:05:15,160 ALL BOOTS VIRTUAL 153 00:05:15,160 --> 00:05:15,440 AVAILABLE. 154 00:05:15,440 --> 00:05:20,080 IF YOU SELECT THE DROPDOWN MENU 155 00:05:20,080 --> 00:05:23,160 YOU CAN FILTER FROM THIS OR 156 00:05:23,160 --> 00:05:24,160 NIH FUNDED PROGRAM. 157 00:05:24,160 --> 00:05:26,240 OR USE THE SEARCH BAR. 158 00:05:26,240 --> 00:05:28,200 WE ENCOURAGE YOU TO CLICK 159 00:05:28,200 --> 00:05:32,360 BLUE BUTTON TO VISIT BOOTHS 160 00:05:32,360 --> 00:05:33,480 AND LEARN MORE. 161 00:05:33,480 --> 00:05:35,200 ONCE YOU ENTER, YOU WILL SEE A 162 00:05:35,200 --> 00:05:36,800 CHAT FEATURES ON THE RIGHT FOR 163 00:05:36,800 --> 00:05:40,160 YOU USE, YOU CAN ALSO SHARE 164 00:05:40,160 --> 00:05:44,160 YOUR CONTACT INFORMATION, 165 00:05:44,160 --> 00:05:46,000 CONNECT WITH BOOTH STAFF, HOURS 166 00:05:46,000 --> 00:05:50,400 SENT FOR WHEN YOU CAN SPEAK 167 00:05:50,400 --> 00:05:51,960 FOR SOMEONE TO LIVE. 168 00:05:51,960 --> 00:05:53,960 THERE IS AN OPPORTUNITY TO SEE THE VIDEO, 169 00:05:53,960 --> 00:05:55,960 HANDOUTS AND PHOTOS OR 170 00:05:55,960 --> 00:05:56,320 INFOGRAPHIC. 171 00:05:56,320 --> 00:05:57,240 AGAIN, ALL BOOTH STAFF ARE AVAILABLE 172 00:05:57,240 --> 00:06:00,960 CAN BE FOUND BELOW. 173 00:06:00,960 --> 00:06:02,720 THE LAST PART IS 174 00:06:02,720 --> 00:06:03,600 RESOURCES MENU HERE. 175 00:06:03,600 --> 00:06:05,760 WE ENCOURAGE YOU TO CLICK AROUND 176 00:06:05,760 --> 00:06:08,440 AND BECOME FAMILIAR WITH 177 00:06:08,440 --> 00:06:08,960 OPTIONS. 178 00:06:08,960 --> 00:06:10,920 IN PARTICULAR, NCATS HAS A NEW ONE 179 00:06:10,920 --> 00:06:12,880 WEBSITE OF RARE DISEASES, WHICH WE ARE 180 00:06:12,880 --> 00:06:14,240 ENCOURAGES YOU TO EXPLORE. 181 00:06:14,240 --> 00:06:18,760 THIS IS A ONE-STOP SHOP FOR 182 00:06:18,760 --> 00:06:19,360 PROGRAMS AND RESEARCH 183 00:06:19,360 --> 00:06:21,720 OPPORTUNITIES YOU WILL LISTEN TO 184 00:06:21,720 --> 00:06:21,920 TODAY. 185 00:06:21,920 --> 00:06:23,640 IF YOU HAVEN'T HAD THE CHANCE YET 186 00:06:23,640 --> 00:06:26,120 CHECK OUT OUR RARE DISEASES DAYS 187 00:06:26,120 --> 00:06:27,760 HERE'S THE WEBSITE YOU CAN FIND IT 188 00:06:27,760 --> 00:06:28,000 HERE. 189 00:06:28,000 --> 00:06:29,960 ONE ITEM TO NOTE AS WE GOT IT 190 00:06:29,960 --> 00:06:32,000 THIS QUESTION EVERY YEAR, THE 191 00:06:32,000 --> 00:06:32,800 STREAM VIDEOCASTS TODAY 192 00:06:32,800 --> 00:06:34,560 EVENTS WILL BE SAVED AND ARCHIVED 193 00:06:34,560 --> 00:06:37,320 FOR YOU TO SEE AGAIN AT YOUR PLACE 194 00:06:37,320 --> 00:06:37,720 OWN SPEED. 195 00:06:37,720 --> 00:06:40,760 ACTUALLY, THE ACTUAL NOTICE WE HAVE 196 00:06:40,760 --> 00:06:43,960 ALL PAST EVENTS ARE READY 197 00:06:43,960 --> 00:06:44,720 AVAILABLE FOR YOU. 198 00:06:44,720 --> 00:06:47,560 THIS BULLET WILL TAKE YOU TO 199 00:06:47,560 --> 00:06:49,160 LAST YEAR MATERIAL. 200 00:06:49,160 --> 00:06:50,360 THIS EVENT APPLICATION WILL BE AVAILABLE 201 00:06:50,360 --> 00:06:54,240 UNTIL THE END OF MAY SO YOU CAN 202 00:06:54,240 --> 00:06:56,920 COME BACK ANY TIME. 203 00:06:56,920 --> 00:06:59,200 EXHIBITIONS ARE EVEN AVAILABLE 204 00:06:59,200 --> 00:07:01,760 OUTSIDE OF TODAY'S EVENT TIMES. 205 00:07:01,760 --> 00:07:04,640 AS I REMIND YOU EVERY YEAR 206 00:07:04,640 --> 00:07:06,680 FREELY GIVE FEEDBACK. 207 00:07:06,680 --> 00:07:08,160 YOU CAN SELECT FEEDBACK TO 208 00:07:08,160 --> 00:07:11,360 PROVIDE COMMENTS ON EACH SESSION 209 00:07:11,360 --> 00:07:12,840 ON THE AGENDA, AND ABOUT 210 00:07:12,840 --> 00:07:15,720 ALL RARE DISEASES DAY AT NIH 211 00:07:15,720 --> 00:07:17,360 EVENT OF THE YEAR. 212 00:07:17,360 --> 00:07:19,280 FINALLY, THE WHOVA GUIDE IS THERE 213 00:07:19,280 --> 00:07:21,360 BELOW, IF YOU NEED MORE 214 00:07:21,360 --> 00:07:27,040 SUPPORT AFTER VIEWING THE GUIDE 215 00:07:27,040 --> 00:07:29,480 YOU CAN SEND E-MAIL 216 00:07:29,480 --> 00:07:30,000 SUPPORT@WHOVA.COM. 217 00:07:30,000 --> 00:07:31,160 BEFORE WE JUMP IN 218 00:07:31,160 --> 00:07:35,920 APPRAISAL -- REMARKS, I WANT IT 219 00:07:35,920 --> 00:07:37,440 THANK YOU FOR JOINING US AND 220 00:07:37,440 --> 00:07:41,280 EMPHASIZE THERE IS A TEAM 221 00:07:41,280 --> 00:07:42,160 BEHIND THIS YEAR'S PLANNING 222 00:07:42,160 --> 00:07:49,800 EFFORT, MANY PEOPLE ARE REPRESENTED 223 00:07:49,800 --> 00:07:50,000 NCATS. 224 00:07:50,000 --> 00:07:54,160 MORE IN 2022 PLANNING 225 00:07:54,160 --> 00:07:59,240 THE COMMITTEE IS CLINICAL 226 00:07:59,240 --> 00:08:04,880 CENTER, NIH, NHLBI, NIAAA, 227 00:08:04,880 --> 00:08:09,800 NINDS, US FDA, CHILDREN'S INN 228 00:08:09,800 --> 00:08:13,000 HERE, THE FOUNDATION OF EVERY LIFE, 229 00:08:13,000 --> 00:08:14,120 NORD, UBC. 230 00:08:14,120 --> 00:08:17,680 TO HELP US PRODUCE THE SECOND ONE 231 00:08:17,680 --> 00:08:21,760 VIRTUAL EVENT THANK YOU TO THE 232 00:08:21,760 --> 00:08:22,600 THIS SPECIAL TECHNICAL TEAM 233 00:08:22,600 --> 00:08:25,760 KEY MEMBERS OF THE NIH EVENT 234 00:08:25,760 --> 00:08:26,680 MANAGER. 235 00:08:26,680 --> 00:08:28,360 YOU HELP MAKE IT ALL 236 00:08:28,360 --> 00:08:28,960 MAYBE. 237 00:08:28,960 --> 00:08:30,680 NOW WE HAVE A SHORT 238 00:08:30,680 --> 00:08:33,480 EVENT OVERVIEW AND 239 00:08:33,480 --> 00:08:34,240 VARIOUS ENGAGEMENT FEATURES, 240 00:08:34,240 --> 00:08:36,360 ENJOY OUR EXCELLENT RANGE 241 00:08:36,360 --> 00:08:38,880 TODAY'S SPEAKER. 242 00:08:38,880 --> 00:08:48,880 243 00:08:48,880 --> 00:08:49,480 >> THANK YOU, ALICE. 244 00:08:49,480 --> 00:08:51,000 WE HAVE SLIDES TO SHOW EVERYTHING 245 00:08:51,000 --> 00:08:52,320 PEOPLE INVOLVED. 246 00:08:52,320 --> 00:08:54,320 I WANT TO THANK YOU COMPLETELY 247 00:08:54,320 --> 00:08:55,360 TO ALL OF YOU. 248 00:08:55,360 --> 00:08:57,640 AND I WANT TO GIVE ALICE A GREAT 249 00:08:57,640 --> 00:08:59,200 SHOUT AS WELL. 250 00:08:59,200 --> 00:09:00,720 ALICE, THANK YOU FOR YOU 251 00:09:00,720 --> 00:09:02,920 LEADERSHIP AND WORK NEVER TIRED 252 00:09:02,920 --> 00:09:03,720 BRINGING THIS RICH TOGETHER 253 00:09:03,720 --> 00:09:03,960 AGENDA. 254 00:09:03,960 --> 00:09:06,040 I KNOW THIS IS A TEAM EFFORT AND 255 00:09:06,040 --> 00:09:07,800 ALL ORGANIZERS HAVE MADE IT 256 00:09:07,800 --> 00:09:09,760 RARE DISEASES DAY TODAY IN 257 00:09:09,760 --> 00:09:11,160 SHINE. 258 00:09:11,160 --> 00:09:12,560 SO THANK YOU. 259 00:09:12,560 --> 00:09:13,160 HI EVERYBODY. 260 00:09:13,160 --> 00:09:15,040 WELCOME TO RARE DISEASES DAY 261 00:09:15,040 --> 00:09:15,760 NIH. 262 00:09:15,760 --> 00:09:17,160 I'M JONI RUTTER, ACTING DIRECTOR 263 00:09:17,160 --> 00:09:20,120 NATIONAL CENTER 264 00:09:20,120 --> 00:09:20,600 IMPROVING TRANSLATIONS 265 00:09:20,600 --> 00:09:21,400 SCIENCE, NCATS. 266 00:09:21,400 --> 00:09:24,240 WITH PLEASURE I WELCOME YOU 267 00:09:24,240 --> 00:09:24,480 TODAY. 268 00:09:24,480 --> 00:09:25,520 WE ARE ONCE AGAIN IN LOVE 269 00:09:25,520 --> 00:09:27,560 IN A VIRTUAL SPACE FOR THIS 270 00:09:27,560 --> 00:09:28,280 EVENTS. 271 00:09:28,280 --> 00:09:29,440 OF COURSE, WE ARE BETTER TO SEE 272 00:09:29,440 --> 00:09:31,200 ALL OF YOU PERSONALLY BUT US 273 00:09:31,200 --> 00:09:33,160 GLAD WE WERE ABLE TO MEET SAFELY AND 274 00:09:33,160 --> 00:09:36,560 PROVIDING A FORUM FOR PATIENTS AND 275 00:09:36,560 --> 00:09:37,120 ADVOCATES AND RESEARCHERS, 276 00:09:37,120 --> 00:09:38,880 POLICY MAKERS AND THE COMMUNITY 277 00:09:38,880 --> 00:09:41,360 LEARN ABOUT RARE AND DISEASES 278 00:09:41,360 --> 00:09:42,760 THE IMPACT ON THE PATIENT'S LIFE. 279 00:09:42,760 --> 00:09:44,280 WE HAVE PEOPLE JOINING US FROM 280 00:09:44,280 --> 00:09:45,720 THE ENTIRE COUNTRY AND SURROUNDINGS 281 00:09:45,720 --> 00:09:46,160 WORLD. 282 00:09:46,160 --> 00:09:48,320 THANK YOU SO MUCH FOR PROVIDING. 283 00:09:48,320 --> 00:09:50,280 NOW BEFORE WE START, I WANT TO 284 00:09:50,280 --> 00:09:51,520 ACKNOWLEDGE AND GIVE THANK YOU 285 00:09:51,520 --> 00:09:53,720 ALSO TO THREE OTHER PEOPLE WHO 286 00:09:53,720 --> 00:09:55,080 MAKE AN EXTRAORDINARY CONTRIBUTION TO 287 00:09:55,080 --> 00:09:57,880 RARE DISEASES RESEARCH AT NIH. 288 00:09:57,880 --> 00:09:59,200 FIRST, FRANCIS COLLINS. 289 00:09:59,200 --> 00:10:01,480 DURING THE TERM OF SERVICE AS NI 290 00:10:01,480 --> 00:10:02,560 THE DIRECTOR HE PRESSED RARE 291 00:10:02,560 --> 00:10:04,480 DISEASES AND THE PATIENT'S VOICE 292 00:10:04,480 --> 00:10:06,200 AND FAMILY, AND NOW HERE 293 00:10:06,200 --> 00:10:10,360 HER LAB WILL CONTINUE ITS WORK 294 00:10:10,360 --> 00:10:10,880 PROGERIA. 295 00:10:10,880 --> 00:10:12,160 SECOND IS CHRIS AUSTIN, WHO 296 00:10:12,160 --> 00:10:14,120 RETURNED LAST APRIL, AFTER 297 00:10:14,120 --> 00:10:16,840 TEN YEARS AS FIRST DIRECTOR 298 00:10:16,840 --> 00:10:17,120 FROM NCATS. 299 00:10:17,120 --> 00:10:18,920 CHRIS WAS INSTRUMENTAL IN THE CREATION 300 00:10:18,920 --> 00:10:21,360 A TOP RARE DISEASES RESEARCH 301 00:10:21,360 --> 00:10:22,280 PRIORITIES FOR NCATS. 302 00:10:22,280 --> 00:10:27,880 AND LAST BUT NOT LAST, ANNE 303 00:10:27,880 --> 00:10:29,360 PARISER WHO RETIRED AFTER 304 00:10:29,360 --> 00:10:31,720 LEADING A RARE OFFICE 305 00:10:31,720 --> 00:10:32,720 DISEASE RESEARCH. 306 00:10:32,720 --> 00:10:34,360 I HAVE ASKED P.J. BROOKS TO ENTER 307 00:10:34,360 --> 00:10:35,600 DIRECTOR'S ROLE FOR 308 00:10:35,600 --> 00:10:35,760 NOW. 309 00:10:35,760 --> 00:10:38,280 YOU KNOW HE WON'T MISS. 310 00:10:38,280 --> 00:10:41,240 SO THANK YOU TO DR. COLLIN, DR. 311 00:10:41,240 --> 00:10:42,560 AUSTIN, AND DR. PARISER FOR 312 00:10:42,560 --> 00:10:44,760 YOUR CONTRIBUTION TO RARE 313 00:10:44,760 --> 00:10:45,760 DISEASES AND MAKE DISEASES RARE 314 00:10:45,760 --> 00:10:47,960 THE DAY IS THE MAIN EVENT, AND 315 00:10:47,960 --> 00:10:50,840 VITAL RARE DISEASES RESEARCH 316 00:10:50,840 --> 00:10:51,880 PART OF NCATS. 317 00:10:51,880 --> 00:10:55,400 AT NCATS, OUR MISSION IS TO CHANGE 318 00:10:55,400 --> 00:10:56,800 BIOLOGICAL OBSERVATIONS TO 319 00:10:56,800 --> 00:10:58,120 HEALTH SOLUTIONS. 320 00:10:58,120 --> 00:11:00,840 AND NOW, ONLY ABOUT 1 IS OUT 321 00:11:00,840 --> 00:11:02,720 EVERY 10 PROMISING ADVANCES 322 00:11:02,720 --> 00:11:03,960 BECOME A NEW THERAPY. 323 00:11:03,960 --> 00:11:05,800 IT WILL TAKE 15 TO 30 YEARS FOR 324 00:11:05,800 --> 00:11:07,040 BRING IT TO THE MARKET. 325 00:11:07,040 --> 00:11:10,920 WE NEED TO CHANGE THOSE NUMBERS. 326 00:11:10,920 --> 00:11:13,360 OUR NCATS APPROACH ADDRESS 327 00:11:13,360 --> 00:11:14,600 CRIMPS LONG LASTING IN THERAPY 328 00:11:14,600 --> 00:11:15,560 DEVELOPMENT PIPELINE. 329 00:11:15,560 --> 00:11:17,760 OUR VISION IS TO BRING MORE 330 00:11:17,760 --> 00:11:20,320 CARE TO EVERYONE, MORE 331 00:11:20,320 --> 00:11:20,800 HURRY. 332 00:11:20,800 --> 00:11:23,240 AND RARE DISEASES ARE A BIG PART 333 00:11:23,240 --> 00:11:25,040 FROM THAT VISION. 334 00:11:25,040 --> 00:11:27,160 THERE IS URGENCY HERE, YOU WILL 335 00:11:27,160 --> 00:11:28,360 HEAR TODAY ABOUT THE HUGE 336 00:11:28,360 --> 00:11:31,160 BURDEN OF RARE DISEASES IN 337 00:11:31,160 --> 00:11:33,520 OUR COMMUNITY. 338 00:11:33,520 --> 00:11:35,160 TO PATIENTS, FAMILIES, 339 00:11:35,160 --> 00:11:36,880 SUPERVISORS, IN OUR HEALTH CARE 340 00:11:36,880 --> 00:11:38,000 SYSTEM. 341 00:11:38,000 --> 00:11:39,640 RARE DISEASES ARE COLLECTIVE 342 00:11:39,640 --> 00:11:42,080 COMMON AND EXPENSIVE, BUT ALSO 343 00:11:42,080 --> 00:11:42,360 ACTIONABLE. 344 00:11:42,360 --> 00:11:45,680 IT STARTS WITH DIAGNOSIS. 345 00:11:45,680 --> 00:11:47,080 GET THE CORRECT DIAGNOSIS 346 00:11:47,080 --> 00:11:50,720 EARLY, EASY, QUICK SPA 347 00:11:50,720 --> 00:11:52,720 THIS IS A CRITICAL STEP TO BE TAKEN 348 00:11:52,720 --> 00:11:54,520 BEST CARE. 349 00:11:54,520 --> 00:11:56,440 FOR RARE DISEASES, THIS 350 00:11:56,440 --> 00:11:57,760 ODYSSEY DIAGNOSTICS TAKE AN 351 00:11:57,760 --> 00:12:00,360 AVERAGE ABOUT 7 YEARS. 352 00:12:00,360 --> 00:12:02,640 THIS MAY INCLUDE MISDIAGNOSIS AND 353 00:12:02,640 --> 00:12:04,400 RARE OR INAPPROPRIATELY ASSOCIATED 354 00:12:04,400 --> 00:12:06,360 UNNECESSARY TESTS AND PROCEDURES 355 00:12:06,360 --> 00:12:07,760 OR BE LATE AND MISS 356 00:12:07,760 --> 00:12:13,280 OPPORTUNITIES TO BE EFFECTIVE 357 00:12:13,280 --> 00:12:13,640 INTERVENTION. 358 00:12:13,640 --> 00:12:14,560 NCATS AIMS TO SHORTEN MORE 359 00:12:14,560 --> 00:12:15,440 FROM HALF. 360 00:12:15,440 --> 00:12:19,520 BECAUSE IT'S A RARE DISEASE 361 00:12:19,520 --> 00:12:20,840 RARELY, THEIR TREATMENT IS NOT NECESSARY 362 00:12:20,840 --> 00:12:21,920 BE RARE TOO. 363 00:12:21,920 --> 00:12:24,760 ONLY 5% OF DISEASES HAVE A 364 00:12:24,760 --> 00:12:25,440 TREATMENT. 365 00:12:25,440 --> 00:12:27,640 WHICH HAS BEEN STAGNANT FOR 366 00:12:27,640 --> 00:12:27,880 DECADES. 367 00:12:27,880 --> 00:12:29,360 LET'S WORK TO INCREASE THAT NUMBER 368 00:12:29,360 --> 00:12:32,440 SO IN THE NEXT DECADE WE CAN SAY 369 00:12:32,440 --> 00:12:35,080 25% OF RARE DISEASES HAVE A 370 00:12:35,080 --> 00:12:36,880 MAINTENANCE IN PIPELINES. 371 00:12:36,880 --> 00:12:38,680 WITH OVER 7,000 RARE 372 00:12:38,680 --> 00:12:39,960 DISEASE, AND 30 MILLION PEOPLE 373 00:12:39,960 --> 00:12:43,160 WHO HAS ONE, IT'S SCARY 374 00:12:43,160 --> 00:12:43,880 ASSIGNMENT. 375 00:12:43,880 --> 00:12:46,520 WE NEED BETTER TECHNOLOGY 376 00:12:46,520 --> 00:12:47,680 PREDICTION OF TOXICITY AND EFFICACY, 377 00:12:47,680 --> 00:12:48,920 WE NEED A THERAPEUTIC APPROACH 378 00:12:48,920 --> 00:12:52,000 WHICH WORKS FOR SOME DISEASES. 379 00:12:52,000 --> 00:12:53,560 WE NEED TO BE INNOVATIVE AND INCLUSIVE 380 00:12:53,560 --> 00:12:55,360 CLINICAL TRIALS. 381 00:12:55,360 --> 00:12:57,080 AND PREPARED REGULATIONS 382 00:12:57,080 --> 00:12:59,200 PROCESSES THAT CAN ACCOMMODATE A 383 00:12:59,200 --> 00:13:01,560 TEST DESIGN ABOUT ONE 384 00:13:01,560 --> 00:13:02,720 INDIVIDUAL. 385 00:13:02,720 --> 00:13:04,640 WE NEED DATA-BASED TOOLS FOR 386 00:13:04,640 --> 00:13:06,760 FACILITATES RESEARCH, AND SPEED 387 00:13:06,760 --> 00:13:09,200 DIAGNOSIS OF RARE DISEASES. 388 00:13:09,200 --> 00:13:10,480 AND TELEHEALTH AND TELEMEDICINE 389 00:13:10,480 --> 00:13:11,160 APPROACH TO TREATTING PEOPLE WHERE 390 00:13:11,160 --> 00:13:12,560 THEY. 391 00:13:12,560 --> 00:13:13,560 WE CAN DO THIS. 392 00:13:13,560 --> 00:13:15,840 THERE'S A NEW INITIATIVE 393 00:13:15,840 --> 00:13:18,160 STARTING IT WILL 394 00:13:18,160 --> 00:13:19,760 NEW DEMOCRATIZATION AND DISSEMINATION 395 00:13:19,760 --> 00:13:21,720 TREATMENT APPROACHES, WHERE 396 00:13:21,720 --> 00:13:23,160 AT THIS TIME THERE IS LITTLE TO NOT 397 00:13:23,160 --> 00:13:24,400 COMMERCIAL INTERESTS. 398 00:13:24,400 --> 00:13:27,320 PROGRAMS LIKE PLATFORMS 399 00:13:27,320 --> 00:13:30,960 VECTOR AND GENE THERAPY APPROACHES 400 00:13:30,960 --> 00:13:31,680 BESPOKE GENE THERAPY CONSORTIUM, 401 00:13:31,680 --> 00:13:33,160 SOMATIC CELL GENE EDITING 402 00:13:33,160 --> 00:13:34,920 INITIATIVES ARE ALL PROGRAMS THAT ARE 403 00:13:34,920 --> 00:13:38,000 READY FOR TRANSFORMATION 404 00:13:38,000 --> 00:13:38,800 PIPELINE FOR GEN TARGET 405 00:13:38,800 --> 00:13:39,080 THERAPY. 406 00:13:39,080 --> 00:13:42,160 AND BY DESTROYING 407 00:13:42,160 --> 00:13:43,800 PRECLINICAL AND BARRIERS 408 00:13:43,800 --> 00:13:44,960 CLINICAL MANUFACTURING, AND 409 00:13:44,960 --> 00:13:46,920 INTERNAL REGULATORY BARRIERS 410 00:13:46,920 --> 00:13:48,320 PIPELINE, THIS APPROACH WILL 411 00:13:48,320 --> 00:13:50,400 BRINGING HOPE TO THE RARE 80% 412 00:13:50,400 --> 00:13:53,040 DISEASES CAUSED BY A 413 00:13:53,040 --> 00:13:54,280 SINGLE GENE MUTATION. 414 00:13:54,280 --> 00:13:57,080 TO TREAT RARE DISEASES 415 00:13:57,080 --> 00:13:58,080 LANDSCAPE FOREVER, WE SHOULD TOO 416 00:13:58,080 --> 00:14:00,360 PULL IN THE SAME DIRECTION. 417 00:14:00,360 --> 00:14:02,720 WE NEED TO MAKE SURE OF EVERYTHING 418 00:14:02,720 --> 00:14:05,160 SOCIETY AND ALL OF SOCIETY 419 00:14:05,160 --> 00:14:05,400 BENEFITS. 420 00:14:05,400 --> 00:14:07,880 WE CAN'T JUST STOP DEVELOPING 421 00:14:07,880 --> 00:14:08,840 DIAGNOSTICS AND THERAPEUTICS. 422 00:14:08,840 --> 00:14:11,320 WE ALSO MUST RAISE AWARENESS 423 00:14:11,320 --> 00:14:13,560 AND ADDRESSING Rare Inequalities 424 00:14:13,560 --> 00:14:14,480 DISEASES IN RURAL 425 00:14:14,480 --> 00:14:15,920 SOCIETY AND IN SOCIETY 426 00:14:15,920 --> 00:14:17,760 COLOR. 427 00:14:17,760 --> 00:14:19,360 IT MEANS ACCESS TO NEWBORN BABIES 428 00:14:19,360 --> 00:14:21,040 FILTERING, MAINTENANCE, ACCESS TO 429 00:14:21,040 --> 00:14:23,800 MAINTENANCE, AND EVERYTHING 430 00:14:23,800 --> 00:14:24,360 WITH THAT. 431 00:14:24,360 --> 00:14:26,760 THIS IS AN ITEM IN OUR NCATS 432 00:14:26,760 --> 00:14:28,080 A TO-DO LIST WHERE WE FOCUS 433 00:14:28,080 --> 00:14:29,040 RARE DISEASES EVERY DAY. 434 00:14:29,040 --> 00:14:31,000 IF YOU WANT TO LEARN MORE, 435 00:14:31,000 --> 00:14:34,560 CHECK OUT OUR RARE NEW NCATS 436 00:14:34,560 --> 00:14:38,800 DISEASES GOAL PAGE, 437 00:14:38,800 --> 00:14:39,640 NCATS.NIH.GOV/RARE DISEASES. 438 00:14:39,640 --> 00:14:42,360 AND HERE YOU CAN FIND 439 00:14:42,360 --> 00:14:43,360 INFORMATION ABOUT THE RESEARCH 440 00:14:43,360 --> 00:14:45,480 ADVANTAGES, RESOURCES, CLINICAL 441 00:14:45,480 --> 00:14:46,400 TRIALS, FUNDING OPPORTUNITIES, 442 00:14:46,400 --> 00:14:50,040 EVEN STAFF TO CONNECT WITH. 443 00:14:50,040 --> 00:14:53,120 IN SPEAKING TO YOU TODAY AS 444 00:14:53,120 --> 00:14:54,080 IMPORTANT NCATS DIRECTOR, ME TOO 445 00:14:54,080 --> 00:14:56,000 PERSONALLY A PART OF THE RARE 446 00:14:56,000 --> 00:14:58,040 DISEASE COMMUNITY, I AM IN 447 00:14:58,040 --> 00:15:00,960 AUDIENCE WITH YOU MY MOTHER HAD 448 00:15:00,960 --> 00:15:03,720 A RARE DISEASE CALLED PRIMARY 449 00:15:03,720 --> 00:15:04,200 MYELOFIBROSIS. 450 00:15:04,200 --> 00:15:05,360 HER NAME IS DOROTHY. 451 00:15:05,360 --> 00:15:08,240 AS YOU GUESSED, WE ARE FROM A 452 00:15:08,240 --> 00:15:09,720 SMALL TOWN IN KANSAS. 453 00:15:09,720 --> 00:15:12,200 IT TOOK SHE ABOUT 15 YEARS TO MAKE IT 454 00:15:12,200 --> 00:15:12,920 DIAGNOSED. 455 00:15:12,920 --> 00:15:16,960 AND ONCE HE WAS THERE, THERE WAS NOTHING 456 00:15:16,960 --> 00:15:17,360 ANY MAINTENANCE. 457 00:15:17,360 --> 00:15:17,960 FINALLY THERE'S A CLINIC 458 00:15:17,960 --> 00:15:19,840 TRIAL OPTIONS BUT REQUIRED 459 00:15:19,840 --> 00:15:26,960 HE TRAVEL 800 MILES BY CAR, 460 00:15:26,960 --> 00:15:29,120 OR OFTEN 8.5 HOURS BY PLANE 461 00:15:29,120 --> 00:15:29,960 AND ALONE. 462 00:15:29,960 --> 00:15:31,920 HE CAN'T ABLE TO PAY THAT 463 00:15:31,920 --> 00:15:32,120 PRICE. 464 00:15:32,120 --> 00:15:33,200 ODYSSEY, WAIT FOR TREATMENT 465 00:15:33,200 --> 00:15:34,840 OPTION, JUST TO HAVE THAT 466 00:15:34,840 --> 00:15:36,840 OPTIONS ARE HARD TO ACCESS, 467 00:15:36,840 --> 00:15:38,560 THIS IS A TRUE STORY. 468 00:15:38,560 --> 00:15:40,840 ONE THAT I HAVE SHARED WITH MANY 469 00:15:40,840 --> 00:15:42,160 FROM YOU HERE TODAY. 470 00:15:42,160 --> 00:15:43,640 SO I AM DEDICATED TO FINDING 471 00:15:43,640 --> 00:15:45,760 WAYS TO IMPROVE ALL OF THIS 472 00:15:45,760 --> 00:15:46,040 FACTOR. 473 00:15:46,040 --> 00:15:48,280 AND I KNOW I'M NOT ALONE IN THAT 474 00:15:48,280 --> 00:15:48,760 SENTIMENTS. 475 00:15:48,760 --> 00:15:50,600 THAT'S WHAT GIVES ME HOPE. 476 00:15:50,600 --> 00:15:52,320 SO THANK YOU SO MUCH FOR BEING 477 00:15:52,320 --> 00:15:54,960 PART OF RARE DISEASES DAY AT NIH. 478 00:15:54,960 --> 00:15:57,400 LET'S MAKE A DIFFERENCE 479 00:15:57,400 --> 00:15:57,680 TOGETHER. 480 00:15:57,680 --> 00:15:59,760 I WANT TO INVITE TO THE STAGE 481 00:15:59,760 --> 00:16:03,040 MY COLLEAGUE, DR. JIM GILMAN, 482 00:16:03,040 --> 00:16:07,160 CHIEF EXECUTIVE OFFICER OF NIH 483 00:16:07,160 --> 00:16:08,840 CLINICAL CENTER, AMAZING 484 00:16:08,840 --> 00:16:09,760 PARTNER FOR RARE DISEASES 485 00:16:09,760 --> 00:16:15,200 RESEARCH AT NIH. 486 00:16:15,200 --> 00:16:19,600 487 00:16:19,600 --> 00:16:19,960 >> WELCOME. 488 00:16:19,960 --> 00:16:22,440 I WANT TO START WITH THANK YOU 489 00:16:22,440 --> 00:16:24,240 SPONSORS OF TODAY'S MEETING AS 490 00:16:24,240 --> 00:16:26,760 CLINICAL CENTER JOINED WITH 491 00:16:26,760 --> 00:16:29,920 NATIONAL CENTER FOR PROGRESS 492 00:16:29,920 --> 00:16:30,960 TRANSLATIONAL SCIENCES, NCATS, 493 00:16:30,960 --> 00:16:32,760 OFFICE OF RARE DISEASES RESEARCH 494 00:16:32,760 --> 00:16:34,280 TOGETHER WITH MANY OTHER PARTNERS 495 00:16:34,280 --> 00:16:36,840 ORGANIZATION IN PROVIDING THIS 496 00:16:36,840 --> 00:16:37,040 EVENTS. 497 00:16:37,040 --> 00:16:38,360 THIS INCLUDES NATIONAL 498 00:16:38,360 --> 00:16:39,160 CANCER INSTITUTE, NATIONAL 499 00:16:39,160 --> 00:16:40,840 INSTITUTE OF HEART, LUNGS AND BLOOD, 500 00:16:40,840 --> 00:16:43,720 NATIONAL INSTITUTE OF ALCOHOL 501 00:16:43,720 --> 00:16:45,000 ABUSE AND ALCOHOLISM, NATIONAL 502 00:16:45,000 --> 00:16:46,880 NEUROLOGICAL INSTITUTE 503 00:16:46,880 --> 00:16:49,920 DISORDERS AND STROKES, WHICH ARE RARE 504 00:16:49,920 --> 00:16:50,920 CLINICAL RESEARCH OF DISEASES 505 00:16:50,920 --> 00:16:52,160 PATIENT NETWORK COALITION 506 00:16:52,160 --> 00:16:54,760 ADVOCACY GROUPS, FOOD AND 507 00:16:54,760 --> 00:16:57,920 ADMINISTRATION OF MEDICATION, CHILD 508 00:16:57,920 --> 00:16:59,760 INN AT NIH, EVERY LIFE FOUNDATION 509 00:16:59,760 --> 00:17:01,960 FOR RARE DISEASES, NATIONAL 510 00:17:01,960 --> 00:17:04,240 ORGANIZATIONS FOR RARE DISORDERS, 511 00:17:04,240 --> 00:17:05,920 AND UNITED BIOSOURCE LLC. 512 00:17:05,920 --> 00:17:08,640 THIS IS OUR SECOND GO-ROUND, USA 513 00:17:08,640 --> 00:17:09,760 VIRTUAL RARE DISEASES DAY. 514 00:17:09,760 --> 00:17:10,960 FOR YEARS CLINICAL CENTER 515 00:17:10,960 --> 00:17:12,360 IT IS A RARE HOUSE 516 00:17:12,360 --> 00:17:14,920 DISEASE DAY ON CAMPUS. 517 00:17:14,920 --> 00:17:19,200 THAT moment felt a little bitter 518 00:17:19,200 --> 00:17:20,760 MASUR'S EXTRAORDINARY RARE DISEASES DAY 519 00:17:20,760 --> 00:17:22,400 AUDITORIUM AND GO TO HERE 520 00:17:22,400 --> 00:17:23,360 CONFERENCE CENTER A FEW YEARS 521 00:17:23,360 --> 00:17:23,880 BACK. 522 00:17:23,880 --> 00:17:25,680 NOW WITH OUR VIRTUAL EVENT 523 00:17:25,680 --> 00:17:27,760 ABLE TO ACCOMMODATE MORE PEOPLE 524 00:17:27,760 --> 00:17:29,680 FROM EVER EVEN THOUGH 525 00:17:29,680 --> 00:17:31,160 CHALLENGING CIRCUMSTANCES. 526 00:17:31,160 --> 00:17:32,760 I WILL MISS TOURING PARTICIPANTS 527 00:17:32,760 --> 00:17:34,400 AROUND THE HOSPITAL DURING US LUNCH 528 00:17:34,400 --> 00:17:36,040 WE DID THIS IN PAST YEARS. 529 00:17:36,040 --> 00:17:37,480 BUT PLEASE BE CONVINCED 530 00:17:37,480 --> 00:17:39,240 SAFE CLINIC CENTER 531 00:17:39,240 --> 00:17:41,360 DO YOUR RESEARCH AND 532 00:17:41,360 --> 00:17:43,160 PATIENT CARE MISSION, EVEN 533 00:17:43,160 --> 00:17:44,760 THROUGH THE PANDEMIC. 534 00:17:44,760 --> 00:17:45,400 AMAZING RESEARCH JOB 535 00:17:45,400 --> 00:17:47,560 IN A CLINICAL CENTER LIKE 536 00:17:47,560 --> 00:17:50,760 Dr. TIFT AND DR. BEVANS WILL 537 00:17:50,760 --> 00:17:52,160 FOLLOW TODAY'S STAGE. 538 00:17:52,160 --> 00:17:53,760 RESEARCH IN CLINICAL CENTERS 539 00:17:53,760 --> 00:17:56,560 IT'S A TEAM EFFORT, AND WE HAVE TO 540 00:17:56,560 --> 00:17:57,760 ACKNOWLEDGE THE PRINCIPAL ROLE PLAYED BY 541 00:17:57,760 --> 00:17:59,040 RESEARCH NURSES AND OTHER TEAM 542 00:17:59,040 --> 00:17:59,280 MEMBER. 543 00:17:59,280 --> 00:18:02,360 MAYBE SOME OF YOU HAVE SEEN IT 544 00:18:02,360 --> 00:18:03,080 CLINICAL CENTER PATIENTS 545 00:18:03,080 --> 00:18:04,560 ACTIVE RECRUITMENT OFFICE IN 546 00:18:04,560 --> 00:18:05,360 TWITTER CHAT. 547 00:18:05,360 --> 00:18:07,080 IF YOU ARE NOT A PATIENT HERE, 548 00:18:07,080 --> 00:18:09,040 I WANT TO INVITE YOU 549 00:18:09,040 --> 00:18:10,520 CONSIDER EXPLORING A CLINIC 550 00:18:10,520 --> 00:18:11,080 TRIAL. 551 00:18:11,080 --> 00:18:12,920 YOU CAN FIND INFORMATION ABOUT 552 00:18:12,920 --> 00:18:14,640 CLINICAL TRIALS ON 553 00:18:14,640 --> 00:18:16,760 RARE DISEASE DAY EVENT APPLICATION, AND 554 00:18:16,760 --> 00:18:21,880 ON THE HOSPITAL WEBSITE AT 555 00:18:21,880 --> 00:18:22,280 CC.NIH.GOV. 556 00:18:22,280 --> 00:18:24,800 CLINICAL CENTER QUESTIONS 557 00:18:24,800 --> 00:18:27,160 DISCOVERY IN SAFE, 558 00:18:27,160 --> 00:18:27,920 HIGH QUALITY CARE ENVIRONMENT 559 00:18:27,920 --> 00:18:29,880 GENERALLY HOLDS THREE AREAS 560 00:18:29,880 --> 00:18:32,160 EMPHASIS, THE STUDY OF 561 00:18:32,160 --> 00:18:33,760 PATHOPHYSIOLOGY OF DISEASE, 562 00:18:33,760 --> 00:18:35,720 NEW DEVELOPMENTS 563 00:18:35,720 --> 00:18:37,800 THE FIRST THERAPY IN HUMANITY, AND 564 00:18:37,800 --> 00:18:39,240 RESEARCH DEDICATED TO RARE 565 00:18:39,240 --> 00:18:39,520 DISEASE. 566 00:18:39,520 --> 00:18:40,840 IN FOCUS ON THESE THREE AREAS 567 00:18:40,840 --> 00:18:43,120 WE TRY TO GIVE YOU HOPE 568 00:18:43,120 --> 00:18:44,520 PATIENTS AND THEIR FAMILIES. 569 00:18:44,520 --> 00:18:46,400 MORE PATIENTS WITH RARE DISEASES 570 00:18:46,400 --> 00:18:49,360 VISIBLE AT OUR HOSPITAL FROM 571 00:18:49,360 --> 00:18:50,040 ANYWHERE. 572 00:18:50,040 --> 00:18:52,640 WHY DO WE STUDY RARE DISEASES? 573 00:18:52,640 --> 00:18:55,160 FIRST OF ALL, THEY'RE NOT SO 574 00:18:55,160 --> 00:18:56,840 RARE, AROUND 7,000 TO 10,000 RARE 575 00:18:56,840 --> 00:18:58,040 DISEASES THAT CAUSE HUMAN BEINGS 576 00:18:58,040 --> 00:19:00,840 ONLY A FEW HUNDRED HAVE IT 577 00:19:00,840 --> 00:19:02,760 TREATMENT AVAILABLE IN THE U.S. 578 00:19:02,760 --> 00:19:05,000 EVERY DAY RARE DISEASES AFFECT 579 00:19:05,000 --> 00:19:11,360 LESS THAN 200,000 INDIVIDUALS, 580 00:19:11,360 --> 00:19:12,120 BUT IT AFFECTS IT 581 00:19:12,120 --> 00:19:13,160 COLLECTIVELY 30 MILLION PEOPLE 582 00:19:13,160 --> 00:19:14,640 NATIONWIDE, INCREASING EVERY DAY 583 00:19:14,640 --> 00:19:17,240 AS A GENETIC BASIS FOR GENERAL 584 00:19:17,240 --> 00:19:18,440 INTERFERENCE FOUND. 585 00:19:18,440 --> 00:19:19,880 OFTEN REVEALS COMMON DISEASES 586 00:19:19,880 --> 00:19:21,720 IT'S ACTUALLY A COLLECTION 587 00:19:21,720 --> 00:19:22,800 DIFFERENT RARE DISEASES. 588 00:19:22,800 --> 00:19:26,360 BREAST CANCER IS ONE OF THEM 589 00:19:26,360 --> 00:19:26,800 EXAMPLE. 590 00:19:26,800 --> 00:19:28,280 SECOND, AS AMERICAN RESEARCH 591 00:19:28,280 --> 00:19:30,000 HOSPITAL, CLINICAL CENTER IS 592 00:19:30,000 --> 00:19:30,800 UNIQUE READY TO CARRY 593 00:19:30,800 --> 00:19:32,560 WITH PATIENTS WITH RARE 594 00:19:32,560 --> 00:19:34,560 DISEASES FROM AROUND THE WORLD 595 00:19:34,560 --> 00:19:35,760 THE NATION, AND THE TRUE PATIENTS OF 596 00:19:35,760 --> 00:19:38,360 AROUND THE WORLD. 597 00:19:38,360 --> 00:19:40,520 WE CAN STUDY PATIENTS IN THE LONG TERM 598 00:19:40,520 --> 00:19:43,240 PERIOD OF TIME, WE ARE GOOD 599 00:19:43,240 --> 00:19:48,440 UNDERSTANDING THE DETAILS 600 00:19:48,440 --> 00:19:49,160 PATIENT DISEASES, PHENOTYPES, 601 00:19:49,160 --> 00:19:51,160 MAKES THIS PLACE UNIQUE 602 00:19:51,160 --> 00:19:52,760 LEARN RARE DISEASES. 603 00:19:52,760 --> 00:19:55,240 THIRD, OTHER THAN PROVISION 604 00:19:55,240 --> 00:19:56,760 EXPECTATIONS FOR INDIVIDUALS, LEARN 605 00:19:56,760 --> 00:19:59,120 RARE DISEASES CAN OFTEN HELP US 606 00:19:59,120 --> 00:20:00,520 UNDERSTAND MORE COMMON DISEASES 607 00:20:00,520 --> 00:20:00,800 IT. 608 00:20:00,800 --> 00:20:02,400 SOMETIMES IT LOSES FUNCTION 609 00:20:02,400 --> 00:20:04,160 ONE GENE PRODUCT AS IT LOOKS 610 00:20:04,160 --> 00:20:06,000 IN OUR NEWS RARE DISEASES 611 00:20:06,000 --> 00:20:07,160 IMPORTANT THINGS ABOUT A 612 00:20:07,160 --> 00:20:07,760 COMMON DISEASES. 613 00:20:07,760 --> 00:20:09,640 ONE OF THE FREQUENTLY TALKED ABOUT EXAMPLES 614 00:20:09,640 --> 00:20:12,040 FROM THE CLINICAL CENTER 615 00:20:12,040 --> 00:20:14,560 INVOLVING CHRONIC PATIENTS 616 00:20:14,560 --> 00:20:16,040 GRANULOMATUS DISEASE, PATIENT 617 00:20:16,040 --> 00:20:18,160 WITH CGD HAVE WHITE BLOOD CELLS 618 00:20:18,160 --> 00:20:20,440 WHICH FAILS TO MAKE IT REACTIVE 619 00:20:20,440 --> 00:20:22,360 OXYGEN PRODUCTS, THE RESULTS 620 00:20:22,360 --> 00:20:25,400 PATIENTS CAN SKIN 621 00:20:25,400 --> 00:20:26,920 LIFE THREATENING INFECTIONS. 622 00:20:26,920 --> 00:20:30,560 WE FOUND A SERIOUS MEDICAL DESPITE 623 00:20:30,560 --> 00:20:32,520 THE PROBLEM, CGD PATIENTS ARE 624 00:20:32,520 --> 00:20:34,360 PROTECTED FROM ATHEROSCLEROSIS 625 00:20:34,360 --> 00:20:35,720 ON THE CAROTID ARTERY, SUGGEST 626 00:20:35,720 --> 00:20:37,200 MISSING ENZYMES MAY BE NECESSARY 627 00:20:37,200 --> 00:20:40,920 NEW METHOD OF TREATMENT OR 628 00:20:40,920 --> 00:20:41,520 PREVENT ATHEROSCLEROSIS IN 629 00:20:41,520 --> 00:20:43,160 GENERAL POPULATION. 630 00:20:43,160 --> 00:20:51,120 THE DAY OF RARE DISEASES HAS AVAILABLE 631 00:20:51,120 --> 00:20:53,360 SCIENCE AND MEDICINE SHOULD THEM 632 00:20:53,360 --> 00:20:54,760 COVERING PEOPLE'S STORIES 633 00:20:54,760 --> 00:20:58,560 OVERCOMING RARE DISEASES, 634 00:20:58,560 --> 00:21:00,840 FAMILIES LIVING WITH RARE DISEASES 635 00:21:00,840 --> 00:21:04,120 PATIENTS, SOCIETY AND 636 00:21:04,120 --> 00:21:06,040 ADVOCACY MEMBERS 637 00:21:06,040 --> 00:21:07,040 ORGANIZATION, NARRATIVE MATTER 638 00:21:07,040 --> 00:21:10,520 AND IT'S VERY IMPORTANT THAT YOU BECOME US 639 00:21:10,520 --> 00:21:12,120 PARTNER. 640 00:21:12,120 --> 00:21:15,160 THANK YOU FOR PARTICIPATING AND 641 00:21:15,160 --> 00:21:17,360 BECOME A PARTNER WITH NIH IN 642 00:21:17,360 --> 00:21:21,720 THIS WORK IS IMPORTANT. 643 00:21:21,720 --> 00:21:28,240 644 00:21:28,240 --> 00:21:29,560 >> HELLO, EVERYONE. 645 00:21:29,560 --> 00:21:32,320 WELCOME TO RARE DISEASE DAY 646 00:21:32,320 --> 00:21:32,880 2022. 647 00:21:32,880 --> 00:21:34,880 I am honored to be here today 648 00:21:34,880 --> 00:21:38,280 HELPING YOU SHINE A RARE LIGHT 649 00:21:38,280 --> 00:21:38,560 DISEASE. 650 00:21:38,560 --> 00:21:40,960 AND FOR THE NEXT 15 MINUTES, FOR 651 00:21:40,960 --> 00:21:46,080 SHINE THE LIGHT ON THE GUARD 652 00:21:46,080 --> 00:21:48,680 INDIVIDUALS WITH RARE DISEASES. 653 00:21:48,680 --> 00:21:50,520 JOURNEY WITH RARE DISEASES 654 00:21:50,520 --> 00:21:52,760 CAN BE UNIQUE FOR EACH 655 00:21:52,760 --> 00:21:54,840 INDIVIDUAL, AND CAN HAVE SEVERAL 656 00:21:54,840 --> 00:22:02,040 A LOT OF VERY COMMON ELEMENTS 657 00:22:02,040 --> 00:22:02,360 EXPERIENCE. 658 00:22:02,360 --> 00:22:03,560 CLEARLY, IMPACT OF RARE DISEASE 659 00:22:03,560 --> 00:22:04,640 300 MILLION PEOPLE AROUND THE WORLD. 660 00:22:04,640 --> 00:22:09,320 30 MILLION OF THEM HERE IN 661 00:22:09,320 --> 00:22:09,600 US OWN. 662 00:22:09,600 --> 00:22:10,800 MANY RARE DISEASES 663 00:22:10,800 --> 00:22:14,440 RELATED TO A LONG TIME 664 00:22:14,440 --> 00:22:17,040 FOR DIAGNOSIS, AND MANY MORE 665 00:22:17,040 --> 00:22:19,160 CHRONIC IN NATURE WITH ELEMENTS 666 00:22:19,160 --> 00:22:20,920 WHICH EVEN THOUGH IT IS MANAGED MAY ALWAYS 667 00:22:20,920 --> 00:22:25,520 BE A PART OF SOMEONE'S LIFE. 668 00:22:25,520 --> 00:22:27,720 OTHER COMONALITIES ARE VERY RARE 669 00:22:27,720 --> 00:22:29,320 MORE DISEASE 670 00:22:29,320 --> 00:22:31,960 INDIVIDUALS WITH DISEASES. 671 00:22:31,960 --> 00:22:33,680 THEY INFLUENCE MANY OTHER PEOPLE, 672 00:22:33,680 --> 00:22:35,360 INCLUDING FAMILY MEMBERS, OFTEN 673 00:22:35,360 --> 00:22:38,200 PARENTS, WHO SERVE AS CAREGIVERS 674 00:22:38,200 --> 00:22:39,400 FOR THIS INDIVIDUAL. 675 00:22:39,400 --> 00:22:42,840 THIS IS WHAT A NURSERY IS NOT 676 00:22:42,840 --> 00:22:45,200 PROFESSIONALLY PAID, THEY 677 00:22:45,200 --> 00:22:46,560 NOT SPECIFICALLY TRAINED. 678 00:22:46,560 --> 00:22:49,320 THEY GIVE THEMSELVES 679 00:22:49,320 --> 00:22:50,320 NO CONDITIONS TO THEM 680 00:22:50,320 --> 00:22:53,360 LOVE MAKING A DIFFERENCE 681 00:22:53,360 --> 00:22:53,960 THEIR LIVES. 682 00:22:53,960 --> 00:22:56,160 NOW, THERE ARE MANY RARE THINGS 683 00:22:56,160 --> 00:22:57,320 SICK BUT I JUST WANT IT 684 00:22:57,320 --> 00:22:59,240 CENTER US WITH STARTING 685 00:22:59,240 --> 00:23:03,160 CONVERSATION WITH ONE. 686 00:23:03,160 --> 00:23:06,240 THAT'S POMPE DISEASE, THE 687 00:23:06,240 --> 00:23:08,760 METABOLIC DISORDERS ARE ALSO REFERRED TO AS 688 00:23:08,760 --> 00:23:12,160 GLYCOGEN STORAGE DISORDERS. 689 00:23:12,160 --> 00:23:13,360 THIS AFFECTS 1 IN 40,000 690 00:23:13,360 --> 00:23:17,480 INDIVIDUALS IN THE UNITED STATES 691 00:23:17,480 --> 00:23:18,280 OWN. 692 00:23:18,280 --> 00:23:19,400 IT IS THE RESULT OF PATHOLOGY 693 00:23:19,400 --> 00:23:23,160 MUTATION IN THE GAA GENE, YANG 694 00:23:23,160 --> 00:23:26,160 RESPONSIBLE FOR PRODUCING 695 00:23:26,160 --> 00:23:28,280 ENZYMES THAT HELP TAKE 696 00:23:28,280 --> 00:23:29,520 Glycogen AND CONVERTED TO GLUCOSE, 697 00:23:29,520 --> 00:23:33,000 WHICH IS A SOURCE OF ENERGY FOR 698 00:23:33,000 --> 00:23:34,560 BODY. 699 00:23:34,560 --> 00:23:39,040 ORIGINAL FROM -- CONSIDERED AN 700 00:23:39,040 --> 00:23:39,640 AUTONOMOUS RECESSIVE DISORDER, 701 00:23:39,640 --> 00:23:42,240 MEANING TWO INDIVIDUALS WHO 702 00:23:42,240 --> 00:23:46,120 THERE ARE CARRIERS, WHEN THEY MAKE IT 703 00:23:46,120 --> 00:23:47,760 THEIR DESCENDANTS, EACH OF THEIR DESCENDANTS HAVE 704 00:23:47,760 --> 00:23:49,320 25% CHANCE OF BEING EXPOSED BY 705 00:23:49,320 --> 00:23:50,560 THAT DISEASE, THOUGH 706 00:23:50,560 --> 00:23:54,120 PARENTS HAVE NO 707 00:23:54,120 --> 00:23:55,080 DISEASE. 708 00:23:55,080 --> 00:23:55,560 THEY'RE JUST HOSTS. 709 00:23:55,560 --> 00:23:59,560 THERE ARE TWO TYPES OR TWO 710 00:23:59,560 --> 00:24:01,320 THE FORM, WHICH STARTED AS A BABY, 711 00:24:01,320 --> 00:24:03,320 OTHERS ARE LATER IN LIFE 712 00:24:03,320 --> 00:24:05,000 USUALLY AFTER 12 MONTHS. 713 00:24:05,000 --> 00:24:07,560 THIS CAN INVOLVE MANY DIFFERENT THINGS 714 00:24:07,560 --> 00:24:10,920 BODY PARTS, HEART AS 715 00:24:10,920 --> 00:24:13,080 AND MANY MUSCLES ARE CREATED 716 00:24:13,080 --> 00:24:14,840 SIGNIFICANT WEAKNESSES INCLUDE 717 00:24:14,840 --> 00:24:17,160 RESPIRATORY MUSCLES 718 00:24:17,160 --> 00:24:17,600 SYSTEM. 719 00:24:17,600 --> 00:24:20,000 IN 2006, THERE WAS LIGHT 720 00:24:20,000 --> 00:24:22,360 SHINE ON PUMPKIN DISEASE 721 00:24:22,360 --> 00:24:24,400 FDA APPROVES THE SPECIFIC 722 00:24:24,400 --> 00:24:26,560 TREATMENT, THE ONLY TREATMENT, 723 00:24:26,560 --> 00:24:28,400 WHICH IS AN ENZYME SUBSTITUTE 724 00:24:28,400 --> 00:24:30,560 EACH THERAPY PROVIDED 725 00:24:30,560 --> 00:24:33,280 ANOTHER WEEK THROUGH IV UNTIL 726 00:24:33,280 --> 00:24:34,960 INDIVIDUALS WITH THIS DISEASE. 727 00:24:34,960 --> 00:24:39,040 AND WITH THAT, THEN FOLLOWED 728 00:24:39,040 --> 00:24:40,320 NEWBORN EXAMINATION, WHEN IT ENTERS 729 00:24:40,320 --> 00:24:43,880 20 COUNTRIES PLUS DISTRICTS 730 00:24:43,880 --> 00:24:45,360 COLUMBIA FOR POMPE DISEASE 731 00:24:45,360 --> 00:24:46,360 AFTER BIRTH. 732 00:24:46,360 --> 00:24:48,200 ANOTHER WAY TO TELL THIS STORY 733 00:24:48,200 --> 00:24:52,160 THIS IS TO INTRODUCE YOU TO LENA, ME 734 00:24:52,160 --> 00:24:53,680 Grandson, born in July 735 00:24:53,680 --> 00:24:57,720 2019, HERE IN THE COUNTRY 736 00:24:57,720 --> 00:24:58,880 MARYLAND, WHICH DOES 737 00:24:58,880 --> 00:25:02,040 NEWBORN EXAMINATION, ONE MONTH 738 00:25:02,040 --> 00:25:03,200 BEFORE HE WAS BORN. 739 00:25:03,200 --> 00:25:06,560 I ALSO WANT TO INTRODUCE YOU 740 00:25:06,560 --> 00:25:06,960 TO HIS SUPERVISOR. 741 00:25:06,960 --> 00:25:09,760 THIS IS HER MOTHER, MY DAUGHTER, 742 00:25:09,760 --> 00:25:12,760 WHO IS THE PRIMARY SUPERVISOR? 743 00:25:12,760 --> 00:25:13,120 LENA. 744 00:25:13,120 --> 00:25:13,960 THIS IS JUST ONE EXPERIENCE 745 00:25:13,960 --> 00:25:15,760 WHERE THEY ARE IN THE HOSPITAL, 746 00:25:15,760 --> 00:25:18,240 AND MUST SEE THE SUNRISE MOMENT 747 00:25:18,240 --> 00:25:20,120 THEY ARE IN KIDS LIKE THAT 748 00:25:20,120 --> 00:25:22,960 COME IN THE MORNING WHEN LENA 749 00:25:22,960 --> 00:25:24,680 ACCEPTED FOR ADDITION 750 00:25:24,680 --> 00:25:24,880 CARE. 751 00:25:24,880 --> 00:25:26,400 THIS IS THE POP-POP, MY HUSBAND, 752 00:25:26,400 --> 00:25:27,760 WHO SPEND EVERY TUESDAY TOGETHER 753 00:25:27,760 --> 00:25:28,120 HE. 754 00:25:28,120 --> 00:25:29,720 AND ONE TUESDAY EVERY 755 00:25:29,720 --> 00:25:31,600 THE OTHER MONTH IS THE TREATMENT 756 00:25:31,600 --> 00:25:36,840 TUESDAY WE CALL WHERE HE IS 757 00:25:36,840 --> 00:25:42,240 IS -- HER INJECTION AT THE SO PORT 758 00:25:42,240 --> 00:25:42,880 HE CAN RECEIVE ENZYMES 759 00:25:42,880 --> 00:25:44,920 SUBSTITUTE, SHE SAT WITH HIM. 760 00:25:44,920 --> 00:25:46,240 THERE WAS HER FATHER, ALEX, WHO WAS IN 761 00:25:46,240 --> 00:25:48,200 THIS SPECIAL DAY HAS BEEN MADE 762 00:25:48,200 --> 00:25:50,640 SURE HE FEELS LIKE ANYONE ELSE 763 00:25:50,640 --> 00:25:52,480 SON, NOT ONE THAT SHOULD 764 00:25:52,480 --> 00:25:54,360 UNIQUE IN A SPECIAL WAY. 765 00:25:54,360 --> 00:25:56,760 BUT KIDS ARE JUST HAVING FUN 766 00:25:56,760 --> 00:25:58,320 HIS DOG IN THE SNOW WHICH MEAN 767 00:25:58,320 --> 00:26:02,320 A LOT FOR ALL OF US. 768 00:26:02,320 --> 00:26:04,240 SO NOW LET'S SHINE A LOT ON EVERYTHING 769 00:26:04,240 --> 00:26:05,760 FROM THIS SUPERVISOR, YOU ALL 770 00:26:05,760 --> 00:26:07,000 OUT THERE WHO'S WATCHING 771 00:26:07,000 --> 00:26:08,920 JUST A FEW MINUTES BEFORE YOU 772 00:26:08,920 --> 00:26:11,440 BACK TO SHINE THE LIGHT 773 00:26:11,440 --> 00:26:14,120 ALL RESEARCH UPDATES FOR 774 00:26:14,120 --> 00:26:15,160 RARE DISEASES TODAY. 775 00:26:15,160 --> 00:26:16,960 PEOPLE CARE ABOUT RARE 776 00:26:16,960 --> 00:26:20,160 THE DISEASE IS AS UNIQUE 777 00:26:20,160 --> 00:26:20,560 ILLNESS ITSELF. 778 00:26:20,560 --> 00:26:22,680 THERE ARE DIFFERENT LEVELS 779 00:26:22,680 --> 00:26:24,760 TREATMENT THAT AN INDIVIDUAL MAY NEED. 780 00:26:24,760 --> 00:26:26,480 THERE MAY BE A TREATMENT. 781 00:26:26,480 --> 00:26:27,440 THERE MAY BE NO TREATMENT 782 00:26:27,440 --> 00:26:28,760 AVAILABLE NOW. 783 00:26:28,760 --> 00:26:30,040 MAYBE YOU'RE THE ONE 784 00:26:30,040 --> 00:26:32,520 SUPERVISOR OR YOU MAY HAVE A TEAM 785 00:26:32,520 --> 00:26:33,240 AROUND YOU. 786 00:26:33,240 --> 00:26:34,880 THERE ARE OTHER THINGS YOU CAN 787 00:26:34,880 --> 00:26:36,400 COMPETE FOR THAT CARE, 788 00:26:36,400 --> 00:26:38,600 WHAT IS OTHER CHILD CARE 789 00:26:38,600 --> 00:26:39,960 OR OLDER FAMILY MEMBERS 790 00:26:39,960 --> 00:26:42,160 LIVE IN THE SAME HOUSE. 791 00:26:42,160 --> 00:26:45,480 THERE ARE MANY AND ROLES 792 00:26:45,480 --> 00:26:46,680 RESPONSIBILITIES ASSOCIATED WITH 793 00:26:46,680 --> 00:26:47,960 THIS SPECIAL ROLE 794 00:26:47,960 --> 00:26:48,680 INDIVIDUAL SUPERVISION WITH 795 00:26:48,680 --> 00:26:49,160 RARE DISEASES. 796 00:26:49,160 --> 00:26:53,280 AND YOU MAY OR NOT WORK 797 00:26:53,280 --> 00:26:53,520 WORKS. 798 00:26:53,520 --> 00:26:54,600 EVERY SITUATION IS DIFFERENT. 799 00:26:54,600 --> 00:26:55,840 OF COURSE, SUPERVISOR 800 00:26:55,840 --> 00:26:57,400 YOURSELF MAY HAVE PROBLEMS WITH 801 00:26:57,400 --> 00:27:01,640 THEIR HEALTH IS ALSO IN NEED 802 00:27:01,640 --> 00:27:01,920 ATTENTION. 803 00:27:01,920 --> 00:27:03,360 WELL, ANY EXPERIENCE IS POSSIBLE 804 00:27:03,360 --> 00:27:06,240 BE UNIQUE FOR EVERY SUPERVISOR AND 805 00:27:06,240 --> 00:27:06,760 RELATED PATIENTS. 806 00:27:06,760 --> 00:27:09,560 LET THE GENERAL THING IS SUPERVISION 807 00:27:09,560 --> 00:27:10,960 IT IS A CHRONIC STRESSOR. 808 00:27:10,960 --> 00:27:15,360 THIS IS COMPLEX AND COMPLETE 809 00:27:15,360 --> 00:27:18,160 EXPERIENCE INCLUDED 810 00:27:18,160 --> 00:27:18,880 MULTIPLE COMPETING PRIORITIES. 811 00:27:18,880 --> 00:27:20,120 THERE ARE OFTEN SIGNS AND 812 00:27:20,120 --> 00:27:22,360 SYMPTOMS THAT ARE PRESENT FROM THIS STRESS 813 00:27:22,360 --> 00:27:24,920 WHICH MAY INCLUDE ANXIETY, 814 00:27:24,920 --> 00:27:28,560 DEPRESSION, WORRY, FEELINGS 815 00:27:28,560 --> 00:27:29,080 ART. 816 00:27:29,080 --> 00:27:32,040 OFTEN, CARERS ARE NEEDED 817 00:27:32,040 --> 00:27:32,720 LIFESTYLE MODIFICATIONS AND RESTRICTIONS 818 00:27:32,720 --> 00:27:34,080 AMAZING ACTIVITIES TO DO 819 00:27:34,080 --> 00:27:37,920 CARE FOR YOUR LOVED ONES. 820 00:27:37,920 --> 00:27:40,280 AND THERE ARE OFTEN MANY 821 00:27:40,280 --> 00:27:42,640 POSSIBLE HEALTH RELATED PROBLEMS 822 00:27:42,640 --> 00:27:44,360 PRESENT YOURSELF, WHAT IT IS 823 00:27:44,360 --> 00:27:45,640 FATIGUE OR DIFFICULTY SLEEPING 824 00:27:45,640 --> 00:27:48,960 WHAT CAN BE DONE FOR THEM 825 00:27:48,960 --> 00:27:50,320 SUPERVISOR. 826 00:27:50,320 --> 00:27:52,960 AND MANY OF THESE CREATE CHANGE 827 00:27:52,960 --> 00:27:55,160 IN OUR BODY THAT CAN AFFECT US 828 00:27:55,160 --> 00:27:56,680 THE IMMUNE SYSTEM, AS WELL AS OURS 829 00:27:56,680 --> 00:27:57,600 HEART. 830 00:27:57,600 --> 00:27:58,960 AND THIS IS A STUDY -- AREA 831 00:27:58,960 --> 00:28:01,560 WHICH HAVE BEEN PURCHASED FURTHER AND 832 00:28:01,560 --> 00:28:04,000 TRY MORE TO UNDERSTAND WHAT 833 00:28:04,000 --> 00:28:06,280 THESE CHRONIC STRESSORS ARE PREVAILING 834 00:28:06,280 --> 00:28:09,560 THE INDIVIDUAL AND THE WHOLE 835 00:28:09,560 --> 00:28:09,760 HEALTH. 836 00:28:09,760 --> 00:28:12,920 SO WE KNOW THIS EXPOSURE 837 00:28:12,920 --> 00:28:14,560 PARENTING STRESSORS ARE ALSO POSSIBLE 838 00:28:14,560 --> 00:28:16,200 IMPACT A PERSON'S QUALITY OF LIFE. 839 00:28:16,200 --> 00:28:17,880 AND FINDINGS ON THE SLIDES 840 00:28:17,880 --> 00:28:19,720 RICE FROM THE STUDIES THAT HAVE BEEN CONDUCTED 841 00:28:19,720 --> 00:28:23,760 IN PARENTS OF CHILDREN WITH TERM 842 00:28:23,760 --> 00:28:24,360 DISEASE. 843 00:28:24,360 --> 00:28:26,240 WE SAW THE OLD MAN 844 00:28:26,240 --> 00:28:27,520 INDIVIDUALS WITH RARE DISEASES 845 00:28:27,520 --> 00:28:32,560 WILL HAVE A QUALITY OF LIFE 846 00:28:32,560 --> 00:28:35,040 IS A LITTLE LOWER THAN 847 00:28:35,040 --> 00:28:36,360 NOT AFFECTED BY RARE DISEASES. 848 00:28:36,360 --> 00:28:39,080 WE ALSO KNOW FROM THIS RESEARCH 849 00:28:39,080 --> 00:28:40,840 THAT'S THE PSYCHOSOCIAL FIELD 850 00:28:40,840 --> 00:28:42,600 MORE QUALITY OF LIFE 851 00:28:42,600 --> 00:28:43,480 EXPOSED TO THIS GUY 852 00:28:43,480 --> 00:28:45,920 FROM PHYSICAL QUALITY OF LIFE. 853 00:28:45,920 --> 00:28:47,440 AND YOU CAN SEE IT HERE 854 00:28:47,440 --> 00:28:50,400 THE SLIDES ARE ALSO LIST 855 00:28:50,400 --> 00:28:51,800 PREDICTOR, WHAT IF 856 00:28:51,800 --> 00:28:53,800 TODAY MAY HAVE AN IMPACT ON YOU 857 00:28:53,800 --> 00:28:55,160 MORE SUPERVISOR QUALITY OF LIFE 858 00:28:55,160 --> 00:28:58,000 FROM IF NOT TODAY 859 00:28:58,000 --> 00:29:01,400 PART OF THE PARENTING JOURNEY. 860 00:29:01,400 --> 00:29:03,480 SO IN SUMMARY, CARE 861 00:29:03,480 --> 00:29:05,040 OTHER PEOPLE, NO MATTER WHAT 862 00:29:05,040 --> 00:29:07,760 SO MUCH YOU LOVE THEM, HARD. 863 00:29:07,760 --> 00:29:09,960 AND YES, THERE ARE A LOT OF POSITIVES 864 00:29:09,960 --> 00:29:12,720 ASPECTS OF NURSING TOWARDS OUR PEOPLE 865 00:29:12,720 --> 00:29:13,560 LOVE, FINDING MEANING, AND BEING 866 00:29:13,560 --> 00:29:15,080 CONNECT WITH THEM IN OUR WAY 867 00:29:15,080 --> 00:29:16,760 MAYBE THERE'S NOT EVERYTHING YET 868 00:29:16,760 --> 00:29:18,960 VERY PART OF THE JOURNEY 869 00:29:18,960 --> 00:29:19,720 ALSO. 870 00:29:19,720 --> 00:29:21,720 BUT I'M HERE TO MAKE SURE OF THAT 871 00:29:21,720 --> 00:29:24,640 YOU UNDERSTAND TODAY THAT 872 00:29:24,640 --> 00:29:27,280 BALANCE IS AN IMPORTANT PART OF 873 00:29:27,280 --> 00:29:28,760 BUILD YOUR RESILIENCE 874 00:29:28,760 --> 00:29:32,840 YOU CAN BE THERE FOR THE PEOPLE YOU LOVE. 875 00:29:32,840 --> 00:29:35,560 SO SELF CARE IS VERY CRITICAL 876 00:29:35,560 --> 00:29:35,960 IMPORTANT. 877 00:29:35,960 --> 00:29:38,360 AND MEANS NOT ONLY 878 00:29:38,360 --> 00:29:40,200 YOU CARE FOR THE PEOPLE YOU LOVE 879 00:29:40,200 --> 00:29:43,880 EVERY DAY, BUT YOU SET IT 880 00:29:43,880 --> 00:29:45,680 SPECIFIC SELF-CARE GOALS OR 881 00:29:45,680 --> 00:29:46,720 GOALS TOO. 882 00:29:46,720 --> 00:29:48,960 WHAT YOU NOTICE 883 00:29:48,960 --> 00:29:51,240 YOUR OWN AND EMOTIONAL HEALTH 884 00:29:51,240 --> 00:29:52,240 SPIRITUAL HEALTH. 885 00:29:52,240 --> 00:29:55,080 YOU WATCH YOU 886 00:29:55,080 --> 00:29:57,120 PHYSICAL HEALTH WITH NUTRITION 887 00:29:57,120 --> 00:29:58,200 AND ACTIVITIES. 888 00:29:58,200 --> 00:30:00,000 YOU MAKE SURE THAT IF 889 00:30:00,000 --> 00:30:03,080 THERE IS ANY AREA 890 00:30:03,080 --> 00:30:05,160 MEDICAL TREATMENT OR TREATMENT THAT YOU PROVIDE 891 00:30:05,160 --> 00:30:06,440 WHAT YOU DON'T UNDERSTAND, THAT 892 00:30:06,440 --> 00:30:09,360 YOU TALK TO YOUR PROVIDER AND 893 00:30:09,360 --> 00:30:14,440 LEARN AND GET PRACTICE SO YOU CAN 894 00:30:14,440 --> 00:30:16,960 BE CONFIDENT IN YOUR CARE 895 00:30:16,960 --> 00:30:17,560 PROVIDE. 896 00:30:17,560 --> 00:30:18,240 OVERALL STRESS MANAGEMENT, SINCE 897 00:30:18,240 --> 00:30:21,320 THIS IS A CHRONIC STRESSOR, THAT 898 00:30:21,320 --> 00:30:24,160 YOU WATCH YOUR LEVEL 899 00:30:24,160 --> 00:30:25,360 STRESS AND FIND THAT BALANCE, 900 00:30:25,360 --> 00:30:29,760 SO YOU CAN BE STRONG. 901 00:30:29,760 --> 00:30:31,840 SO TO HELP WITH THIS BALANCE, 902 00:30:31,840 --> 00:30:33,480 YOU ARE NOT ALONE. 903 00:30:33,480 --> 00:30:35,360 THERE ARE MANY PROFESSIONALS 904 00:30:35,360 --> 00:30:36,000 YOUR INTERVENTION 905 00:30:36,000 --> 00:30:37,560 THE PROVIDER MAY REFER YOU FOR 906 00:30:37,560 --> 00:30:40,280 WHO CAN HELP SUPPORT YOU AND 907 00:30:40,280 --> 00:30:41,040 BUILD RESILIENCE. 908 00:30:41,040 --> 00:30:42,160 INFORMATION HERE ABOUT THIS 909 00:30:42,160 --> 00:30:46,240 THE SLIDES COME FROM THAT PAPER 910 00:30:46,240 --> 00:30:48,360 REVIEWED 34 STUDIES INCLUDED 911 00:30:48,360 --> 00:30:49,760 PSYCHOSOCIAL INTERVENTIONS FOR 912 00:30:49,760 --> 00:30:51,840 INDIVIDUAL SUPERVISOR WITH 913 00:30:51,840 --> 00:30:52,360 RARE DISEASES. 914 00:30:52,360 --> 00:30:54,440 AND YOU CAN SEE THERE ARE MANY 915 00:30:54,440 --> 00:30:55,560 DIFFERENT TYPES 916 00:30:55,560 --> 00:30:56,440 INTERVENTION. 917 00:30:56,440 --> 00:30:58,520 AND MANY ARE RELATED TO 918 00:30:58,520 --> 00:31:00,200 IMPROVED RESULTS. 919 00:31:00,200 --> 00:31:01,960 REDUCES STRESS, AS WELL 920 00:31:01,960 --> 00:31:04,600 DECREASES THE OVERALL TASTE 921 00:31:04,600 --> 00:31:07,240 LOAD, AND INCREASED FEELING 922 00:31:07,240 --> 00:31:08,360 ISOLATION. 923 00:31:08,360 --> 00:31:10,600 HOWEVER, IT'S IMPORTANT TO NOTE, 924 00:31:10,600 --> 00:31:14,080 WHICH IS TO HELP OUR CARERS FIND 925 00:31:14,080 --> 00:31:16,120 AND MAINTAIN PARTICIPATION IN 926 00:31:16,120 --> 00:31:16,760 THIS SUCCESSFUL INTERVENTION, 927 00:31:16,760 --> 00:31:18,840 THEY HAVE TO BE APPROPRIATE 928 00:31:18,840 --> 00:31:22,360 ACCORDING TO THAT NEED 929 00:31:22,360 --> 00:31:24,640 SUPERVISOR, OR ITS SUPERVISOR, 930 00:31:24,640 --> 00:31:28,240 AND ACCESSIBLE. 931 00:31:28,240 --> 00:31:30,240 THERE ARE ADDITIONS EVERY DAY 932 00:31:30,240 --> 00:31:31,320 INTERVENTION TO SUPPORT 933 00:31:31,320 --> 00:31:31,560 BALANCE. 934 00:31:31,560 --> 00:31:33,920 AND I JUST WANT TO TAKE A MOMENT OF TIME 935 00:31:33,920 --> 00:31:37,800 TO START THIS SLIDE BY SAYING 936 00:31:37,800 --> 00:31:39,520 PERMISSION IS GRANTED, TO ALL 937 00:31:39,520 --> 00:31:41,960 YOU'RE A WATCHMAN OUT THERE, FOR 938 00:31:41,960 --> 00:31:44,120 Take care of yourself. 939 00:31:44,120 --> 00:31:45,680 THE SUPERVISOR WILL NOT PROVIDE 940 00:31:45,680 --> 00:31:46,760 PERMISSION TO TAKE YOUR OWN 941 00:31:46,760 --> 00:31:49,280 REGULAR SELF-CARE 942 00:31:49,280 --> 00:31:49,480 BASIC. 943 00:31:49,480 --> 00:31:52,760 SO I'M HERE TODAY TO MAKE A 944 00:31:52,760 --> 00:31:54,400 UNIVERSAL STATEMENT 945 00:31:54,400 --> 00:31:56,120 PERMISSION FOR ALL SUPERVISORS, 946 00:31:56,120 --> 00:31:58,840 FROM THOSE WITH RARE DISEASES, TO 947 00:31:58,840 --> 00:32:00,600 PARTICIPATE IN THESE DAILY 948 00:32:00,600 --> 00:32:02,880 SELF-CARE ACTIVITIES, SO 949 00:32:02,880 --> 00:32:07,160 YOU CAN MAINTAIN AND DEVELOP YOU 950 00:32:07,160 --> 00:32:07,920 RESILIENCE. 951 00:32:07,920 --> 00:32:09,440 LOOKING FOR SUPPORT JUST FOR YOU, SO 952 00:32:09,440 --> 00:32:10,760 THAT YOU CAN SHARE 953 00:32:10,760 --> 00:32:14,480 FEELINGS, CAN BE VERY HELPING. 954 00:32:14,480 --> 00:32:16,120 IMPROVE COMMUNICATION 955 00:32:16,120 --> 00:32:18,520 STRATEGY WITH YOUR FAMILY, 956 00:32:18,520 --> 00:32:21,000 FRIENDS, AND PROVIDERS. 957 00:32:21,000 --> 00:32:22,360 DELEGATE TO FRIENDS AND 958 00:32:22,360 --> 00:32:24,520 FAMILY, IN ANY AREA YOU CAN 959 00:32:24,520 --> 00:32:27,600 LET GO, SO YOU CAN FIND 960 00:32:27,600 --> 00:32:30,000 IT'S TIME FOR YOU TO PRACTICE, TO EARN 961 00:32:30,000 --> 00:32:31,120 THAT 30 MINUTES -- THAT 962 00:32:31,120 --> 00:32:33,120 30 MINUTE WALK TO NATURE, 963 00:32:33,120 --> 00:32:36,480 WHICH IS KNOWN TO HELP US REDUCE 964 00:32:36,480 --> 00:32:37,320 STRESS. 965 00:32:37,320 --> 00:32:39,960 FIND TIME FOR YOUR SPIRITUAL 966 00:32:39,960 --> 00:32:41,080 GROWTH, AND MOST IMPORTANTLY, 967 00:32:41,080 --> 00:32:45,200 FIND TIME TO BE CAREFUL. 968 00:32:45,200 --> 00:32:46,320 COMING EVERY DAY, 969 00:32:46,320 --> 00:32:47,720 EVERY MOMENT OF EVERY DAY, FOR 970 00:32:47,720 --> 00:32:49,800 TO THE BEST OF YOUR CAPABILITY, SO 971 00:32:49,800 --> 00:32:53,960 THAT YOU CAN EXPERIENCE THAT STRESS 972 00:32:53,960 --> 00:32:57,760 MANAGED. 973 00:32:57,760 --> 00:32:59,200 THIS CLINICAL CENTER TOO 974 00:32:59,200 --> 00:33:00,840 VERY CARE ABOUT HOW YOU ARE 975 00:33:00,840 --> 00:33:01,720 DO. 976 00:33:01,720 --> 00:33:03,160 AND THERE ARE MANY RESOURCES 977 00:33:03,160 --> 00:33:05,320 HERE AT THE CLINIC 978 00:33:05,320 --> 00:33:05,560 CENTER. 979 00:33:05,560 --> 00:33:07,160 THERE IS THE WEBSITE, THE ADDRESS 980 00:33:07,160 --> 00:33:08,880 REGISTERED THERE. 981 00:33:08,880 --> 00:33:11,680 YOU CAN GO AND LINK TO THEM 982 00:33:11,680 --> 00:33:12,960 RESOURCES, AND THEY HAVE 983 00:33:12,960 --> 00:33:13,960 CLINICAL CENTER RESOURCES AS 984 00:33:13,960 --> 00:33:16,280 AS WELL AS FEDERAL AND NON-FEDERAL 985 00:33:16,280 --> 00:33:18,000 RESOURCES YOU MAY FIND 986 00:33:18,000 --> 00:33:21,280 HELP. 987 00:33:21,280 --> 00:33:25,840 SO IN SUMMARY, AS A SUPERVISOR 988 00:33:25,840 --> 00:33:28,520 YOU ARE A VERY, KEY MEMBER 989 00:33:28,520 --> 00:33:30,080 IMPORTANT MEMBERS OF THE TEAM, 990 00:33:30,080 --> 00:33:32,360 AND SO YOU MUST STAY STRONG, 991 00:33:32,360 --> 00:33:34,600 SO YOU APPEAR WITH YOU 992 00:33:34,600 --> 00:33:38,440 BEST TO HELP THOSE YOU LOVE. 993 00:33:38,440 --> 00:33:41,960 SO LIKE YOU PRIORITIZE YOU 994 00:33:41,960 --> 00:33:43,360 SELF CARE, REMEMBER The acronym 995 00:33:43,360 --> 00:33:45,240 TO REST. 996 00:33:45,240 --> 00:33:48,160 TO RELAX, EAT HEALTHY, AND STAY 997 00:33:48,160 --> 00:33:48,400 ON. 998 00:33:48,400 --> 00:33:51,720 SLEEP, AND WATCH 999 00:33:51,720 --> 00:33:51,960 YOURSELF. 1000 00:33:51,960 --> 00:33:53,080 AND NATIONAL HEART, LUNG AND 1001 00:33:53,080 --> 00:33:54,800 THE BLOODY INSTITUTE HAS MANY, MANY 1002 00:33:54,800 --> 00:33:56,960 RESOURCES ON THEIR WEBSITE AS 1003 00:33:56,960 --> 00:33:59,960 GOOD, TO HELP SLEEP, AND 1004 00:33:59,960 --> 00:34:01,360 HEALTHY HEART STRATEGY. 1005 00:34:01,360 --> 00:34:03,360 AND BESIDES THAT, I JUST WANT TO 1006 00:34:03,360 --> 00:34:05,560 TAKE A TIME TO CONTACT US 1007 00:34:05,560 --> 00:34:06,920 PROVIDERS WHO CARE AND 1008 00:34:06,920 --> 00:34:09,880 GET INVOLVED WITH OUR FAMILY 1009 00:34:09,880 --> 00:34:10,160 SUPERVISOR. 1010 00:34:10,160 --> 00:34:12,080 NOT VERY MUCH 1011 00:34:12,080 --> 00:34:13,400 DEEP SPECIAL STRATEGIES 1012 00:34:13,400 --> 00:34:14,880 LITERATURE THAT HAS BEEN 1013 00:34:14,880 --> 00:34:15,480 DEVELOPED SPECIALLY FOR 1014 00:34:15,480 --> 00:34:17,760 THEIR RARE GUARD 1015 00:34:17,760 --> 00:34:18,160 DISEASE. 1016 00:34:18,160 --> 00:34:19,720 HOWEVER, THERE ARE EXTENSIVE 1017 00:34:19,720 --> 00:34:21,720 BODY OF LITERATURE ABOUT PARENTING 1018 00:34:21,720 --> 00:34:24,360 WIDER, AND MANY OF THEM 1019 00:34:24,360 --> 00:34:25,400 THE PRINCIPLE IS THE SAME. 1020 00:34:25,400 --> 00:34:27,280 AND ONE THAT I WANT TO HIGHLIGHT 1021 00:34:27,280 --> 00:34:31,760 THE PAPER OUT IN JAMA, THAT'S IT 1022 00:34:31,760 --> 00:34:33,720 ASKING, ARE YOU OKAY, JUST 1023 00:34:33,720 --> 00:34:34,480 NOT ENOUGH. 1024 00:34:34,480 --> 00:34:36,960 WE NEED TO GO IN OUR STATE 1025 00:34:36,960 --> 00:34:37,560 SUPERVISOR. 1026 00:34:37,560 --> 00:34:39,240 SHINE THE LIGHT ON THEM ANYTIME 1027 00:34:39,240 --> 00:34:43,880 WE HAVE A MEETING WITH US 1028 00:34:43,880 --> 00:34:44,160 PATIENT. 1029 00:34:44,160 --> 00:34:46,600 AND ASK SPECIFIC QUESTIONS TO 1030 00:34:46,600 --> 00:34:48,640 MAKE SURE WE UNDERSTAND, REALLY, 1031 00:34:48,640 --> 00:34:50,200 HOW THEY DO. 1032 00:34:50,200 --> 00:34:52,760 SO WITH THAT I'LL CLOSE AND 1033 00:34:52,760 --> 00:34:54,480 THANK YOU ALL FOR GIVING ME 1034 00:34:54,480 --> 00:34:56,360 THE CHANCE TO BE HERE TODAY. 1035 00:34:56,360 --> 00:34:59,560 AND I HOPE YOU CONTINUE TO ENJOY 1036 00:34:59,560 --> 00:35:01,720 TREATMENT OF RARE DISEASES 1037 00:35:01,720 --> 00:35:03,920 IN 2022. 1038 00:35:03,920 --> 00:35:04,120 WELCOME. 1039 00:35:04,120 --> 00:35:08,360 >> GOOD MORNING. 1040 00:35:08,360 --> 00:35:10,840 I'M LARRY TABAK, ACTING DIRECTOR 1041 00:35:10,840 --> 00:35:11,440 FROM HERE. 1042 00:35:11,440 --> 00:35:14,720 It is my honor to welcome you 1043 00:35:14,720 --> 00:35:19,200 RARE DISEASES DAY OF THE YEAR IN 1044 00:35:19,200 --> 00:35:19,400 NIH. 1045 00:35:19,400 --> 00:35:21,960 IT'S BEEN PROUD FOR A LONG TIME 1046 00:35:21,960 --> 00:35:24,560 RARE DISEASES SUPPORT 1047 00:35:24,560 --> 00:35:27,400 RESEARCH, AND WE'RE GLAD 1048 00:35:27,400 --> 00:35:30,800 RETURN THAT COMMITMENT TODAY 1049 00:35:30,800 --> 00:35:32,360 AND EVERY DAY. 1050 00:35:32,360 --> 00:35:33,720 PROOF OF OUR COMMITMENT CAN 1051 00:35:33,720 --> 00:35:38,240 SEEN THROUGHOUT OUR RESEARCH 1052 00:35:38,240 --> 00:35:39,480 PORTFOLIO, REFLECTED, FOR 1053 00:35:39,480 --> 00:35:46,360 EXAMPLE, IN DEPTH 1054 00:35:46,360 --> 00:35:48,880 UNDERSTAND DISEASE RESEARCH, AT 1055 00:35:48,880 --> 00:35:51,680 THESE FEET ARE MAINLY TANGIBLE 1056 00:35:51,680 --> 00:35:53,160 PROGRESS HAS BEEN MADE. 1057 00:35:53,160 --> 00:35:56,760 FOR EXAMPLE, TAKE THIS LATEST ONE 1058 00:35:56,760 --> 00:36:00,960 LAUNCHING BESPOKE GENE THERAPY 1059 00:36:00,960 --> 00:36:03,960 CONSORTIUM, BGTC, OF WHICH IT IS PART 1060 00:36:03,960 --> 00:36:09,760 ACCELERATION MEDICINE 1061 00:36:09,760 --> 00:36:12,400 PARTNERSHIP PROGRAM. 1062 00:36:12,400 --> 00:36:14,480 THIS IS PUBLIC/PRIVATE 1063 00:36:14,480 --> 00:36:17,360 PARTNERSHIP BETWEEN 11 NIH 1064 00:36:17,360 --> 00:36:19,960 INSTITUTE, CENTER, AND 1065 00:36:19,960 --> 00:36:23,480 OFFICE, FDA, TEN PHARMACY 1066 00:36:23,480 --> 00:36:30,400 COMPANY, SEVEN IS NOT FOR PROFIT. 1067 00:36:30,400 --> 00:36:31,200 AMPBGDC HAS BEEN ESTABLISHED 1068 00:36:31,200 --> 00:36:33,640 PLATFORMS AND SPEED STANDARDS 1069 00:36:33,640 --> 00:36:36,920 DEVELOPMENT AND DELIVERY 1070 00:36:36,920 --> 00:36:40,400 CUSTOMIZED OR ORDERED GENES 1071 00:36:40,400 --> 00:36:40,920 THERAPY. 1072 00:36:40,920 --> 00:36:42,720 THERAPY THAT CAN TREAT 1073 00:36:42,720 --> 00:36:45,560 MILLIONS OF PEOPLE ARE AFFECTED BY 1074 00:36:45,560 --> 00:36:47,400 RARE DISEASES, INCLUDING THOSE 1075 00:36:47,400 --> 00:36:51,360 THE DISEASE IS TOO RARE 1076 00:36:51,360 --> 00:36:53,480 COMMERCIAL INTERESTS. 1077 00:36:53,480 --> 00:36:56,160 THIS IS THE FIRST AMP INITIATIVE 1078 00:36:56,160 --> 00:36:58,760 FOCUS ON RARE DISEASES, AND 1079 00:36:58,760 --> 00:37:03,800 THE FIRST FOCUS ON A 1080 00:37:03,800 --> 00:37:04,440 THERAPEUTIC PLATFORM. 1081 00:37:04,440 --> 00:37:06,400 NIH'S COMMITMENT TO RARENESS 1082 00:37:06,400 --> 00:37:08,280 DISEASE RESEARCH TOO 1083 00:37:08,280 --> 00:37:15,000 PROVEN IN RARE DISEASES 1084 00:37:15,000 --> 00:37:15,720 CLINICAL RESEARCH NETWORK, 1085 00:37:15,720 --> 00:37:21,720 RDCRN, WHICH INVOLVES TEN 1086 00:37:21,720 --> 00:37:25,360 INSTITUTE, CENTER AND OFFICE, 1087 00:37:25,360 --> 00:37:27,840 166 PATIENT ADVOCACY GROUP, 20 1088 00:37:27,840 --> 00:37:30,200 CONSORTIA, AND SINGLE DATA 1089 00:37:30,200 --> 00:37:33,080 MANAGEMENT AND COORDINATION 1090 00:37:33,080 --> 00:37:36,960 NETWORK CENTER. 1091 00:37:36,960 --> 00:37:40,280 THROUGH THE RDCRN CONSORTIA, 1092 00:37:40,280 --> 00:37:43,320 DOCTOR-SCIENTISTS AND THEM 1093 00:37:43,320 --> 00:37:43,960 MULTI-DISCIPLINARY TEAM WORK 1094 00:37:43,960 --> 00:37:44,840 WITH THE PATIENT 1095 00:37:44,840 --> 00:37:48,160 ORGANIZATION AS ACTIVE RESEARCH 1096 00:37:48,160 --> 00:37:51,080 PARTNERS FOR LEARNING 181 RARE 1097 00:37:51,080 --> 00:37:55,480 DISEASE AT SITE THROUGHOUT 1098 00:37:55,480 --> 00:37:55,960 NATION. 1099 00:37:55,960 --> 00:37:59,080 AMONG THE DISEASES OFFERED 1100 00:37:59,080 --> 00:38:05,640 BY THE CONSORTIA IS 1101 00:38:05,640 --> 00:38:06,760 RARE RELATING TO GLYCOPROTEIN 1102 00:38:06,760 --> 00:38:07,280 DISEASE. 1103 00:38:07,280 --> 00:38:08,920 GAUCHER IS AN INHERITED DISORDER 1104 00:38:08,920 --> 00:38:12,160 WHICH CAN INFLUENCE LIFE 1105 00:38:12,160 --> 00:38:14,960 INDIVIDUALS OF ALL AGES. 1106 00:38:14,960 --> 00:38:18,440 THIS COULD BE DESTROYING. 1107 00:38:18,440 --> 00:38:19,960 LEADING PERINATAL DEADLY FORM 1108 00:38:19,960 --> 00:38:23,040 FOR BABIES ONLY A FEW SURVIVED 1109 00:38:23,040 --> 00:38:23,480 DAY. 1110 00:38:23,480 --> 00:38:26,800 GAUCHER CAN INFLUENCE MANY OF THE 1111 00:38:26,800 --> 00:38:30,400 BODY ORGANS AND TISSUES 1112 00:38:30,400 --> 00:38:32,280 INCLUDING BONES, LUNGS, BLOOD, 1113 00:38:32,280 --> 00:38:35,760 CENTRAL NERVOUS SYSTEM, EYES, 1114 00:38:35,760 --> 00:38:36,360 SKIN. 1115 00:38:36,360 --> 00:38:38,400 A LARGE SCOPE IS REQUIRED FOR ABSOLUTELY 1116 00:38:38,400 --> 00:38:42,320 GET A BETTER UNDERSTANDING 1117 00:38:42,320 --> 00:38:45,760 DISRUPTION. 1118 00:38:45,760 --> 00:38:49,120 VIA LYSOSOMAL RDCRN 1119 00:38:49,120 --> 00:38:52,000 TISSUE OF DISEASE, MULTIPLE 1120 00:38:52,000 --> 00:38:56,800 INSTITUTES INCLUDING NINDS, 1121 00:38:56,800 --> 00:39:01,280 NIDDK AND IN THE CAT -- AND 1122 00:39:01,280 --> 00:39:02,040 NCATS TO HELP UNDERSTAND 1123 00:39:02,040 --> 00:39:06,600 COMPLETELY DIFFERENT NATURE 1124 00:39:06,600 --> 00:39:08,280 TYPES OF GAUCHER DISEASE. 1125 00:39:08,280 --> 00:39:10,800 NOW, WE ALL REALIZE HOW IT'S DONE 1126 00:39:10,800 --> 00:39:13,760 THE ONGOING COVID PANDEMIC HAS BEEN 1127 00:39:13,760 --> 00:39:15,800 RESEARCH AND AFFECTED PATIENTS 1128 00:39:15,800 --> 00:39:19,560 SUFFERING FROM AN EXISTING DISEASE 1129 00:39:19,560 --> 00:39:20,880 NOT DIRECTLY RELATED to COVID. 1130 00:39:20,880 --> 00:39:24,560 I WANT TO ASSURE YOU THAT 1131 00:39:24,560 --> 00:39:27,160 CONTINUE TO ANOTHER ADDRESS 1132 00:39:27,160 --> 00:39:29,040 PRIORITIES AND DISEASES FOR 1133 00:39:29,040 --> 00:39:30,800 PATIENTS IN NEED, INCLUDING 1134 00:39:30,800 --> 00:39:35,440 COURSE OF THOSE WHO HAVE RARE DISEASES. 1135 00:39:35,440 --> 00:39:37,560 BESIDES THERE ARE MANY 1136 00:39:37,560 --> 00:39:39,640 IMPORTANT LESSONS LEARNED FROM 1137 00:39:39,640 --> 00:39:44,360 COVID, INCLUDING PROGRESS IN 1138 00:39:44,360 --> 00:39:45,440 TELEMEDICINE, REMOTE CAPTURE, 1139 00:39:45,440 --> 00:39:48,080 SHARING SCIENCE SEAMLESSLY, EVERYONE 1140 00:39:48,080 --> 00:39:49,840 WHICH PROMISES TO ACCELERATE 1141 00:39:49,840 --> 00:39:54,200 PROMISE FOR RARE AND DISEASES 1142 00:39:54,200 --> 00:39:56,600 OTHER FAMILIES. 1143 00:39:56,600 --> 00:39:57,800 PATIENTS, FAMILIES, AND 1144 00:39:57,800 --> 00:40:01,240 PRACTITIONERS SHOULD BE LONG 1145 00:40:01,240 --> 00:40:02,760 BENEFIT FROM THIS ADVANTAGE. 1146 00:40:02,760 --> 00:40:06,760 TO CLOSE I WANT TO OFFER SOME 1147 00:40:06,760 --> 00:40:09,280 THANK YOU, FIRST I WANT IT 1148 00:40:09,280 --> 00:40:14,760 THANK YOU RARE DISEASES CAUCUS 1149 00:40:14,760 --> 00:40:20,320 CO-CHAIRS, SENATOR KLOBUCHAR 1150 00:40:20,320 --> 00:40:21,320 DAN WICKER, REPRESENTATIVE 1151 00:40:21,320 --> 00:40:23,800 BUTTERFIELD AND BILIRAKIS. 1152 00:40:23,800 --> 00:40:27,960 WE APPRECIATE THEIR CONTINUATION 1153 00:40:27,960 --> 00:40:28,200 SUPPORT. 1154 00:40:28,200 --> 00:40:32,080 I WANT TO OFFER A SPECIAL 1155 00:40:32,080 --> 00:40:34,120 THANK YOU TO DR. ANNE PARISER, 1156 00:40:34,120 --> 00:40:38,760 WHO LEADS OUR RARE OFFICE 1157 00:40:38,760 --> 00:40:40,160 DISEASE RESEARCH. 1158 00:40:40,160 --> 00:40:43,440 HE RECENTLY RETIRED FROM 1159 00:40:43,440 --> 00:40:45,200 FEDERAL SERVICE, AFTER DISCHARGE 1160 00:40:45,200 --> 00:40:47,800 MUCH OF HIS CAREER WAS IN THE SECOND 1161 00:40:47,800 --> 00:40:54,920 AND FDA FOR RARE DISEASES. 1162 00:40:54,920 --> 00:40:55,920 THANK YOU, ANNE. 1163 00:40:55,920 --> 00:40:58,840 WE SEE YOU AND THANK YOU 1164 00:40:58,840 --> 00:41:02,040 ALL HELP US IMPROVE THE PUBLIC 1165 00:41:02,040 --> 00:41:03,680 AWARENESS OF RARE DISEASES. 1166 00:41:03,680 --> 00:41:06,280 I UNDERSTAND THERE ARE SOME 1167 00:41:06,280 --> 00:41:07,160 QUESTIONS THAT HAVE BEEN ASKED, 1168 00:41:07,160 --> 00:41:09,800 SO I WANT TO TAKE A JUST 1169 00:41:09,800 --> 00:41:11,480 A FEW MINUTES, I PROMISE 1170 00:41:11,480 --> 00:41:13,560 KEEP US ON TIME, BUT I WANT TO 1171 00:41:13,560 --> 00:41:14,960 TAKE A FEW MINUTES FOR JUST 1172 00:41:14,960 --> 00:41:18,120 ANSWER SOME OF THEM. 1173 00:41:18,120 --> 00:41:19,440 ONE OF THE QUESTIONS I HAVE 1174 00:41:19,440 --> 00:41:28,200 KNOW IT'S ON MANY PEOPLE'S MIND 1175 00:41:28,200 --> 00:41:31,440 WHAT PROGRESS HAS BEEN MADE 1176 00:41:31,440 --> 00:41:32,840 FIND A PERMANENT DIRECTOR ON 1177 00:41:32,840 --> 00:41:35,600 NIH. 1178 00:41:35,600 --> 00:41:41,840 AS YOU KNOW, DR. INSURE STEP 1179 00:41:41,840 --> 00:41:45,240 DOWN AT THE END OF DECEMBER LAST YEAR. 1180 00:41:45,240 --> 00:41:49,360 QUESTIONER: ASK 1181 00:41:49,360 --> 00:41:52,000 PROCESS THAT OCCUR. 1182 00:41:52,000 --> 00:41:54,520 THE DIRECTOR OF THE NIH IS A 1183 00:41:54,520 --> 00:41:58,160 APPOINTMENT OF THE PRESIDENT 1184 00:41:58,160 --> 00:42:01,080 REQUIRES SENATE CONFIRMATION. 1185 00:42:01,080 --> 00:42:02,960 AND INDIVIDUALS WILL 1186 00:42:02,960 --> 00:42:04,360 PROVIDED, INDIVIDUAL NAME 1187 00:42:04,360 --> 00:42:08,280 WILL BE GIVEN TO 1188 00:42:08,280 --> 00:42:09,360 THE PRESIDENT FOR HIS CONSIDERATIONS, 1189 00:42:09,360 --> 00:42:11,160 HE WILL OF COURSE MAKE THE FINAL 1190 00:42:11,160 --> 00:42:14,640 THE DECISION OF WHO WILL BE NOMINATED, 1191 00:42:14,640 --> 00:42:16,960 AND THEN THE INDIVIDUAL WILL 1192 00:42:16,960 --> 00:42:21,320 NEEDS TO BE CONFIRMED BY U.S. 1193 00:42:21,320 --> 00:42:21,680 SENATE. 1194 00:42:21,680 --> 00:42:24,160 QUESTIONER: ASK IF 1195 00:42:24,160 --> 00:42:25,680 AM I A CANDIDATE OR NOT 1196 00:42:25,680 --> 00:42:26,760 FOR POSITION. 1197 00:42:26,760 --> 00:42:30,000 AND I CAN SHOW THAT I AM 1198 00:42:30,000 --> 00:42:30,240 NO. 1199 00:42:30,240 --> 00:42:34,360 I AM VERY PRIVILEGE TO SERVE 1200 00:42:34,360 --> 00:42:36,360 AS ACTING DIRECTOR OF THE NIH, BUT, 1201 00:42:36,360 --> 00:42:37,760 YOU KNOW, DON'T DOUBT THE PRESIDENT 1202 00:42:37,760 --> 00:42:44,320 WILL BE ABLE TO FIND AN 1203 00:42:44,320 --> 00:42:46,720 AN AMAZING INDIVIDUAL TO BE CONSIDERED 1204 00:42:46,720 --> 00:42:48,160 YOU KNOW, THE ROLE, 1205 00:42:48,160 --> 00:42:55,240 PERMANENT ROLE OF THE NIH DIRECTOR. 1206 00:42:55,240 --> 00:42:58,120 TIME FOR EACH OTHER 1207 00:42:58,120 --> 00:42:58,760 QUESTION. 1208 00:42:58,760 --> 00:43:01,440 AND THAT'S ASKING WHAT 1209 00:43:01,440 --> 00:43:03,760 THE NUMBER ONE PRIORITY IS THERE 1210 00:43:03,760 --> 00:43:04,280 2022. 1211 00:43:04,280 --> 00:43:06,680 AND I HAVE TO ADMIT, I CAN'T 1212 00:43:06,680 --> 00:43:10,280 SHORT IT TO ONE 1213 00:43:10,280 --> 00:43:10,560 PRIORITIES. 1214 00:43:10,560 --> 00:43:13,600 BUT CLEARLY, WE ARE ALL THERE 1215 00:43:13,600 --> 00:43:16,800 HERE IN PATIENT SERVICE. 1216 00:43:16,800 --> 00:43:20,760 AND ALL THE THINGS WE ARE 1217 00:43:20,760 --> 00:43:23,560 DO IT, EITHER DIRECTLY OR 1218 00:43:23,560 --> 00:43:24,880 INDIRECTLY, DESIGNED FOR 1219 00:43:24,880 --> 00:43:28,360 IMPROVING OUR LIVES 1220 00:43:28,360 --> 00:43:28,720 PATIENT. 1221 00:43:28,720 --> 00:43:33,480 WE HAVE A PRIORITY SERIES 1222 00:43:33,480 --> 00:43:35,880 FORWARD. 1223 00:43:35,880 --> 00:43:37,120 OBVIOUSLY WE ARE STILL WORKING 1224 00:43:37,120 --> 00:43:39,400 THROUGH PROBLEMS RELATED TO 1225 00:43:39,400 --> 00:43:41,040 PANDEMIC. 1226 00:43:41,040 --> 00:43:46,680 AS YOU JUST HEARD, 1227 00:43:46,680 --> 00:43:47,600 ADMINISTRATIVELY, WE WILL 1228 00:43:47,600 --> 00:43:51,120 GET READY TO WELCOME THE NEW 1229 00:43:51,120 --> 00:43:51,880 PERMANENT NIH DIRECTOR. 1230 00:43:51,880 --> 00:43:56,240 AND AS YOU KNOW, 1231 00:43:56,240 --> 00:43:59,000 STARTING WITH DR. COLLINS, NIH 1232 00:43:59,000 --> 00:44:02,560 MAKE IT A TOP PRIORITY TO ENSURE 1233 00:44:02,560 --> 00:44:07,160 THAT WE HAVE EQUITY, BOTH IN 1234 00:44:07,160 --> 00:44:08,720 TERMS OF OUR RESEARCH EFFORT, 1235 00:44:08,720 --> 00:44:11,760 BUT ALSO IN OUR CONCERNS 1236 00:44:11,760 --> 00:44:12,040 LABOR. 1237 00:44:12,040 --> 00:44:15,040 AND THAT'S SURE IT'S ALL 1238 00:44:15,040 --> 00:44:19,880 THINGS WE WILL CONTINUE 1239 00:44:19,880 --> 00:44:24,120 WORK VERY CLOSELY 1240 00:44:24,120 --> 00:44:25,000 ALL YEAR 2022. 1241 00:44:25,000 --> 00:44:28,160 I WANT TO KEEP US ALL ON TIME. 1242 00:44:28,160 --> 00:44:31,960 AND SO I WILL RETURN IT 1243 00:44:31,960 --> 00:44:34,480 NOW TO THE ORGANIZERS 1244 00:44:34,480 --> 00:44:34,720 MEETING. 1245 00:44:34,720 --> 00:44:37,880 BUT I WANT TO THANK EVERYONE 1246 00:44:37,880 --> 00:44:41,280 TO JOIN AND WATCH 1247 00:44:41,280 --> 00:44:44,960 GET THE COMPLETE READING 1248 00:44:44,960 --> 00:44:45,760 PROGRAM. 1249 00:44:45,760 --> 00:44:46,680 THANK YOU VERY MUCH. 1250 00:44:46,680 --> 00:44:47,440 >> I AM SENATOR ROGER WICKER FROM 1251 00:44:47,440 --> 00:44:48,720 MISSISSIPPI. 1252 00:44:48,720 --> 00:44:49,640 It is an honor for me to partner with him 1253 00:44:49,640 --> 00:44:51,280 YOU ARE IN THE FIGHT AGAINST RARE 1254 00:44:51,280 --> 00:44:53,400 DISEASE. 1255 00:44:53,400 --> 00:44:55,640 NOW HAVE PLAYED AN 1256 00:44:55,640 --> 00:44:57,440 AN UNIMPORTANT ROLE IN WAR 1257 00:44:57,440 --> 00:44:59,480 BRINGING HOPE TO MILLIONS 1258 00:44:59,480 --> 00:45:00,480 AMERICA. 1259 00:45:00,480 --> 00:45:03,000 BY INVESTING IN THIS WE ARE EQUIPPED 1260 00:45:03,000 --> 00:45:05,200 OUR BEST SCIENTISTS TO DEVELOP 1261 00:45:05,200 --> 00:45:07,240 POSSIBLE HEALING AND TREATMENT 1262 00:45:07,240 --> 00:45:08,600 SAVE LIVES. 1263 00:45:08,600 --> 00:45:12,480 WITH MORE THAN 25 MILLION AMERICANS 1264 00:45:12,480 --> 00:45:14,040 LIVING WITH RARE DISEASES, AND 1265 00:45:14,040 --> 00:45:14,880 350 MILLION EXPOSED WORLDWIDE, 1266 00:45:14,880 --> 00:45:18,000 IT'S IMPORTANT FOR US TO CONTINUE 1267 00:45:18,000 --> 00:45:19,280 THIS IMPORTANT JOB. 1268 00:45:19,280 --> 00:45:21,840 IN 2016, NIH SAW THE BIGGEST 1269 00:45:21,840 --> 00:45:24,120 INCREASED FUNDING IN A DECADE, 1270 00:45:24,120 --> 00:45:27,040 AND ALREADY RECEIVED 1271 00:45:27,040 --> 00:45:27,920 HUGE FUNDING EACH 1272 00:45:27,920 --> 00:45:29,040 NEXT YEAR. 1273 00:45:29,040 --> 00:45:31,320 EVERY DOLLAR IS CRITICAL FOR 1274 00:45:31,320 --> 00:45:32,600 LOOKING FOR MORE SOLUTIONS 1275 00:45:32,600 --> 00:45:34,480 FROM 7,000 RARE KINDS 1276 00:45:34,480 --> 00:45:38,520 DISEASES IN THE UNITED STATES. 1277 00:45:38,520 --> 00:45:39,840 MANY ARE DISPROPORTIONAL 1278 00:45:39,840 --> 00:45:40,880 AFFECTING CHILDREN. 1279 00:45:40,880 --> 00:45:43,120 DESPITE FOOD AND MEDICINE 1280 00:45:43,120 --> 00:45:44,400 ADMINISTRATION HAS BEEN APPROVED 1281 00:45:44,400 --> 00:45:46,640 800 MEDICINE AND PRODUCTS FOR 1282 00:45:46,640 --> 00:45:48,360 TREATMENT OF RARE DISEASES, 1283 00:45:48,360 --> 00:45:49,640 MILLIONS OF AMERICANS STILL 1284 00:45:49,640 --> 00:45:52,240 SUFFERING FROM A DISEASE THAT YOU HAVE 1285 00:45:52,240 --> 00:45:54,040 THERE ARE NO APPROVED OPTIONS FOR 1286 00:45:54,040 --> 00:45:54,280 TREATMENT. 1287 00:45:54,280 --> 00:45:56,440 AS CHIEF OF RARE DISEASES 1288 00:45:56,440 --> 00:45:59,280 CAUCUS, I HAVE INTRODUCED 1289 00:45:59,280 --> 00:46:00,960 BENEFITS OF ACTION, THIS IS CRITICAL 1290 00:46:00,960 --> 00:46:03,040 BIPARTISAN LEGISLATION WILL 1291 00:46:03,040 --> 00:46:07,880 IMPROVE THE ROLE OF THE PATIENT IN 1292 00:46:07,880 --> 00:46:12,440 DRUG APPROVAL PROCESS 1293 00:46:12,440 --> 00:46:13,280 ENSURE THE PATIENT EXPERIENCE 1294 00:46:13,280 --> 00:46:13,800 CONSIDERED. 1295 00:46:13,800 --> 00:46:18,640 THE BILL WILL WORK TO IMPROVE 1296 00:46:18,640 --> 00:46:19,320 FDA BENEFIT-RISK FRAMEWORK, 1297 00:46:19,320 --> 00:46:21,640 IMPORTANT STEPS IN MEDICATION 1298 00:46:21,640 --> 00:46:22,400 APPROVAL PROCESS. 1299 00:46:22,400 --> 00:46:24,680 I INTEND TO PRESS FORWARD 1300 00:46:24,680 --> 00:46:26,200 THIS FIGHT. 1301 00:46:26,200 --> 00:46:28,120 THERE ARE STILL CHALLENGES AHEAD 1302 00:46:28,120 --> 00:46:29,480 BUT WE HAVE HOLD THE PROFITS 1303 00:46:29,480 --> 00:46:31,680 A BIGGER PROMISE 1304 00:46:31,680 --> 00:46:33,640 THE COMING BREAKTHROUGH. 1305 00:46:33,640 --> 00:46:40,520 THANK YOU. 1306 00:46:40,520 --> 00:46:42,800 >> THANK YOU FOR INVITING ME 1307 00:46:42,800 --> 00:46:45,240 SPEAKING ON RARE DISEASES DAY. 1308 00:46:45,240 --> 00:46:47,200 I WANT TO THANK YOU ESPECIALLY 1309 00:46:47,200 --> 00:46:49,160 FOR HIS EXCEPTIONAL WORK THROUGHOUT 1310 00:46:49,160 --> 00:46:50,040 PANDEMIC. 1311 00:46:50,040 --> 00:46:51,800 DAY A RARE DISEASE LOOKS LIKE A 1312 00:46:51,800 --> 00:46:53,320 A LITTLE DIFFERENT THIS YEAR, 1313 00:46:53,320 --> 00:46:55,400 BUT IT'S SO BEAUTIFUL TO LOOK AT 1314 00:46:55,400 --> 00:46:57,560 IMPORTANT WORK MOVES FORWARD 1315 00:46:57,560 --> 00:46:59,240 DURING THESE DIFFICULT TIMES. 1316 00:46:59,240 --> 00:47:02,080 EACH OF YOU IS VERY IMPORTANT TO 1317 00:47:02,080 --> 00:47:04,160 THESE FAMILIES, AND INDIVIDUALS 1318 00:47:04,160 --> 00:47:06,560 LIVE AROUND THE COUNTRY 1319 00:47:06,560 --> 00:47:07,840 DIAGNOSIS OF A RARE DISEASE, STILL 1320 00:47:07,840 --> 00:47:08,520 LOOKING FOR ANSWERS. 1321 00:47:08,520 --> 00:47:11,800 THE JOB YOU DO IS AMAZING 1322 00:47:11,800 --> 00:47:12,320 IMPORTANT. 1323 00:47:12,320 --> 00:47:14,760 I'M GLAD TO PARTICIPATE 1324 00:47:14,760 --> 00:47:16,760 THIS VIRTUAL CONFERENCE. 1325 00:47:16,760 --> 00:47:18,800 NIH THROUGH NATIONAL 1326 00:47:18,800 --> 00:47:20,840 PROGRESS CENTER 1327 00:47:20,840 --> 00:47:22,440 TRANSLATIONAL SCIENCE AND NIH 1328 00:47:22,440 --> 00:47:24,960 CONDUCTED CLINICAL CENTER 1329 00:47:24,960 --> 00:47:25,600 AWESOME JOB, FORWARD 1330 00:47:25,600 --> 00:47:27,240 RARE TREATMENT AND CURE 1331 00:47:27,240 --> 00:47:27,960 DISEASE. 1332 00:47:27,960 --> 00:47:30,600 IF WE WANT RARE COMBAT 1333 00:47:30,600 --> 00:47:33,440 DISEASE, WE HAVE TO IMPROVE IT 1334 00:47:33,440 --> 00:47:35,640 INVEST IN RESEARCH, EXPAND 1335 00:47:35,640 --> 00:47:38,480 AND ENCOURAGE PARTICIPATION IN 1336 00:47:38,480 --> 00:47:39,160 CLINICAL TRIALS AND MANUFACTURE 1337 00:47:39,160 --> 00:47:40,880 INCENTIVES TO DEVELOP NEXT 1338 00:47:40,880 --> 00:47:43,320 GENERATIONS OF TREATMENT AND 1339 00:47:43,320 --> 00:47:43,800 HEALING. 1340 00:47:43,800 --> 00:47:44,960 THIS MEANS GETTING PURCHASE FROM 1341 00:47:44,960 --> 00:47:46,800 CONGRESS MEMBERS SO WE CAN 1342 00:47:46,800 --> 00:47:49,120 PASS THE BILL TO HELP SPEED UP 1343 00:47:49,120 --> 00:47:50,840 RESEARCH AND LONG INNOVATION AND 1344 00:47:50,840 --> 00:47:52,400 THAT'S WHERE IT FITS 1345 00:47:52,400 --> 00:47:53,240 TODAY'S PROGRAM. 1346 00:47:53,240 --> 00:47:56,200 I SERVE AS CO-CHAIR OF THE 1347 00:47:56,200 --> 00:47:57,600 RARE DISEASES OF CONGRESS 1348 00:47:57,600 --> 00:47:59,800 CAUCUS, THIS CAUCUS FUNCTIONS AS 1349 00:47:59,800 --> 00:48:01,160 INFORMATION HUB FOR MEMBERS 1350 00:48:01,160 --> 00:48:03,080 CONGRESS AND ITS STAFF. 1351 00:48:03,080 --> 00:48:05,720 WE WORK TO EDUCATE MEMBERS 1352 00:48:05,720 --> 00:48:11,480 THE PROBLEM OF FACING RARE DISEASES 1353 00:48:11,480 --> 00:48:12,760 COMMUNITY, INVEST IN 1354 00:48:12,760 --> 00:48:16,600 DEVELOPING TREATMENT AND HEALING. 1355 00:48:16,600 --> 00:48:19,720 ECONOMIC IMPACT, CHALLENGES ON PT 1356 00:48:19,720 --> 00:48:20,480 GETTING A DIAGNOSIS, ACCESSING 1357 00:48:20,480 --> 00:48:21,600 SPECIALISTS, IMPORTANT 1358 00:48:21,600 --> 00:48:23,200 NEWBORN EXAMINATION PROGRAM. 1359 00:48:23,200 --> 00:48:25,600 LAST YEARS WE HAVE BEEN SUCCESSFUL 1360 00:48:25,600 --> 00:48:27,480 ACHIEVE A FOUR YEAR EXTENSION 1361 00:48:27,480 --> 00:48:32,080 RARE PEDIATRIC DISEASES 1362 00:48:32,080 --> 00:48:32,960 PRIORITY REVIEW VOUCHER PROGRAM, 1363 00:48:32,960 --> 00:48:35,320 I WILL WORK TO MAKE SURE YOU WILL 1364 00:48:35,320 --> 00:48:36,520 HAVE FUNDING IN THIS CONGRESS, I 1365 00:48:36,520 --> 00:48:39,080 WILL WORK TO MAKE SURE YOU HAVE 1366 00:48:39,080 --> 00:48:41,800 FUNDING TO CONTINUE RESEARCH 1367 00:48:41,800 --> 00:48:42,960 AND SUPPORT TREATMENT. 1368 00:48:42,960 --> 00:48:44,800 I AM THANKFUL FOR ALL THE WORK 1369 00:48:44,800 --> 00:48:45,880 THAT'S WHAT DOES IT. 1370 00:48:45,880 --> 00:48:47,800 I AM GRATEFUL FOR HIS JOB 1371 00:48:47,800 --> 00:48:48,440 PARTNERS DO. 1372 00:48:48,440 --> 00:48:50,520 I AM PROUD TO STAND WITH EACH OTHER 1373 00:48:50,520 --> 00:48:52,680 YOU HAVE A RARE DISEASE 1374 00:48:52,680 --> 00:48:53,000 COMMUNITY. 1375 00:48:53,000 --> 00:48:54,880 PLEASE KNOW YOU HAVE ADVOCACY 1376 00:48:54,880 --> 00:48:57,320 IN CONGRESS AND I WILL CONTINUE 1377 00:48:57,320 --> 00:48:59,160 BECOME YOUR CHAMPION IN THIS 1378 00:48:59,160 --> 00:48:59,360 FIGHT. 1379 00:48:59,360 --> 00:49:08,840 THANK YOU VERY MUCH. 1380 00:49:08,840 --> 00:49:11,800 >> CLEARLY WHO PARTICIPATED IN 1381 00:49:11,800 --> 00:49:15,840 RARE DISEASES 2022 AT NIH, 1382 00:49:15,840 --> 00:49:16,720 I am Congressman GUS BILIRAKIS 1383 00:49:16,720 --> 00:49:18,360 AND HAVE THE PRIVILEGE TO SERVE 1384 00:49:18,360 --> 00:49:21,880 AS A MEMBER OF ENERGY 1385 00:49:21,880 --> 00:49:22,480 COMMERCIAL SUBCOMMITTEE ON 1386 00:49:22,480 --> 00:49:24,600 HEALTH AND SERVICE 1387 00:49:24,600 --> 00:49:26,280 CO-CHAIR RARE DISEASES 1388 00:49:26,280 --> 00:49:30,160 CAUCUS HERE IN THE UNITED STATES 1389 00:49:30,160 --> 00:49:30,440 CONGRESS. 1390 00:49:30,440 --> 00:49:32,160 FOR ME, THIS JOB IS PERSONAL 1391 00:49:32,160 --> 00:49:34,440 BECAUSE I HAVE A CLOSE FAMILY 1392 00:49:34,440 --> 00:49:36,520 MEMBERS AND FRIENDS WHO HAVE AND 1393 00:49:36,520 --> 00:49:39,480 CONTINUE TO SUFFER WITH THE FRAME 1394 00:49:39,480 --> 00:49:41,120 DISEASE, SADLY. 1395 00:49:41,120 --> 00:49:43,520 I KNOW THE COSTS, BOTH ARE COMMON 1396 00:49:43,520 --> 00:49:45,960 FINANCIAL TERMS BUT ALSO 1397 00:49:45,960 --> 00:49:48,720 HELP HUMANS MEET VERY RARELY 1398 00:49:48,720 --> 00:49:50,120 DISEASE RESULTS ON 1399 00:49:50,120 --> 00:49:52,280 PATIENTS AND OF COURSE 1400 00:49:52,280 --> 00:49:54,240 THEIR LOVED PEOPLE AND GUARDIANS. 1401 00:49:54,240 --> 00:49:57,480 AS YOU KNOW, THE DISEASE IS RARE 1402 00:49:57,480 --> 00:50:01,120 IT'S NOT A RARE PROBLEM. 1403 00:50:01,120 --> 00:50:02,840 AND THERE IS AN ESTIMATED 7,000 1404 00:50:02,840 --> 00:50:05,320 RARE DISEASES THAT ARE MORE IMPACT 1405 00:50:05,320 --> 00:50:07,600 OF 30 MILLION AMERICANS. 1406 00:50:07,600 --> 00:50:10,320 AND ALMOST 95% OF THIS 1407 00:50:10,320 --> 00:50:12,040 CONDITION UNKNOWN 1408 00:50:12,040 --> 00:50:13,560 TREATMENT OR HEALING. 1409 00:50:13,560 --> 00:50:16,040 WE MADE SOME ADVANTAGES, BUT THAT'S IT 1410 00:50:16,040 --> 00:50:18,160 CLEARLY NOT ENOUGH. 1411 00:50:18,160 --> 00:50:22,320 WITH EVERY RARE DISEASE ITS IMPACT 1412 00:50:22,320 --> 00:50:23,840 SMALLER PATIENTS, PATIENTS 1413 00:50:23,840 --> 00:50:25,160 POPULATION, THERE IS 1414 00:50:25,160 --> 00:50:26,960 CHALLENGES IN GETTING RESEARCH 1415 00:50:26,960 --> 00:50:30,040 AND ATTENTION TO EACH OTHER 1416 00:50:30,040 --> 00:50:30,440 PATIENTS DESERVE. 1417 00:50:30,440 --> 00:50:33,480 FOR THIS REASON, I HAVE A 1418 00:50:33,480 --> 00:50:34,920 FEDERAL LARGE PROPONENTS 1419 00:50:34,920 --> 00:50:36,200 INVEST IN RESEARCH THAT CAN 1420 00:50:36,200 --> 00:50:39,800 GIVES HOPE AND POTENTIAL FOR 1421 00:50:39,800 --> 00:50:43,400 PROVIDES MANY RARE DISEASES. 1422 00:50:43,400 --> 00:50:49,560 I'M PROUD OF OUR LATEST BUDGET 1423 00:50:49,560 --> 00:50:50,760 PASS INCLUDES SUBSTANCE 1424 00:50:50,760 --> 00:50:51,920 INCREASE FOR NOW. 1425 00:50:51,920 --> 00:50:55,760 MOST EVERYONE AGREES WE NEED IT 1426 00:50:55,760 --> 00:50:57,160 FUNDING THIS. 1427 00:50:57,160 --> 00:50:58,240 ENOUGH. 1428 00:50:58,240 --> 00:50:59,960 INCLUDING FUNDS FOR CONGENITAL 1429 00:50:59,960 --> 00:51:01,080 HEART DISEASE RESEARCH FOR 1430 00:51:01,080 --> 00:51:05,280 NATIONAL DEVELOPMENT 1431 00:51:05,280 --> 00:51:05,920 NEULOGICAL CONDITIONS 1432 00:51:05,920 --> 00:51:07,640 SUPERVISION SYSTEM. 1433 00:51:07,640 --> 00:51:13,360 AND FOR NATIONAL ALS REGISTRATION. 1434 00:51:13,360 --> 00:51:16,080 AND BIOREPOSITORY. 1435 00:51:16,080 --> 00:51:20,200 RESEARCH IS THE KEY, WOMEN AND 1436 00:51:20,200 --> 00:51:21,080 Gentlemen, and biomedicine 1437 00:51:21,080 --> 00:51:26,760 RESEARCH SAVES LIVES. 1438 00:51:26,760 --> 00:51:29,080 I'M GLAD TO SEE THIS CONTINUE 1439 00:51:29,080 --> 00:51:31,920 BECOME THE ONE THAT BRINGS 1440 00:51:31,920 --> 00:51:35,480 WITH CONGRESS MEMBERS 1441 00:51:35,480 --> 00:51:38,360 AROUND BOTH BRACELETS, VERY 1442 00:51:38,360 --> 00:51:39,480 IMPORTANT, WE WORK AROUND 1443 00:51:39,480 --> 00:51:41,120 AISLE ON THIS PARTICULAR ISSUE. 1444 00:51:41,120 --> 00:51:44,400 I AM PROUD TO BE A CO-SPONSOR 1445 00:51:44,400 --> 00:51:48,600 TRANSPLANT MEASURES WITH 1446 00:51:48,600 --> 00:51:52,080 LAST REPRESENTATIVE OF DORIS MATSUI 1447 00:51:52,080 --> 00:51:56,400 YEAR, APPROVAL OF THE CW BILL 1448 00:51:56,400 --> 00:51:57,840 YOUNG CELL TRANSPLANTATION 1449 00:51:57,840 --> 00:51:59,880 NATIONAL BLOOD BONE PROGRAM 1450 00:51:59,880 --> 00:52:00,160 INVENTORY. 1451 00:52:00,160 --> 00:52:02,840 THIS WILL HELP TENS OF THOUSANDS 1452 00:52:02,840 --> 00:52:05,760 FROM AMERICA OF ALL AGES 1453 00:52:05,760 --> 00:52:08,000 SUFFERING FROM A RARE DISEASE 1454 00:52:08,000 --> 00:52:11,080 BLOOD CANCER, SICKLE CELL 1455 00:52:11,080 --> 00:52:13,760 ANEMIA, AND OTHER INHERITANCE 1456 00:52:13,760 --> 00:52:16,360 METABOLIC OR IMMUNITY DISORDERS. 1457 00:52:16,360 --> 00:52:19,040 AGAIN, IT WAS REPRESENTED. 1458 00:52:19,040 --> 00:52:21,120 SAVED MANY LIVES DURING THIS TIME 1459 00:52:21,120 --> 00:52:23,640 YEAR, THIS LAW IS NEW AND NEW 1460 00:52:23,640 --> 00:52:25,480 LEGISLATION GIVES HOPE TO 1461 00:52:25,480 --> 00:52:28,120 THOSE WHO FIGHT WITH 1462 00:52:28,120 --> 00:52:29,160 LIFE THREATENING DISEASES. 1463 00:52:29,160 --> 00:52:33,000 THAT'S OUR GOAL. 1464 00:52:33,000 --> 00:52:34,360 ADDITIONALLY, I SPECIFICALLY 1465 00:52:34,360 --> 00:52:35,960 PROUD OF MY LAW 1466 00:52:35,960 --> 00:52:38,800 LEADING WITH MY RARE DISEASE 1467 00:52:38,800 --> 00:52:40,760 REPRESENTATIVE CAUCUS CHAIRMAN 1468 00:52:40,760 --> 00:52:43,560 C K BUTTERFIELD AT HOME AND 1469 00:52:43,560 --> 00:52:46,400 SENATOR KLOBUCHAR AND SENATORS 1470 00:52:46,400 --> 00:52:49,560 PLATE IN THE SENATE. 1471 00:52:49,560 --> 00:52:53,160 ACCESS SPEED THERAPY 1472 00:52:53,160 --> 00:52:55,960 TODAY OR H.R. 1730, WE NEED HELP 1473 00:52:55,960 --> 00:52:59,360 WITH THAT, TO ENSURE US 1474 00:52:59,360 --> 00:53:00,560 LEGISLATORS ARE AWARE OF THIS 1475 00:53:00,560 --> 00:53:02,520 AND I APPRECIATE EVERYTHING 1476 00:53:02,520 --> 00:53:05,120 YOUR ADVOCACY DOES CAREFULLY 1477 00:53:05,120 --> 00:53:07,360 FOR EVERYTHING, BUT ALSO 1478 00:53:07,360 --> 00:53:08,320 ESPECIALLY THIS PARTICULAR 1479 00:53:08,320 --> 00:53:11,480 THE BILLS ARE GOING AWAY. 1480 00:53:11,480 --> 00:53:14,400 THIS BILL WILL BE IMPLEMENTED WITH TARGET 1481 00:53:14,400 --> 00:53:17,600 IMPACT AND ACHIEVABLE POLICIES 1482 00:53:17,600 --> 00:53:23,720 REFORM AT THE FDA, AND ACROSS 1483 00:53:23,720 --> 00:53:24,960 HHS, TO ACCELERATE DEVELOPMENT 1484 00:53:24,960 --> 00:53:28,400 THERAPY ACROSS THE SPECTRUM 1485 00:53:28,400 --> 00:53:30,280 FOR RARE DISEASES AND DISORDERS 1486 00:53:30,280 --> 00:53:33,560 AND FACILITATE PATIENT ACCESS TO 1487 00:53:33,560 --> 00:53:34,640 THIS THERAPY. 1488 00:53:34,640 --> 00:53:36,520 THE STAT ACT WOULD IMPROVE ACCESS 1489 00:53:36,520 --> 00:53:40,120 THERAPY FOR THE RARE 1490 00:53:40,120 --> 00:53:41,880 INCLUDING THE DISEASE COMMUNITY 1491 00:53:41,880 --> 00:53:45,320 PATIENTS LIVE WITH ULTRA 1492 00:53:45,320 --> 00:53:47,760 RARE DISEASES WITH BETTER PROMOTION 1493 00:53:47,760 --> 00:53:48,760 INTER-GOVERNMENTAL COORDINATION, 1494 00:53:48,760 --> 00:53:52,760 THAT'S THE KEY, AND GO FORWARD 1495 00:53:52,760 --> 00:53:53,280 SCIENCE BASED REGULATIONS 1496 00:53:53,280 --> 00:53:54,080 POLICY. 1497 00:53:54,080 --> 00:53:55,800 WHAT'S MOST INTERESTING 1498 00:53:55,800 --> 00:53:58,960 ASPECTS OF THE BILL, ONLY 1499 00:53:58,960 --> 00:54:00,960 INTERCENTER CREATION 1500 00:54:00,960 --> 00:54:03,960 INSTITUTE OF RARE AND DISEASES 1501 00:54:03,960 --> 00:54:09,480 CONDITION IN FDA. 1502 00:54:09,480 --> 00:54:10,480 INTERCENTER, INSTITUTE 1503 00:54:10,480 --> 00:54:12,440 MODEL, FIRST RECOMMENDED 1504 00:54:12,440 --> 00:54:15,080 THROUGH 21ST CENTURY HEALING 1505 00:54:15,080 --> 00:54:17,120 ACT, SUCCESSFULLY USED FOR SPUR 1506 00:54:17,120 --> 00:54:18,360 DEVELOPMENT OF BETTER TREATMENTS 1507 00:54:18,360 --> 00:54:19,640 FOR CANCER. 1508 00:54:19,640 --> 00:54:22,160 WE WANT TO REPLICATE IT 1509 00:54:22,160 --> 00:54:27,120 SUCCESS FOR RARE DISEASES 1510 00:54:27,120 --> 00:54:27,480 COMMUNITY. 1511 00:54:27,480 --> 00:54:30,200 STAT LAW WILL CRE THE AIR 1512 00:54:30,200 --> 00:54:33,560 COMMITTEE ON RARE DISEASES 1513 00:54:33,560 --> 00:54:38,960 AT HHS WITH MEMBERSHIP 1514 00:54:38,960 --> 00:54:40,760 SCIENTIFIC AND MEDICAL EXPERTISE 1515 00:54:40,760 --> 00:54:46,160 TO SUGGEST REGULATORY PATHWAYS 1516 00:54:46,160 --> 00:54:46,920 IN TREATMENT REVIEW, 1517 00:54:46,920 --> 00:54:50,400 INNOVATIVE AND CLINICAL TRIALS 1518 00:54:50,400 --> 00:54:52,880 DESIGN, QUALIFICATION 1519 00:54:52,880 --> 00:54:56,560 BIOMARKERS, STANDARDS ON 1520 00:54:56,560 --> 00:54:58,200 POTENTIAL MEDICINE USE FOR 1521 00:54:58,200 --> 00:54:58,640 TREATING RARE DISEASES. 1522 00:54:58,640 --> 00:55:03,560 WE HAVE A LOT OF PROOF OF THAT 1523 00:55:03,560 --> 00:55:04,560 IT WORKS TOO. 1524 00:55:04,560 --> 00:55:05,440 I AM VERY VERY VERY ABOUT THIS 1525 00:55:05,440 --> 00:55:06,760 LEGISLATION AND HAS 1526 00:55:06,760 --> 00:55:09,280 WORKING TO HELP BE SAFE 1527 00:55:09,280 --> 00:55:10,000 ADDITIONAL SPONSORS ON BOTH 1528 00:55:10,000 --> 00:55:11,680 AISLE SIDE WHERE YOU CAN 1529 00:55:11,680 --> 00:55:12,840 HELP ME. 1530 00:55:12,840 --> 00:55:15,600 I WILL ALSO LOOK FOR OTHERS 1531 00:55:15,600 --> 00:55:17,800 ADDITIONAL LEGISLATIVE VEHICLES, 1532 00:55:17,800 --> 00:55:19,400 THIS YEAR, THE BILL MUST PASS, TO 1533 00:55:19,400 --> 00:55:21,960 GET THIS BILL ENTIRELY DONE 1534 00:55:21,960 --> 00:55:24,600 LINE AS ONE OF MY TOP 1535 00:55:24,600 --> 00:55:24,960 PRIORITIES. 1536 00:55:24,960 --> 00:55:27,560 THESE ARE JUST SOME OF THEM 1537 00:55:27,560 --> 00:55:31,480 MANY THINGS WE HAVE WORKED ON, AS 1538 00:55:31,480 --> 00:55:33,360 CHAMPION OF RARE DISEASES 1539 00:55:33,360 --> 00:55:33,960 COMMUNITY. 1540 00:55:33,960 --> 00:55:34,760 WE WORK TOGETHER. 1541 00:55:34,760 --> 00:55:37,360 It was an honor to speak beforehand 1542 00:55:37,360 --> 00:55:39,280 YOU TODAY, AND THANK YOU FOR 1543 00:55:39,280 --> 00:55:43,160 EVERYTHING YOU DO AS PART OF THIS 1544 00:55:43,160 --> 00:55:43,600 COMMUNITY. 1545 00:55:43,600 --> 00:55:45,800 IN HELEN'S BIG WORDS 1546 00:55:45,800 --> 00:55:49,320 KELLER, I QUOTE, IS ALL WE CAN DO 1547 00:55:49,320 --> 00:55:50,160 VERY LITTLE. 1548 00:55:50,160 --> 00:55:53,360 BUT TOGETHER WE CAN DO MUCH MORE. 1549 00:55:53,360 --> 00:55:56,160 THAT IS VERY TRUE. 1550 00:55:56,160 --> 00:55:57,760 LAWMAKERS AND GOVERNMENT 1551 00:55:57,760 --> 00:55:59,760 OFFICIALS MEET MANY PEOPLE 1552 00:55:59,760 --> 00:56:03,760 EVERY DAY BUT I HAVE FOUND IT 1553 00:56:03,760 --> 00:56:05,440 IT IS A PRIVATE INDIVIDUAL 1554 00:56:05,440 --> 00:56:08,160 A TOTALLY WONDERFUL STORY 1555 00:56:08,160 --> 00:56:09,920 THE BIGGEST IMPACT, PARTICULARLY ON 1556 00:56:09,920 --> 00:56:11,360 THIS PROBLEM. 1557 00:56:11,360 --> 00:56:13,560 SHARE YOUR CHALLENGES 1558 00:56:13,560 --> 00:56:16,480 AND THE PEOPLE YOU LOVE ARE FACING BECAUSE 1559 00:56:16,480 --> 00:56:19,240 RARE DISEASES CAN HELP GARNER 1560 00:56:19,240 --> 00:56:21,640 SUPPORT IS MUCH NEEDED FOR 1561 00:56:21,640 --> 00:56:22,400 LEGISLATIVE AND REGULATION 1562 00:56:22,400 --> 00:56:25,480 OUR CHANGES AS A RARE DISEASE 1563 00:56:25,480 --> 00:56:29,760 THE COMMUNITY EXPECTS TO DO SO 1564 00:56:29,760 --> 00:56:32,160 GET INTRODUCTION, DIAGNOSIS AND 1565 00:56:32,160 --> 00:56:33,680 FINALLY TREATMENT AND HEALING. 1566 00:56:33,680 --> 00:56:34,760 THAT'S THE GOAL. 1567 00:56:34,760 --> 00:56:37,720 SO THANK YOU FOR COMING OUT 1568 00:56:37,720 --> 00:56:39,960 YOUR COMFORT ZONE. 1569 00:56:39,960 --> 00:56:40,760 AND MAKE A POSITIVE DIFFERENCE 1570 00:56:40,760 --> 00:56:42,960 IN THE LIVES OF THEIR LIVING 1571 00:56:42,960 --> 00:56:44,160 WITH RARE DISEASES. 1572 00:56:44,160 --> 00:56:47,200 I KNOW YOU WILL KEEP DOING IT 1573 00:56:47,200 --> 00:56:47,880 GREAT JOB. 1574 00:56:47,880 --> 00:56:49,760 ONCE AGAIN, THANK YOU FOR 1575 00:56:49,760 --> 00:56:50,360 PARTICIPATE TODAY. 1576 00:56:50,360 --> 00:56:53,760 AND THANK YOU FOR YOUR SUPPORT 1577 00:56:53,760 --> 00:56:55,160 THEN IT'S WORTH THE TIME OF TRYING. 1578 00:56:55,160 --> 00:56:56,840 I WILL TELL YOU THIS. 1579 00:56:56,840 --> 00:56:59,120 HOPE WE MEET NEXT YEAR 1580 00:56:59,120 --> 00:57:02,120 IN PERSON, BUT THANK YOU FOR EVERYTHING 1581 00:57:02,120 --> 00:57:06,440 YOUR GREAT JOB. 1582 00:57:06,440 --> 00:57:13,560 >> I'M VINCE BONHAM, ACTING 1583 00:57:13,560 --> 00:57:20,960 DEPUTY DIRECTOR HUMAN 1584 00:57:20,960 --> 00:57:21,800 HUMAN GENOME INSTITUTE. 1585 00:57:21,800 --> 00:57:24,160 SESSION 1, THINKING PROBLEMS 1586 00:57:24,160 --> 00:57:25,560 ON EQUITY OF CARE IN RARE 1587 00:57:25,560 --> 00:57:26,760 DISEASE IS AN IMPORTANT ISSUE 1588 00:57:26,760 --> 00:57:28,400 THAT COMMUNITY HAS HAPPENED 1589 00:57:28,400 --> 00:57:28,960 THINK ABOUT. 1590 00:57:28,960 --> 00:57:31,760 SO I WANT YOU TO THINK ABOUT 1591 00:57:31,760 --> 00:57:32,080 THIS QUESTION. 1592 00:57:32,080 --> 00:57:34,840 WHAT HEALTH EQUITY MEANS 1593 00:57:34,840 --> 00:57:36,800 RESEARCH AND RARE DISEASES 1594 00:57:36,800 --> 00:57:38,000 CLINICAL CARE? 1595 00:57:38,000 --> 00:57:40,640 HOW CAN WE INCREASE INNER EQUITY 1596 00:57:40,640 --> 00:57:41,320 THE WORK WE DO? 1597 00:57:41,320 --> 00:57:43,640 THIS IS NOT A NEW PROBLEM FOR YOU 1598 00:57:43,640 --> 00:57:45,600 FIELD OF RARE DISEASES. 1599 00:57:45,600 --> 00:57:47,000 COMMUNITIES AROUND THE COUNTRY 1600 00:57:47,000 --> 00:57:49,080 AND THE GLOBE THINKS ABOUT 1601 00:57:49,080 --> 00:57:51,160 QUESTIONS ABOUT EQUITY AND HOW 1602 00:57:51,160 --> 00:57:55,920 DO WE BRING EQUITY TO SCARCE 1603 00:57:55,920 --> 00:57:56,280 DISEASE. 1604 00:57:56,280 --> 00:57:57,920 AREAS WITH SIGNIFICANT PROBLEMS 1605 00:57:57,920 --> 00:57:58,640 HEALTH DISPARITIES, 1606 00:57:58,640 --> 00:57:59,760 DIFFERENCES WITH RESPECT TO 1607 00:57:59,760 --> 00:58:03,040 ACCESS TO CARE, HOW DO WE 1608 00:58:03,040 --> 00:58:04,560 PROVIDE MORE EQUITY FOR 1609 00:58:04,560 --> 00:58:08,120 INDIVIDUALS ACROSS AMERICA 1610 00:58:08,120 --> 00:58:09,200 COUNTRY AND GLOBALLY? 1611 00:58:09,200 --> 00:58:10,600 I'M AT THE NATIONAL INSTITUTE 1612 00:58:10,600 --> 00:58:13,880 HEALTH. 1613 00:58:13,880 --> 00:58:15,320 THIS IS LEADING RESEARCH 1614 00:58:15,320 --> 00:58:16,480 INSTITUTIONS IN OUR COUNTRY. 1615 00:58:16,480 --> 00:58:18,800 THIS IS AN IMPORTANT AREA FOR US 1616 00:58:18,800 --> 00:58:22,160 IN CONNECTION WITH THINKING 1617 00:58:22,160 --> 00:58:24,280 PROBLEMS OF EQUALITY, JUSTICE, 1618 00:58:24,280 --> 00:58:26,120 BIOMEDICAL RESEARCH. 1619 00:58:26,120 --> 00:58:28,400 IN MARCH 2021, NIH 1620 00:58:28,400 --> 00:58:30,040 FORMING NEW INITIATIVES 1621 00:58:30,040 --> 00:58:32,000 IT'S CALLED THE UNITED INITIATIVE. 1622 00:58:32,000 --> 00:58:35,360 THIS INITIATIVE IS AIMED FOR 1623 00:58:35,360 --> 00:58:38,160 BUILDING A FAIR CULTURE 1624 00:58:38,160 --> 00:58:40,000 WITH BIOMEDICAL RESEARCH 1625 00:58:40,000 --> 00:58:42,320 COMPANIES, REDUCE BARRIERS AGAINST 1626 00:58:42,320 --> 00:58:45,120 INEQUALITY AND RACIAL ADVANCEMENT 1627 00:58:45,120 --> 00:58:46,160 BIOMEDICAL RESEARCH EQUITY. 1628 00:58:46,160 --> 00:58:49,400 I ENCOURAGE YOU TO GO TO US 1629 00:58:49,400 --> 00:58:51,960 WEBSITE TO LEARN MORE ABOUT 1630 00:58:51,960 --> 00:58:53,000 UNITED INITIATIVE. 1631 00:58:53,000 --> 00:58:55,160 THIS IS THE MAIN FOCUS BY THE 1632 00:58:55,160 --> 00:58:56,800 NATIONAL INSTITUTE OF HEALTH FOR 1633 00:58:56,800 --> 00:58:59,760 OVERCOMING STRUCTURAL PROBLEMS 1634 00:58:59,760 --> 00:59:00,760 RACISM IN BIOMEDICAL RESEARCH. 1635 00:59:00,760 --> 00:59:04,600 WHAT I WANT TO DO WITH MY BRIEF 1636 00:59:04,600 --> 00:59:07,760 TODAY'S TIME TO TALK ABOUT THREE 1637 00:59:07,760 --> 00:59:09,960 CONCEPTS, DIVERSITY IN RESEARCH, 1638 00:59:09,960 --> 00:59:11,000 DIVERSITY IN BIOMEDICALS 1639 00:59:11,000 --> 00:59:12,200 LABOR, HEALTH EQUALITY. 1640 00:59:12,200 --> 00:59:15,320 AND THINK ABOUT THIS CONCEPT, 1641 00:59:15,320 --> 00:59:17,360 ASSOCIATED WITH RARE DISEASES. 1642 00:59:17,360 --> 00:59:19,200 WHEN WE THINK ABOUT DIVERSITY 1643 00:59:19,200 --> 00:59:21,600 AND THE MEANING OF OUR DIVERSITY 1644 00:59:21,600 --> 00:59:24,160 ALL THINK ABOUT THE THINGS WE DO 1645 00:59:24,160 --> 00:59:25,440 CAN SEE. 1646 00:59:25,440 --> 00:59:27,960 TRAITS THAT IDENTIFY AN 1647 00:59:27,960 --> 00:59:29,280 CONCERNED INDIVIDUALS 1648 00:59:29,280 --> 00:59:29,800 DIFFERENCES. 1649 00:59:29,800 --> 00:59:34,080 WE OFTEN THINK ABOUT ETHNICITY, 1650 00:59:34,080 --> 00:59:35,160 RACE, NATIONALITY, GENDER, 1651 00:59:35,160 --> 00:59:37,040 DISABILITIES, SOCIO-ECONOMIC 1652 00:59:37,040 --> 00:59:37,280 STATUS. 1653 00:59:37,280 --> 00:59:39,360 BUT THAT'S JUST A TIP 1654 00:59:39,360 --> 00:59:40,560 FROM THE ICEBERG. 1655 00:59:40,560 --> 00:59:42,720 WHEN WE THINK ABOUT DIVERSITY, 1656 00:59:42,720 --> 00:59:44,000 MORE THINGS FROM 1657 00:59:44,000 --> 00:59:47,440 PROBLEMS OF RACE AND ETHNICITY. 1658 00:59:47,440 --> 00:59:51,040 IT'S A STYLE OF THINKING, LANGUAGE, 1659 00:59:51,040 --> 00:59:51,360 PERSPECTIVE. 1660 00:59:51,360 --> 00:59:51,800 RELIGION, EXPERIENCE, 1661 00:59:51,800 --> 00:59:52,680 NATIONALITY, GEOGRAPHY. 1662 00:59:52,680 --> 00:59:55,160 WE NEED TO THINK ABOUT DIVERSITY 1663 00:59:55,160 --> 00:59:57,280 IN A VERY DIFFERENT WAY WHEN US 1664 00:59:57,280 --> 00:59:58,800 THINK ABOUT RARE DISEASES. 1665 00:59:58,800 --> 01:00:02,040 BUT WE HAVE TO FOCUS 1666 01:00:02,040 --> 01:00:03,480 DIVERSITY IN RESEARCH. 1667 01:00:03,480 --> 01:00:05,560 ON THE NATIONAL HUMAN GENOME 1668 01:00:05,560 --> 01:00:08,680 MY PLACE RESEARCH INSTITUTE 1669 01:00:08,680 --> 01:00:09,400 INVESTIGATORS AND DEPUTY 1670 01:00:09,400 --> 01:00:11,320 DIRECTOR, ONE OF THE PRINCIPALS 1671 01:00:11,320 --> 01:00:13,400 THE PROBLEM WE FOCUS ON IS HOW 1672 01:00:13,400 --> 01:00:16,680 CAN WE INCREASE DIVERSITY 1673 01:00:16,680 --> 01:00:18,800 POPULATIONS ARE GENETICALLY EXHAUSTED 1674 01:00:18,800 --> 01:00:19,600 LEARN BECAUSE OF THIS 1675 01:00:19,600 --> 01:00:21,920 IMPORTANT FOR BOTH RARE DISEASES 1676 01:00:21,920 --> 01:00:25,840 AS WELL AS MORE COMMON DISEASES. 1677 01:00:25,840 --> 01:00:27,800 BECAUSE OF GENETIC UNDERSTANDING 1678 01:00:27,800 --> 01:00:29,800 IMPORTANT VARIATIONS FOR 1679 01:00:29,800 --> 01:00:30,760 IDENTIFICATION OF NEW TREATMENTS AND 1680 01:00:30,760 --> 01:00:33,600 IMPROVING THE HEALTH OF ALL 1681 01:00:33,600 --> 01:00:33,960 INDIVIDUAL. 1682 01:00:33,960 --> 01:00:36,800 WE ALSO NEED TO THINK ABOUT IT 1683 01:00:36,800 --> 01:00:38,960 DIVERSITY ISSUES WITH THINGS 1684 01:00:38,960 --> 01:00:40,760 TO RESEARCH AND THINK 1685 01:00:40,760 --> 01:00:41,360 LABOR. 1686 01:00:41,360 --> 01:00:44,120 WHO IS IN THE WORKFORCE? 1687 01:00:44,120 --> 01:00:45,760 I SHARE THIS SLIDE WITH YOU HERE 1688 01:00:45,760 --> 01:00:50,120 IT'S A REALLY SHOWING SLIDE 1689 01:00:50,120 --> 01:00:51,120 BIOMEDICAL PIPES 1690 01:00:51,120 --> 01:00:56,560 RESEARCH, AND YOU SEE HERE 1691 01:00:56,560 --> 01:01:01,440 IT WAS 2000, 2008, ONLY 7%. 1692 01:01:01,440 --> 01:01:03,200 BIOMEDICAL RESEARCHERS ACCEPT 1693 01:01:03,200 --> 01:01:06,360 PhD COMES FROM 1694 01:01:06,360 --> 01:01:07,760 UNDER-REPRESENTED MINORITIES 1695 01:01:07,760 --> 01:01:08,640 BACKGROUND. 1696 01:01:08,640 --> 01:01:11,840 NOW ABOUT 18% IN STEMM 1697 01:01:11,840 --> 01:01:12,520 PhD field. 1698 01:01:12,520 --> 01:01:15,920 OUR TRAINING PROGRAM IS ALREADY RUNNING 1699 01:01:15,920 --> 01:01:19,600 FROM 10% IN 2012 TO 22% 1700 01:01:19,600 --> 01:01:20,800 UNDER-REPRESENTED POPULATIONS IN 1701 01:01:20,800 --> 01:01:21,360 2020. 1702 01:01:21,360 --> 01:01:22,760 SO WE MAKE A DIFFERENCE, 1703 01:01:22,760 --> 01:01:26,440 BUT WE STILL HAVE A LONG WAY. 1704 01:01:26,440 --> 01:01:28,360 SO, WHEN WE THINK ABOUT EQUITY, 1705 01:01:28,360 --> 01:01:32,080 AND WE THINK ABOUT DEEP EQUITY 1706 01:01:32,080 --> 01:01:34,960 HEALTH CARE, THIS CARTOON IS FROM 1707 01:01:34,960 --> 01:01:35,480 ROBERT WOOD JOHNSON 1708 01:01:35,480 --> 01:01:37,640 THE FOUNDATION I THINK IS GOOD 1709 01:01:37,640 --> 01:01:40,960 JOB TALK ABOUT AND 1710 01:01:40,960 --> 01:01:42,400 THINK ABOUT EQUALITY 1711 01:01:42,400 --> 01:01:43,800 VERSUS EQUITY. 1712 01:01:43,800 --> 01:01:45,680 YOU SEE THE INDIVIDUAL ABOVE 1713 01:01:45,680 --> 01:01:48,400 BIKES WITH DIFFERENT EQUITY 1714 01:01:48,400 --> 01:01:49,400 BIKES, DIFFERENT ACCESS, SO US 1715 01:01:49,400 --> 01:01:52,680 NEED TO THINK ABOUT THIS 1716 01:01:52,680 --> 01:01:54,440 PERSPECTIVE WHAT AN 1717 01:01:54,440 --> 01:01:55,720 INDIVIDUAL PATIENTS NEED TO MAKE 1718 01:01:55,720 --> 01:01:58,080 DEFINITELY WE HAVE VERSUS EQUITY 1719 01:01:58,080 --> 01:01:59,320 THINK ABOUT QUALITY 1720 01:01:59,320 --> 01:02:00,960 GIVE EVERYONE THE SAME THING. 1721 01:02:00,960 --> 01:02:03,000 OUR PANELISTS TODAY WILL 1722 01:02:03,000 --> 01:02:04,960 EXPLORE SOME OF THESE ISSUES 1723 01:02:04,960 --> 01:02:06,960 IN EQUALITY AND 1724 01:02:06,960 --> 01:02:10,440 EQUITY IS RARE 1725 01:02:10,440 --> 01:02:11,240 DISEASE. 1726 01:02:11,240 --> 01:02:13,600 I WILL HELP WITH THIS. 1727 01:02:13,600 --> 01:02:15,240 RESEARCH DIVERSITY 1728 01:02:15,240 --> 01:02:17,880 PARTICIPANTS AND DIVERSITY 1729 01:02:17,880 --> 01:02:19,160 RESEARCH IN THE CLINICAL WORKFORCE 1730 01:02:19,160 --> 01:02:20,520 FINDING HEALTH EQUALITY. 1731 01:02:20,520 --> 01:02:23,680 WHILE WE THINK WHERE WE ARE GOING 1732 01:02:23,680 --> 01:02:25,200 FROM HERE IN CONNECTION WITH 1733 01:02:25,200 --> 01:02:27,640 FIELD OF RARE DISEASES, FOR 1734 01:02:27,640 --> 01:02:30,440 INCREASING EQUITY, WE MUST HAVE 1735 01:02:30,440 --> 01:02:31,760 MORE DIVERSE RESEARCH 1736 01:02:31,760 --> 01:02:32,840 PARTICIPANTS IN VARIOUS STUDIES 1737 01:02:32,840 --> 01:02:39,400 AND YOU MUST HAVE VARIETY 1738 01:02:39,400 --> 01:02:40,160 LABOR. 1739 01:02:40,160 --> 01:02:42,280 WITH THAT I'M HAPPY 1740 01:02:42,280 --> 01:02:44,240 INTRODUCE OUR PANELIST TO 1741 01:02:44,240 --> 01:02:45,240 TODAY'S SESSION AND I WANT IT 1742 01:02:45,240 --> 01:02:51,120 TO INTRODUCE EVERYTHING IN ONE 1743 01:02:51,120 --> 01:02:52,920 TIME, YOU WILL HAVE AN OPPORTUNITY 1744 01:02:52,920 --> 01:03:03,840 TO HEAR FROM EACH OTHER. 1745 01:03:03,840 --> 01:03:05,760 XAN NOWAKOWSKI, STATE OF FLORIDA 1746 01:03:05,760 --> 01:03:08,480 UNIVERSITY COLLEGE OF MEDICINE. 1747 01:03:08,480 --> 01:03:11,160 MICHELE TAKEMOTO IS GENETIC 1748 01:03:11,160 --> 01:03:13,520 COUNSELOR, DEPARTMENT OF HAWAII 1749 01:03:13,520 --> 01:03:15,360 HEALTH AND GENETICS PROGRAM 1750 01:03:15,360 --> 01:03:18,080 PROJECT SPECIALISTS FOR THE WEST 1751 01:03:18,080 --> 01:03:20,040 STATE REGIONAL GENETIC NETWORKS 1752 01:03:20,040 --> 01:03:23,760 FROM WHAT YOU WILL LEARN 1753 01:03:23,760 --> 01:03:24,200 MICHELE. 1754 01:03:24,200 --> 01:03:26,360 AISHA LANGFORD, DIVISION 1755 01:03:26,360 --> 01:03:28,320 COMPARATIVE EFFECTIVENESS AND 1756 01:03:28,320 --> 01:03:30,960 DECISION SCIENCE, DEPARTMENT 1757 01:03:30,960 --> 01:03:34,800 POPULATION HEALTH, NEW YORK 1758 01:03:34,800 --> 01:03:35,560 UNIVERSITY. 1759 01:03:35,560 --> 01:03:45,120 AND NICOLE KRESSIN, CO-CHAIR OF 1760 01:03:45,120 --> 01:03:50,000 DIVERSITY COMMITTEE, RDCRN. 1761 01:03:50,000 --> 01:03:51,760 AND TRACY KING, CO-CHAIR OF THE 1762 01:03:51,760 --> 01:03:54,160 RARE DISEASES COMMITTEE 1763 01:03:54,160 --> 01:03:56,200 CLINICAL, MEDICAL RESEARCH 1764 01:03:56,200 --> 01:04:00,160 OFFICERS AND INTELLECTUALS 1765 01:04:00,160 --> 01:04:01,440 DEVELOPMENTAL DISABILITY BRANCH 1766 01:04:01,440 --> 01:04:02,760 ON EUNICE KENNEDY SHRIVER 1767 01:04:02,760 --> 01:04:03,480 NATIONAL CHILDREN'S INSTITUTE 1768 01:04:03,480 --> 01:04:05,040 HUMAN HEALTH AND DEVELOPMENT. 1769 01:04:05,040 --> 01:04:07,960 WITH THAT WE ARE LOOKING FORWARD TO IT 1770 01:04:07,960 --> 01:04:10,880 PANEL AND CONVERSATION A 1771 01:04:10,880 --> 01:04:12,160 DISCUSSION. -- AFTER 1772 01:04:12,160 --> 01:04:22,240 DISCUSSION. 1773 01:04:22,240 --> 01:04:24,160 >> I'm DR. NOWKOWSKI, 38 YEARS 1774 01:04:24,160 --> 01:04:26,280 LIVING OLD WITH CYSTIC FIBROSIS, 1775 01:04:26,280 --> 01:04:30,720 A RARE DISEASE THAT MAKES 1776 01:04:30,720 --> 01:04:31,800 MUCOUS STICKY, CAUSES DAMAGE 1777 01:04:31,800 --> 01:04:34,880 VARIOUS KINDS OF ORGANS. 1778 01:04:34,880 --> 01:04:38,600 I AM ALSO A SCIENTIST, CLINICIAN 1779 01:04:38,600 --> 01:04:39,920 EDUCATION, AND COMMUNITY 1780 01:04:39,920 --> 01:04:42,840 ADVOCACY FOR PEOPLE WITH CF AND 1781 01:04:42,840 --> 01:04:43,560 OTHER RARE DISEASES. 1782 01:04:43,560 --> 01:04:45,600 SO I'M AT A CROSSROAD LIKE I AM 1783 01:04:45,600 --> 01:04:49,280 ME IN MANY AREA OF MY LIFE 1784 01:04:49,280 --> 01:04:54,880 DIFFERENT WAYS IN SCIENCE, 1785 01:04:54,880 --> 01:04:55,960 CARE, AND COMMUNITY INTERACTION. 1786 01:04:55,960 --> 01:04:57,600 THAT'S THE BEGINNING OF THE WAY 1787 01:04:57,600 --> 01:04:59,360 INTERSECTIONS WORK IN MY LIFE. 1788 01:04:59,360 --> 01:05:01,680 MY MESSAGE TO ALL OF YOU TODAY 1789 01:05:01,680 --> 01:05:04,720 WHAT I WILL SHARE AND 1790 01:05:04,720 --> 01:05:09,280 LEADING TO THE NEXT SPEAKER, 1791 01:05:09,280 --> 01:05:11,960 DIVERSITY IS IMPORTANT. 1792 01:05:11,960 --> 01:05:13,880 IT'S ALSO EARLY. 1793 01:05:13,880 --> 01:05:17,440 DIVERSITY IS WHERE WE START. 1794 01:05:17,440 --> 01:05:20,880 AND IN PARTICULAR, DIVERSITY IS 1795 01:05:20,880 --> 01:05:25,680 WHERE DO WE START LEARNING 1796 01:05:25,680 --> 01:05:27,640 THE SKILLS WE TRAIN TO PERFORM 1797 01:05:27,640 --> 01:05:29,000 BETTER FOR EACH OTHER. 1798 01:05:29,000 --> 01:05:36,960 SO I'LL REPEAT THE LAST AGAIN 1799 01:05:36,960 --> 01:05:41,160 THE NAME IS PRONOUNATED LIKE SUPER 1800 01:05:41,160 --> 01:05:42,520 NOVA COUGH AND SKI. 1801 01:05:42,520 --> 01:05:44,200 MY FATHER'S FAMILY WAS POLAND. 1802 01:05:44,200 --> 01:05:47,200 IT TAKES A LITTLE TO GET IT 1803 01:05:47,200 --> 01:05:50,000 SPEED IN PRONUNCIATION. 1804 01:05:50,000 --> 01:05:50,760 NOT GOOD. 1805 01:05:50,760 --> 01:05:54,360 THE PRACTICES THAT MAKE IT 1806 01:05:54,360 --> 01:05:54,600 PERFECT. 1807 01:05:54,600 --> 01:05:57,160 PRACTICE, DELIBERATE PRACTICE 1808 01:05:57,160 --> 01:06:01,120 WHICH ALLOWS US TO PRACTICE 1809 01:06:01,120 --> 01:06:02,600 JUSTICE IN SCIENCE. 1810 01:06:02,600 --> 01:06:04,200 WE STARTED PLANNING FOR THIS 1811 01:06:04,200 --> 01:06:06,280 SPECIAL SESSIONS AROUND 1812 01:06:06,280 --> 01:06:07,400 THE IDEA OF INCLUSION AND 1813 01:06:07,400 --> 01:06:08,600 AFFIRMATION IN CLINICAL TRIALS. 1814 01:06:08,600 --> 01:06:10,560 I'M ACTUALLY JUST GIVING A TALK 1815 01:06:10,560 --> 01:06:13,840 NATIONAL JEWISH COUPLES' HEALTH 1816 01:06:13,840 --> 01:06:15,800 LAST WEEK FOCUSED SPECIFICALLY 1817 01:06:15,800 --> 01:06:18,080 ON BARRIERS TO CLINICAL TRIALS 1818 01:06:18,080 --> 01:06:19,160 PARTICIPATION FOR PEOPLE WITH 1819 01:06:19,160 --> 01:06:21,480 CYSTIC FIBROSIS PART OF 1820 01:06:21,480 --> 01:06:27,160 QUEER, TRANS AND OTHER INTERSEX 1821 01:06:27,160 --> 01:06:27,480 COMMUNITY. 1822 01:06:27,480 --> 01:06:29,480 I'LL TELL YOU ABOUT MY BACKGROUND 1823 01:06:29,480 --> 01:06:31,200 RELATED TO THOSE ASPECTS 1824 01:06:31,200 --> 01:06:31,880 LIFE EXPERIENCE AND OTHERS 1825 01:06:31,880 --> 01:06:33,720 THINGS THAT MAKE ME A LITTLE 1826 01:06:33,720 --> 01:06:35,640 UNIQUE AS PEOPLE LIVE TOGETHER 1827 01:06:35,640 --> 01:06:38,120 CF AND THAT GIVES ME UNIQUE 1828 01:06:38,120 --> 01:06:41,280 THINGS THAT SHOULD BE SHARE IN EDUCATION 1829 01:06:41,280 --> 01:06:43,600 AND UNIQUE THINGS TO ASK 1830 01:06:43,600 --> 01:06:47,400 IN THE RESEARCH I DID. 1831 01:06:47,400 --> 01:06:54,080 I AM OPEN AND PROUD 1832 01:06:54,080 --> 01:06:56,640 BISEXUAL, AGENDER, IN QUEER 1833 01:06:56,640 --> 01:06:57,920 AND THE TRANS COMMUNITY, ENDOSEX. 1834 01:06:57,920 --> 01:07:01,640 I AM VERY PROUD TO HAVE EMPLOYED US 1835 01:07:01,640 --> 01:07:03,080 FIRST OPEN INTERSEX STAFF 1836 01:07:03,080 --> 01:07:04,720 MEMBERS OF FSU COLLEGE OF 1837 01:07:04,720 --> 01:07:07,440 MEDICINE, IF THAT'S A NEW TERM 1838 01:07:07,440 --> 01:07:09,880 MEANING DURING YOUR SEX 1839 01:07:09,880 --> 01:07:11,280 DUTY AT BIRTH NO 1840 01:07:11,280 --> 01:07:12,880 MATCH YOUR ACTUAL SEX. 1841 01:07:12,880 --> 01:07:15,960 PEOPLE WHO MAY HAVE INTERSEX 1842 01:07:15,960 --> 01:07:19,680 MIXED SEX CHARACTERISTICS IN 1843 01:07:19,680 --> 01:07:21,400 ANATOMY, GENETICS, HORMONES, A 1844 01:07:21,400 --> 01:07:22,520 VARIOUS OTHER FEATURES. 1845 01:07:22,520 --> 01:07:24,400 OF COURSE, THERE ARE NO TWO INTERSEX 1846 01:07:24,400 --> 01:07:25,920 PEOPLE ARE THE SAME. 1847 01:07:25,920 --> 01:07:27,560 SO THE ANGLE OF DIVERSITY IS REALLY REAL 1848 01:07:27,560 --> 01:07:31,440 COME TO PLAY BECAUSE WHEN WE ARE 1849 01:07:31,440 --> 01:07:34,320 INCLUDE PEOPLE OF DIVERSE LIVES 1850 01:07:34,320 --> 01:07:36,680 EXPERIENCE WITH A PARTICULAR 1851 01:07:36,680 --> 01:07:38,600 SOCIAL LOCATION, STATE OF HEALTH, 1852 01:07:38,600 --> 01:07:40,480 OR OTHERWISE, LET'S GET STARTED 1853 01:07:40,480 --> 01:07:42,080 LEARN THE NUANCE. 1854 01:07:42,080 --> 01:07:45,560 WE BEGIN TO SEE HIS SHADOW 1855 01:07:45,560 --> 01:07:47,680 WHAT ARE ALL THE DIFFERENT WAYS 1856 01:07:47,680 --> 01:07:52,800 IT WILL BE CALLED MONOLITHIC 1857 01:07:52,800 --> 01:07:55,200 MASTER IDENTITY OR STATUS CAN BE 1858 01:07:55,200 --> 01:07:56,520 REALLY SHAPE US CORRECTLY 1859 01:07:56,520 --> 01:07:58,560 A UNIQUE EXPERIENCE OF SOMETHING 1860 01:07:58,560 --> 01:08:00,480 IN OUR HEALTH CARE OR RESEARCH 1861 01:08:00,480 --> 01:08:00,840 PARTICIPATION. 1862 01:08:00,840 --> 01:08:02,440 SO I ALWAYS WANT TO SAY IF YOU 1863 01:08:02,440 --> 01:08:04,080 MEET A PERSON WITH CF, YOU MEET 1864 01:08:04,080 --> 01:08:04,920 ONE OF US. 1865 01:08:04,920 --> 01:08:07,080 EACH OF US HAS A DIFFERENT ONE 1866 01:08:07,080 --> 01:08:09,200 CHARACTERISTICS THAT MAKE US 1867 01:08:09,200 --> 01:08:10,920 UNIQUE AS A PATIENT, WELL 1868 01:08:10,920 --> 01:08:12,280 SEX/GENDER AND SEXUALITY, 1869 01:08:12,280 --> 01:08:15,080 SPECIAL GENETICS, ME A LITTLE 1870 01:08:15,080 --> 01:08:16,680 UNICORN IN THAT CATEGORY 1871 01:08:16,680 --> 01:08:20,960 BECAUSE AS FAR AS WE KNOW ME 1872 01:08:20,960 --> 01:08:22,440 THE ONLY ONE IN AMERICA 1873 01:08:22,440 --> 01:08:24,280 COUNTRY WITH MY SPECIFICITY 1874 01:08:24,280 --> 01:08:25,600 GENOTYPE. 1875 01:08:25,600 --> 01:08:28,320 IF YOU KNOW ABOUT CF GENETICS, 1876 01:08:28,320 --> 01:08:30,520 THAT'S UNUSUAL. 1877 01:08:30,520 --> 01:08:32,840 I WILL DESCRIBE MYSELF. 1878 01:08:32,840 --> 01:08:38,520 I AM A VERY THIN LIGHT 1879 01:08:38,520 --> 01:08:41,760 WHITE PEOPLE ARE RACE 1880 01:08:41,760 --> 01:08:43,000 WITH LONG STRAWBERRY -- DARK 1881 01:08:43,000 --> 01:08:44,760 BLONDE, DARK GREEN HAIR 1882 01:08:44,760 --> 01:08:46,360 EYES, BLACK EYE LINER, MISSING 1883 01:08:46,360 --> 01:08:48,840 ONE OF MY TWO FRONT TEETH, ME 1884 01:08:48,840 --> 01:08:50,400 PRETTY LOST ALL OF MY TEETH 1885 01:08:50,400 --> 01:08:52,600 BUT I DON'T HAVE PROSTHETICS 1886 01:08:52,600 --> 01:08:54,040 FRONT LEFT RIGHT POSITION 1887 01:08:54,040 --> 01:08:54,320 NOW. 1888 01:08:54,320 --> 01:08:56,800 I HAVE TWO RINGS ON MY RIGHT 1889 01:08:56,800 --> 01:08:58,200 nostrils. 1890 01:08:58,200 --> 01:09:02,800 WEAR A BLACK BLAZER WITH 1891 01:09:02,800 --> 01:09:05,520 THEY, THEIR PRONOUN PIN, BLACK 1892 01:09:05,520 --> 01:09:06,480 SHEATH DRESS, HUGE FAMOUS 1893 01:09:06,480 --> 01:09:07,200 CHEEKBONES. 1894 01:09:07,200 --> 01:09:09,920 YOU NOTE I SAID I WAS RACIAL 1895 01:09:09,920 --> 01:09:10,280 WHITE. 1896 01:09:10,280 --> 01:09:18,040 I HAVE THAT MULTI-RACIAL LINEAGE 1897 01:09:18,040 --> 01:09:20,760 HALF AND HALF PRIVATE 1898 01:09:20,760 --> 01:09:23,600 AMERICA, AMERICA EUROPE. 1899 01:09:23,600 --> 01:09:28,720 SPERM DONORS ARE MULTI-ETHNIC 1900 01:09:28,720 --> 01:09:30,440 NATCHEZ RIVER, EGYPT, 1901 01:09:30,440 --> 01:09:33,080 SICILIAL HERITAGE, SOME AFRICA 1902 01:09:33,080 --> 01:09:35,280 DESCENDANTS OF AMERICAN SLAVES 1903 01:09:35,280 --> 01:09:36,040 ANCESTORS, MY MOTHER'S FAMILY 1904 01:09:36,040 --> 01:09:39,160 WHO I AM CONNECTED WITH BOTH SOCIALLY 1905 01:09:39,160 --> 01:09:41,200 AND BY BLOOD IS GERMAN AND 1906 01:09:41,200 --> 01:09:47,360 DANISH ON HIS MOTHER'S SIDE, DAN 1907 01:09:47,360 --> 01:09:51,520 TUSCARORA AND SCOTT, AND ME 1908 01:09:51,520 --> 01:09:55,080 FATHER'S FAMILY, WEST SLAVIC, 1909 01:09:55,080 --> 01:10:07,480 100% ETHNIC POLAND CATHOLIC. 1910 01:10:07,480 --> 01:10:09,240 I AM RARELY MULTI-ETHNIC 1911 01:10:09,240 --> 01:10:11,480 GENETIC MUTATION, NOT ELIGIBLE 1912 01:10:11,480 --> 01:10:13,160 FOR NEXT GENE DRUGS, PROTEIN 1913 01:10:13,160 --> 01:10:14,560 WHAT MODULATOR SHOULD BE 1914 01:10:14,560 --> 01:10:17,280 HELP 90% OF CF COMPLETE 1915 01:10:17,280 --> 01:10:17,760 COMMUNITY. 1916 01:10:17,760 --> 01:10:19,840 WELL, THERE IS NO MODULATOR FOR 1917 01:10:19,840 --> 01:10:20,280 I AM. 1918 01:10:20,280 --> 01:10:21,480 THERE'S ANOTHER THING TO COME 1919 01:10:21,480 --> 01:10:22,960 TO THE PIPE FOR ME. 1920 01:10:22,960 --> 01:10:26,480 FOR MY COLLEAGUES WHO ARE IN APA 1921 01:10:26,480 --> 01:10:35,360 WE CALL THE 10% COMMUNITY, ME 1922 01:10:35,360 --> 01:10:37,560 NEURODIVERGEN, SURVIVOR OF 1923 01:10:37,560 --> 01:10:38,440 INTIMATE PARTNER VIOLENCE, 1924 01:10:38,440 --> 01:10:38,760 SEXUAL ABUSE. 1925 01:10:38,760 --> 01:10:40,880 SO I HAVE A VARIETY OF FEATURES 1926 01:10:40,880 --> 01:10:43,120 IT MAKES ME A LITTLE 1927 01:10:43,120 --> 01:10:46,280 UNIQUE, WHAT ENABLES ME 1928 01:10:46,280 --> 01:10:48,720 IDENTIFY CERTAIN OBSTACLES 1929 01:10:48,720 --> 01:10:49,440 AFFIRMATION OF INCLUSION AND 1930 01:10:49,440 --> 01:10:51,480 JUSTICE FOR PEOPLE WITH C F AND 1931 01:10:51,480 --> 01:10:53,040 PEOPLE WITH RARE DISEASES IN 1932 01:10:53,040 --> 01:10:54,760 PUBLIC WHO PARTICIPATE IN 1933 01:10:54,760 --> 01:10:55,880 RESEARCH, SO MY RESULTS ARE FOR ALL 1934 01:10:55,880 --> 01:10:58,880 FROM YOU BEFORE US TO NEXT 1935 01:10:58,880 --> 01:11:01,000 SPEAKER IS IF YOU WANT IT 1936 01:11:01,000 --> 01:11:03,520 GET A GOOD UNDERSTANDING OF HOW 1937 01:11:03,520 --> 01:11:06,560 TO MAKE RESEARCH ACCESSIBLE AND 1938 01:11:06,560 --> 01:11:08,680 A GIFT, FOR RARE PEOPLE 1939 01:11:08,680 --> 01:11:11,800 DISEASES, DIVERSITY CORNER 1940 01:11:11,800 --> 01:11:13,680 That DR. THE BONHAMS OFFERED ARE 1941 01:11:13,680 --> 01:11:15,440 IMPORTANT BUT THAT'S WHAT YOU ARE 1942 01:11:15,440 --> 01:11:15,640 START. 1943 01:11:15,640 --> 01:11:17,400 YOU DON'T HAVE TO JUST TAKE US IN 1944 01:11:17,400 --> 01:11:20,080 TABLE BUT INVOLVE US STRONGLY 1945 01:11:20,080 --> 01:11:24,600 AT EVERY STAGE, IN PLANNING, 1946 01:11:24,600 --> 01:11:26,040 IMPLEMENTATION AND ANALYSIS 1947 01:11:26,040 --> 01:11:28,080 RESEARCH AND YOU SHOULD BE INVOLVED A 1948 01:11:28,080 --> 01:11:30,400 OUR VARIOUS GROUPS STRONGLY 1949 01:11:30,400 --> 01:11:34,120 BECAUSE IF YOU HAVE MET ONE OF 1950 01:11:34,120 --> 01:11:48,240 US, YOU HAVE MEET ONE OF US. 1951 01:11:48,240 --> 01:11:50,760 >> I'M MICHELE TAKEMOTO, ME 1952 01:11:50,760 --> 01:11:56,760 PRONOUNS ARE HE, HE. 1953 01:11:56,760 --> 01:11:57,680 GENETIC COUNSELOR WITH 1954 01:11:57,680 --> 01:12:00,280 HAWAII DEPARTMENT OF HEALTH. 1955 01:12:00,280 --> 01:12:01,320 A LITTLE BACKGROUND ABOUT 1956 01:12:01,320 --> 01:12:03,880 THE PROGRAM I'M WORKING ON, LAYERS 1957 01:12:03,880 --> 01:12:06,200 PROGRAM, I'M GENETIC 1958 01:12:06,200 --> 01:12:07,640 COUNSELOR WITH HAWAII 1959 01:12:07,640 --> 01:12:10,960 DEPARTMENT OF HEALTH, AND 1960 01:12:10,960 --> 01:12:13,480 HAWAII DEPARTMENT OF HEALTH 1961 01:12:13,480 --> 01:12:15,480 THE GENETIC PROGRAM APPLIES AS 1962 01:12:15,480 --> 01:12:17,320 LEAD FOR ORGANIZATIONS 1963 01:12:17,320 --> 01:12:22,440 WESTERN COUNTIES REGIONAL GENETICS 1964 01:12:22,440 --> 01:12:23,440 NETWORK. 1965 01:12:23,440 --> 01:12:25,480 THERE ARE SEVEN NETWORKS AROUND 1966 01:12:25,480 --> 01:12:26,400 COUNTRY, AND OUR LOCATION 1967 01:12:26,400 --> 01:12:30,000 HERE ON THE WEST COAST. 1968 01:12:30,000 --> 01:12:32,080 AND THE GENETICS OF EACH REGION 1969 01:12:32,080 --> 01:12:34,680 ITS TASK NETWORK 1970 01:12:34,680 --> 01:12:38,680 IMPROVING ACCESS TO GENETICS 1971 01:12:38,680 --> 01:12:40,200 SERVICE TO THE UNSERVED 1972 01:12:40,200 --> 01:12:40,480 POPULATION. 1973 01:12:40,480 --> 01:12:43,360 ONE OF OUR PROJECTS AS 1974 01:12:43,360 --> 01:12:46,160 WESTERN COUNTIES REGIONAL GENETICS 1975 01:12:46,160 --> 01:12:47,800 THE TISSUE IS A GENETIC MINORITY 1976 01:12:47,800 --> 01:12:52,840 PROFESSIONAL NETWORKING, MUCH 1977 01:12:52,840 --> 01:13:00,600 NETWORK. 1978 01:13:00,600 --> 01:13:01,360 GENETIC COUNSELING 1979 01:13:01,360 --> 01:13:03,760 THE PROFESSION HAS BEEN ABOUT 50 1980 01:13:03,760 --> 01:13:05,800 YEARS, 90% WHITE AND WOMEN, FOR 1981 01:13:05,800 --> 01:13:07,720 MOST OF THE TIME. 1982 01:13:07,720 --> 01:13:10,320 SO LACK OF DIVERSITY 1983 01:13:10,320 --> 01:13:22,360 PROVIDING BARRIERS TO THE SERVICE 1984 01:13:22,360 --> 01:13:23,040 FOR MINORATIZED COMMUNITIES, 1985 01:13:23,040 --> 01:13:26,560 INFLUENCE QUALITY AT LEVEL 1986 01:13:26,560 --> 01:13:28,080 CULTURAL COMPETENCY, HUMILITY, 1987 01:13:28,080 --> 01:13:35,480 IT COULD BE A PROBLEM WITHIN 1988 01:13:35,480 --> 01:13:35,800 FIELD. 1989 01:13:35,800 --> 01:13:37,320 OTHER ASPECTS OF OUR WORK WITH 1990 01:13:37,320 --> 01:13:38,960 POSSIBLE WESTERN STATES REGION 1991 01:13:38,960 --> 01:13:42,440 BE INTERESTING FOR OUR AUDIENCE, 1992 01:13:42,440 --> 01:13:46,480 WE WORK WITH FAMILY ADVOCACY 1993 01:13:46,480 --> 01:13:46,800 ORGANIZATION. 1994 01:13:46,800 --> 01:13:48,240 THERE ARE SPECIAL CATEGORIES, 1995 01:13:48,240 --> 01:13:50,320 PARENT TRAINING AND INFORMATION 1996 01:13:50,320 --> 01:13:53,680 FAMILY CENTER 2 FAMILY HEALTH 1997 01:13:53,680 --> 01:13:54,880 INFORMATION CENTER, FAMILY 1998 01:13:54,880 --> 01:13:57,440 VOICE, AND ALL THIS 1999 01:13:57,440 --> 01:13:59,600 ORGANIZATION, THEY ARE NOT LIKE 2000 01:13:59,600 --> 01:14:02,880 RARE DISEASES COMMUNITIES WHERE 2001 01:14:02,880 --> 01:14:06,280 THEY FOCUS ON SPECIFIC DISEASES, 2002 01:14:06,280 --> 01:14:07,560 SPECIAL CONDITIONS. 2003 01:14:07,560 --> 01:14:09,440 THEY ARE AVAILABLE FOR ALL 2004 01:14:09,440 --> 01:14:11,960 FAMILIES WITH CHILDREN WITH 2005 01:14:11,960 --> 01:14:13,160 SPECIAL, SPECIFIC HEALTH NEEDS -- 2006 01:14:13,160 --> 01:14:15,800 A LOT OF IT IS GENETIC 2007 01:14:15,800 --> 01:14:19,200 REQUIRED, BUT SOME ARE NOT. 2008 01:14:19,200 --> 01:14:22,160 AND THIS ORGANIZATION WAS CREATED 2009 01:14:22,160 --> 01:14:24,320 UP PARENT CHILD WITH 2010 01:14:24,320 --> 01:14:25,080 SPECIAL HEALTH NEEDS, AND SO ON 2011 01:14:25,080 --> 01:14:28,160 THEY ARE ACTUAL PEOPLE 2012 01:14:28,160 --> 01:14:29,120 RUNNING THIS ORGANIZATION. 2013 01:14:29,120 --> 01:14:32,440 AND THEY HELP TRAIN OTHERS 2014 01:14:32,440 --> 01:14:34,000 PARENTS IN BECOMING ADVOCATES 2015 01:14:34,000 --> 01:14:34,840 YOURSELF, IF ANY 2016 01:14:34,840 --> 01:14:38,120 INTERESTED IN GOING DOWN IT 2017 01:14:38,120 --> 01:14:38,440 TRACK. 2018 01:14:38,440 --> 01:14:42,240 AND THEY HELP PARENTS AND 2019 01:14:42,240 --> 01:14:44,160 FAMILIES NAVIGING THE LEGAL SYSTEM, 2020 01:14:44,160 --> 01:14:46,400 EDUCATION SYSTEM, HEALTH CARE 2021 01:14:46,400 --> 01:14:48,600 SYSTEM, TO ENSURE THAT 2022 01:14:48,600 --> 01:14:51,240 CHILDREN AND THEIR FAMILIES AS A 2023 01:14:51,240 --> 01:14:53,080 GET THE ENTIRE SERVICE 2024 01:14:53,080 --> 01:14:55,680 WHAT THEY NEED, SERVICE 2025 01:14:55,680 --> 01:14:58,240 THAT THEY LEGALLY HAVE THE RIGHT TO 2026 01:14:58,240 --> 01:15:02,920 FOR, AND ENSURE THAT THEY 2027 01:15:02,920 --> 01:15:04,440 CHILDREN BE OPTIMAL 2028 01:15:04,440 --> 01:15:06,680 HEALTH SERVICES THAT MAY INVOLVE 2029 01:15:06,680 --> 01:15:07,360 INTERACTING WITH GENETICS 2030 01:15:07,360 --> 01:15:09,600 SERVICE. 2031 01:15:09,600 --> 01:15:11,760 2032 01:15:11,760 --> 01:15:16,480 SO, THERE ARE SEVERAL LAYERS 2033 01:15:16,480 --> 01:15:19,200 CHALLENGES TO ACCESSING GENETICS 2034 01:15:19,200 --> 01:15:22,240 SERVICES, PARTICULARLY FOR 2035 01:15:22,240 --> 01:15:24,480 FAMILIES OF RACE ORIGIN 2036 01:15:24,480 --> 01:15:26,080 AND ETHNIC MINORITY BACKGROUND. 2037 01:15:26,080 --> 01:15:31,680 SOME OF THESE THINGS MAY BE RELATED TO 2038 01:15:31,680 --> 01:15:34,080 IMMIGRATION GENERATION, 2039 01:15:34,080 --> 01:15:36,240 LANGUAGE CHALLENGES, AND A 2040 01:15:36,240 --> 01:15:39,200 LACK OF GENERAL CONFIDENTIALITY WITH 2041 01:15:39,200 --> 01:15:40,400 GENETIC SERVICES. 2042 01:15:40,400 --> 01:15:42,920 Lack of familiarity with 2043 01:15:42,920 --> 01:15:44,440 TRUE GENETIC SERVICES 2044 01:15:44,440 --> 01:15:50,240 SOMETHING THAT -- THAT CUT 2045 01:15:50,240 --> 01:15:53,200 THE ENTIRE ECONOMY 2046 01:15:53,200 --> 01:15:54,400 BACKGROUND, RACE AND ETHNICITY 2047 01:15:54,400 --> 01:15:54,680 BACKGROUND. 2048 01:15:54,680 --> 01:15:56,880 MOST PEOPLE DON'T KNOW WHAT A 2049 01:15:56,880 --> 01:15:58,000 A GENETIC COUNSELOR IS. 2050 01:15:58,000 --> 01:16:00,400 AND GENETIC DISCLAIMER 2051 01:16:00,400 --> 01:16:02,600 TESTS CAN BE ANXIETY 2052 01:16:02,600 --> 01:16:03,120 PROVOCATE. 2053 01:16:03,120 --> 01:16:04,760 FOR SOME FAMILIES THERE MAY BE 2054 01:16:04,760 --> 01:16:06,520 CONCERNS ABOUT FEELINGS OF GUILT 2055 01:16:06,520 --> 01:16:08,040 IF THEY KNEW THAT IT WAS A CONDITION 2056 01:16:08,040 --> 01:16:10,080 RUNS IN THE FAMILY AND THEM 2057 01:16:10,080 --> 01:16:12,000 WORRY THEY HAVE 2058 01:16:12,000 --> 01:16:16,120 HARMING THEIR CHILDREN WITH THEM 2059 01:16:16,120 --> 01:16:16,640 GENETICS. 2060 01:16:16,640 --> 01:16:18,080 WE ARE TRYING TO EMPHASIZE WE ARE NOT 2061 01:16:18,080 --> 01:16:20,920 CONTROL WHAT WE INHERIT OR WHAT 2062 01:16:20,920 --> 01:16:22,360 WE'RE LIVE. 2063 01:16:22,360 --> 01:16:25,560 THERE MAY ALSO BE CONCERNS ABOUT 2064 01:16:25,560 --> 01:16:26,880 GENETIC TEST COSTS. 2065 01:16:26,880 --> 01:16:28,480 MOST PEOPLE HAVE AN IMPRESSION 2066 01:16:28,480 --> 01:16:30,440 WHICH COSTS THOUSANDS AND 2067 01:16:30,440 --> 01:16:31,640 THOUSANDS OF DOLLARS AND THAT 2068 01:16:31,640 --> 01:16:34,720 INSURANCE DOES NOT COVER IT. 2069 01:16:34,720 --> 01:16:36,080 BECAUSE IN MANY CASES NOW 2070 01:16:36,080 --> 01:16:38,600 INSURANCE COVERS IT. 2071 01:16:38,600 --> 01:16:40,680 AND THE COSTS THAT MAY BE INCURRED 2072 01:16:40,680 --> 01:16:41,640 BE VERY LOW. 2073 01:16:41,640 --> 01:16:43,280 AND THERE IS THAT PROGRAM 2074 01:16:43,280 --> 01:16:45,680 IT ACTUALLY HELPS PAY FOR GENETICS 2075 01:16:45,680 --> 01:16:49,240 TESTING SO THE COST CAN BE ZERO. 2076 01:16:49,240 --> 01:16:51,560 THERE MAY BE PROBLEMS WITH 2077 01:16:51,560 --> 01:16:52,520 TRANSPORTATION, IE 2078 01:16:52,520 --> 01:16:55,400 SOMETHING UP TO SEVERAL LEVELS 2079 01:16:55,400 --> 01:17:02,120 THE PANDEMIC HAS BEEN SOLVED 2080 01:17:02,120 --> 01:17:03,480 TELEHEALTH HAS BECOME MORE 2081 01:17:03,480 --> 01:17:05,880 PREVALENT BUT THERE CAN BE A 2082 01:17:05,880 --> 01:17:08,080 LACK OF INTERNET ACCESS OR A 2083 01:17:08,080 --> 01:17:09,240 LACK OF DEVICE, PERIOD, FOR 2084 01:17:09,240 --> 01:17:12,680 SOMEONE WITH A FLIP PHONE, THEM 2085 01:17:12,680 --> 01:17:14,840 CANNOT ACCESS TELEHEALTH AT ALL. 2086 01:17:14,840 --> 01:17:20,400 HERE IN HAWAII WE HAVE MANY 2087 01:17:20,400 --> 01:17:21,080 TELEHEALTH INTERACTION WITH 2088 01:17:21,080 --> 01:17:22,120 A FAMILY ON A NEIGHBORING ISLAND 2089 01:17:22,120 --> 01:17:25,120 ON THE SIDE OF THE ROAD AT A 2090 01:17:25,120 --> 01:17:27,480 MINIVAN TRIED TO DISABLE WI-FI 2091 01:17:27,480 --> 01:17:29,480 BUSINESS NEAR. 2092 01:17:29,480 --> 01:17:33,040 SO, THERE ARE A VARIETY 2093 01:17:33,040 --> 01:17:34,840 LOGISTICS AND BARRIERS 2094 01:17:34,840 --> 01:17:36,000 EMOTIONAL, LANGUAGE BARRIERS 2095 01:17:36,000 --> 01:17:36,640 Obstacles. 2096 01:17:36,640 --> 01:17:42,080 I DON'T MENTION THE LANGUAGE THERE. 2097 01:17:42,080 --> 01:17:49,600 HOWEVER, IT'S NOT IMPORTANT 2098 01:17:49,600 --> 01:17:51,040 FOR PIGEONHOLE AND STEREOTYPES 2099 01:17:51,040 --> 01:17:52,560 LACKING FAMILY 2100 01:17:52,560 --> 01:17:54,240 UNDERSTANDING GENETICS 2101 01:17:54,240 --> 01:17:56,320 GENETIC TESTING AND SERVICES. 2102 01:17:56,320 --> 01:17:57,920 SO, MOVE TO 2103 01:17:57,920 --> 01:18:01,160 CHALLENGES ON THE PROVIDER SIDE, 2104 01:18:01,160 --> 01:18:02,640 VERY OFTEN THERE ARE ASSUMPTIONS 2105 01:18:02,640 --> 01:18:05,320 THAT CERTAIN COMMUNITY 2106 01:18:05,320 --> 01:18:06,520 PEOPLE FROM A CERTAIN SOCIETY 2107 01:18:06,520 --> 01:18:09,920 JUST NOT INTERESTED 2108 01:18:09,920 --> 01:18:10,280 GENETIC TESTS. 2109 01:18:10,280 --> 01:18:12,320 AND SO IT'S ALMOST USELESS 2110 01:18:12,320 --> 01:18:13,200 ON THEIR ARRIVAL TO 2111 01:18:13,200 --> 01:18:15,680 APPOINTMENT BECAUSE THEY DON'T 2112 01:18:15,680 --> 01:18:20,000 WILL -- NO ABSORPTION 2113 01:18:20,000 --> 01:18:22,160 GENETIC SERVICES. 2114 01:18:22,160 --> 01:18:25,880 AND AGAIN WITH A DIFFERENT ONE 2115 01:18:25,880 --> 01:18:27,200 IMMIGRATION GENERATION, 2116 01:18:27,200 --> 01:18:28,720 THOSE ASSUMPTIONS BECOME LESS 2117 01:18:28,720 --> 01:18:31,880 AND LESS TRUE, LIKE PEOPLE FROM 2118 01:18:31,880 --> 01:18:32,880 DIFFERENT IMMIGRANT COMMUNITIES 2119 01:18:32,880 --> 01:18:36,680 IT'S HERE IN THE U.S. MORE THAN MORE 2120 01:18:36,680 --> 01:18:37,000 GENERATION. 2121 01:18:37,000 --> 01:18:39,080 AND THERE CAN ALSO BE 2122 01:18:39,080 --> 01:18:40,400 ASSUMPTIONS PEOPLE MAKE 2123 01:18:40,400 --> 01:18:44,120 LACK OF EDUCATION AND LACK OF 2124 01:18:44,120 --> 01:18:46,080 WESTERN EDUCATION WILL NOT 2125 01:18:46,080 --> 01:18:47,320 UNDERSTAND THE EXPLANATION 2126 01:18:47,320 --> 01:18:48,680 ABOUT GENETIC TESTS, AT THAT TIME 2127 01:18:48,680 --> 01:18:51,720 IT'S REALLY ON THE PROVIDER WHO MAKES IT 2128 01:18:51,720 --> 01:18:53,640 THEY WILL EXPLAIN THINGS INSIDE 2129 01:18:53,640 --> 01:18:56,480 THE RIGHT WAY SO 2130 01:18:56,480 --> 01:18:58,280 PATIENTS CAN UNDERSTAND, AND 2131 01:18:58,280 --> 01:18:59,640 LACK OF EDUCATION IS NOT 2132 01:18:59,640 --> 01:19:01,040 EQUIVALENT TO LACK 2133 01:19:01,040 --> 01:19:01,840 INTELLIGENCE. 2134 01:19:01,840 --> 01:19:04,000 THERE MAY ALSO BE ASSUMPTIONS 2135 01:19:04,000 --> 01:19:07,520 IT'S ON THE PROVIDER'S SIDE 2136 01:19:07,520 --> 01:19:08,640 INSURANCE WILL NOT COVER TESTING. 2137 01:19:08,640 --> 01:19:12,720 AND THAT DOESN'T ALWAYS HAPPEN. 2138 01:19:12,720 --> 01:19:14,080 AND PEOPLE HAVE DIFFERENT ONES 2139 01:19:14,080 --> 01:19:14,680 INSURANCE PLAN. 2140 01:19:14,680 --> 01:19:17,760 AND SO IF THAT'S PLAN A 2141 01:19:17,760 --> 01:19:24,000 THE PROVIDER DOESN'T KNOW, 2142 01:19:24,000 --> 01:19:26,160 (NOT VISIBLE) AND ALSO WITH 2143 01:19:26,160 --> 01:19:29,040 INSURANCE MAY HAVE PROBLEMS 2144 01:19:29,040 --> 01:19:30,320 WITH IMPLICIT BIAS, WHERE A 2145 01:19:30,320 --> 01:19:34,480 PROVIDERS MAY NOT JOIN 2146 01:19:34,480 --> 01:19:36,080 INSURANCE COMPANIES, LIKE 2147 01:19:36,080 --> 01:19:40,040 FOR SOMEONE FROM ONE COMMUNITY 2148 01:19:40,040 --> 01:19:42,360 VERSUS OTHERS. 2149 01:19:42,360 --> 01:19:44,280 OR EXPLORE BY GENETICS 2150 01:19:44,280 --> 01:19:46,560 TESTING LABS ARE VERY OFTEN THERE 2151 01:19:46,560 --> 01:19:48,200 CAN BE A DISCOUNT PROGRAM OR 2152 01:19:48,200 --> 01:19:53,880 COVER TESTING COSTS 2153 01:19:53,880 --> 01:19:54,240 COMPLETELY. 2154 01:19:54,240 --> 01:19:56,880 AND THE PROVIDER MAY HAVE A 2155 01:19:56,880 --> 01:19:58,400 PREFERENCES FOR PATIENTS FROM 2156 01:19:58,400 --> 01:19:59,800 COMMUNITY AND DIFFERENT POSSIBILITIES 2157 01:19:59,800 --> 01:20:01,520 PUSH HARDER FOR THE PATIENT FROM 2158 01:20:01,520 --> 01:20:02,880 DIFFERENT COMMUNITIES OR NOT 2159 01:20:02,880 --> 01:20:03,840 PUSH IT LIKE HARD. 2160 01:20:03,840 --> 01:20:07,040 AND THOSE PROBLEMS 2161 01:20:07,040 --> 01:20:10,280 WHICH CAN BE SMOOTH OR CLEAR 2162 01:20:10,280 --> 01:20:12,680 THERE MAY BE PROBLEMS WITH THE PROVIDER, 2163 01:20:12,680 --> 01:20:13,920 THE CLINICAL SIDE, AND 2164 01:20:13,920 --> 01:20:16,960 THAT'S ONE OF THE REASONS 2165 01:20:16,960 --> 01:20:20,160 MGPN WORKS VERY HARD 2166 01:20:20,160 --> 01:20:22,160 HELP INCREASE DIVERSITY IN 2167 01:20:22,160 --> 01:20:22,520 PROFESSION. 2168 01:20:22,520 --> 01:20:25,280 SO WE AS PROVIDERS LEARN FROM IT 2169 01:20:25,280 --> 01:20:27,240 EACH OTHER, THROUGH TRAINING AND 2170 01:20:27,240 --> 01:20:29,680 THROUGH INTERNAL COOPERATION 2171 01:20:29,680 --> 01:20:31,280 CLINIC, SOME OF THIS 2172 01:20:31,280 --> 01:20:34,880 POSSIBLE ASSUMPTIONS AND BIAS 2173 01:20:34,880 --> 01:20:36,680 CAN BE REDUCED. 2174 01:20:36,680 --> 01:20:39,320 ON THE MEDICAL SCIENTIFIC SIDE 2175 01:20:39,320 --> 01:20:42,680 IN CASE, THERE IS A PROBLEM 2176 01:20:42,680 --> 01:20:47,680 VARIANT OF UNKNOWN SIGNIFICANCE 2177 01:20:47,680 --> 01:20:49,280 OR THE SIGNIFICANCE IS UNSURE, WHERE 2178 01:20:49,280 --> 01:20:53,320 NOT MUCH RESEARCH 2179 01:20:53,320 --> 01:20:55,720 GENETIC RESEARCH SUBJECT, 2180 01:20:55,720 --> 01:20:57,240 WHICH IS NOT FROM EUROPE 2181 01:20:57,240 --> 01:20:59,040 MOST RESEARCH BACKGROUND 2182 01:20:59,040 --> 01:21:00,520 SUBJECTS ARE FROM EUROPE 2183 01:21:00,520 --> 01:21:03,080 BACKGROUND, AND SO GENETIC 2184 01:21:03,080 --> 01:21:08,200 VARIANTS NOT FOUND IN 2185 01:21:08,200 --> 01:21:09,640 EUROPEAN POPULATION, LESS 2186 01:21:09,640 --> 01:21:10,040 KNOWN. 2187 01:21:10,040 --> 01:21:12,800 SO IT RESULTS IN GENETICS 2188 01:21:12,800 --> 01:21:14,240 DOWNSTREAM TESTING FROM 2189 01:21:14,240 --> 01:21:17,480 RESEARCH DOESN'T PROVIDE TOO MUCH 2190 01:21:17,480 --> 01:21:19,680 INFORMATION FOR PEOPLE WITH 2191 01:21:19,680 --> 01:21:20,680 ANOTHER FROM OUTSIDE 2192 01:21:20,680 --> 01:21:20,880 EUROPE. 2193 01:21:20,880 --> 01:21:24,240 SO WHEN WE GET THE RESULTS BACK, 2194 01:21:24,240 --> 01:21:26,640 THERE CAN BE POSITIVE RESULTS 2195 01:21:26,640 --> 01:21:29,400 WHICH MEANS GENETIC CONDITIONS 2196 01:21:29,400 --> 01:21:31,600 FOUND, THE RESULT WAS NEGATIVE 2197 01:21:31,600 --> 01:21:35,080 WHICH MEANS THERE ARE NO GENETICS 2198 01:21:35,080 --> 01:21:37,400 CONDITION HAS BEEN FOUND. 2199 01:21:37,400 --> 01:21:39,520 IT DOESN'T HAVE TO BE MEANINGFUL 2200 01:21:39,520 --> 01:21:42,000 THAT THERE IS NO ONE. 2201 01:21:42,000 --> 01:21:44,280 VARIATIONS IN GENETIC TESTS 2202 01:21:44,280 --> 01:21:45,480 TECHNOLOGY IS EXTREME AND SOON 2203 01:21:45,480 --> 01:21:47,720 COULD THERE BE A CONDITION? 2204 01:21:47,720 --> 01:21:49,480 CAN BE FOUND THROUGH OTHERS 2205 01:21:49,480 --> 01:21:52,480 TEST, OR JUST THAT 2206 01:21:52,480 --> 01:21:55,320 THE TECHNOLOGY DID NOT EXIST, THAT 2207 01:21:55,320 --> 01:21:56,080 SCIENTIFIC KNOWLEDGE DOES NOT EXIST 2208 01:21:56,080 --> 01:21:56,680 YET. 2209 01:21:56,680 --> 01:22:01,200 AND TEST IT IN A FEW YEARS MAYBE 2210 01:22:01,200 --> 01:22:03,240 FIND ANSWERS. 2211 01:22:03,240 --> 01:22:05,080 UNSPECIFIED VARIANTS 2212 01:22:05,080 --> 01:22:06,240 ITS IMPORTANT SIGNIFICANCE A 2213 01:22:06,240 --> 01:22:07,240 MAY ANSWER. 2214 01:22:07,240 --> 01:22:10,240 GENES CAN BE CHANGED MANY 2215 01:22:10,240 --> 01:22:12,000 THERE ARE DIFFERENT WAYS, AND THERE ARE 2216 01:22:12,000 --> 01:22:13,080 SOME DIFFERENCES IN GENES WHERE 2217 01:22:13,080 --> 01:22:15,880 WE DON'T KNOW IF IT CAUSES A 2218 01:22:15,880 --> 01:22:18,880 HEALTH PROBLEMS OR NOT. 2219 01:22:18,880 --> 01:22:20,600 AND THEY AGAIN ARE 2220 01:22:20,600 --> 01:22:22,600 DISPROPORTIONALLY PREVALENT IN 2221 01:22:22,600 --> 01:22:23,760 RACIAL AND ETHNIC MINORITIES 2222 01:22:23,760 --> 01:22:25,680 SOCIETY, DUE TO LACK OF IT 2223 01:22:25,680 --> 01:22:27,480 PARTICIPATION IN RESEARCH. 2224 01:22:27,480 --> 01:22:29,080 AND I KNOW THE OTHER MEMBERS 2225 01:22:29,080 --> 01:22:34,960 THE PANEL WILL SAY MORE 2226 01:22:34,960 --> 01:22:37,600 ABOUT THAT. 2227 01:22:37,600 --> 01:22:39,560 AND THAT'S IMPORTANT 2228 01:22:39,560 --> 01:22:40,960 THE CLINIC EXPLAINS 2229 01:22:40,960 --> 01:22:42,160 THE DIFFERENCE BETWEEN POSITIVE, 2230 01:22:42,160 --> 01:22:44,120 NEGATIVE, UNKNOWN VARIANT 2231 01:22:44,120 --> 01:22:45,200 IMPORTANT, FOR THE PATIENT 2232 01:22:45,200 --> 01:22:48,160 BEFORE TESTING THEM 2233 01:22:48,160 --> 01:22:51,880 KNOW THEY'RE NOT VERY DISAPPOINTED 2234 01:22:51,880 --> 01:22:57,160 IF YOU GET NEGATIVE RESULTS OR 2235 01:22:57,160 --> 01:22:59,080 IT DOESN'T MAKE THEM BIG 2236 01:22:59,080 --> 01:23:03,040 ANXIETY OF GETTING POSSIBLE ANSWERS. 2237 01:23:03,040 --> 01:23:05,880 SO, I WISH THIS HAD HAPPENED 2238 01:23:05,880 --> 01:23:07,200 USEFUL INFORMATION FOR US 2239 01:23:07,200 --> 01:23:07,560 AUDIENCE. 2240 01:23:07,560 --> 01:23:09,360 IF ANYONE WANT TO QUESTION ME 2241 01:23:09,360 --> 01:23:11,680 CONTACT INFORMATION IS HERE AND 2242 01:23:11,680 --> 01:23:13,480 ALSO ON THE WHOVA APP. 2243 01:23:13,480 --> 01:23:16,480 THANK YOU VERY MUCH. 2244 01:23:16,480 --> 01:23:22,440 2245 01:23:22,440 --> 01:23:27,440 2246 01:23:27,440 --> 01:23:28,760 >> HELLO, I'M AISHA LANGFORD, 2247 01:23:28,760 --> 01:23:30,840 EXCITED TO SHARE ME 2248 01:23:30,840 --> 01:23:33,880 PERSPECTIVES AND RESEARCH ON 2249 01:23:33,880 --> 01:23:36,080 HOW TO INCREASE DIVERSITY, 2250 01:23:36,080 --> 01:23:36,680 EQUITY, INCLUSION AND 2251 01:23:36,680 --> 01:23:38,920 ACCESSIBILITY IN CLINICAL TRIALS 2252 01:23:38,920 --> 01:23:41,680 IN GENERAL, IMPLICATIONS RARELY OCCUR 2253 01:23:41,680 --> 01:23:43,080 SPECIFIC DISEASES. 2254 01:23:43,080 --> 01:23:44,840 AS YOU KNOW, CLINICAL 2255 01:23:44,840 --> 01:23:47,320 THE TEST IS VERY DIFFERENT FROM 2256 01:23:47,320 --> 01:23:48,520 FACING THE CLINICAL PHASE 2257 01:23:48,520 --> 01:23:51,360 EXAM, MODALITY TIME, 2258 01:23:51,360 --> 01:23:55,200 SO WHAT WE TALKED ABOUT 2259 01:23:55,200 --> 01:23:56,160 MEDICINE, SURGERY, GENETICS, 2260 01:23:56,160 --> 01:23:57,800 THERE ARE DIFFERENT WAYS YOU CAN 2261 01:23:57,800 --> 01:23:59,480 CLINICAL TRIALS AND 2262 01:23:59,480 --> 01:24:00,960 THERE ARE DIFFERENT TARGET 2263 01:24:00,960 --> 01:24:01,240 POPULATION. 2264 01:24:01,240 --> 01:24:05,560 SO PUT THAT BEHIND US 2265 01:24:05,560 --> 01:24:07,600 MIND. 2266 01:24:07,600 --> 01:24:09,440 THIS SLIDE HERE IS EXTENSIVE 2267 01:24:09,440 --> 01:24:11,480 GENERAL CONCEPTUAL MODEL I 2268 01:24:11,480 --> 01:24:13,920 HAS BEEN PUBLISHED IN A JOURNAL 2269 01:24:13,920 --> 01:24:15,200 HEALTH COMMUNICATION IN LAST YEARS. 2270 01:24:15,200 --> 01:24:16,720 AND AS YOU CAN SEE THERE IS A 2271 01:24:16,720 --> 01:24:18,600 MANY BULLETS, I WON'T DO THAT 2272 01:24:18,600 --> 01:24:24,240 CHECK EVERY INCOMING BULLET 2273 01:24:24,240 --> 01:24:26,880 THIS MODEL BUT CLINICAL TRIALS 2274 01:24:26,880 --> 01:24:28,200 FROM THE BEGINNING 2275 01:24:28,200 --> 01:24:29,800 SOMEONE ACTUALLY KNOWS THAT A 2276 01:24:29,800 --> 01:24:32,680 CLINICAL TRIALS AVAILABLE ON 2277 01:24:32,680 --> 01:24:33,360 ACTUALLY SIGN UP AND STAY 2278 01:24:33,360 --> 01:24:35,240 IN CLINICAL TRIALS TO THE END 2279 01:24:35,240 --> 01:24:37,200 CAN IT BE A LONG PROCESS? 2280 01:24:37,200 --> 01:24:39,720 WITH MANY THINGS IN BETWEEN. 2281 01:24:39,720 --> 01:24:42,320 I ALWAYS WANT TO REMEMBER 2282 01:24:42,320 --> 01:24:45,240 RESEARCH AND HEALTH CARE 2283 01:24:45,240 --> 01:24:47,200 PROVIDERS SHOULD PAY ATTENTION 2284 01:24:47,200 --> 01:24:50,120 CLINICAL TRIAL CHARACTERISTICS 2285 01:24:50,120 --> 01:24:51,200 AND PROTOCOL LOAD, POTENTIAL 2286 01:24:51,200 --> 01:24:53,040 ACCEPTED BY PATIENTS. 2287 01:24:53,040 --> 01:24:56,640 ALSO TO TRULY UNDERSTAND YOU 2288 01:24:56,640 --> 01:24:57,480 PATIENT CHARACTERISTICS OR 2289 01:24:57,480 --> 01:24:59,160 OUR TARGET AUDIENCE 2290 01:24:59,160 --> 01:25:00,560 PEOPLE CAN DESIGN TRIALS 2291 01:25:00,560 --> 01:25:01,760 ACTUALLY DO IT. 2292 01:25:01,760 --> 01:25:03,760 AND THAT PATIENT'S PERSPECTIVE 2293 01:25:03,760 --> 01:25:04,840 AND THE FAMILY'S PERSPECTIVE IS 2294 01:25:04,840 --> 01:25:07,760 INTEGRATED IN SEVERAL 2295 01:25:07,760 --> 01:25:11,680 END POINT AND FOCUS SIZE 2296 01:25:11,680 --> 01:25:12,680 WHAT WE EXPLORE. 2297 01:25:12,680 --> 01:25:15,160 IN THE SAME PAPER PUBLISHED IN 2298 01:25:15,160 --> 01:25:16,520 HEALTH JOURNAL 2299 01:25:16,520 --> 01:25:18,840 COMMUNICATIONS, I'M GETTING OUT 2300 01:25:18,840 --> 01:25:20,800 ASK APPROACHES TO IMPROVE 2301 01:25:20,800 --> 01:25:23,080 CLINICAL TRIAL PARTICIPATION. 2302 01:25:23,080 --> 01:25:24,800 IT WAS ABSOLUTELY HUERISTIC AND 2303 01:25:24,800 --> 01:25:26,160 WARNING THAT IT IS VERY 2304 01:25:26,160 --> 01:25:28,560 IT IS IMPORTANT TO ENSURE THE PATIENT 2305 01:25:28,560 --> 01:25:30,480 SCREENED PROPERLY 2306 01:25:30,480 --> 01:25:31,640 ELIGIBLE AND ACTUALLY REQUESTED. 2307 01:25:31,640 --> 01:25:34,080 THERE IS A GOOD BODY OF RESEARCH 2308 01:25:34,080 --> 01:25:36,320 IT SHOWS ONE OF THE GREATEST 2309 01:25:36,320 --> 01:25:39,160 REASON THE PATIENT DOES NOT 2310 01:25:39,160 --> 01:25:39,840 PARTICIPATE IN CLINICAL TRIALS 2311 01:25:39,840 --> 01:25:41,480 BECAUSE THEY NEVER REALIZE 2312 01:25:41,480 --> 01:25:43,080 CLINICAL TRIALS AVAILABLE. 2313 01:25:43,080 --> 01:25:45,200 AND THEY ARE NEVER EXPRESSIVE 2314 01:25:45,200 --> 01:25:47,840 ASKED TO PARTICIPATE. 2315 01:25:47,840 --> 01:25:50,880 SO, THE "A" IN ASK STARTS WITH 2316 01:25:50,880 --> 01:25:51,120 ASSUMPTIONS. 2317 01:25:51,120 --> 01:25:52,320 DO NOT ASSUME THAT 2318 01:25:52,320 --> 01:25:55,440 PATIENTS WILL 2319 01:25:55,440 --> 01:25:57,000 AUTOMATICALLY BECOMES AFRAID, OR 2320 01:25:57,000 --> 01:26:01,480 MISTAKE, OR NOT WANT 2321 01:26:01,480 --> 01:26:02,880 DO A TEST, ASSUME YOUR PATIENT 2322 01:26:02,880 --> 01:26:05,560 WANT TO KNOW OPTIONS AND 2323 01:26:05,560 --> 01:26:08,920 CLINICAL TRIALS FOR MANY ARE AN 2324 01:26:08,920 --> 01:26:09,680 OPTIONAL, LET'S ASSUME THEY WANT IT 2325 01:26:09,680 --> 01:26:11,080 TO KNOW ALL THEIR OPTIONS. 2326 01:26:11,080 --> 01:26:14,440 WE WANT TO ENSURE US 2327 01:26:14,440 --> 01:26:16,280 SEEK ADVICE FROM STAKEHOLDERS. 2328 01:26:16,280 --> 01:26:18,000 STAKEHOLDERS ARE OFTEN THINKED ABOUT 2329 01:26:18,000 --> 01:26:20,400 AS A PATIENT IN THE FAMILY, IN 2330 01:26:20,400 --> 01:26:23,560 CLINICAL, IT'S ALL SO 2331 01:26:23,560 --> 01:26:23,840 IMPORTANT. 2332 01:26:23,840 --> 01:26:25,560 IT DEPENDS ON WHO YOU TRY 2333 01:26:25,560 --> 01:26:26,960 TO REACH, AND WHERE YOU ARE 2334 01:26:26,960 --> 01:26:29,360 TRY TO REACH THEM, YOU MAY 2335 01:26:29,360 --> 01:26:31,560 WOULD LIKE TO CONSIDER PARTNERING WITH 2336 01:26:31,560 --> 01:26:33,960 YOUR MARKETING AND COMMUNICATIONS 2337 01:26:33,960 --> 01:26:35,040 PROFESSIONAL, DEPENDING ON HOW 2338 01:26:35,040 --> 01:26:38,240 YOU WILL INVITE PATIENTS, 2339 01:26:38,240 --> 01:26:39,880 IF YOU WOULD INVITE THEM 2340 01:26:39,880 --> 01:26:41,080 VIA THE PATIENT PORTAL, YOU 2341 01:26:41,080 --> 01:26:43,040 MAY NEED TO PARTNER WITH YOU 2342 01:26:43,040 --> 01:26:45,080 HEALTH INFORMATICS TEAM SO 2343 01:26:45,080 --> 01:26:46,680 REALLY BEING BROAD AND INCLUSIVE, 2344 01:26:46,680 --> 01:26:48,880 WHO DO YOU CONSIDER A 2345 01:26:48,880 --> 01:26:49,680 STAKEHOLDERS. 2346 01:26:49,680 --> 01:26:51,480 LASTLY, IT'S VERY IMPORTANT TO 2347 01:26:51,480 --> 01:26:52,440 KNOW YOUR NUMBERS. 2348 01:26:52,440 --> 01:26:54,240 AND KNOW THE NUMBERS YOU SHOULD DO 2349 01:26:54,240 --> 01:26:57,320 WITH YOU SHOULD KNOW WHAT 2350 01:26:57,320 --> 01:26:59,240 THEORETICAL SPEAR OF THE WHO 2351 01:26:59,240 --> 01:27:00,920 THE POTENTIAL MAY MEET THE REQUIREMENTS. 2352 01:27:00,920 --> 01:27:03,440 YOU NEED TO KNOW HOW MANY PEOPLE 2353 01:27:03,440 --> 01:27:04,640 IT'S ACTUALLY NEAR 2354 01:27:04,640 --> 01:27:05,640 AND INVITED. 2355 01:27:05,640 --> 01:27:08,680 YOU HAVE TO TAKE CARE OF IT 2356 01:27:08,680 --> 01:27:11,760 TRACK WHO RECEIVED OR 2357 01:27:11,760 --> 01:27:13,200 DECLINED, AND WHO'S INTERESTED 2358 01:27:13,200 --> 01:27:15,480 BUT IT DOESN'T MEET THE REQUIREMENTS OR ANYONE MAY 2359 01:27:15,480 --> 01:27:18,000 INTERESTED BUT CAN'T DO IT 2360 01:27:18,000 --> 01:27:19,960 BECAUSE OF THE CLINICAL HOURS 2361 01:27:19,960 --> 01:27:21,320 LIMITED UNTIL MONDAY 2362 01:27:21,320 --> 01:27:23,120 FRIDAY FROM 9 AM. UNTIL 4 p.m. AND 2363 01:27:23,120 --> 01:27:25,680 THEY WILL DO IT IF 2364 01:27:25,680 --> 01:27:26,520 THAT IT IS FLEXIBLE 2365 01:27:26,520 --> 01:27:27,720 APPOINTMENT, EXAMPLE IN 2366 01:27:27,720 --> 01:27:28,480 EVENING OR WEEKEND. 2367 01:27:28,480 --> 01:27:30,480 THAT'S THE TYPE OF NUMBERS 2368 01:27:30,480 --> 01:27:34,400 WHICH WE ARE TRYING TO CATCH IN ME 2369 01:27:34,400 --> 01:27:40,680 INSTITUTION IN OUR CLINIC 2370 01:27:40,680 --> 01:27:42,080 ANSWER TRANSLATION INSTITUTE 2371 01:27:42,080 --> 01:27:43,040 AND RECRUITMENT AND RETENTION 2372 01:27:43,040 --> 01:27:49,040 MY CORE IS CO-LEADING. 2373 01:27:49,040 --> 01:27:50,640 SICKLE CELL THERAPY AS 2374 01:27:50,640 --> 01:27:52,080 CLINICAL TRIAL EXAMPLE, YOU 2375 01:27:52,080 --> 01:27:54,080 MAYBE FAMILIAR WITH THIS 2376 01:27:54,080 --> 01:27:57,200 CLINICAL TRIALS STARTED 2377 01:27:57,200 --> 01:28:00,640 RECRUITMENT I BELIEVE IN 2014. 2378 01:28:00,640 --> 01:28:02,160 AND IN FEBRUARY 2021 THERE IS 2379 01:28:02,160 --> 01:28:04,680 IT'S A STORY ABOUT THIS GENE 2380 01:28:04,680 --> 01:28:07,640 SICKLE CELL THERAPY TRIAL 2381 01:28:07,640 --> 01:28:10,320 IT HAS BEEN STOPPED DUE TO TWO PATIENTS 2382 01:28:10,320 --> 01:28:10,720 DEVELOPING CANCER. 2383 01:28:10,720 --> 01:28:12,680 THINK IF YOU ARE A PARENT, A 2384 01:28:12,680 --> 01:28:14,920 PEOPLE IN THE WORLD WITH SCRICKES 2385 01:28:14,920 --> 01:28:16,120 CELL DISEASES, LOOK AT THIS 2386 01:28:16,120 --> 01:28:17,800 ARTICLES IN NEWSPAPERS OR 2387 01:28:17,800 --> 01:28:19,080 ARTICLE ON THE INTERNET, HOW DO YOU 2388 01:28:19,080 --> 01:28:20,520 WHAT YOU WILL FEEL AND WHAT YOU WILL DO 2389 01:28:20,520 --> 01:28:25,120 AND WHAT THE IMPLICATIONS ARE 2390 01:28:25,120 --> 01:28:31,040 MEANINGFUL FOR THE TEAM THAT RUNS THIS 2391 01:28:31,040 --> 01:28:31,680 TRIAL. 2392 01:28:31,680 --> 01:28:34,080 IT'S FEBRUARY 2021. 2393 01:28:34,080 --> 01:28:36,360 IN MARCH 2021 THERE IS 2394 01:28:36,360 --> 01:28:37,800 OTHER ARTICLES THAT CAME OUT ON 2395 01:28:37,800 --> 01:28:39,200 THAT "NEW YORK TIMES". 2396 01:28:39,200 --> 01:28:40,880 IT ACTUALLY SHOWS THAT THE SCRICK 2397 01:28:40,880 --> 01:28:43,600 CELL TREATMENT IS NOT RELATED TO 2398 01:28:43,600 --> 01:28:45,400 CANCER, RESEARCHERS SAY. 2399 01:28:45,400 --> 01:28:46,680 AGAIN, THOUGHTS ABOUT YOURSELF, 2400 01:28:46,680 --> 01:28:50,120 IF YOU ARE A PATIENT OR FAMILY 2401 01:28:50,120 --> 01:28:51,480 MEMBERS, EVEN CLINICIANS 2402 01:28:51,480 --> 01:28:52,560 FOLLOWING THIS GENE THERAPY 2403 01:28:52,560 --> 01:28:54,240 TRIAL, WHAT YOU WILL BE 2404 01:28:54,240 --> 01:28:56,640 THINK AND HOW YOU WILL BE 2405 01:28:56,640 --> 01:28:58,680 EXPLAIN THIS TO THE PATIENT IF 2406 01:28:58,680 --> 01:29:00,480 AT ALL. 2407 01:29:00,480 --> 01:29:01,600 AND THERE'S FINALLY 2408 01:29:01,600 --> 01:29:03,160 Kind of a HAPPY ENDING TO THIS 2409 01:29:03,160 --> 01:29:08,080 THE STORY IS, SO IN DECEMBER 2021 AS 2410 01:29:08,080 --> 01:29:10,120 YOU CAN SEE IT HERE, NATIONAL 2411 01:29:10,120 --> 01:29:11,880 INSTITUTE OF HEART, LUNGS AND BLOOD 2412 01:29:11,880 --> 01:29:15,160 HAD THIS AMAZING PRESS RELEASE 2413 01:29:15,160 --> 01:29:17,560 THAT THIS EXPERIMENTAL GENE 2414 01:29:17,560 --> 01:29:20,080 THERAPEUTIC APPROACHES SHOW PROMISE 2415 01:29:20,080 --> 01:29:22,360 TO RELIEVE THE PAIN AND I THINK 2416 01:29:22,360 --> 01:29:23,920 FOR PATIENTS AND FAMILIES WHO 2417 01:29:23,920 --> 01:29:25,520 SUFFERING FROM SICKLE CELL 2418 01:29:25,520 --> 01:29:28,080 THIS GIVES MANY HOPE FOR 2419 01:29:28,080 --> 01:29:28,240 THEY. 2420 01:29:28,240 --> 01:29:30,240 AND THE PAPER IS ACTUAL 2421 01:29:30,240 --> 01:29:31,560 PUBLISHED, IN NEW ENGLAND 2422 01:29:31,560 --> 01:29:33,000 JOURNAL OF MEDICINE, AND, AGAIN, 2423 01:29:33,000 --> 01:29:36,040 I WOULDN'T DO ALL OF THIS 2424 01:29:36,040 --> 01:29:38,440 ARTICLE WITH YOU BUT AS A NERDY 2425 01:29:38,440 --> 01:29:41,080 MY RESEARCHERS LOVE TO SEE 2426 01:29:41,080 --> 01:29:43,040 TABLE 1, WHO DEMOGRAPHICS 2427 01:29:43,040 --> 01:29:47,120 SUCCESSFUL IN THIS EXAM OR 2428 01:29:47,120 --> 01:29:47,520 SPECIAL TRIALS. 2429 01:29:47,520 --> 01:29:51,680 AND THERE ARE 35 PARTICIPANTS, 2430 01:29:51,680 --> 01:29:52,880 AND ABOUT 34 2431 01:29:52,880 --> 01:29:54,600 SELF-IDENTIFIED AS BLACK, AND 2432 01:29:54,600 --> 01:29:59,520 MEDIAN AGE 24 years, THINK 2433 01:29:59,520 --> 01:30:00,840 ON DIVERSITY, INCLUSION AND 2434 01:30:00,840 --> 01:30:02,800 EQUITY, THIS IS PROMISING TO ME 2435 01:30:02,800 --> 01:30:05,760 BECAUSE I KNOW THAT 2436 01:30:05,760 --> 01:30:07,680 SICKLE CELL DISEASE MAY AFFECT 2437 01:30:07,680 --> 01:30:08,920 MULTIPLE RACE AND ETHNICITY 2438 01:30:08,920 --> 01:30:12,960 GROUPS, BLACK AND BLACK ADULTS 2439 01:30:12,960 --> 01:30:15,080 GREATER RISK TO AMERICA 2440 01:30:15,080 --> 01:30:16,800 SUFFERING FROM SICKLE CELL FOR A 2441 01:30:16,800 --> 01:30:19,000 VARIOUS REASONS. 2442 01:30:19,000 --> 01:30:20,400 SO, AGAIN, THINK EVERYTHING 2443 01:30:20,400 --> 01:30:22,040 THIS NEWS AND PRESS ARTICLES 2444 01:30:22,040 --> 01:30:23,760 THE RELEASE I SHOW YOU, 2445 01:30:23,760 --> 01:30:25,280 THINK IF YOU A 2446 01:30:25,280 --> 01:30:26,880 CLINICAL AND YOU HAVE A PATIENT 2447 01:30:26,880 --> 01:30:29,680 THAT WALKS IN AND SAYS, HEY, 2448 01:30:29,680 --> 01:30:31,760 Dr. BOB, I READ THEM IN THE NEWS 2449 01:30:31,760 --> 01:30:33,480 FINDING A CURE FOR SICKLE CELL 2450 01:30:33,480 --> 01:30:35,160 DISEASE, HELP ME GET IT, I CAN'T 2451 01:30:35,160 --> 01:30:36,960 TAKE THIS PAIN LONGER. 2452 01:30:36,960 --> 01:30:38,520 IT WORKS, RIGHT? 2453 01:30:38,520 --> 01:30:40,200 HOW DO I GET IT? 2454 01:30:40,200 --> 01:30:42,040 THIS IS MY QUESTION 2455 01:30:42,040 --> 01:30:43,360 COLLEAGUES CAN CONNECT WITH 2456 01:30:43,360 --> 01:30:45,400 PATIENTS WHO PARTICIPATE IN THE RESEARCH AND 2457 01:30:45,400 --> 01:30:46,600 IN RARE CONDITION. 2458 01:30:46,600 --> 01:30:48,240 IF YOU ARE INTERESTED 2459 01:30:48,240 --> 01:30:51,160 LEARN A LITTLE MORE ABOUT 2460 01:30:51,160 --> 01:30:53,480 PROBLEMS IN PEDIATRIC GENE THERAPY 2461 01:30:53,480 --> 01:30:54,800 RESEARCH, PARTICULARLY IN EQUITY, 2462 01:30:54,800 --> 01:30:56,960 YOU MAY WANT TO WATCH THIS 2463 01:30:56,960 --> 01:30:58,680 YouTube VIDEOS. 2464 01:30:58,680 --> 01:31:00,680 I AM PART OF THE PEDIATRIC GENE 2465 01:31:00,680 --> 01:31:02,880 THERAPY WORKING GROUP AT NYU AND 2466 01:31:02,880 --> 01:31:04,600 WE EXPLICITLY TALK ABOUT THIS 2467 01:31:04,600 --> 01:31:05,680 LAST YEAR. 2468 01:31:05,680 --> 01:31:13,320 ACTUALLY IN 2020 AS PART OF US 2469 01:31:13,320 --> 01:31:15,120 LUNCH TIME SERIES. 2470 01:31:15,120 --> 01:31:16,960 IMAGINE YOU HAVE A CHILD WITH 2471 01:31:16,960 --> 01:31:18,160 SICKLE CELL DISEASE, AND YOU 2472 01:31:18,160 --> 01:31:19,680 WANT TO LEARN ABOUT YOU 2473 01:31:19,680 --> 01:31:20,520 CLINICAL TRIAL OPTIONS. 2474 01:31:20,520 --> 01:31:21,640 WHERE WOULD YOU GO? 2475 01:31:21,640 --> 01:31:24,000 WHO WOULD YOU ASK? 2476 01:31:24,000 --> 01:31:27,160 WHO WILL YOU HELP YOU FIND 2477 01:31:27,160 --> 01:31:27,400 OPTIONS? 2478 01:31:27,400 --> 01:31:29,760 THIS IS AN OPEN TRIAL 2479 01:31:29,760 --> 01:31:33,160 THE RECRUITMENT I FOUND 2480 01:31:33,160 --> 01:31:33,600 clinicaltrials.gov. 2481 01:31:33,600 --> 01:31:36,760 IT TESTS VERSUS MEDICINE 2482 01:31:36,760 --> 01:31:38,960 PLACEBO IN CHILDREN WHO HAVE 2483 01:31:38,960 --> 01:31:40,680 SICKLE CELL DISEASE, CHILDREN 2484 01:31:40,680 --> 01:31:43,200 MORE THAN 2, LESS THAN 15. 2485 01:31:43,200 --> 01:31:47,440 AND SO IF THE FAMILY IS POSSIBLE 2486 01:31:47,440 --> 01:31:50,680 BORED AT THE WEEKEND, NOT WATCHING 2487 01:31:50,680 --> 01:31:52,320 TO WATCH TIKTOK VIDEOS, 2488 01:31:52,320 --> 01:31:53,320 EXPLORE clinicaltrials.gov 2489 01:31:53,320 --> 01:31:54,840 THEY MAY GET THIS TEST 2490 01:31:54,840 --> 01:31:56,840 AND ASK THE DOCTOR WHAT SHOULD I DO 2491 01:31:56,840 --> 01:31:57,240 THIS? 2492 01:31:57,240 --> 01:31:59,760 THIS IS MY LAST SLIDE BUT A FEW 2493 01:31:59,760 --> 01:32:02,480 ABOUT PROBLEMS THAT HAVE ARISED AND 2494 01:32:02,480 --> 01:32:03,240 CHALLENGES IN CLINICAL TRIALS 2495 01:32:03,240 --> 01:32:06,200 WIDELY AND ALSO RARELY 2496 01:32:06,200 --> 01:32:10,120 DISEASE IS THE WAY TO EXPLAIN IT 2497 01:32:10,120 --> 01:32:11,560 RANDOMIZATION TO PATIENTS AND 2498 01:32:11,560 --> 01:32:13,280 FAMILY, HOW TO COMMUNICATE 2499 01:32:13,280 --> 01:32:14,200 UNCERTAINTY IS SO MANY 2500 01:32:14,200 --> 01:32:15,680 CLINICAL TRIALS MAINLY PHASE 2501 01:32:15,680 --> 01:32:17,480 1 AND PHASE 2 AND IN GENES 2502 01:32:17,480 --> 01:32:19,480 WE DO NOT ALWAYS CONDUCT THERAPY TRIALS 2503 01:32:19,480 --> 01:32:21,880 KNOW WHAT WILL HAPPEN. 2504 01:32:21,880 --> 01:32:23,080 THIS IS VERY EARLY. 2505 01:32:23,080 --> 01:32:25,360 WHAT IF THERE IS AUDIO/VISUAL 2506 01:32:25,360 --> 01:32:26,760 VERY HELPFUL SUPPORT FOR 2507 01:32:26,760 --> 01:32:29,160 IMPROVING INFORMED CONSENT? 2508 01:32:29,160 --> 01:32:31,680 AND FINALLY MANAGE 2509 01:32:31,680 --> 01:32:33,520 HOPE AND I ARE PART OF A 2510 01:32:33,520 --> 01:32:35,400 CONFERENCE A FEW WEEKS AGO 2511 01:32:35,400 --> 01:32:37,480 AND ONE OF THE PATIENTS 2512 01:32:37,480 --> 01:32:38,920 WHOSE CHILDREN HAVE RARE CONDITIONS 2513 01:32:38,920 --> 01:32:40,760 SAY WE SHOULD STOP SAYING THAT 2514 01:32:40,760 --> 01:32:41,960 FALSE HOPES. 2515 01:32:41,960 --> 01:32:43,920 MAYBE WE SHOULD CONTACT HIM 2516 01:32:43,920 --> 01:32:46,160 WRONG EXPECTATIONS AND CLINICS AN 2517 01:32:46,160 --> 01:32:46,920 HEALTH COMMUNICATORS MAY BE REQUIRED 2518 01:32:46,920 --> 01:32:49,480 TO DO A BETTER JOB, HELP 2519 01:32:49,480 --> 01:32:50,200 MANAGE EXPECTATIONS BUT EXPECTATIONS 2520 01:32:50,200 --> 01:32:52,480 SOMETIMES THEY'RE ALL THAT'S LEFT. 2521 01:32:52,480 --> 01:32:54,240 AND WE SHOULD NOT SAY THAT IT'S A 2522 01:32:54,240 --> 01:32:57,120 FALSE HOPES OR BAD THINGS THAT MUST HAPPEN A 2523 01:32:57,120 --> 01:32:58,960 PARENTS OR FAMILY MEMBERS. 2524 01:32:58,960 --> 01:33:00,080 MAINTAINING HOPE THAT One day will come 2525 01:33:00,080 --> 01:33:03,560 THERE MAY BE A CURE OR 2526 01:33:03,560 --> 01:33:04,200 MORE EFFECTIVE TREATMENT. 2527 01:33:04,200 --> 01:33:19,680 THANK YOU. 2528 01:33:19,680 --> 01:33:23,880 2529 01:33:23,880 --> 01:33:27,280 >> I'M NICOLE KRESSIN, CHIEF 2530 01:33:27,280 --> 01:33:29,680 INC. DIVERSITY COMMITTEE, I 2531 01:33:29,680 --> 01:33:32,520 CO-CHAIR RARE DISEASES 2532 01:33:32,520 --> 01:33:34,040 CLINICAL RESEARCH NETWORK 2533 01:33:34,040 --> 01:33:40,480 JOINT DIVERSITY COMMITTEE WITH DR. 2534 01:33:40,480 --> 01:33:47,960 TRACY KING AND THE P.I. CONSORTIUM. 2535 01:33:47,960 --> 01:33:49,280 AT THE MAYO CLINIC. 2536 01:33:49,280 --> 01:33:54,880 I WILL DISCUSS HOW 2537 01:33:54,880 --> 01:33:58,240 GRASSROOT D.E.I.A EFFORTS 2538 01:33:58,240 --> 01:34:00,640 DEVELOPING AND HOW WE CONTINUE 2539 01:34:00,640 --> 01:34:05,400 HELPING CHANGE IN THE LONG TERM. 2540 01:34:05,400 --> 01:34:08,120 INC. IS A CONSORTIUM WITH 20 2541 01:34:08,120 --> 01:34:09,640 RESEARCH SITES IN FOUR 2542 01:34:09,640 --> 01:34:13,360 COUNTRIES, MANY TYPES 2543 01:34:13,360 --> 01:34:15,480 NEUROPATHIES ARE INHERITED, MOST 2544 01:34:15,480 --> 01:34:17,880 COMMON CMT TYPE 1A IS UNKNOWN 2545 01:34:17,880 --> 01:34:19,080 RACE OR ETHNICITY 2546 01:34:19,080 --> 01:34:21,800 PREDISPOSITION TO HAVE 2547 01:34:21,800 --> 01:34:22,160 DISEASE. 2548 01:34:22,160 --> 01:34:23,760 RESEARCH AND CLINICAL POPULATIONS 2549 01:34:23,760 --> 01:34:26,160 SHOULD REFLECT DEMOGRAPHICS 2550 01:34:26,160 --> 01:34:27,880 LOCAL RESIDENTS IN 2551 01:34:27,880 --> 01:34:29,880 STUDY SITE BUT NOT. 2552 01:34:29,880 --> 01:34:31,280 THE COMMITTEE IS TEN MEMBERS, 2553 01:34:31,280 --> 01:34:33,240 EVERYONE WHO IS PART OF US 2554 01:34:33,240 --> 01:34:34,680 CONSORTIUM IS ENCOURAGED TO JOIN 2555 01:34:34,680 --> 01:34:36,000 IF THEY WANT. 2556 01:34:36,000 --> 01:34:37,200 WE REPRESENT SEVERAL ROLES 2557 01:34:37,200 --> 01:34:39,600 IN OUR CONSORTIUM AND IS 2558 01:34:39,600 --> 01:34:40,880 LOCATED IN THREE COUNTRIES, 2559 01:34:40,880 --> 01:34:43,000 SOME U.S. COUNTRIES 2560 01:34:43,000 --> 01:34:44,520 WE HAVE VARYING LEVELS 2561 01:34:44,520 --> 01:34:46,000 EXPERIENCE AND EDUCATION, NONE 2562 01:34:46,000 --> 01:34:47,760 HAVE SIGNIFICANT EXPERIENCE WITH 2563 01:34:47,760 --> 01:34:50,160 D.E.I.A WORK PARTS TO JOIN 2564 01:34:50,160 --> 01:34:51,920 COMMITTEE, BUT ALL OF US 2565 01:34:51,920 --> 01:34:57,920 VERY PASSIONATE AND DEEPLY ENGAGED 2566 01:34:57,920 --> 01:34:59,640 JOB. 2567 01:34:59,640 --> 01:35:02,080 THE PILLAR OF SUCCESS IS US 2568 01:35:02,080 --> 01:35:02,480 APPROACH. 2569 01:35:02,480 --> 01:35:03,640 OUR MEETINGS ARE PRODUCTIVE BUT 2570 01:35:03,640 --> 01:35:05,480 FEEL LIKE GATHERING 2571 01:35:05,480 --> 01:35:05,960 FRIENDS. 2572 01:35:05,960 --> 01:35:07,760 WE GET GREAT BENEFITS FROM IT 2573 01:35:07,760 --> 01:35:09,880 DIFFERENT REPRESENTATIONS 2574 01:35:09,880 --> 01:35:11,720 ROLE AND GEOGRAPHICAL LOCATION 2575 01:35:11,720 --> 01:35:13,560 MEMBERS PROVIDE AND WE ACKNOWLEDGE 2576 01:35:13,560 --> 01:35:14,560 DIVERSITY IS MULTI-FACETED AND 2577 01:35:14,560 --> 01:35:17,400 IT MAY NOT SEE US AS 2578 01:35:17,400 --> 01:35:17,680 RESEARCHER. 2579 01:35:17,680 --> 01:35:19,240 FOR THAT REASON WE FOCUS 2580 01:35:19,240 --> 01:35:21,240 IMPACT AND ACTIONS THAT WILL BE TAKEN 2581 01:35:21,240 --> 01:35:23,400 BETTER SUPPORT ALL PATIENTS. 2582 01:35:23,400 --> 01:35:26,880 OUR ACTIONS HAVE BEEN CENTERED 2583 01:35:26,880 --> 01:35:27,880 REORGANIZATION OF EXISTING RESOURCES. 2584 01:35:27,880 --> 01:35:29,400 THE COMMITTEE DOES NOT HAVE 2585 01:35:29,400 --> 01:35:30,840 DEDICATED OR PROTECTED FUNDING 2586 01:35:30,840 --> 01:35:32,560 TIME FOR MEMBERS. 2587 01:35:32,560 --> 01:35:35,200 WE FOUND, HOWEVER, SOME OF US 2588 01:35:35,200 --> 01:35:36,080 THE MOST IMPACT ACTION IS NO 2589 01:35:36,080 --> 01:35:37,680 IT TAKES A LOT OF TIME OR MONEY. 2590 01:35:37,680 --> 01:35:40,400 MOST OF OUR ACTIONS ARE CENTRALIZED 2591 01:35:40,400 --> 01:35:40,840 ABOUT COMMUNICATION 2592 01:35:40,840 --> 01:35:42,880 IT'S DIFFERENT, WHEN YOU SEE IT 2593 01:35:42,880 --> 01:35:44,680 SOME EXPLAINING POINTS 2594 01:35:44,680 --> 01:35:47,000 INITIATIVES THAT ARE ALL ELIMINATED 2595 01:35:47,000 --> 01:35:48,520 FOR COMMUNICATION. 2596 01:35:48,520 --> 01:35:50,480 SO, RAISE AWARENESS THROUGH 2597 01:35:50,480 --> 01:35:52,040 COMMUNICATION WITH PATIENTS 2598 01:35:52,040 --> 01:35:54,680 SOCIETY, GENERAL 2599 01:35:54,680 --> 01:35:55,880 NEUROLOGIST, PRIMARY CARE 2600 01:35:55,880 --> 01:35:56,640 PROVIDER, SOCIAL INCLUSIVE 2601 01:35:56,640 --> 01:35:58,240 PROVISION OF MEDIA CAMPAIGN 2602 01:35:58,240 --> 01:35:59,800 INFORMATION TO OUR RESEARCHERS 2603 01:35:59,800 --> 01:36:03,080 ON REPRESENTATION AND BIAS 2604 01:36:03,080 --> 01:36:05,200 AND PRESENTATIONS, POSTERS, 2605 01:36:05,200 --> 01:36:06,080 MANUSCRIPT, WE MADE IT 2606 01:36:06,080 --> 01:36:07,920 DIVERSITY, EQUALITY AND INCLUSION 2607 01:36:07,920 --> 01:36:08,960 LEADERSHIP INTERNSHIP POSITION 2608 01:36:08,960 --> 01:36:13,240 FOR JUNIOR LEARNING STAFF MEMBERS, 2609 01:36:13,240 --> 01:36:14,080 PROFESSIONAL ENTRY PLANNING 2610 01:36:14,080 --> 01:36:16,600 PROGRAM SO THEY GET IT 2611 01:36:16,600 --> 01:36:17,760 TYPES OF LEADERSHIP EXPERIENCE 2612 01:36:17,760 --> 01:36:18,680 VERY EARLY IN THEIR CAREERS 2613 01:36:18,680 --> 01:36:22,560 THAT THEY CAN BRING WITH THEM 2614 01:36:22,560 --> 01:36:22,880 WHOLE. 2615 01:36:22,880 --> 01:36:24,800 AND THEN IT DEVELOPED AND 2616 01:36:24,800 --> 01:36:26,560 OUR VIRTUAL VALIDATION 2617 01:36:26,560 --> 01:36:27,560 ASSESSMENT IN ENGLISH, 2618 01:36:27,560 --> 01:36:29,400 SPAIN, ITALY, BE A PATIENT 2619 01:36:29,400 --> 01:36:32,240 YOU CAN REGISTER VIRTUALLY WITH US 2620 01:36:32,240 --> 01:36:32,480 LEARN. 2621 01:36:32,480 --> 01:36:34,760 SO HOW CAN YOUR TEAM EARN 2622 01:36:34,760 --> 01:36:35,440 STARTED? 2623 01:36:35,440 --> 01:36:44,160 YES, THERE ARE MANY COMPLEXES 2624 01:36:44,160 --> 01:36:44,800 PROBLEM. 2625 01:36:44,800 --> 01:36:46,080 WE HAVE LEARNED TO SHIFT US 2626 01:36:46,080 --> 01:36:47,440 MINDSET IS THE MOST IMPORTANT 2627 01:36:47,440 --> 01:36:49,360 FIRST STEP TO START THE EXPERIENCE 2628 01:36:49,360 --> 01:36:50,480 THAT PROBLEM. 2629 01:36:50,480 --> 01:36:51,240 DISASSEMBLY THE EXISTING SYSTEM 2630 01:36:51,240 --> 01:36:55,040 WHICH WORKS FOR SOME BUT NOT ALL 2631 01:36:55,040 --> 01:36:57,560 IT MAY FEEL UNCOMFORTABLE AND IT WILL 2632 01:36:57,560 --> 01:36:59,000 IT LOOKS DIFFERENT, ESPECIALLY SINCE 2633 01:36:59,000 --> 01:37:00,880 MANY IN ACADEMIA HAVE BENEFITTED 2634 01:37:00,880 --> 01:37:03,480 FROM DEEPLY BUILT BIAS 2635 01:37:03,480 --> 01:37:04,320 EXISTING SYSTEMS. 2636 01:37:04,320 --> 01:37:06,720 WE HAVE TO LEARN TO SIT 2637 01:37:06,720 --> 01:37:07,600 COMFORT AND RECOGNIZING WORK 2638 01:37:07,600 --> 01:37:15,680 THROUGH THE LENS OF D.E.I.A. IS A PART 2639 01:37:15,680 --> 01:37:16,120 RESEARCH. 2640 01:37:16,120 --> 01:37:18,400 WE ALL HAVE THE TOOLS TO GET STARTED 2641 01:37:18,400 --> 01:37:21,120 TO CREATE CHANGE, A 2642 01:37:21,120 --> 01:37:22,680 TALENTED TEAM INVOLVED 2643 01:37:22,680 --> 01:37:24,640 VOLUNTEERS WHO CAN REBUILD 2644 01:37:24,640 --> 01:37:27,000 THE RESOURCES YOU HAVE. 2645 01:37:27,000 --> 01:37:28,760 ONE EXAMPLE IS CREATING SOCIAL 2646 01:37:28,760 --> 01:37:29,400 ACCOUNTABILITY. 2647 01:37:29,400 --> 01:37:30,920 IT'S FREE AND REQUIRES LITTLE 2648 01:37:30,920 --> 01:37:31,480 TIME. 2649 01:37:31,480 --> 01:37:34,720 CONDUCT A DISCUSSION OF D.E.I.A 2650 01:37:34,720 --> 01:37:36,000 EFFORT IS THE STANDARD IN MEETINGS, 2651 01:37:36,000 --> 01:37:37,840 PUBLICATIONS AND CONVERSATIONS ARE A 2652 01:37:37,840 --> 01:37:40,680 GOOD EXAMPLE OF HOW TO DO THIS. 2653 01:37:40,680 --> 01:37:43,680 THE INC. COMMITTEE STARTS TALKING 2654 01:37:43,680 --> 01:37:46,760 WITH OTHER GROUPS, I HAVE A LOGO, 2655 01:37:46,760 --> 01:37:47,880 CONCERNING EFFORT, SOME CLEAR 2656 01:37:47,880 --> 01:37:50,200 THE CHALLENGE IS UNIVERSAL 2657 01:37:50,200 --> 01:37:51,680 ACROSS ALL CONSORTIA AND STUDY SITES 2658 01:37:51,680 --> 01:37:53,800 IN THE U.S. AND 2659 01:37:53,800 --> 01:37:54,480 INTERNATIONALLY. 2660 01:37:54,480 --> 01:37:55,320 AND PEOPLE AROUND THE NETWORK 2661 01:37:55,320 --> 01:37:57,480 INTERESTED IN LEARNING FROM 2662 01:37:57,480 --> 01:37:58,320 MUTUAL EFFORT, 2663 01:37:58,320 --> 01:38:00,240 COLLABORATE TO OVERCOME SOME 2664 01:38:00,240 --> 01:38:02,760 THESE COMMON CHALLENGES. 2665 01:38:02,760 --> 01:38:05,160 SOME EXAMPLES INCLUDE FACTS 2666 01:38:05,160 --> 01:38:06,800 MANY RESEARCH STUDY SITES 2667 01:38:06,800 --> 01:38:09,040 DOESN'T HAVE THE RESOURCES TO 2668 01:38:09,040 --> 01:38:12,040 TRANSLATION DURING A VISIT OR FOR 2669 01:38:12,040 --> 01:38:13,760 DOCUMENT TRANSLATOR. 2670 01:38:13,760 --> 01:38:14,880 UNDERSTAND THAT 2671 01:38:14,880 --> 01:38:16,200 INTERSECTIONALITY IS RARE 2672 01:38:16,200 --> 01:38:18,920 DISEASES, AND ALSO DIVERSITY 2673 01:38:18,920 --> 01:38:20,560 AMONG THE SCIENTIFIC WORKFORCE IS 2674 01:38:20,560 --> 01:38:21,960 ALL THE UNIVERSAL PROBLEMS THAT CAN CREATE 2675 01:38:21,960 --> 01:38:26,520 HANDLED BY SEVERAL AMOUNT 2676 01:38:26,520 --> 01:38:27,560 DIFFERENT PLACES AND 2677 01:38:27,560 --> 01:38:28,960 ORGANIZATION. 2678 01:38:28,960 --> 01:38:33,600 BASED ON DISCUSSIONS WITH RDCRN 2679 01:38:33,600 --> 01:38:34,600 THE NEED FOR LEADERSHIP 2680 01:38:34,600 --> 01:38:36,520 CLEAR COLLABORATION, THAT 2681 01:38:36,520 --> 01:38:38,840 LEADED TO CREATE DIVERSITY 2682 01:38:38,840 --> 01:38:39,160 COMMITTEE. 2683 01:38:39,160 --> 01:38:43,240 NOW I WILL HAND IT TO YOU 2684 01:38:43,240 --> 01:38:43,760 TRASI. 2685 01:38:43,760 --> 01:38:45,360 >> THANK YOU, NIKOLE. 2686 01:38:45,360 --> 01:38:48,240 I AM TRACY KING, I AM A WARNING 2687 01:38:48,240 --> 01:38:54,840 OFFICER AT EUNICE KENNEDY 2688 01:38:54,840 --> 01:38:55,880 SHRIVER INSTITUTE, NICHD. 2689 01:38:55,880 --> 01:38:59,360 I'LL TALK ABOUT HOW WE IMPROVED IT 2690 01:38:59,360 --> 01:39:02,000 SOME PRINCIPLES OF IND 2691 01:39:02,000 --> 01:39:02,520 DIVERSITY COMMITTEE. 2692 01:39:02,520 --> 01:39:05,240 FIRST A LITTLE BACKGROUND 2693 01:39:05,240 --> 01:39:07,480 ABOUT CLINICAL RARE DISEASES 2694 01:39:07,480 --> 01:39:11,400 RESEARCH NETWORK, YOU MAY 2695 01:39:11,400 --> 01:39:13,360 FAMILIAR WITH RDCRN, WE MADE IT 2696 01:39:13,360 --> 01:39:15,680 UP TO 20 TEAMS, COLLABORATE WITH 2697 01:39:15,680 --> 01:39:16,640 ADVANCED AND CLINICAL RESEARCH 2698 01:39:16,640 --> 01:39:19,480 CARE FOR CERTAIN RARE GROUPS 2699 01:39:19,480 --> 01:39:19,840 DISEASE. 2700 01:39:19,840 --> 01:39:23,880 EVERY CONSORTIUM IS A PARTNERSHIP 2701 01:39:23,880 --> 01:39:25,280 BETWEEN RESEARCHERS, CLINICIANS, 2702 01:39:25,280 --> 01:39:27,360 PATIENTS, PATIENT ADVOCACY 2703 01:39:27,360 --> 01:39:29,440 GROUP, OK. 2704 01:39:29,440 --> 01:39:31,760 YOU HAVE HEARD FROM NICOLE 2705 01:39:31,760 --> 01:39:32,800 INHERITED NEURON CONSORTIUM, IS 2706 01:39:32,800 --> 01:39:37,320 ONE OF THE 20 TEAMS THAT MADE 2707 01:39:37,320 --> 01:39:40,560 UP THE NETWORK. 2708 01:39:40,560 --> 01:39:41,360 SINCE LAUNCHING RDCRN 2709 01:39:41,360 --> 01:39:43,960 OUR LAST YEAR'S DIVERSITY COMMITTEE 2710 01:39:43,960 --> 01:39:46,680 MODEL ASPECTS AFTER INC 2711 01:39:46,680 --> 01:39:49,880 EFFORT, TRY TO MANAGE 2712 01:39:49,880 --> 01:39:52,160 HOPE TO BE A WELCOME 2713 01:39:52,160 --> 01:39:53,680 AND A FRIENDLY PLACE TO SHARE, 2714 01:39:53,680 --> 01:39:54,880 I'M IMPRESSED HOW MANY GROUPS THEY HAVE 2715 01:39:54,880 --> 01:39:57,120 IT'S A LOT TO SHARE YOUR EXPERIENCE 2716 01:39:57,120 --> 01:39:58,800 AROUND D.E.I.A AND WITHIN 2717 01:39:58,800 --> 01:40:00,800 JUST A FEW CALLS HAVE BEEN AVAILABLE 2718 01:40:00,800 --> 01:40:02,960 OBVIOUSLY MANY RARE DISEASES 2719 01:40:02,960 --> 01:40:03,920 CONSORTIA WRESTLES WITH 2720 01:40:03,920 --> 01:40:06,320 SIMILAR PROBLEM. 2721 01:40:06,320 --> 01:40:07,800 FOR EXAMPLE, ONE COMMON THEME 2722 01:40:07,800 --> 01:40:09,680 WHAT APPEARS IS A NEED 2723 01:40:09,680 --> 01:40:11,080 BASIC DATA. 2724 01:40:11,080 --> 01:40:24,600 IT'S REALLY AN EITHER OR 2725 01:40:24,600 --> 01:40:28,520 Dr. LANGFORD POINT. 2726 01:40:28,520 --> 01:40:31,160 HOW DO THESE DISTRIBUTIONS COMPARE 2727 01:40:31,160 --> 01:40:33,120 FOR THEIR RARE AND ETHNICITY 2728 01:40:33,120 --> 01:40:34,480 WHO APPROVES, AS WELL 2729 01:40:34,480 --> 01:40:37,280 INDIVIDUAL DISTRIBUTION 2730 01:40:37,280 --> 01:40:38,480 MAINTAINED LONGITUDINALLY 2731 01:40:38,480 --> 01:40:39,880 RESEARCH STUDIES COMPARED TO 2732 01:40:39,880 --> 01:40:41,560 THOSE WHO DROP OUT. 2733 01:40:41,560 --> 01:40:43,640 MANY GROUPS ARE AWARE OF IT 2734 01:40:43,640 --> 01:40:45,200 NEEDS BETTER BASIC DATA ON 2735 01:40:45,200 --> 01:40:48,520 RACE AND ETHNICITY FUNDS 2736 01:40:48,520 --> 01:40:50,160 THEIR WORKFORCE, INCLUDING 2737 01:40:50,160 --> 01:40:51,600 INVESTIGATORS, STAFF, TRAINING. 2738 01:40:51,600 --> 01:40:53,320 AND THE PATIENT'S MAKEUP 2739 01:40:53,320 --> 01:40:55,480 ADVOCACY GROUPS ARE OFTEN THE FIRST 2740 01:40:55,480 --> 01:40:56,920 LINE PARTNERS IN RECRUITMENT 2741 01:40:56,920 --> 01:41:01,360 INDIVIDUALS WITH RARE DISEASES 2742 01:41:01,360 --> 01:41:02,960 TO PARTICIPATE IN RESEARCH. 2743 01:41:02,960 --> 01:41:04,680 WE WERE IMPRESSED BY HOW MUCH 2744 01:41:04,680 --> 01:41:05,880 THINGS PEOPLE ASK FOR 2745 01:41:05,880 --> 01:41:08,120 SHARED WITH US TO RECEIVE 2746 01:41:08,120 --> 01:41:09,720 LARGER RARE DISEASES COMMUNITIES. 2747 01:41:09,720 --> 01:41:12,360 WE HAVE CREATED A PART OF 2748 01:41:12,360 --> 01:41:14,520 MEETING CALLED NUGGETS, TO 2749 01:41:14,520 --> 01:41:16,400 SHARE ITEMS LIKE THIS MORE 2750 01:41:16,400 --> 01:41:16,640 BROADLY. 2751 01:41:16,640 --> 01:41:18,280 AND THEY OFTEN HAVE NOT DONE IT 2752 01:41:18,280 --> 01:41:19,800 RELATED RESEARCH. 2753 01:41:19,800 --> 01:41:21,520 EXAMPLE OF ONE OF THE LATEST NUGGETS 2754 01:41:21,520 --> 01:41:23,160 IT'S A BLOG POST, IN THE LINK 2755 01:41:23,160 --> 01:41:26,080 SHOW HERE, ITS IMPORTANCE 2756 01:41:26,080 --> 01:41:27,880 DIVERSITY IN MEDICAL 2757 01:41:27,880 --> 01:41:28,640 ILLUSTRATIONS ARE INCLUDED HEREIN 2758 01:41:28,640 --> 01:41:29,840 ILLUSTRATIONS THAT DEPICT THE LATE 2759 01:41:29,840 --> 01:41:31,600 PREGNANCY STAGES. 2760 01:41:31,600 --> 01:41:34,080 NOTHING AMAZING 2761 01:41:34,080 --> 01:41:42,240 THE ANATOMY SHOWN BUT THAT'S IT 2762 01:41:42,240 --> 01:41:43,400 GET ATTENTION, MOST OF THEM 2763 01:41:43,400 --> 01:41:44,680 I HAVE NEVER SEEN A DARK PICTURE 2764 01:41:44,680 --> 01:41:44,880 SKIN. 2765 01:41:44,880 --> 01:41:46,200 IN THINKING HOW TO GO FORWARD 2766 01:41:46,200 --> 01:41:49,840 OUR EFFORTS TO FIND THAT PERSON 2767 01:41:49,840 --> 01:41:50,600 INTERESTS NATURALLY COMBINE 2768 01:41:50,600 --> 01:41:53,000 ABOUT THREE TOPICS. 2769 01:41:53,000 --> 01:41:54,840 FIRST, A WEBINAR SERIES ABOUT 2770 01:41:54,840 --> 01:41:55,840 DIVERSITY ISSUES SPECIFIC TO 2771 01:41:55,840 --> 01:41:59,240 RARE DISEASES AND RARE DISEASES 2772 01:41:59,240 --> 01:41:59,480 RESEARCH. 2773 01:41:59,480 --> 01:42:00,760 SECOND, THE FOCUS GROUP ON 2774 01:42:00,760 --> 01:42:03,160 INCREASING DIVERSITY AMONG RARE 2775 01:42:03,160 --> 01:42:04,800 DISEASE RESEARCH PARTICIPANTS 2776 01:42:04,800 --> 01:42:05,560 AND ADVOCATE. 2777 01:42:05,560 --> 01:42:07,720 THIRD, INCREASING DIVERSITY 2778 01:42:07,720 --> 01:42:09,600 SCIENCE OF RARE DISEASES 2779 01:42:09,600 --> 01:42:10,000 LABOR. 2780 01:42:10,000 --> 01:42:12,120 CONFESSION 2781 01:42:12,120 --> 01:42:14,520 THE IMPORTANCE OF BOTH PARTICIPANTS 2782 01:42:14,520 --> 01:42:15,320 AND REFLECT WORK DIVERSITY 2783 01:42:15,320 --> 01:42:19,680 MANY OTHER STRUCTURES 2784 01:42:19,680 --> 01:42:23,800 D.E.I.A'S EFFORT ON TODAY'S PANEL 2785 01:42:23,800 --> 01:42:26,680 INCLUDING MY OTHER CO-SPEAKERS 2786 01:42:26,680 --> 01:42:29,840 IN PANEL, INC., I 2787 01:42:29,840 --> 01:42:34,640 NICHD INSTITUTE AND AS YOU HAVE HEARD 2788 01:42:34,640 --> 01:42:35,360 FROM VENCE BONHAM NIH-WIDE 2789 01:42:35,360 --> 01:42:38,800 EFFORTS AS PART OF UNITY 2790 01:42:38,800 --> 01:42:39,160 INITIATIVE. 2791 01:42:39,160 --> 01:42:42,080 SOME OBSERVATIONS ABOUT WHAT 2792 01:42:42,080 --> 01:42:42,920 IT'S RUNNING WELL SO FAR. 2793 01:42:42,920 --> 01:42:44,680 VERY VALUABLE TO OWN 2794 01:42:44,680 --> 01:42:45,520 COMMITTEE MEMBERS AND LEADERS 2795 01:42:45,520 --> 01:42:47,640 WITH VARIOUS BACKGROUNDS 2796 01:42:47,640 --> 01:42:48,880 AND PROFESSIONAL LEVEL 2797 01:42:48,880 --> 01:42:49,200 EXPERIENCE. 2798 01:42:49,200 --> 01:42:51,520 HAVE MORE PEOPLE ON THE FRONT LINE 2799 01:42:51,520 --> 01:42:53,480 PART LIKE NICOLE STOCK 2800 01:42:53,480 --> 01:42:54,200 EXPERIENCE AND PERMIT 2801 01:42:54,200 --> 01:42:57,240 EXPERIENCE TO HELP GROUPS 2802 01:42:57,240 --> 01:42:58,400 EFFORTS HAVE PROVIDED GRASS ROOTS 2803 01:42:58,400 --> 01:42:59,720 FEEL AND WE BELIEVE IN CONTRIBUTION 2804 01:42:59,720 --> 01:43:02,680 FOR HIGH LEVELS OF ENGAGEMENT 2805 01:43:02,680 --> 01:43:04,080 AMONG GROUP MEMBERS. 2806 01:43:04,080 --> 01:43:06,400 HAD A NUGGET SESSION 2807 01:43:06,400 --> 01:43:09,320 A USEFUL WAY TO SHARE 2808 01:43:09,320 --> 01:43:10,240 INFORMATION MAY NOT BE SUITABLE 2809 01:43:10,240 --> 01:43:11,960 INTO A SPECIAL STRUCTURE 2810 01:43:11,960 --> 01:43:13,160 RESEARCH CALL. 2811 01:43:13,160 --> 01:43:15,120 AS WE mentioned, we have done it 2812 01:43:15,120 --> 01:43:17,120 DISCOVER HOW QUICKLY COMMON THEMES 2813 01:43:17,120 --> 01:43:19,520 IT HAS APPEARED, SUCH AS A NEED 2814 01:43:19,520 --> 01:43:21,600 TO ACCOMMODATE PARTICIPANTS 2815 01:43:21,600 --> 01:43:23,880 WHICH IS NOT THE MAIN LANGUAGE 2816 01:43:23,880 --> 01:43:24,480 ENGLISH. 2817 01:43:24,480 --> 01:43:27,440 MANY SPECIAL THEMES 2818 01:43:27,440 --> 01:43:28,640 AND CAN BE ACTIONED. 2819 01:43:28,640 --> 01:43:29,880 WE WANT TO ACKNOWLEDGE THAT 2820 01:43:29,880 --> 01:43:34,520 THAT DOESN'T MEAN IT'S EASY. 2821 01:43:34,520 --> 01:43:42,080 AT THE SAME TIME OUR GROUP HAS BEEN 2822 01:43:42,080 --> 01:43:44,800 CHALLENGES FACED, WITH EQUATION 2823 01:43:44,800 --> 01:43:46,720 AND FLOW, WE HAVE FOUND THIS 2824 01:43:46,720 --> 01:43:48,360 ALWAYS VARY THE RHYTHM 2825 01:43:48,360 --> 01:43:49,480 ACCORDING TO EXPECTATIONS 2826 01:43:49,480 --> 01:43:51,520 PEOPLE WHO USUALLY CONSIST IN GROUPS 2827 01:43:51,520 --> 01:43:53,400 PEOPLE IN LEADERSHIP 2828 01:43:53,400 --> 01:43:55,240 POSITION AND WE FOUND 2829 01:43:55,240 --> 01:43:57,000 YOURSELF PUSHED BACK AGAINST 2830 01:43:57,000 --> 01:44:00,960 CRITICISM THAT LOST THE GROUP 2831 01:44:00,960 --> 01:44:01,760 MOMENTUM, SLOWING THINGS DOWN 2832 01:44:01,760 --> 01:44:03,240 IT HAS OPENED THE DOOR TO MORE 2833 01:44:03,240 --> 01:44:05,440 PARTICIPATION BY THOSE WHO ARE NOT IN 2834 01:44:05,440 --> 01:44:06,400 TRADITIONAL LEADERSHIP ROLE. 2835 01:44:06,400 --> 01:44:07,720 WE HAVE TRIED TO BE INTENTIONAL 2836 01:44:07,720 --> 01:44:09,160 AND WELCOME PEOPLE FROM A 2837 01:44:09,160 --> 01:44:10,240 POSITION RANGE AND 2838 01:44:10,240 --> 01:44:11,320 OUR BACKGROUND MUST 2839 01:44:11,320 --> 01:44:14,600 RECOGNIZING OUR STARTING POINT 2840 01:44:14,600 --> 01:44:17,960 IS RDCRN, BIAS AGAINST 2841 01:44:17,960 --> 01:44:18,480 RESOURCES AND INSTITUTIONS 2842 01:44:18,480 --> 01:44:19,880 ADVOCACY ORGANIZATION. 2843 01:44:19,880 --> 01:44:26,960 AND FINALLY WE WANT IT 2844 01:44:26,960 --> 01:44:28,160 ADMITTING OUR PURPOSE, WE DON'T 2845 01:44:28,160 --> 01:44:30,560 TRY TO PROGRESS IN EVERYTHING 2846 01:44:30,560 --> 01:44:31,680 SO FRONT. 2847 01:44:31,680 --> 01:44:34,280 AS MOST OF YOU HAVE HEARD DISCUSSIONS 2848 01:44:34,280 --> 01:44:36,680 HAVE FOCUSED ON D FOR 2849 01:44:36,680 --> 01:44:40,600 D.E.I.A DIVERSITY, WE HOPE 2850 01:44:40,600 --> 01:44:46,480 MORE DIRECTLY ADDRESS SOME OTHERS 2851 01:44:46,480 --> 01:44:49,200 ASPECTS IN THE FUTURE. 2852 01:44:49,200 --> 01:44:52,160 I WANT TO CALL ACCESSIBILITY 2853 01:44:52,160 --> 01:44:53,640 FOR DIAGNOSIS, TREATMENT, ABILITY 2854 01:44:53,640 --> 01:44:55,080 TO PARTICIPATE IN RESEARCH. 2855 01:44:55,080 --> 01:44:57,960 WE KNOW THE PROBLEM IS AROUND 2856 01:44:57,960 --> 01:44:59,240 RELEVANT ACCESSIBILITY FOR 2857 01:44:59,240 --> 01:45:00,800 MANY RARE DISEASES 2858 01:45:00,800 --> 01:45:02,800 A DEEPLY INVOLVED COMMUNITY 2859 01:45:02,800 --> 01:45:06,720 RDCRN, BUT AS NICOLE AND OTHERS 2860 01:45:06,720 --> 01:45:08,680 HAVE BEEN NOTICED BEFORE, THIS 2861 01:45:08,680 --> 01:45:09,880 DISABILITIES AND OTHERS 2862 01:45:09,880 --> 01:45:11,680 OBSTACLES ARE OFTEN INVISIBLE. 2863 01:45:11,680 --> 01:45:13,920 AND THEREFORE IT CAN CALL 2864 01:45:13,920 --> 01:45:15,240 DIFFERENT STRATEGIES FROM 2865 01:45:15,240 --> 01:45:19,200 THAT FOCUSES ON EFFORTS 2866 01:45:19,200 --> 01:45:21,040 TO INCREASE DIVERSITY. 2867 01:45:21,040 --> 01:45:22,600 THE MAIN CHALLENGE WE HAVE 2868 01:45:22,600 --> 01:45:24,960 HOW TO KEEP THE COMMITTEE' 2869 01:45:24,960 --> 01:45:26,400 EFFORTS THAT FOCUS ON MEANING 2870 01:45:26,400 --> 01:45:29,240 TEMPORARY AND OVERALL CHANGES A 2871 01:45:29,240 --> 01:45:31,120 COMMUNITIES IN LARGE NUMBERS 2872 01:45:31,120 --> 01:45:32,280 MEMBERS AND DISEASE COMMUNITIES. 2873 01:45:32,280 --> 01:45:34,600 AND NOW I WANT TO PUT IT BACK 2874 01:45:34,600 --> 01:45:36,320 FOR NICOLE TO FINISH. 2875 01:45:36,320 --> 01:45:37,320 >> THANK YOU, TRACY. 2876 01:45:37,320 --> 01:45:39,720 WE WANT TO SHOW YOU DO AND 2877 01:45:39,720 --> 01:45:41,240 PLEASE DO HELP HELP US THROUGH 2878 01:45:41,240 --> 01:45:44,080 THE GROWTH OF THE TWO OF US 2879 01:45:44,080 --> 01:45:44,640 COMMITTEE. 2880 01:45:44,640 --> 01:45:46,960 THIS ARTICLE IS FROM HARVARD 2881 01:45:46,960 --> 01:45:48,080 BUSINESS REVIEWS HAVE RESEARCH 2882 01:45:48,080 --> 01:45:49,240 BASED ON THE TABLE THAT EXPLAINS THINGS 2883 01:45:49,240 --> 01:45:51,120 WHAT WORKS AND WHAT DOESN'T WORK. 2884 01:45:51,120 --> 01:45:52,760 IN GENERAL REGULATIONS AND MANDATES 2885 01:45:52,760 --> 01:45:54,400 ABOUT DIVERSITY SHOULD BE 2886 01:45:54,400 --> 01:45:57,000 USE WITH CARE, AND SOMETIMES 2887 01:45:57,000 --> 01:45:59,000 THEY ARE COMPLETELY BAD. 2888 01:45:59,000 --> 01:46:00,640 KEEPING THINGS VOLUNTARY, 2889 01:46:00,640 --> 01:46:02,360 FLEXIBLE, PROVIDES SUPPORT AND 2890 01:46:02,360 --> 01:46:03,360 TRAINING WITH SOCIAL 2891 01:46:03,360 --> 01:46:04,880 ACCOUNTABILITY IS THE VALUE 2892 01:46:04,880 --> 01:46:06,480 WHO HAVE INFORMED THEM 2893 01:46:06,480 --> 01:46:08,080 APPROACHES IN OUR COMMITTEES. 2894 01:46:08,080 --> 01:46:11,000 WE WANT THE CIRCLE TO GO BACK TO SOME WAY 2895 01:46:11,000 --> 01:46:16,360 KEY POINTS FROM MORE 2896 01:46:16,360 --> 01:46:16,920 PRESENTATION, UNDERSTANDING 2897 01:46:16,920 --> 01:46:18,560 TRULY INTERSECTIONALITY 2898 01:46:18,560 --> 01:46:20,080 IT'S IMPORTANT TO RECOGNIZE IT'S UNIQUE 2899 01:46:20,080 --> 01:46:21,480 CHALLENGES ARE INDIVIDUAL AND 2900 01:46:21,480 --> 01:46:23,480 THE FAMILY WAS AFFECTED BY THE RARE 2901 01:46:23,480 --> 01:46:25,760 DISEASES AND WHATSOEVER 2902 01:46:25,760 --> 01:46:28,280 MARGINAL PART OF SOCIETY 2903 01:46:28,280 --> 01:46:29,600 MAY BE FACING. 2904 01:46:29,600 --> 01:46:31,800 OVERCOMING CHALLENGES CORRECTLY 2905 01:46:31,800 --> 01:46:32,560 IT REQUIRES INTENTIONALITY 2906 01:46:32,560 --> 01:46:34,280 APPROACHES, INCLUDING PEOPLE WITH 2907 01:46:34,280 --> 01:46:36,480 RARE DISEASES IN ALL STAGES 2908 01:46:36,480 --> 01:46:38,480 PLANNING, ENSURE EVERYTHING MEETS THE REQUIREMENTS 2909 01:46:38,480 --> 01:46:41,640 PATIENTS ARE INVITED TO JOIN 2910 01:46:41,640 --> 01:46:43,040 RESEARCH STUDIES WHEN AVAILABLE 2911 01:46:43,040 --> 01:46:44,640 THERE ARE TWO EXAMPLES. 2912 01:46:44,640 --> 01:46:47,120 BUILDING DIVERSITY WITHIN 2913 01:46:47,120 --> 01:46:48,480 WORKFORCE IS VERY IMPORTANT. 2914 01:46:48,480 --> 01:46:49,880 SCIENTISTS AND CLINICIANS ARE 2915 01:46:49,880 --> 01:46:51,280 ABLE TO BRING UNIQUE 2916 01:46:51,280 --> 01:46:53,480 PERSPECTIVE AND TAKE IT AWAY 2917 01:46:53,480 --> 01:46:55,840 LIVING EXPERIENCE FOR CULTURE 2918 01:46:55,840 --> 01:46:57,000 SOLUTION FOR LONG LASTING 2919 01:46:57,000 --> 01:46:57,600 Obstacles. 2920 01:46:57,600 --> 01:47:00,040 SO, LAST THINGS BEFORE WE LEAVE 2921 01:47:00,040 --> 01:47:01,240 HAVE A CHALLENGE FOR EVERYONE. 2922 01:47:01,240 --> 01:47:04,400 WHAT YOU CAN DO NOW 2923 01:47:04,400 --> 01:47:06,200 MAKE YOUR JOB MORE DIVERSE, 2924 01:47:06,200 --> 01:47:08,080 INCLUSIVE, FAIR, AND/OR 2925 01:47:08,080 --> 01:47:08,400 ACCESSIBLE? 2926 01:47:08,400 --> 01:47:12,200 WE'D LOVE TO HEAR FROM YOU 2927 01:47:12,200 --> 01:47:16,160 ANY EXPERIENCE, ANY THOUGHT, 2928 01:47:16,160 --> 01:47:18,080 CONCERNS, FEEDBACK ABOUT US 2929 01:47:18,080 --> 01:47:19,040 APPROACH, NUGGET, 2930 01:47:19,040 --> 01:47:19,960 ADVICE, ANYTHING ABOUT YOU 2931 01:47:19,960 --> 01:47:20,960 OWN EXPERIENCE WITH GAINING 2932 01:47:20,960 --> 01:47:23,040 YOUR D.E.I.A EFFORT BEGINS OR 2933 01:47:23,040 --> 01:47:24,320 KEEP THEM WALKING. 2934 01:47:24,320 --> 01:47:25,760 WE HAVE OUR E-MAIL ADDRESS 2935 01:47:25,760 --> 01:47:27,680 IT'S BELOW THE SLIDE 2936 01:47:27,680 --> 01:47:28,800 AND WE ARE VERY HAPPY 2937 01:47:28,800 --> 01:47:35,480 HEAR FROM YOU. 2938 01:47:35,480 --> 01:47:43,600 THANK YOU FOR LISTENING. 2939 01:47:43,600 --> 01:47:48,800 2940 01:47:48,800 --> 01:47:53,480 >> I WANT TO THANK YOU 2941 01:47:53,480 --> 01:47:54,000 PANELIST. 2942 01:47:54,000 --> 01:47:56,240 WE HAVE ABOUT TEN MINUTES FOR A 2943 01:47:56,240 --> 01:47:57,600 CONVERSATION AND Q&A. 2944 01:47:57,600 --> 01:47:59,280 I'LL START WITH YOU, 2945 01:47:59,280 --> 01:48:01,040 MICHELE, WITH A QUESTION. 2946 01:48:01,040 --> 01:48:04,280 CAN YOU TELL ME ABOUT WHAT THAT IS 2947 01:48:04,280 --> 01:48:05,960 FIELD OF GENETIC COUNSELING, APA 2948 01:48:05,960 --> 01:48:07,040 THEY ARE DOING TO IMPROVE 2949 01:48:07,040 --> 01:48:10,960 DIVERSITY IN GENETICS 2950 01:48:10,960 --> 01:48:11,440 COUNSELING WORKFORCE? 2951 01:48:11,440 --> 01:48:17,640 >> SO, ON THE EDUCATIONAL SIDE, 2952 01:48:17,640 --> 01:48:23,120 THE PROGRAM TRYES TO HAVE MORE 2953 01:48:23,120 --> 01:48:27,240 HOLISTIC APPLICATION PROCESS, 2954 01:48:27,240 --> 01:48:29,320 THAT WILL EXPECTEDLY ALLOW 2955 01:48:29,320 --> 01:48:30,880 MORE DIVERSE CANDIDATES 2956 01:48:30,880 --> 01:48:32,920 BACKGROUND FOR DOING IT 2957 01:48:32,920 --> 01:48:35,600 TO BE TRULY ACCEPTED 2958 01:48:35,600 --> 01:48:37,640 ACCORDING TO THE PROGRAM. 2959 01:48:37,640 --> 01:48:38,640 GENETIC MINORITIES 2960 01:48:38,640 --> 01:48:40,360 PROFESSIONAL NETWORK FOR US 2961 01:48:40,360 --> 01:48:42,640 PART WE HAVE THAT CAREER EXHIBITION 2962 01:48:42,640 --> 01:48:44,080 WE HAVE BEEN DOING IT FOR THE LAST TWO 2963 01:48:44,080 --> 01:48:44,680 YEAR. 2964 01:48:44,680 --> 01:48:48,680 OPEN TO ALL CANDIDATES 2965 01:48:48,680 --> 01:48:54,240 STUDENTS BUT WE MAKE OUR TARGET 2966 01:48:54,240 --> 01:48:55,560 MARKETING TO ORGANIZATIONS 2967 01:48:55,560 --> 01:48:58,720 THAT SERVES STUDENTS OF COLOR, 2968 01:48:58,720 --> 01:49:03,200 AND THAT'S THE WAY TO EXPAND 2969 01:49:03,200 --> 01:49:04,960 DIVERSE POOL OF APPLICANTS. 2970 01:49:04,960 --> 01:49:08,040 AND THEN ONCE THE STUDENTS ARE THERE 2971 01:49:08,040 --> 01:49:12,600 IN THE MGPN PROGRAM HAVE A 2972 01:49:12,600 --> 01:49:13,880 HELPFUL SERVICE PROGRAM 2973 01:49:13,880 --> 01:49:15,480 STUDENTS TO HAVE MORE SUPPORT 2974 01:49:15,480 --> 01:49:17,480 THROUGH THE GOING PROCESS 2975 01:49:17,480 --> 01:49:19,080 THROUGH GRADUATE SCHOOL BECAUSE 2976 01:49:19,080 --> 01:49:21,040 VERY OFTEN THEY MAY BE THE ONLY ONE 2977 01:49:21,040 --> 01:49:31,880 STUDENTS OF COLOR OLOR IN THEM 2978 01:49:31,880 --> 01:49:32,120 PROGRAM. 2979 01:49:32,120 --> 01:49:35,400 HELPING MENTORING PROGRAM 2980 01:49:35,400 --> 01:49:36,240 WITH PROSPECTIVE STUDENTS, 2981 01:49:36,240 --> 01:49:37,360 HELP WITH INTERVIEW PREPARATION, 2982 01:49:37,360 --> 01:49:38,680 THINGS LIKE THAT. 2983 01:49:38,680 --> 01:49:39,160 >> THANK YOU. 2984 01:49:39,160 --> 01:49:42,400 >> TO DO THEM THROUGH 2985 01:49:42,400 --> 01:49:43,160 PROCESS. 2986 01:49:43,160 --> 01:49:43,680 >> GREAT. 2987 01:49:43,680 --> 01:49:45,200 THANK YOU FOR YOUR COMMENTS. 2988 01:49:45,200 --> 01:49:47,480 AND I WANT TO GO BACK TO 2989 01:49:47,480 --> 01:49:50,080 SOME THINGS YOU DO 2990 01:49:50,080 --> 01:49:51,760 TALK ABOUT, AND YOU TALK ABOUT 2991 01:49:51,760 --> 01:49:53,920 ABOUT THE NEED TO THINK ABOUT AN 2992 01:49:53,920 --> 01:49:55,360 INDIVIDUAL IDENTITY. 2993 01:49:55,360 --> 01:49:57,800 CAN YOU EXPLORE JUST FOR A 2994 01:49:57,800 --> 01:50:00,840 MORE MOMENTS FOR HEALTH CARE 2995 01:50:00,840 --> 01:50:04,160 MANUFACTURING HAZARD PROVIDER 2996 01:50:04,160 --> 01:50:06,480 ASSUME IDENTITY ABOUT THEM 2997 01:50:06,480 --> 01:50:08,520 PATIENTS WITH RARE DISEASES. 2998 01:50:08,520 --> 01:50:09,400 >> YES. 2999 01:50:09,400 --> 01:50:10,160 VERY. 3000 01:50:10,160 --> 01:50:11,360 THAT'S AN AMAZING QUESTION. 3001 01:50:11,360 --> 01:50:15,160 SO, AS A CASE EXAMPLE, I WILL 3002 01:50:15,160 --> 01:50:19,480 Refer people to existing stories 3003 01:50:19,480 --> 01:50:22,240 NOW DOCUMENTED IN A FILM, 54 YEARS OLD 3004 01:50:22,240 --> 01:50:25,160 THEN, MY FRIEND'S JOURNEY 3005 01:50:25,160 --> 01:50:28,760 TERRY WRIGHT, IS IN YOUR LATE 50'S 3006 01:50:28,760 --> 01:50:29,600 LIVING WITH CYSTIC FIBROSIS, 3007 01:50:29,600 --> 01:50:32,520 TERRY IS AN AFRICAN AMERICAN. 3008 01:50:32,520 --> 01:50:34,720 AND LIKE MANY, AFRICAN AMERICANS 3009 01:50:34,720 --> 01:50:37,080 AND GENERALLY BLACK PEOPLE 3010 01:50:37,080 --> 01:50:39,280 LIVING WITH CF, DOCTOR QUIT 3011 01:50:39,280 --> 01:50:41,880 THE IDEA THAT TERRY COULD 3012 01:50:41,880 --> 01:50:43,400 POTENTIAL TO HAVE C F, EVEN 3013 01:50:43,400 --> 01:50:45,040 Though, like me, he is fair 3014 01:50:45,040 --> 01:50:47,200 TEXTBOOKS FROM HER TIME 3015 01:50:47,200 --> 01:50:47,960 A LITTLE. 3016 01:50:47,960 --> 01:50:49,920 I GOT MY FIRST TEST FOR CF AT 3017 01:50:49,920 --> 01:50:50,680 AGE 4. 3018 01:50:50,680 --> 01:50:51,560 THEY CAN'T GET ENOUGH SWEAT 3019 01:50:51,560 --> 01:50:53,760 FROM ME TO GET A VALID SAMPLE 3020 01:50:53,760 --> 01:50:56,480 BUT AT LEAST BECAUSE I DO 3021 01:50:56,480 --> 01:50:59,280 MIND PEOPLE WITH LIGHT SKIN 3022 01:50:59,280 --> 01:51:03,040 THAT, HEY, WHATEVER 3023 01:51:03,040 --> 01:51:04,120 CULTURAL OR ETHNIC BACKGROUND OF CF 3024 01:51:04,120 --> 01:51:04,880 IT IS A POSSIBILITY. 3025 01:51:04,880 --> 01:51:08,080 THERE'S A LOT OF PEOPLE 3026 01:51:08,080 --> 01:51:08,560 COLORS, ESPECIALLY BLACK 3027 01:51:08,560 --> 01:51:11,000 AMERICA, WHO HAS LEFT FROM CF 3028 01:51:11,000 --> 01:51:14,840 AND OTHER RARE DISEASES BECAUSE 3029 01:51:14,840 --> 01:51:18,000 LESS SENSORY THAN 3030 01:51:18,000 --> 01:51:19,760 POTENTIAL TREATMENT POOL 3031 01:51:19,760 --> 01:51:21,640 THEREFORE IT IS CONSIDERED 3032 01:51:21,640 --> 01:51:23,160 There's NO WAY THEY COULD HAVE A 3033 01:51:23,160 --> 01:51:23,840 THEIR DISEASE IS OBVIOUS 3034 01:51:23,840 --> 01:51:25,560 EXPERIENCE. 3035 01:51:25,560 --> 01:51:29,160 IF YOU HAVEN'T SEEN "54 YEARS 3036 01:51:29,160 --> 01:51:31,560 THEN" I ASKED YOU AND 3037 01:51:31,560 --> 01:51:35,240 RESOURCES BY NATIONAL 3038 01:51:35,240 --> 01:51:41,280 TERRY AND DR. 3039 01:51:41,280 --> 01:51:46,160 WRIGHT HELPED STARTING, NOT CAUTION 3040 01:51:46,160 --> 01:51:46,920 TO MAKE ASSUMPTIONS. 3041 01:51:46,920 --> 01:51:48,680 IF YOU SEE THE EVIDENCE THERE IS 3042 01:51:48,680 --> 01:51:51,400 SUFFERING LEAN INTO THAT, INTO 3043 01:51:51,400 --> 01:51:52,840 LIVING EXPERIENCE 3044 01:51:52,840 --> 01:51:55,080 NO ONE CAN TELL YOU BETTER 3045 01:51:55,080 --> 01:51:58,400 THAN THE PEOPLE OWN. 3046 01:51:58,400 --> 01:51:58,960 >> THANK YOU. 3047 01:51:58,960 --> 01:52:02,480 AISHA, BASED ON ALL OF YOU 3048 01:52:02,480 --> 01:52:04,880 RESEARCH AROUND ENGAGEMENT AND 3049 01:52:04,880 --> 01:52:05,840 INDIVIDUAL PARTICIPATION IN 3050 01:52:05,840 --> 01:52:07,880 CLINICAL TRIALS, CAN YOU TELL ME 3051 01:52:07,880 --> 01:52:11,160 WHAT ARE SOME MYTHS ABOUT 3052 01:52:11,160 --> 01:52:12,880 UNDER-REPRESENTED POPULATIONS 3053 01:52:12,880 --> 01:52:14,040 PARTICIPATE IN THE CLINIC 3054 01:52:14,040 --> 01:52:14,360 TRIAL? 3055 01:52:14,360 --> 01:52:16,440 >> I WOULD SAY THE FIRST MYTH IS 3056 01:52:16,440 --> 01:52:18,280 RACE AND ETHNICITY 3057 01:52:18,280 --> 01:52:19,680 MINORITIES ARE NOT INTERESTED AND 3058 01:52:19,680 --> 01:52:22,480 THEY ALL DIDN'T BELIEVE. 3059 01:52:22,480 --> 01:52:23,760 I HEARD THAT NARRATIVE 3060 01:52:23,760 --> 01:52:25,720 MUCH INTRODUCED, DEEP IN FACT 3061 01:52:25,720 --> 01:52:26,520 LITERATURE, ALSO LISTEN 3062 01:52:26,520 --> 01:52:28,480 MEDICAL STUDENTS SAY THAT. 3063 01:52:28,480 --> 01:52:30,760 I THINK THOUGH IT WAS WELL MEANT 3064 01:52:30,760 --> 01:52:33,480 IT'S PARTLY BECAUSE WE'RE TALKING 3065 01:52:33,480 --> 01:52:35,800 ON PAST MISUSE IN RESEARCH 3066 01:52:35,800 --> 01:52:37,840 LIKE TUSKEGEE FOR EXAMPLE, AND 3067 01:52:37,840 --> 01:52:38,920 HENRIETTA LACK OF MANY CASES 3068 01:52:38,920 --> 01:52:40,160 PEOPLE ALREADY KNOW. 3069 01:52:40,160 --> 01:52:43,000 IT'S VERY IMPORTANT 3070 01:52:43,000 --> 01:52:47,160 CASES, AND TIME POINTS, BUT I 3071 01:52:47,160 --> 01:52:49,440 THINK PEOPLE IN 2022 STILL CARE 3072 01:52:49,440 --> 01:52:52,600 ABOUT HEALTH. 3073 01:52:52,600 --> 01:52:55,200 THEY UNDERSTAND THAT THE IRB AND 3074 01:52:55,200 --> 01:52:57,280 ETHICS AND HOW OUR APPROACH 3075 01:52:57,280 --> 01:52:58,680 CLINICAL RESEARCH IS DIFFERENT 3076 01:52:58,680 --> 01:53:00,560 FROM HUNDREDS OF YEARS AGO, 3077 01:53:00,560 --> 01:53:02,560 FIFTY YEARS AGO, NO 3078 01:53:02,560 --> 01:53:04,080 PERFECT BUT THERE IS MORE 3079 01:53:04,080 --> 01:53:04,920 PROTECTION. 3080 01:53:04,920 --> 01:53:07,360 SO I ALWAYS ERROR ON THE SIDE 3081 01:53:07,360 --> 01:53:08,120 DON'T MAKE SOMEONE'S DECISIONS 3082 01:53:08,120 --> 01:53:09,320 AWAY FROM THEM. 3083 01:53:09,320 --> 01:53:13,680 OUR JOB IS HEALTH CARE 3084 01:53:13,680 --> 01:53:15,240 PROFESSIONALS NAMED HERE 3085 01:53:15,240 --> 01:53:17,280 YOUR CHOICE WE WANT TO MAKE 3086 01:53:17,280 --> 01:53:19,160 MAKE SURE THE PATIENT IS CONSCIOUS AND 3087 01:53:19,160 --> 01:53:19,840 ARE INVITED TO PARTICIPATE IF THEY ARE 3088 01:53:19,840 --> 01:53:20,600 WANT. 3089 01:53:20,600 --> 01:53:22,560 IT SHOULD BE DEFAULT AND 3090 01:53:22,560 --> 01:53:23,680 THE STARTING POINT EVERYONE CARES 3091 01:53:23,680 --> 01:53:25,880 ABOUT THEIR HEALTH AND THAT 3092 01:53:25,880 --> 01:53:27,080 EVERYONE HAS POTENTIAL 3093 01:53:27,080 --> 01:53:29,280 INTERESTED IF GIVEN 3094 01:53:29,280 --> 01:53:30,200 OPPORTUNITY AND TRUE 3095 01:53:30,200 --> 01:53:35,680 INFORMATION TO MAKE YOUR OWN 3096 01:53:35,680 --> 01:53:35,960 DECISION. 3097 01:53:35,960 --> 01:53:39,200 >> FINAL QUESTION TO NICOLE DAN 3098 01:53:39,200 --> 01:53:40,000 JOINT TRACTION. 3099 01:53:40,000 --> 01:53:41,800 YOU CAN SHARE YOUR PERSPECTIVE 3100 01:53:41,800 --> 01:53:43,480 IN THIS QUESTION. 3101 01:53:43,480 --> 01:53:45,680 WHAT DISEASES CAN CAUSE 3102 01:53:45,680 --> 01:53:47,600 RESEARCHERS AND PATIENT GROUPS 3103 01:53:47,600 --> 01:53:49,600 AND ADVOCACY GROUPS DO BETTER 3104 01:53:49,600 --> 01:53:51,800 SERVE AND INCLUDE AND ENGAGE 3105 01:53:51,800 --> 01:53:55,080 PATIENTS WITH RARE DISEASES FROM 3106 01:53:55,080 --> 01:53:55,960 MARGINALIST BACKGROUND? 3107 01:53:55,960 --> 01:53:56,800 >> THERE'S A LOT OF THINGS 3108 01:53:56,800 --> 01:54:03,640 IT CAN BE DONE. 3109 01:54:03,640 --> 01:54:05,800 I THINK THAT'S MOST OF IT 3110 01:54:05,800 --> 01:54:07,720 WHAT WE ARE DOING CURRENTLY NOT 3111 01:54:07,720 --> 01:54:17,200 HAVE TO TAKE TIME OR 3112 01:54:17,200 --> 01:54:17,680 EXPENSIVE. 3113 01:54:17,680 --> 01:54:18,280 APPROACH THE PATIENT DIRECTLY, 3114 01:54:18,280 --> 01:54:23,080 PROVIDING KNOW MEME -- PEOPLE KNOW 3115 01:54:23,080 --> 01:54:24,880 THIS IS AN OPTION, IN THE FUTURE, 3116 01:54:24,880 --> 01:54:30,000 MAYBE IN A FEW YEARS WE WILL 3117 01:54:30,000 --> 01:54:31,280 GOOD LUCK, LET THEM KNOW 3118 01:54:31,280 --> 01:54:32,480 THAT'S A POSSIBILITY. 3119 01:54:32,480 --> 01:54:33,920 THINGS WE HAVE DISCUSSED AND 3120 01:54:33,920 --> 01:54:37,880 HAVE STARTED WORKING MORE 3121 01:54:37,880 --> 01:54:39,280 TOWARDS TARGETED MARKETING 3122 01:54:39,280 --> 01:54:46,120 DIFFERENT COMMUNITIES, SPEAK 3123 01:54:46,120 --> 01:54:47,480 TOGETHER WITH COMMUNITY LEADERS, 3124 01:54:47,480 --> 01:54:47,920 MARKETING IN DIFFERENT 3125 01:54:47,920 --> 01:54:54,040 LANGUAGE, THERE'S A LOT THAT CAN BE DONE 3126 01:54:54,040 --> 01:54:57,280 UNFREQUENTLY ENGAGED 3127 01:54:57,280 --> 01:54:58,640 SADLY IT DID. 3128 01:54:58,640 --> 01:55:03,320 >> TRACY FOR CLOSING COMMENTS. 3129 01:55:03,320 --> 01:55:05,280 >> I WOULD ECHO NICOLE'S POINT, 3130 01:55:05,280 --> 01:55:08,960 NEED TO MAKE A BETTER OFFER 3131 01:55:08,960 --> 01:55:09,880 HUMAN OPPORTUNITIES. 3132 01:55:09,880 --> 01:55:13,840 I THINK WHAT I HAVE COME TO 3133 01:55:13,840 --> 01:55:17,080 APPRECIATE WORKING WITH RDCRN IS 3134 01:55:17,080 --> 01:55:19,320 WHAT POSITION IS IT 3135 01:55:19,320 --> 01:55:20,880 OUR PRIVILEGES START FROM. 3136 01:55:20,880 --> 01:55:24,840 YOU KNOW, GRANT RECIPIENTS TEND TO 3137 01:55:24,840 --> 01:55:25,280 VERY VERY RESOURCEABLE 3138 01:55:25,280 --> 01:55:26,920 ORGANIZATIONS, AND THEIR TENDS 3139 01:55:26,920 --> 01:55:31,880 GET USED TO SEEING PEOPLE WHO ARE 3140 01:55:31,880 --> 01:55:35,880 HAVE RESOURCES TO ACCESS 3141 01:55:35,880 --> 01:55:37,040 THE SERVICES THEY OFFER. 3142 01:55:37,040 --> 01:55:38,680 THE SAME APPLIES TO ADVOCACY 3143 01:55:38,680 --> 01:55:41,680 ORGANIZATIONS WE WORK WITH. 3144 01:55:41,680 --> 01:55:43,360 YOU KNOW, SOMETHING IS AWESOME 3145 01:55:43,360 --> 01:55:45,680 PASSION AND DEDICATION BETWEEN 3146 01:55:45,680 --> 01:55:47,640 ADVOCACY GROUPS, BUT MANY OF THE ADVOCACY GROUPS 3147 01:55:47,640 --> 01:55:50,480 THE GROUPS TEND TO BE THE MOST ACTIVE 3148 01:55:50,480 --> 01:55:53,880 VERY BASED AND TENDENED 3149 01:55:53,880 --> 01:55:55,160 INVOLVE PEOPLE WHO ARE ALREADY EXISTING 3150 01:55:55,160 --> 01:55:57,560 IN THEIR OWN SOCIAL CIRCLE, AND 3151 01:55:57,560 --> 01:56:01,680 I THINK THEY REALLY WANT TO DO IT 3152 01:56:01,680 --> 01:56:04,040 BETTER BUT WE REALLY WANT IT 3153 01:56:04,040 --> 01:56:06,520 TO DO THIS LEARNING 3154 01:56:06,520 --> 01:56:08,520 EXPERIENCE TOGETHER HOW TO DO IT 3155 01:56:08,520 --> 01:56:12,040 IT'S BETTER, THE WAY TO EXTEND 3156 01:56:12,040 --> 01:56:13,880 BEYOND YOUR PARTICULAR, YOU KNOW, 3157 01:56:13,880 --> 01:56:14,480 I RECRUIT THROUGH SOCIAL 3158 01:56:14,480 --> 01:56:17,280 MEDIA, TO LIKE PEOPLE 3159 01:56:17,280 --> 01:56:17,640 I AM. 3160 01:56:17,640 --> 01:56:20,520 AND WHAT IS IT RELATED TO 3161 01:56:20,520 --> 01:56:22,080 SKIN COLOR, EDUCATION, INCOME, 3162 01:56:22,080 --> 01:56:24,480 GEOGRAPHY, WHATEVER IT HAPPENED TO BE 3163 01:56:24,480 --> 01:56:25,440 BE. 3164 01:56:25,440 --> 01:56:28,840 BUT I HAVE VERY, VERY MUCH 3165 01:56:28,840 --> 01:56:31,240 INSPIRED BY HOW MUCH 3166 01:56:31,240 --> 01:56:32,760 THERE ARE RARE INTERESTS 3167 01:56:32,760 --> 01:56:34,960 DISEASE COMMUNITIES TO DO BETTER 3168 01:56:34,960 --> 01:56:36,920 IN THIS SPACE. 3169 01:56:36,920 --> 01:56:37,880 >> OK. 3170 01:56:37,880 --> 01:56:39,560 THANK YOU TO EVERYONE FOR A 3171 01:56:39,560 --> 01:56:47,160 GREAT PANEL. 3172 01:56:47,160 --> 01:56:50,000 >> I WANT TO THANK EVERYONE 3173 01:56:50,000 --> 01:56:51,760 NOTE THIS IS IMPORTANT 3174 01:56:51,760 --> 01:56:54,080 TODAY'S CONVERSATION ABOUT EQUITY, 3175 01:56:54,080 --> 01:56:55,120 DIVERSITY, IN RARE DISEASES. 3176 01:56:55,120 --> 01:56:58,440 WE WANT TO CLOSE ON SOME 3177 01:56:58,440 --> 01:57:00,720 WEBSITES YOU SHOULD VISIT 3178 01:57:00,720 --> 01:57:01,800 MORE INFORMATION. 3179 01:57:01,800 --> 01:57:03,120 I START HERE. 3180 01:57:03,120 --> 01:57:05,880 IF YOU DO YOUR RESEARCH, AND 3181 01:57:05,880 --> 01:57:06,840 LOOKING FOR FUNDING 3182 01:57:06,840 --> 01:57:07,840 OPPORTUNITIES, RELATED TO 3183 01:57:07,840 --> 01:57:08,560 RESEARCH AND DIVERSITY, I 3184 01:57:08,560 --> 01:57:17,000 ENCOURAGE YOU TO GO HERE, TO GO 3185 01:57:17,000 --> 01:57:17,560 EXTRAMURALDIVERSITY.NIH.GOV. 3186 01:57:17,560 --> 01:57:19,400 HERE ARE RESOURCES FOR FAMILIES 3187 01:57:19,400 --> 01:57:21,160 SEARCH FOR INFORMATION WITH GREETINGS 3188 01:57:21,160 --> 01:57:22,560 FOR RARE DISEASES AND PROBLEMS 3189 01:57:22,560 --> 01:57:26,560 WITH RESPECT TO EQUITY AND 3190 01:57:26,560 --> 01:57:27,840 DIVERSITY OF RARE DISEASES. 3191 01:57:27,840 --> 01:57:29,240 YOU VIEW THIS WEBSITE THAT CAN 3192 01:57:29,240 --> 01:57:30,200 BENEFIT. 3193 01:57:30,200 --> 01:57:31,520 ONCE AGAIN, THANK YOU. 3194 01:57:31,520 --> 01:57:33,880 WE HOPE TO CONTINUE 3195 01:57:33,880 --> 01:57:34,760 THIS CONVERSATION IS WITH US 3196 01:57:34,760 --> 01:57:35,560 COMMUNITY. 3197 01:57:35,560 --> 01:57:37,160 >> HELLO EVERYONE, WELCOME BACK 3198 01:57:37,160 --> 01:57:39,560 FOR RARE DISEASE DAY HERE. 3199 01:57:39,560 --> 01:57:42,680 MY NAME IS PJ BROOKS, I ACT 3200 01:57:42,680 --> 01:57:44,200 RARE OFFICE DIRECTOR 3201 01:57:44,200 --> 01:57:45,920 Z DISEASE RESEARCH, CONGRATULATIONS 3202 01:57:45,920 --> 01:57:47,280 CHAIRMAN OF THIS AVERAGE SESSION. 3203 01:57:47,280 --> 01:57:48,520 SOME OF YOU HAVE BEEN WITH US 3204 01:57:48,520 --> 01:57:50,520 OVER THE YEARS, YOU MAY REMEMBER A 3205 01:57:50,520 --> 01:57:54,320 A FEW YEARS AGO WE HAD A 3206 01:57:54,320 --> 01:57:56,520 PRESENTATION BY TIM AND JULIE ON 3207 01:57:56,520 --> 01:57:59,080 OLIGONUCLEOTIDE DIRECTOR 3208 01:57:59,080 --> 01:58:00,920 THERAPY FOR SINGLE PATIENTS. 3209 01:58:00,920 --> 01:58:02,200 AND MANY YEARS SINCE THEN 3210 01:58:02,200 --> 01:58:03,720 THERE IS ALREADY SUBSTANTIAL 3211 01:58:03,720 --> 01:58:05,720 PROGRESS IN ADAPTATION 3212 01:58:05,720 --> 01:58:08,880 THE APPROACH IS CALLED N OF 1 3213 01:58:08,880 --> 01:58:10,080 A FURTHER OLIGONUCLEOTIDE APPROACH 3214 01:58:10,080 --> 01:58:11,200 DISEASES AND THAT'S US 3215 01:58:11,200 --> 01:58:13,320 WILL FOCUS ON TODAY SO WE HAVE IT 3216 01:58:13,320 --> 01:58:16,160 SOME OF THE SPEAKERS INCLUDED BART 3217 01:58:16,160 --> 01:58:18,400 ROGERS OF THE U.S. FDA CENTER 3218 01:58:18,400 --> 01:58:21,920 DRUG EVALUATION. MEHMET KUZU, 3219 01:58:21,920 --> 01:58:24,280 RARE DISEASE PATIENT, SCOTT 3220 01:58:24,280 --> 01:58:25,920 THE DEAREST, UNIVERSITY OF COLORADO 3221 01:58:25,920 --> 01:58:28,040 AND ADELINE VANDEVER, UNIVERSITY 3222 01:58:28,040 --> 01:58:28,880 UNIVERSITY OF PENNSYLVANIA WHO 3223 01:58:28,880 --> 01:58:31,120 WILL BE OUR AND THEIR SPEAKER 3224 01:58:31,120 --> 01:58:32,480 THEN WILL MAKE A PRESENTATION 3225 01:58:32,480 --> 01:58:33,920 WE WILL HAVE TIME TO OPEN 3226 01:58:33,920 --> 01:58:36,000 DISCUSSION. SO LET ME FIRST HAND 3227 01:58:36,000 --> 01:58:39,560 IT'S GOING TO HOBART ROGERS. 3228 01:58:39,560 --> 01:58:41,840 >> GOOD AFTERNOON, EVERYONE, ME 3229 01:58:41,840 --> 01:58:45,160 NAME IS HOBART ROGERS, CLINICIAN 3230 01:58:45,160 --> 01:58:46,600 PHARMACOLOGY, FDA OFFICE 3231 01:58:46,600 --> 01:58:48,080 CLINICAL PHARMACOLOGY AND 3232 01:58:48,080 --> 01:58:49,200 TRANSLATION DIVISION 3233 01:58:49,200 --> 01:58:50,360 PRECISION TREATMENT. I HAVE 3234 01:58:50,360 --> 01:58:52,040 HAVE BEEN ASKED TO TALK ABOUT NEW 3235 01:58:52,040 --> 01:58:54,400 TODAY'S GUIDE AND IND 3236 01:58:54,400 --> 01:58:56,000 SUBMISSIONS FOR INDIVIDUALS 3237 01:58:56,000 --> 01:58:57,960 AL GO NUCLEOTIDE ANTISENSE DRUG 3238 01:58:57,960 --> 01:58:59,520 PRODUCTS FOR LIVING FACILITIES 3239 01:58:59,520 --> 01:59:00,800 SAVING DISEASES AND SPECIFICALLY 3240 01:59:00,800 --> 01:59:02,120 TALK ABOUT CLINICAL 3241 01:59:02,120 --> 01:59:03,480 GUIDE. THERE ARE TWO BROTHERS 3242 01:59:03,480 --> 01:59:04,520 GUIDELINES ARE PUBLISHED THROUGHOUT 3243 01:59:04,520 --> 01:59:06,680 SAME TIME, ONE CONNECT GUIDE 3244 01:59:06,680 --> 01:59:08,600 WITH CLINICAL - CHEMISTRY 3245 01:59:08,600 --> 01:59:10,640 MANUFACTURING AND CONTROL, THE 3246 01:59:10,640 --> 01:59:12,200 OTHER CMC GUIDELINES 3247 01:59:12,200 --> 01:59:13,200 NON CLINICAL GUIDELINES, 3248 01:59:13,200 --> 01:59:14,480 DEEP SPECIAL SPEAKING 3249 01:59:14,480 --> 01:59:17,200 SHORT SESSION TO OUR CLINIC 3250 01:59:17,200 --> 01:59:18,680 GUIDE. I HAVE WORKED IN 3251 01:59:18,680 --> 01:59:20,160 PRIVATE MEDICINE ROOM 3252 01:59:20,160 --> 01:59:21,480 ALL THE TIME SINCE THE FDA AND 3253 01:59:21,480 --> 01:59:23,400 IT'S IMPORTANT TO DETERMINE THE TERMS HERE P 3254 01:59:23,400 --> 01:59:25,400 DISCOVER PERSONAL TREATMENT 3255 01:59:25,400 --> 01:59:26,760 THE RIGHT MEDICINE ON THE SHELF FOR 3256 01:59:26,760 --> 01:59:28,560 TAKE CARE OF PATIENTS OR AS WE HAVE 3257 01:59:28,560 --> 01:59:30,400 NEW ARMAMENTARIUM WITH 3258 01:59:30,400 --> 01:59:30,960 INDIVIDUAL MEDICINE FOR 3259 01:59:30,960 --> 01:59:32,960 CREATE THE RIGHT MEDICINE AT THE HIGHEST 3260 01:59:32,960 --> 01:59:33,960 CUSTOMIZABLE FASHION FOR TREATMENT 3261 01:59:33,960 --> 01:59:35,080 PATIENTS, SOMETIMES THIS 3262 01:59:35,080 --> 01:59:38,120 DRUG KNOWN AS N OF 1 OR 3263 01:59:38,120 --> 01:59:47,000 SPEECH THERAPY. 3264 01:59:47,000 --> 01:59:48,840 >> I'LL GIVE YOU THE EDGE 3265 01:59:48,840 --> 01:59:50,240 TASTE NOTES ABOUT OUR DRAFT 3266 01:59:50,240 --> 01:59:51,600 GUIDELINES PUBLISHED AT FDA 3267 01:59:51,600 --> 01:59:54,040 WEBSITES AND WHEN I'M GOING TO WALK 3268 01:59:54,040 --> 01:59:55,800 THIS GUIDE STATES TABLES 3269 01:59:55,800 --> 01:59:57,800 FOR OUR KEY DISCUSSION LATER 3270 01:59:57,800 --> 01:59:58,720 CONSIDERATIONS IN THIS 3271 01:59:58,720 --> 02:00:00,200 FIELD. SO I WILL START 3272 02:00:00,200 --> 02:00:02,800 TALK ABOUT HUMAN ETHICAL SUBJECTS 3273 02:00:02,800 --> 02:00:03,680 PROTECTION CONSIDERATIONS, 3274 02:00:03,680 --> 02:00:05,600 DIAGNOSTICS AND GENETICS 3275 02:00:05,600 --> 02:00:06,680 CONSIDERATIONS, DOSAGE 3276 02:00:06,680 --> 02:00:09,800 CONSIDERATION, FOR THIS NEW ONE 3277 02:00:09,800 --> 02:00:11,840 THERAPEUTIC, ANTICIENCE 3278 02:00:11,840 --> 02:00:12,560 EXISTING OLIGONUCLEOTIDES 3279 02:00:12,560 --> 02:00:14,520 IN THE SCENES OF THE LAST DECADE AND 3280 02:00:14,520 --> 02:00:17,480 NEW ARMAMENTARIUM TODAY, I WANT IT 3281 02:00:17,480 --> 02:00:18,800 TO TALK ABOUT MEDICINAL PRODUCTS 3282 02:00:18,800 --> 02:00:20,200 ADMINISTRATIVE PROCEDURES, 3283 02:00:20,200 --> 02:00:22,600 SAFETY ASSESSMENT LIKE THIS 3284 02:00:22,600 --> 02:00:23,600 OLIGONUCLEOTIDES HAVE A UNIQUE 3285 02:00:23,600 --> 02:00:24,800 SAFETY AND IMPORTANT ISSUE 3286 02:00:24,800 --> 02:00:25,840 CLINICAL ASSESSMENT 3287 02:00:25,840 --> 02:00:29,920 RESPONSE. NOW, WITHIN THE SCOPE OF THE DAY 3288 02:00:29,920 --> 02:00:32,280 WE'LL JUST TALK ABOUT VEERLY 3289 02:00:32,280 --> 02:00:34,280 WEAKING OR LIFE THREATENING 3290 02:00:34,280 --> 02:00:34,880 GENETIC DISEASES ASSOCIATED WITH 3291 02:00:34,880 --> 02:00:37,720 GUIDELINES, THIS IS IMPORTANT 3292 02:00:37,720 --> 02:00:39,720 INDIVIDUALS WITH WILL DISEASE 3293 02:00:39,720 --> 02:00:41,280 NOT HAVING APPROPRIATE TREATMENT 3294 02:00:41,280 --> 02:00:43,200 CHOICES AND DISEASES QUICKLY 3295 02:00:43,200 --> 02:00:44,200 RESULTS OF INITIAL PROGRESS 3296 02:00:44,200 --> 02:00:46,960 DEATH OR DESTRUCTION 3297 02:00:46,960 --> 02:00:48,240 IRREVERSIBLE DEATH IN A 3298 02:00:48,240 --> 02:00:48,960 SHORT TIME FRAME WITHOUT 3299 02:00:48,960 --> 02:00:51,240 TREATMENT. SO THERE'S SOMETHING ELSE SEEN 3300 02:00:51,240 --> 02:00:52,440 EWES FOR RARE DISEASES, FDA 3301 02:00:52,440 --> 02:00:53,640 ACTIVE SUPPORT OF RARE DISEASES 3302 02:00:53,640 --> 02:00:55,640 DEVELOPMENT BUT THIS IS UNIQUE 3303 02:00:55,640 --> 02:00:57,440 SCOPE OF THE GUIDELINES. MEDICINE 3304 02:00:57,440 --> 02:00:58,480 DEVELOPMENT IN LARGE AMOUNT 3305 02:00:58,480 --> 02:00:59,800 PATIENTS DO NOT HAVE THE SAME DISEASE 3306 02:00:59,800 --> 02:01:00,720 ANTICIPATED BECAUSE 3307 02:01:00,720 --> 02:01:02,200 MECHANISM SPECIFIC 3308 02:01:02,200 --> 02:01:03,720 COMBINED ACTION OF ANTISENSE WITH 3309 02:01:03,720 --> 02:01:06,000 TREATMENT SHORTAGE 3310 02:01:06,000 --> 02:01:10,840 ANIMAL PATIENT POPULATION. SO 3311 02:01:10,840 --> 02:01:13,080 KEY CONSIDERATIONS. START 3312 02:01:13,080 --> 02:01:15,800 FROM 20,000 FEET. GENES 3313 02:01:15,800 --> 02:01:19,800 VARIANTS SHOULD BE TARGETED AT A 3314 02:01:19,800 --> 02:01:21,000 TRIAL PARTICIPANTS, ONE OR TWO IN 3315 02:01:21,000 --> 02:01:22,280 DISEASE POPULATION. THIS IS 3316 02:01:22,280 --> 02:01:24,800 HIGHLY CUSTOMIZABLE THERAPY, THE 3317 02:01:24,800 --> 02:01:26,120 INDIVIDUAL ANTICENSE DRUGS 3318 02:01:26,120 --> 02:01:29,600 THE PRODUCT MUST OWN THE WELL 3319 02:01:29,600 --> 02:01:30,960 CHEMISTRY CLASS CHARACTERIZATION. 3320 02:01:30,960 --> 02:01:34,720 THAT'S CHEMISTRY CLASS, 3321 02:01:34,720 --> 02:01:35,800 SUBSTANTIAL NON-CLINICAL 3322 02:01:35,800 --> 02:01:36,360 INFORMATION IN THE CLINICAL 3323 02:01:36,360 --> 02:01:37,760 EXPERIENCE WITH FDA. 3324 02:01:37,760 --> 02:01:41,040 THE EXAMPLE IS FOR 3325 02:01:41,040 --> 02:01:44,240 L-SHAPED FORLESING 3326 02:01:44,240 --> 02:01:45,720 HYOID SPINE OLIGOCENSY 3327 02:01:45,720 --> 02:01:50,560 NULEOTIDES AND SYSTEMIC OR 3328 02:01:50,560 --> 02:01:53,760 INTRATECCAL ROUTE OR 3329 02:01:53,760 --> 02:01:58,720 OLIGONUCLEOTIDES, P,Os WITH 3330 02:01:58,720 --> 02:02:00,760 CURRENT ROUTE. ETHICAL 3331 02:02:00,760 --> 02:02:01,840 CONSIDERATION FOR THIS 3332 02:02:01,840 --> 02:02:03,840 OLIGONUCLEOTIDE ANTIGENS. IT 3333 02:02:03,840 --> 02:02:04,640 IMPORTANTLY THEY MUST BE APPROVED 3334 02:02:04,640 --> 02:02:08,520 WITHIN THE SENSE OF THE LAW AND REVIEWED BY 3335 02:02:08,520 --> 02:02:10,400 IRB BEFORE PRESSING. WHEN 3336 02:02:10,400 --> 02:02:11,440 NEW IMPORTANT RIGHT 3337 02:02:11,440 --> 02:02:13,440 FINDINGS DEVELOPED DURING 3338 02:02:13,440 --> 02:02:15,160 RESEARCH THAT MAY BE NEEDED 3339 02:02:15,160 --> 02:02:15,800 WILLINGNESS OF TRIAL PARTICIPANTS 3340 02:02:15,800 --> 02:02:16,520 TO CONTINUE RESEARCH 3341 02:02:16,520 --> 02:02:17,760 MUST BE PROVIDED TO 3342 02:02:17,760 --> 02:02:19,320 PATIENT. FDA WANTS TO BE 3343 02:02:19,320 --> 02:02:22,600 REPEATIVE PROCESS, RECOGNIZING 3344 02:02:22,600 --> 02:02:24,120 THAT'S THE NATURE OF THE DISEASE 3345 02:02:24,120 --> 02:02:26,880 AND RAPID DEVELOPMENT OF THE DISEASE 3346 02:02:26,880 --> 02:02:28,160 MANY ARE NON-CLINICAL 3347 02:02:28,160 --> 02:02:29,240 DISCOVERY WILL CONTINUE 3348 02:02:29,240 --> 02:02:30,640 DURING THE DEVELOPMENT PERIOD 3349 02:02:30,640 --> 02:02:32,400 SO IF NEW FINDINGS OCCUR 3350 02:02:32,400 --> 02:02:34,200 WE WANT TO COMMUNICATE TO 3351 02:02:34,200 --> 02:02:37,800 PATIENTS AND AS NEW DATA 3352 02:02:37,800 --> 02:02:38,840 AVAILABLE FROM TREATMENT 3353 02:02:38,840 --> 02:02:39,800 BE PATIENT, MAKE SURE OF THAT 3354 02:02:39,800 --> 02:02:41,880 AVAILABLE. DIAGNOSIS AND 3355 02:02:41,880 --> 02:02:43,640 GENETIC CONSIDERATIONS. IT 3356 02:02:43,640 --> 02:02:44,680 CLINICAL TRIAL PARTICIPANTS 3357 02:02:44,680 --> 02:02:47,160 GENETIC DIAGNOSIS MUST CON 3358 02:02:47,160 --> 02:02:48,080 EXPLAINED THROUGH RELEVANT TESTS 3359 02:02:48,080 --> 02:02:50,200 GENE SEQUENCE, ENZYMATIC 3360 02:02:50,200 --> 02:02:52,080 ANALYZE WHAT YOU HAVE. 3361 02:02:52,080 --> 02:02:53,640 SPONSORS ARE IMPORTANT TO PROVIDE 3362 02:02:53,640 --> 02:02:55,000 THE EVIDENCE THAT ESTABLISHED IT 3363 02:02:55,000 --> 02:02:56,560 THE ROLE OF TARGETED GENE VARIANTS 3364 02:02:56,560 --> 02:02:58,200 WITH ANTICIENCE DRUGS. WHAT I MEAN 3365 02:02:58,200 --> 02:03:00,200 WITH THIS, ANTISENSE 3366 02:03:00,200 --> 02:03:01,560 OLIGONUCLEOTIDES FOR THOSE WHO 3367 02:03:01,560 --> 02:03:03,280 MAY NOT be familiar, NOT LIKE 3368 02:03:03,280 --> 02:03:06,880 SMALL MOLECULES OR PROTEIN BASED 3369 02:03:06,880 --> 02:03:08,600 THERAPEUTIC, THEY'RE RATE 3370 02:03:08,600 --> 02:03:11,040 HULU, THEY'RE TARGETING 3371 02:03:11,040 --> 02:03:13,040 MESSAGE RNA, PROTEIN RNA DNA, 3372 02:03:13,040 --> 02:03:16,160 THIS DRUG WORKS AT THE RNA LEVEL 3373 02:03:16,160 --> 02:03:17,720 BECAUSE IT MAKES PEOPLE REGRET 3374 02:03:17,720 --> 02:03:19,400 PROTEIN CAUSES DISEASE OR 3375 02:03:19,400 --> 02:03:20,280 INCREASING PROTEIN LEVELS 3376 02:03:20,280 --> 02:03:22,400 IT'S ABOUT THE SENTENCE IN THE CAUSE 3377 02:03:22,400 --> 02:03:24,280 DISEASE. SO NEED TO PROVIDE 3378 02:03:24,280 --> 02:03:25,760 EVIDENCE SHAPES THE ROLE 3379 02:03:25,760 --> 02:03:27,960 GENE VARIANTS TARGETED BY 3380 02:03:27,960 --> 02:03:33,400 ANTISENSE WAS PATHOGENIC IN TRIALS 3381 02:03:33,400 --> 02:03:34,760 DISEASE. MORE FROM SPONSORSHIP 3382 02:03:34,760 --> 02:03:36,600 MUST PROVIDE PROOF 3383 02:03:36,600 --> 02:03:37,800 UNIQUE VARIANT FOR TRIAL 3384 02:03:37,800 --> 02:03:40,000 PARTICIPANTS. DOSAGE 3385 02:03:40,000 --> 02:03:41,600 CONSIDERATIONS. AS I mentioned, 3386 02:03:41,600 --> 02:03:44,560 THIS COMPOUND IS RELATIVE 3387 02:03:44,560 --> 02:03:46,200 NEW, IN OUR CLINIC 3388 02:03:46,200 --> 02:03:47,800 ARMAMENTARIUM AND MORE TO BE 3389 02:03:47,800 --> 02:03:49,720 LEARN. DO IT BEGINNING 3390 02:03:49,720 --> 02:03:50,600 MUST BE AVAILABLE AT 3391 02:03:50,600 --> 02:03:52,240 NON-CLINICAL DATA. GIVEN NATURE 3392 02:03:52,240 --> 02:03:55,120 OF THIS DISEASE, IT'S CLINICAL 3393 02:03:55,120 --> 02:03:57,800 DATA IS OFTEN VERY LIMITED 3394 02:03:57,800 --> 02:03:58,880 AWAY AND ACCRUING THROUGHOUT 3395 02:03:58,880 --> 02:04:00,880 COURSE OF STUDY. SO BE BASED 3396 02:04:00,880 --> 02:04:02,640 THAT THE INITIAL DOSAGE SHOULD BE 3397 02:04:02,640 --> 02:04:05,440 CALCULATE ON INTERSPECIES DOSAGE 3398 02:04:05,440 --> 02:04:06,800 COMPARISON OF MORE INFORMATION 3399 02:04:06,800 --> 02:04:10,440 FOUND IN OUR NON CLINICS 3400 02:04:10,440 --> 02:04:11,440 LEVEL TOPIC GUIDE. GIVEN 3401 02:04:11,440 --> 02:04:12,440 NON CLINICAL DATA LIMITED WHEN 3402 02:04:12,440 --> 02:04:14,000 SPONSOR STARTED DOSAGE 3403 02:04:14,000 --> 02:04:15,160 MUST CONSIDER DOSAGE 3404 02:04:15,160 --> 02:04:17,160 THE ESCALATION OR DOSAGE APPROACH IS 3405 02:04:17,160 --> 02:04:19,160 STARTED AND UPGRADED TO 3406 02:04:19,160 --> 02:04:21,720 BASED ON HIGHER DOSES 3407 02:04:21,720 --> 02:04:24,080 PHARMACODYNAMIC EFFECTS OF PD 3408 02:04:24,080 --> 02:04:25,200 AND/OR TRIAL PARTICIPANTS 3409 02:04:25,200 --> 02:04:27,000 INVESTIGATIVE DRUG RESPONSE 3410 02:04:27,000 --> 02:04:29,120 PRODUCTS ARE ALSO AVAILABLE 3411 02:04:29,120 --> 02:04:30,480 DATA IS NOT AVAILABLE SO USE IT 3412 02:04:30,480 --> 02:04:31,920 EVERYTHING IS AVAILABLE TO US 3413 02:04:31,920 --> 02:04:32,640 GUIDELINES ON THIS DOSAGE 3414 02:04:32,640 --> 02:04:35,200 CONSIDERATIONS. FIRST GIVEN IT 3415 02:04:35,200 --> 02:04:36,360 LIMITED PROPERTIES OF 3416 02:04:36,360 --> 02:04:37,400 NON-CLINICAL DATA SPONSORS 3417 02:04:37,400 --> 02:04:39,400 SHOULD INCREASE THE DOSAGE CAREFULLY 3418 02:04:39,400 --> 02:04:40,960 DURING A USUAL INCREASE IN DOSAGE 3419 02:04:40,960 --> 02:04:42,960 INCREASE NO MORE THAN DOUBLE. 3420 02:04:42,960 --> 02:04:44,400 I SHOULD NOTE IT'S NOT LIKE SMALL 3421 02:04:44,400 --> 02:04:46,520 MOLECULE OR PROTEIN BASED 3422 02:04:46,520 --> 02:04:48,080 THERAPEUTIC ANTICIENCE 3423 02:04:48,080 --> 02:04:50,080 OLIGONUCLEOTIDES HAVE RELATIVE 3424 02:04:50,080 --> 02:04:51,760 IN GENERAL LONG PHARMACODYNAMICS 3425 02:04:51,760 --> 02:04:53,240 HALF YOUR LIFE SO THIS IS IMPORTANT 3426 02:04:53,240 --> 02:04:55,560 THAT WE GIVE YOU ENOUGH TIME 3427 02:04:55,560 --> 02:04:56,920 RESERVE RESPONSE TO DOSE 3428 02:04:56,920 --> 02:04:58,600 CHANGE BEFORE DOING ANY FURTHER 3429 02:04:58,600 --> 02:04:59,960 MODIFICATIONS. AGAIN EVEN THOUGH 3430 02:04:59,960 --> 02:05:02,960 MAY NOT BE DETECTED FROM 3431 02:05:02,960 --> 02:05:05,800 PHARMACOKINETIC STANDARDS A 3432 02:05:05,800 --> 02:05:06,960 CHANGING RNA PHARMACODYNAMICALLY 3433 02:05:06,960 --> 02:05:08,400 AND DOWNSTREAM PROTEINS MAY TAKE UP 3434 02:05:08,400 --> 02:05:10,200 TEMPORARY, ALLOW ENOUGH TIME 3435 02:05:10,200 --> 02:05:12,320 TO INCREASE THE DOSAGE. THERE IS 3436 02:05:12,320 --> 02:05:13,600 UNIQUE ADMINISTRATION 3437 02:05:13,600 --> 02:05:15,080 CONSIDERATIONS FOR THIS, SEVERAL 3438 02:05:15,080 --> 02:05:17,400 THIS ANTICENSE 3439 02:05:17,400 --> 02:05:19,280 OLIGONUCLEOTIDES ARE 3440 02:05:19,280 --> 02:05:20,840 PROVIDED INTERTECALLY TO 3441 02:05:20,840 --> 02:05:23,480 TARGETS OF CNS DISEASES. THEY SHOULD 3442 02:05:23,480 --> 02:05:25,880 ADMINISTER STARTED THE DOSAGE FOR EACH 3443 02:05:25,880 --> 02:05:26,920 IMPROVEMENT IN PATIENTS 3444 02:05:26,920 --> 02:05:30,360 ARRANGEMENT. AND MONITORING PATIENTS 3445 02:05:30,360 --> 02:05:32,000 FOR THE NEXT 24 HOURS 3446 02:05:32,000 --> 02:05:33,800 EFFECTS OF DRUGS OR 3447 02:05:33,800 --> 02:05:35,680 ADMINISTRATIVE PROBLEMS 3448 02:05:35,680 --> 02:05:37,640 ENTERTEXAL ADMINISTRATION. ONCE 3449 02:05:37,640 --> 02:05:39,320 SUFFICIENT TIME IS ALLOWED 3450 02:05:39,320 --> 02:05:40,840 ADEQUATE SPONSORSHIP 3451 02:05:40,840 --> 02:05:42,400 SAFETY CHARACTERIZATION AND 3452 02:05:42,400 --> 02:05:44,040 TOLERABILITY AT THIS ADMINISTERED DOSE 3453 02:05:44,040 --> 02:05:45,760 CAN BE DONE AT 3454 02:05:45,760 --> 02:05:47,000 OUTPATIENT CLINIC SETTING. US 3455 02:05:47,000 --> 02:05:48,560 RECOGNIZE THIS CAN BE BURDENING 3456 02:05:48,560 --> 02:05:50,680 IN MANY FAMILIES, VERY LIMITED 3457 02:05:50,680 --> 02:05:53,440 LOCATIONS THAT CAN BE ADMINISTRATED 3458 02:05:53,440 --> 02:05:55,800 THIS DRUG, INTRATECAL OLIGOS 3459 02:05:55,800 --> 02:05:57,320 SO AFTER ENOUGH SAFETY 3460 02:05:57,320 --> 02:05:59,160 HAS BEEN SUFFICIENTLY QUARKIZED 3461 02:05:59,160 --> 02:06:00,720 FOLLOWING THEIR FIRST DOSAGE 3462 02:06:00,720 --> 02:06:02,480 CAN BE DONE AT 3463 02:06:02,480 --> 02:06:04,600 OUTPATIENT CLINIC SETTING, 3464 02:06:04,600 --> 02:06:06,200 BUT FOR INTRATECAL 3465 02:06:06,200 --> 02:06:07,240 OLIGONUCLEOTIDES SHOULD BE 3466 02:06:07,240 --> 02:06:08,920 EXPERIENCED MEDICAL PERSONNEL 3467 02:06:08,920 --> 02:06:11,800 AS PEDIATRIC ANESTHESIA IN 3468 02:06:11,800 --> 02:06:14,560 ADMINISTRATION THROUGH THIS PROCESS. 3469 02:06:14,560 --> 02:06:17,240 SAFETY ASSESSMENT. AGAIN, THIS 3470 02:06:17,240 --> 02:06:19,200 IT IS AN ANTICENSIVE OLIGONUCLEOTIDE 3471 02:06:19,200 --> 02:06:23,760 IT IS RELATIVELY VERY NEW 3472 02:06:23,760 --> 02:06:25,320 SPONSOR PERFORMS ROUTINE SAFETY 3473 02:06:25,320 --> 02:06:26,640 SOME ASSESSMENT DEPENDS ON 3474 02:06:26,640 --> 02:06:28,560 UNIQUE AND OLIGONUCLEOTIDES 3475 02:06:28,560 --> 02:06:31,400 BIOINFORMATICS DATA OR 3476 02:06:31,400 --> 02:06:32,800 NON-CLINICAL DATA THAT PROVIDES US WITH INFORMATION 3477 02:06:32,800 --> 02:06:35,120 NUANCE INVESTIGATION FOR THE PROGRAM 3478 02:06:35,120 --> 02:06:38,520 BESIDES, THEY SHOULD CONTINUE 3479 02:06:38,520 --> 02:06:39,760 TO MON FOR SAFETY BASED 3480 02:06:39,760 --> 02:06:41,240 ANTICIPATED HALF LIFE OF A 3481 02:06:41,240 --> 02:06:42,720 ANTICENSIVE OLIGONUCLEOTIDES 3482 02:06:42,720 --> 02:06:44,320 PRODUCT. MORE HERE 3483 02:06:44,320 --> 02:06:45,880 PHARMACODYNAMIC HALF LIFE HAS BEEN 3484 02:06:45,880 --> 02:06:47,200 THESE THINGS TEND TO BE 3485 02:06:47,200 --> 02:06:48,880 A RELATIVELY LONG HALF LIFE IN 3486 02:06:48,880 --> 02:06:50,200 INTRACELLULAR LEVEL TO CONTINUE 3487 02:06:50,200 --> 02:06:51,720 SUPPRESSES PROTEIN OR INCREASES 3488 02:06:51,720 --> 02:06:54,480 CONNECTING AND MAKING NEW PROTEINS. 3489 02:06:54,480 --> 02:06:57,400 NOW, IN A FEW PAIRS OF OLIGOEWE CLEO 3490 02:06:57,400 --> 02:07:00,120 WITH PHOSPHORYLATED BACKBONE 3491 02:07:00,120 --> 02:07:01,960 THERE IS A RICK OF CYTOPENIA, 3492 02:07:01,960 --> 02:07:03,600 TERM EVENTS CAN BE SERIOUS 3493 02:07:03,600 --> 02:07:05,880 DEEP ANTISENSE OLIGONUCLEOTIDES 3494 02:07:05,880 --> 02:07:07,760 THIS SPACE HAS THE BACKBONE 3495 02:07:07,760 --> 02:07:09,600 NOTE 3496 02:07:09,600 --> 02:07:11,760 THROMBOCYTOPENIA AND SPONSORSHIP 3497 02:07:11,760 --> 02:07:12,880 PLATELET NUMBER INTERVIEW FORM 3498 02:07:12,880 --> 02:07:17,200 EVERY TWO WEEKS OFFER OR BEFORE 3499 02:07:17,200 --> 02:07:18,760 DOSAGE ADMINISTRATION, ANYTIME 3500 02:07:18,760 --> 02:07:21,120 MORE OFTEN. AND LAST BUT NOT 3501 02:07:21,120 --> 02:07:21,760 AT LEAST, THIS IS VERY IMPORTANT 3502 02:07:21,760 --> 02:07:22,880 TO TODAY'S AUDIENCE, THIS 3503 02:07:22,880 --> 02:07:24,440 CLINICAL ASSESSMENT 3504 02:07:24,440 --> 02:07:25,800 RESPONSE. THERE ARE NUMBERS 3505 02:07:25,800 --> 02:07:27,640 TOOLS AVAILABLE FOR SPONSORS 3506 02:07:27,640 --> 02:07:29,440 USE CLINICAL JUDGMENT. FOR 3507 02:07:29,440 --> 02:07:30,680 INSTANTLY THEY CAN USE THE CLINICAL 3508 02:07:30,680 --> 02:07:32,600 RESULTS ASSESSMENT SCALE, 3509 02:07:32,600 --> 02:07:34,160 PERFORMANCE BASED ASSESSMENT, 3510 02:07:34,160 --> 02:07:36,240 VERY IMPORTANT, FOR THE VIEWER 3511 02:07:36,240 --> 02:07:38,440 IN MANY CASES IT IS THE SUPERVISOR 3512 02:07:38,440 --> 02:07:39,720 REPORTING CHANGES AND SIGNALS. 3513 02:07:39,720 --> 02:07:40,800 FDA IS LISTENING TO PATIENTS 3514 02:07:40,800 --> 02:07:43,000 IMPORTANTLY, SIMPLE 3515 02:07:43,000 --> 02:07:44,000 SUCH MAY BENEFIT A 3516 02:07:44,000 --> 02:07:46,240 MOUSE TO KEEP SOME EVERY DAY 3517 02:07:46,240 --> 02:07:47,600 WORK LIFE OR FUNCTION. THING 3518 02:07:47,600 --> 02:07:50,920 AS WE LISTEN. FROM ALSO 3519 02:07:50,920 --> 02:07:52,520 THE IMPORTANT CONSIDERATIONS ARE 3520 02:07:52,520 --> 02:07:53,760 PHARMACODYNAMIC BIOMARKERS, 3521 02:07:53,760 --> 02:07:57,000 PROOF OF ANTISENSE CONCEPT 3522 02:07:57,000 --> 02:07:58,080 OLIGONUCLEOTIDES DO WHAT THEY DO 3523 02:07:58,080 --> 02:07:59,320 DESIGNED TO PERFORM. For example 3524 02:07:59,320 --> 02:08:01,480 IF IT STRESSES THAT PROTEIN 3525 02:08:01,480 --> 02:08:02,960 BEYOND THE UNDERLYING CAUSE 3526 02:08:02,960 --> 02:08:05,080 DISEASES, MEASUREMENTS 3527 02:08:05,080 --> 02:08:07,000 For example, the appearance of CSF proteins 3528 02:08:07,000 --> 02:08:08,600 THESE PROTEINS DECREASE 3529 02:08:08,600 --> 02:08:10,200 FOLLOW ADMINISTRATION 3530 02:08:10,200 --> 02:08:12,720 ANTICENSIVE OLIGONUCLEOTIDES ARE 3531 02:08:12,720 --> 02:08:14,280 USEFUL FOR US IN ASSESSMENT 3532 02:08:14,280 --> 02:08:15,760 THE RESPONSE TO THIS CAN BE ADJUSTED 3533 02:08:15,760 --> 02:08:18,520 PRODUCT. LAST BUT NOT LAST, 3534 02:08:18,520 --> 02:08:22,000 PROTOCOL MUST HAVE 3535 02:08:22,000 --> 02:08:23,720 A SPECIALIZED ASSESSMENT PLAN 3536 02:08:23,720 --> 02:08:24,400 CLINICAL TRIAL PARTICIPANTS 3537 02:08:24,400 --> 02:08:26,200 RESPONSE TO THE ASO INVESTIGATION 3538 02:08:26,200 --> 02:08:27,640 TO ASSURE THE RISK BENEFITS 3539 02:08:27,640 --> 02:08:29,600 VALUATION REMAINS FAVORABLE. 3540 02:08:29,600 --> 02:08:31,440 FDA ACKNOWLEDGES THIS IS UNIQUE 3541 02:08:31,440 --> 02:08:33,800 OUR PROCESS IS VERY EARLY IN 3542 02:08:33,800 --> 02:08:35,000 MOLECULE AND LEARNING CURVE 3543 02:08:35,000 --> 02:08:36,760 MAKE SURE OF THE RISK BENEFITS 3544 02:08:36,760 --> 02:08:37,360 ENTIRELY MAINTAINED 3545 02:08:37,360 --> 02:08:41,720 PROCESS. THIS GIVING. WITH 3546 02:08:41,720 --> 02:08:43,160 THAT'S AGAIN FDA REMAINS COMMITTED 3547 02:08:43,160 --> 02:08:44,400 FOR LAYER AND DISEASE PROGRAMS 3548 02:08:44,400 --> 02:08:45,560 PATIENTS REMAIN FLEXIBLE AND 3549 02:08:45,560 --> 02:08:46,440 RECOGNIZE THERE IS A LOT TO DO 3550 02:08:46,440 --> 02:08:47,920 LEARN AND WE RELY ON US 3551 02:08:47,920 --> 02:08:49,720 PATIENTS SHOULD BE BEST INFORMED BY US 3552 02:08:49,720 --> 02:08:57,280 SO THANK YOU. O 3553 02:08:57,280 --> 02:09:00,640 >> HEY, EVERYONE. I'm MEHMET 3554 02:09:00,640 --> 02:09:04,160 KUZU, FATHER OF RARE DISEASES 3555 02:09:04,160 --> 02:09:07,120 PATIENT. AND TODAY I WANT IT 3556 02:09:07,120 --> 02:09:10,640 TO TALK ABOUT OUR JOURNEY 3557 02:09:10,640 --> 02:09:12,960 TOWARDS PERSONAL ANTISENSE 3558 02:09:12,960 --> 02:09:17,640 OLIGONUCLEOTIDE THERAPY. WHO 3559 02:09:17,640 --> 02:09:22,440 IN THE PICTURE, BORN AGAIN 3560 02:09:22,440 --> 02:09:28,320 MARCH 22, 2017. AFTER TEN DAYS 3561 02:09:28,320 --> 02:09:30,880 AFTER HIS BIRTH, WE GOT A CALL 3562 02:09:30,880 --> 02:09:34,200 FROM THE PEDIATRICIAN AND HER 3563 02:09:34,200 --> 02:09:38,040 SAID THAT HE WAS CALLED 3564 02:09:38,040 --> 02:09:41,680 NEWBORN SCREEN AND SOMETHING 3565 02:09:41,680 --> 02:09:44,680 CALLED BIG IMPUGNED 3566 02:09:44,680 --> 02:09:50,880 Immunodeficiency BUT IT NEEDS TO BE RUNNING 3567 02:09:50,880 --> 02:09:51,760 TEST FOR DATE VALUE. WHEN THEY ARE 3568 02:09:51,760 --> 02:09:53,200 RUN A REAL TEST 3569 02:09:53,200 --> 02:09:56,520 HE DOESN'T HAVE A SEVERE JOINT 3570 02:09:56,520 --> 02:09:59,680 IMMUNE DEFICIENCY BUT SOMETHING 3571 02:09:59,680 --> 02:10:01,240 WEIRD ABOUT ITS IMMUNITY 3572 02:10:01,240 --> 02:10:04,880 SYSTEM. AND THEY REFER TO US 3573 02:10:04,880 --> 02:10:05,480 STANFORD FOR MORE 3574 02:10:05,480 --> 02:10:10,160 INVESTIGATION. THEN HE 3575 02:10:10,160 --> 02:10:12,120 ABOUT SIX MONTHS, WE HAVE 3576 02:10:12,120 --> 02:10:16,200 NEWS, WE LEARNED WHAT IT IS 3577 02:10:16,200 --> 02:10:18,760 CONTINUE. IT IS BASED ON 3578 02:10:18,760 --> 02:10:20,960 WHOLE EXOME SEQUENCE. AND THAT 3579 02:10:20,960 --> 02:10:24,080 IT TURNS OUT HE HAS A 3580 02:10:24,080 --> 02:10:26,840 RARE GENETIC DISEASES 3581 02:10:26,840 --> 02:10:30,600 CALLED ATAXIA TELANGIECTASIA. 3582 02:10:30,600 --> 02:10:34,240 WHICH WE HAVEN'T HEARD BEFORE. 3583 02:10:34,240 --> 02:10:39,120 AND THAT WAS SHOCKING NEWS FOR 3584 02:10:39,120 --> 02:10:41,880 US BECAUSE OF WHAT THEY SAY US 3585 02:10:41,880 --> 02:10:45,240 WHAT NO ONE KNOWS 3586 02:10:45,240 --> 02:10:47,720 HEAL AND WE CAN JUST MANAGE 3587 02:10:47,720 --> 02:10:53,040 SYMPTOMS AND THEY WILL HAVE 3588 02:10:53,040 --> 02:10:56,000 BAD CONSEQUENCES IN THE FUTURE. 3589 02:10:56,000 --> 02:10:57,440 WILL CAUSE MUSCLE LOSS 3590 02:10:57,440 --> 02:11:04,440 CONTROL AND BALANCE, THAT LEAD 3591 02:11:04,440 --> 02:11:06,360 FOR THEM SUCH PROBLEMS HE WILL NOT 3592 02:11:06,360 --> 02:11:10,800 CAN WALK. HE CAN'T 3593 02:11:10,800 --> 02:11:12,360 OBVIOUSLY SWALLOW IT EASILY, HE WILL 3594 02:11:12,360 --> 02:11:17,840 CANNOT READ AFTER A MOMENT 3595 02:11:17,840 --> 02:11:21,400 AND HAVE OTHER SUCH PROBLEMS 3596 02:11:21,400 --> 02:11:22,840 IMMUNOSIS SYSTEM FOR LUNG CANCER DISEASE 3597 02:11:22,840 --> 02:11:30,840 PROBLEM. AFTER OVERCOMING THIS 3598 02:11:30,840 --> 02:11:31,840 SHOCK, WE STARTED THE INVESTIGATION 3599 02:11:31,840 --> 02:11:33,840 TO SEE IF THERE IS SOMETHING INSIDE 3600 02:11:33,840 --> 02:11:38,040 HORIZON LIKE ANY RESEARCH 3601 02:11:38,040 --> 02:11:40,640 WHAT IS BEING DONE ABOUT 3602 02:11:40,640 --> 02:11:44,040 SUBJECT. WE TRY TO ACHIEVE 3603 02:11:44,040 --> 02:11:47,880 TO THE EXPERTS AND SOME OF US 3604 02:11:47,880 --> 02:11:50,800 FRIENDS WORK IN THIS SPACE, 3605 02:11:50,800 --> 02:11:53,880 AND ONE OF MY FRIENDS WHO IS A 3606 02:11:53,880 --> 02:11:58,360 POST DOC GENETICS ON STAN FORD 3607 02:11:58,360 --> 02:12:00,800 FIND THE PAPER AND SEND IT TO US 3608 02:12:00,800 --> 02:12:03,520 WAY, THAT'S VERY INTERESTING 3609 02:12:03,520 --> 02:12:05,640 THAT PAPER -- IT'S BRICK HA 3610 02:12:05,640 --> 02:12:08,600 THIS IS THE EXACT SAME MUTATION FROM US 3611 02:12:08,600 --> 02:12:13,280 THE PRINCESS HAS LEARNED -- HAS 3612 02:12:13,280 --> 02:12:17,120 IT WAS DISCOVERED LIKE 20 YEARS AGO AND 3613 02:12:17,120 --> 02:12:20,560 AT UCLA THEY DEVELOPED ANTISENSE 3614 02:12:20,560 --> 02:12:22,680 OLIGONUCLEOTIDES TO REPAIR IT. IN 3615 02:12:22,680 --> 02:12:23,600 LAB ENVIRONMENT AND IT 3616 02:12:23,600 --> 02:12:27,920 WORKS WELL. SO WE HAVE SO 3617 02:12:27,920 --> 02:12:31,000 CHEER UP AND WE FLY TO UCLA 3618 02:12:31,000 --> 02:12:33,200 HURRY UP AND FIND THEM 3619 02:12:33,200 --> 02:12:35,920 RESEARCHERS IN -- THEY SAY 3620 02:12:35,920 --> 02:12:37,320 YES, IT WORKS IN THE LAB 3621 02:12:37,320 --> 02:12:40,680 ENVIRONMENTAL BUT IT STILL EXISTS 3622 02:12:40,680 --> 02:12:44,880 HUGE GAPS FROM LAB EXPERIMENTS AND 3623 02:12:44,880 --> 02:12:47,960 PROVIDING IT FOR PEOPLE. 3624 02:12:47,960 --> 02:12:53,080 THIS WILL NOT HAPPEN SOON 3625 02:12:53,080 --> 02:12:54,680 THIS IS EXCITING NEWS FOR US 3626 02:12:54,680 --> 02:13:01,600 AT THAT POINT. AND THEN NOW ON 3627 02:13:01,600 --> 02:13:05,240 THIS POINT I WANT TO TALK ABOUT 3628 02:13:05,240 --> 02:13:08,840 ABOUT THE CHILDREN'S PROJECT 3629 02:13:08,840 --> 02:13:12,280 CROSSING OUR PATH IN RARE CASES 3630 02:13:12,280 --> 02:13:16,680 THE INITIAL CASE OF OUR JOURNEY. IT 3631 02:13:16,680 --> 02:13:22,000 THE PROJECT IS NOT A PROFIT FOUNDATION 3632 02:13:22,000 --> 02:13:24,640 FOR OPTIMIZATION OF DISEASE MANAGEMENT 3633 02:13:24,640 --> 02:13:27,240 NEW STRATEGIES AND DEVELOPMENTS 3634 02:13:27,240 --> 02:13:29,680 TREATMENT AND FIND A CURE 3635 02:13:29,680 --> 02:13:36,080 IN. THEY HELP US FROM 3636 02:13:36,080 --> 02:13:45,600 BEGINNING. ONE DAY THEY SHARED 3637 02:13:45,600 --> 02:13:52,120 WE CHOOSE TO TALK TO MELA. SO 3638 02:13:52,120 --> 02:13:53,440 THEN WE SEE TWO THINGS, 3639 02:13:53,440 --> 02:13:59,480 THEY ARE VERY LIKE US 3640 02:13:59,480 --> 02:14:01,840 THE CASE IS A SINGLE GENE DISEASE 3641 02:14:01,840 --> 02:14:03,200 NEURODEGENERATIVE DISEASES AND US 3642 02:14:03,200 --> 02:14:07,840 KNOW OUR SLICE OF MUTATION TYPES 3643 02:14:07,840 --> 02:14:10,720 MUTATION APPROVES ASO. THING 3644 02:14:10,720 --> 02:14:16,680 AS FIT TOGETHER AND 3645 02:14:16,680 --> 02:14:18,560 DIFFERENCE FROM UCLA LAB 3646 02:14:18,560 --> 02:14:19,800 THE EXPERIMENT IS NOW SOMEONE 3647 02:14:19,800 --> 02:14:24,000 DO IT IN HUMAN SO NOW 3648 02:14:24,000 --> 02:14:28,840 THERE IS EXCELLENT POTENTIAL 3649 02:14:28,840 --> 02:14:31,080 THERE. WE REACHED 3650 02:14:31,080 --> 02:14:36,400 TEAM IMMEDIATELY AND WE MENTION 3651 02:14:36,400 --> 02:14:38,240 LIKE OUR MUTATIONS 3652 02:14:38,240 --> 02:14:43,280 AGREE TO THIS AND WE HAVE 3653 02:14:43,280 --> 02:14:47,640 SEE A JOB IN MILA, CAN YOU 3654 02:14:47,640 --> 02:14:53,640 HELP US? WE SEND THE DOCUMENTS 3655 02:14:53,640 --> 02:14:56,600 TO HIM AND HE SAID WE CAN DO IT 3656 02:14:56,600 --> 02:14:58,440 SOMETHING. BUT THERE WILL BE ONE MORE 3657 02:14:58,440 --> 02:15:02,120 THE PROBLEM IS NOW, THE PROBLEM IS NOW 3658 02:15:02,120 --> 02:15:06,480 IT'S FINANCE. TO RUN THIS 3659 02:15:06,480 --> 02:15:11,160 LEARN AS WE DO FOR ABOUT $2 3660 02:15:11,160 --> 02:15:15,360 MILLION. HAPPILY A 3661 02:15:15,360 --> 02:15:16,320 CHILDREN'S PROJECTS ARE CONDUCTED 3662 02:15:16,320 --> 02:15:24,240 AND AGREE TO FUND THIS TRIAL. 3663 02:15:24,240 --> 02:15:27,160 BUT THIS -- FUNDING FOR A-T 3664 02:15:27,160 --> 02:15:28,560 CHILDREN'S PROJECT IS COMING 3665 02:15:28,560 --> 02:15:34,000 FROM ALL THE A-T FAMILIES. THEY 3666 02:15:34,000 --> 02:15:36,960 IT IS A TREMENDOUS EFFORT TO IMPROVE 3667 02:15:36,960 --> 02:15:41,840 DONATE AND IT WILL NOT 3668 02:15:41,840 --> 02:15:45,440 IT'S FAIR TO ACCEPT US 3669 02:15:45,440 --> 02:15:47,360 DAUGHTER. SO WE NEED A LOT 3670 02:15:47,360 --> 02:15:50,560 -- BETTER PROCESS FOR 3671 02:15:50,560 --> 02:15:55,480 THE CHOICE IS THE CHOICE 3672 02:15:55,480 --> 02:16:01,440 PATIENT. A-TCP HAS GENETICS 3673 02:16:01,440 --> 02:16:08,520 BANK FOR CHILDREN. AND LAB 3674 02:16:08,520 --> 02:16:11,080 DETECTION OF YOUNG CHILDREN QUICKLY 3675 02:16:11,080 --> 02:16:14,440 WHOSE MUTATIONS ARE ACCEPTABLE 3676 02:16:14,440 --> 02:16:20,040 ASO THERAPY, AND INCLUDE THREE 3677 02:16:20,040 --> 02:16:25,760 YOUNG PEOPLE ARE SELECTED FOR THE LAB 3678 02:16:25,760 --> 02:16:28,360 EXPERIMENT. THEN IT HAS A LOT 3679 02:16:28,360 --> 02:16:32,040 EXPERIMENT RESULTS FOR US 3680 02:16:32,040 --> 02:16:36,320 PRINCESS BUT HERE IT SAYS WHEN 3681 02:16:36,320 --> 02:16:43,640 HE USUALLY HAS A PATHOGENIC 3682 02:16:43,640 --> 02:16:47,360 PROTEINS. SO HE DOESN'T PRODUCE 3683 02:16:47,360 --> 02:16:51,200 GOOD PROTEIN. THEN THEY 3684 02:16:51,200 --> 02:16:55,280 TRY DIFFERENT ASO AND ON 3685 02:16:55,280 --> 02:16:59,440 A LINE LIKE THIS, ASO NUMBER 3686 02:16:59,440 --> 02:17:02,040 8, WHEN THEY TRY TO CELL 3687 02:17:02,040 --> 02:17:05,360 THIS LINE PRODUCES A HEALTHY 55% 3688 02:17:05,360 --> 02:17:13,640 PROTEINS. ORDINARY ATM. THESE THREE 3689 02:17:13,640 --> 02:17:18,440 CHILDREN, ATMS ARE NORMALLY 55% THIS 3690 02:17:18,440 --> 02:17:22,040 BEST RESULTS. SO TO 3691 02:17:22,040 --> 02:17:27,280 OTHER CHILDREN LIKE THIS 3692 02:17:27,280 --> 02:17:30,160 LESS PERCENTAGE. SO THEN 3693 02:17:30,160 --> 02:17:32,840 WE BASED ON THESE RESULTS 3694 02:17:32,840 --> 02:17:35,280 THE PRINCESS WAS CHOSEN FOR 3695 02:17:35,280 --> 02:17:40,640 PATIENT AT FIRST TO TRY ASO. 3696 02:17:40,640 --> 02:17:46,720 AND THEN ALMOST A YEAR THEY DID 3697 02:17:46,720 --> 02:17:50,920 RUN TOXICOLOGICAL EXPERIMENTS AND 3698 02:17:50,920 --> 02:17:56,680 WHEN HE WAS ABOUT 2 1/2 YEARS OLD 3699 02:17:56,680 --> 02:18:05,360 OLD, EARLY 2020, HE STARTED 3700 02:18:05,360 --> 02:18:07,120 GETTING ANTICENSE 3701 02:18:07,120 --> 02:18:10,960 OLIGONUCLEOTIDES. SO, HAVE IT 3702 02:18:10,960 --> 02:18:16,120 ALMOST TWO YEARS SO FAR. BUT IN 3703 02:18:16,120 --> 02:18:18,120 THIS POINT IS STILL -- US 3704 02:18:18,120 --> 02:18:23,080 HAVE NO CONCRETE ANSWER. that 3705 02:18:23,080 --> 02:18:28,560 WORKS WELL. WHAT CAN I SAY 3706 02:18:28,560 --> 02:18:31,720 IS THAT THE MOST MISSING 3707 02:18:31,720 --> 02:18:33,400 THE APPROACH TO THIS POINT IS FOR ALL 3708 02:18:33,400 --> 02:18:36,480 A-T AND THERE COMMUNITIES 3709 02:18:36,480 --> 02:18:40,600 THERE ARE STILL MANY THINGS YOU DON'T KNOW 3710 02:18:40,600 --> 02:18:44,440 LEARNING BUT WE ARE EXCITED 3711 02:18:44,440 --> 02:18:48,360 AND WE HOPE WE CAN GIVE 3712 02:18:48,360 --> 02:18:52,320 GOOD NEWS FOR EVERYONE AT 3713 02:18:52,320 --> 02:18:54,240 THE FUTURE. THANK YOU, MUCH 3714 02:18:54,240 --> 02:19:02,040 TO LISTEN AND OWN ME. 3715 02:19:02,040 --> 02:19:04,840 >> HI. THANK YOU FOR THE INVITATION 3716 02:19:04,840 --> 02:19:08,120 TO SPEAK HERE. I SPEAK 3717 02:19:08,120 --> 02:19:10,800 LAST RELATIVE NAME 3718 02:19:10,800 --> 02:19:12,120 A COLLABORATION WAS FORMED TO TRY 3719 02:19:12,120 --> 02:19:17,200 FORWARD TYPE N FROM THIS 1 3720 02:19:17,200 --> 02:19:19,320 THERAPEUTIC IS CALLED N OF 1 3721 02:19:19,320 --> 02:19:20,760 COLLABORATION. I AM A PART OF IT 3722 02:19:20,760 --> 02:19:21,920 VISITORS COMMITTEE FOR IT AND 3723 02:19:21,920 --> 02:19:24,080 I WANT TO INTRODUCE EVERYONE 3724 02:19:24,080 --> 02:19:25,720 OUR COLLABORATION AND WHAT WE DO 3725 02:19:25,720 --> 02:19:29,720 ALREADY TRYING TO ACHIEVE. WHAT AM I 3726 02:19:29,720 --> 02:19:31,800 WILL TRY TO WORK TODAY 3727 02:19:31,800 --> 02:19:34,800 IN SHORT SPEECH THIS IS HOW WE ARE 3728 02:19:34,800 --> 02:19:36,280 GET TO WHERE WE ARE NOW AND WHY 3729 02:19:36,280 --> 02:19:37,120 NOW, WHY IT'S TIME 3730 02:19:37,120 --> 02:19:39,080 TRY TO IMPROVE THIS KIND 3731 02:19:39,080 --> 02:19:41,200 WORKS. WHO WE ARE, WHAT WE ARE 3732 02:19:41,200 --> 02:19:44,400 MISSION, VISION AND VALUES? AND 3733 02:19:44,400 --> 02:19:45,520 STRUCTURALLY WHAT ARE OUR EXPECTATIONS 3734 02:19:45,520 --> 02:19:48,400 TO TRY TO SUPPORT THIS TYPE N 3735 02:19:48,400 --> 02:19:52,720 FROM 1 THERAPEUTICS BROADLY 3736 02:19:52,720 --> 02:19:57,760 TASTE. MANY PEOPLE KNOW 3737 02:19:57,760 --> 02:20:02,440 WITH -- THIS STORY IS 3738 02:20:02,440 --> 02:20:05,080 STARTING WITH THE TEAM, MILA. A LOT 3739 02:20:05,080 --> 02:20:08,640 PEOPLE MAY NOT REALIZE WHY 3740 02:20:08,640 --> 02:20:11,320 AM I INVOLVED? THEY COME FROM 3741 02:20:11,320 --> 02:20:12,440 COLORADO AND I AM THEM 3742 02:20:12,440 --> 02:20:14,320 TREATING A DOCTOR AS A TRIAL 3743 02:20:14,320 --> 02:20:15,920 PROGRESS AND WE ARE FINALLY 3744 02:20:15,920 --> 02:20:20,520 BROUGHT IT BACK TO COLORADO. SO 3745 02:20:20,520 --> 02:20:24,680 WE STARTED WITH A SINGLE PATIENT 3746 02:20:24,680 --> 02:20:28,320 EXACTLY. MILA. AND WE HAVE 3747 02:20:28,320 --> 02:20:32,360 MOVE IT TO ALL OTHER PEOPLE 3748 02:20:32,360 --> 02:20:34,320 INITIATIVES THAT HAVE BEEN CARRIED OUT 3749 02:20:34,320 --> 02:20:36,840 WORN BY VARIOUS GROUPS, BOB 3750 02:20:36,840 --> 02:20:45,120 BROWN, JOHN WATTS, KNEELS 3751 02:20:45,120 --> 02:20:46,160 SCHNEIDER, THEIR RAPID POWER AND 3752 02:20:46,160 --> 02:20:49,040 OLIGONUCLEOTIDE SOCIETY, AMIKA 3753 02:20:49,040 --> 02:20:50,680 ALSO RUN DUTCH CENTER BS 3754 02:20:50,680 --> 02:20:52,600 Advances in RNA Therapy 3755 02:20:52,600 --> 02:20:54,240 INCREASING N OF 1 THERAPY ON 3756 02:20:54,240 --> 02:20:57,880 EUROPE TOO, AND STAN CROOK 3757 02:20:57,880 --> 02:21:01,960 AND LOREM AND FRANK BENNETT AND 3758 02:21:01,960 --> 02:21:03,320 THEIR SUPPORT N OF 1 3759 02:21:03,320 --> 02:21:04,720 THERAPY WITH KNOWLEDGE AND 3760 02:21:04,720 --> 02:21:10,520 THE EXPERIENCE THAT I BRING. SO 3761 02:21:10,520 --> 02:21:12,520 WHY NOW? WHY THIS IS TRUE 3762 02:21:12,520 --> 02:21:15,320 WHEN WE START TALKING 3763 02:21:15,320 --> 02:21:17,960 ABOUT N OF 1 THERAPY? THERE IS 3764 02:21:17,960 --> 02:21:19,320 SOME FACTORS ARE IMPORTANT 3765 02:21:19,320 --> 02:21:21,920 HERE. DEFINITELY TECHNOLOGY 3766 02:21:21,920 --> 02:21:23,240 IMPROVEMENT. THIS IS WHAT HE WILL HAVE 3767 02:21:23,240 --> 02:21:24,440 MAYBE FROM A 3768 02:21:24,440 --> 02:21:25,840 TEN TECHNOLOGICAL PERSPECTIVES 3769 02:21:25,840 --> 02:21:29,000 LAST YEAR. THAT'S NEW 3770 02:21:29,000 --> 02:21:33,280 DEVELOPMENT OF DRUGS, SOME OF THE 3771 02:21:33,280 --> 02:21:34,880 THINGS BART REFERRED TO ASO 3772 02:21:34,880 --> 02:21:37,480 MEDICINE CLASS BUT ALSO CLASS 3773 02:21:37,480 --> 02:21:40,320 DRUG DEVELOPMENT IN CRISPER 3774 02:21:40,320 --> 02:21:41,760 AS WELL AS OTHER TYPES OF GENES 3775 02:21:41,760 --> 02:21:44,320 EDIT PLATFORMS. SO IT'S LIKE THIS 3776 02:21:44,320 --> 02:21:46,480 DRUG DEVELOPMENT TECHNOLOGY 3777 02:21:46,480 --> 02:21:48,320 ADULT UNTIL WE REALLY DO 3778 02:21:48,320 --> 02:21:51,280 ALREADY STARTING TO SEE CLINICS 3779 02:21:51,280 --> 02:21:53,720 EXAMPLE, -- THIS TOOL 3780 02:21:53,720 --> 02:21:55,920 USE IN PATIENTS, FDA 3781 02:21:55,920 --> 02:21:58,680 VERY IMPORTANT GUIDELINES 3782 02:21:58,680 --> 02:22:00,120 A MARKER FOR US WALKERS 3783 02:22:00,120 --> 02:22:01,760 THIS FIELD AND ITS NEEDS 3784 02:22:01,760 --> 02:22:03,920 ABLE TO START DEVELOPING 3785 02:22:03,920 --> 02:22:04,840 INDIVIDUAL MEDICINE BUT 3786 02:22:04,840 --> 02:22:06,920 IDEALLY DO IT COLLABORATIVELY 3787 02:22:06,920 --> 02:22:10,000 WAY HA SUPPORTS CROSSWORD LEARNING. 3788 02:22:10,000 --> 02:22:11,480 THANK YOU FOR GIVING SOME 3789 02:22:11,480 --> 02:22:13,360 INSIGHTS INTO THE FDA'S PERSPECTIVE 3790 02:22:13,360 --> 02:22:17,680 AROUND THIS. WE HAVE AN 3791 02:22:17,680 --> 02:22:18,760 THE NUMBER IS INCREASING EXPONENTIALLY 3792 02:22:18,760 --> 02:22:21,680 EFFORTS OCCURRED BY 3793 02:22:21,680 --> 02:22:24,120 DIFFERENT GROUPS, THIS CREATES A 3794 02:22:24,120 --> 02:22:26,000 NEED A WAY TO ORGANIZE 3795 02:22:26,000 --> 02:22:27,440 DIFFERENT EFFORTS IN ORDER 3796 02:22:27,440 --> 02:22:28,920 MAXIMIZE THE IMPACT OF ANYONE 3797 02:22:28,920 --> 02:22:30,360 PROJECT. WE WANT TO THINK YES, 3798 02:22:30,360 --> 02:22:33,240 WE WANT THIS IMPACT 3799 02:22:33,240 --> 02:22:35,120 SPECIAL PATIENTS OFFERED 3800 02:22:35,120 --> 02:22:37,040 BUT I ALSO WANT TO KNOW HOW 3801 02:22:37,040 --> 02:22:41,440 IT IMPROVES SCIENCE AS A WHOLE 3802 02:22:41,440 --> 02:22:42,640 TO BE ABLE TO TREAT MORE 3803 02:22:42,640 --> 02:22:44,200 PATIENT. I FINALLY WANT IT 3804 02:22:44,200 --> 02:22:45,640 TALK ABOUT ASO SPECIFICALLY 3805 02:22:45,640 --> 02:22:47,640 AND WHY WE THINK IT'S BEGINNING 3806 02:22:47,640 --> 02:22:51,320 WITH ASO? N OF OUR ONE 3807 02:22:51,320 --> 02:22:52,440 SPECIAL COLLABORATION SHOTS FOR 3808 02:22:52,440 --> 02:22:54,120 ASO, WE LOVE TO SUPPORT 3809 02:22:54,120 --> 02:22:55,880 N OF 1 THERAPEUTIC AROUND ANYTHING 3810 02:22:55,880 --> 02:22:57,760 NUMBER OF TREATMENT MODALITIES. 3811 02:22:57,760 --> 02:22:59,280 BUT WE'RE STARTING WITH 3812 02:22:59,280 --> 02:23:02,120 THOUGHT PROCESS AROUND ASO 3813 02:23:02,120 --> 02:23:05,320 BECAUSE THEY REALLY LEAD IT 3814 02:23:05,320 --> 02:23:07,960 STREET IN N OF 1 SPACE. 3815 02:23:07,960 --> 02:23:10,320 THE PRICE IS RELATIVELY CHEAP 3816 02:23:10,320 --> 02:23:11,960 TO MAKE RELATIVELY. THEY 3817 02:23:11,960 --> 02:23:14,720 RELATIVELY EASY TO GIVE. 3818 02:23:14,720 --> 02:23:17,960 RELATIVELY. AND WE HAVE GROWN 3819 02:23:17,960 --> 02:23:20,520 SUPPORTING SAFETY DATA 3820 02:23:20,520 --> 02:23:21,640 ABILITY TO PROVIDE TREATMENT ON 3821 02:23:21,640 --> 02:23:24,160 PATIENT. AND FINALLY, THEY 3822 02:23:24,160 --> 02:23:27,320 CAN BE QUICKLY ADJUSTED. THAT'S IT 3823 02:23:27,320 --> 02:23:30,760 NOT TO SAY GENE EDITING OR OTHERWISE 3824 02:23:30,760 --> 02:23:33,720 PIE -- ANOTHER TYPE OF THERAPY 3825 02:23:33,720 --> 02:23:34,960 NOT COMPATIBLE AND 3826 02:23:34,960 --> 02:23:37,560 FORWARD TOWARD N FROM 1 STATUS 3827 02:23:37,560 --> 02:23:39,320 BUT THIS MAY PROVIDE ADDITIONAL 3828 02:23:39,320 --> 02:23:40,200 OBSTACLES IN SOME OF THESE 3829 02:23:40,200 --> 02:23:42,520 DIFFERENT AREAS TO DO 3830 02:23:42,520 --> 02:23:43,360 ADVANCE THOSE WHO ARE CLOSE 3831 02:23:43,360 --> 02:23:50,280 THE FUTURE. SO WHO ARE WE? THIS 3832 02:23:50,280 --> 02:23:52,600 TIM AND MILA AND MYSELF AND 3833 02:23:52,600 --> 02:23:55,120 JULIA WITH THAT FIRST CASE. 3834 02:23:55,120 --> 02:23:57,880 STARTING IN 2018. NOW YOU'RE FAST 3835 02:23:57,880 --> 02:23:59,120 FORWARD FOUR YEARS AND YOU CAN 3836 02:23:59,120 --> 02:24:01,920 VIEW RELATIVELY ENLARGED MAP 3837 02:24:01,920 --> 02:24:04,000 WHICH SHOWS, WE REPRESENT 3838 02:24:04,000 --> 02:24:05,240 LARGE NUMBER OF ACADEMICS 3839 02:24:05,240 --> 02:24:09,120 MEDICAL CENTER, COLLABORATOR, 3840 02:24:09,120 --> 02:24:10,160 INTERNATIONAL, NOT JUST 3841 02:24:10,160 --> 02:24:10,920 ALL OVER THE UNITED STATES BUT 3842 02:24:10,920 --> 02:24:14,120 ALSO IN EUROPE. AND SEARCH 3843 02:24:14,120 --> 02:24:16,240 EXPAND THIS FURTHER AND MAKE IT GO 3844 02:24:16,240 --> 02:24:19,640 WIDER COLLABORATION. THIS 3845 02:24:19,640 --> 02:24:20,760 WHAT IS OUR VISITORS COMMITTEE? 3846 02:24:20,760 --> 02:24:23,560 IT LOOKS LIKE THIS TIME. i 3847 02:24:23,560 --> 02:24:25,680 WILL NOT GO THROUGH AND EACH NAME 3848 02:24:25,680 --> 02:24:27,000 THE INDIVIDUALS HERE ARE REPRESENTED 3849 02:24:27,000 --> 02:24:28,920 SOME ASPECTS OF EXPERTISE 3850 02:24:28,920 --> 02:24:32,320 BROUGHT TO TABLE FOR N OF 1 3851 02:24:32,320 --> 02:24:33,520 COLLABORATION. THIS IS A MIXTURE 3852 02:24:33,520 --> 02:24:35,560 FROM THE CLINIC THAT HAS BEEN 3853 02:24:35,560 --> 02:24:38,880 ENGAGE IN N OF 1 TREATMENTS 3854 02:24:38,880 --> 02:24:39,800 AS MYSELF, Ph.D. AND OTHERS 3855 02:24:39,800 --> 02:24:41,560 AND THE BASIC SCIENTISTS THAT ARE 3856 02:24:41,560 --> 02:24:46,560 DESIGNING ASO, WHICH IS WITH FDA 3857 02:24:46,560 --> 02:24:48,160 PATIENT EXPERIENCE OF PATIENTS, 3858 02:24:48,160 --> 02:24:49,720 IT'S TOTALLY SOMETHING DIFFERENT 3859 02:24:49,720 --> 02:24:53,520 INDIVIDUALS CARRYING A 3860 02:24:53,520 --> 02:24:54,640 VARIOUS BACKGROUNDS 3861 02:24:54,640 --> 02:24:57,080 AND EXPERTISE TO THE TABLE FOR 3862 02:24:57,080 --> 02:25:00,720 HELP US TO GET FORWARD 3863 02:25:00,720 --> 02:25:02,440 SAFE AND RESPONSIBLE N OF 1 3864 02:25:02,440 --> 02:25:03,520 CLINICAL TRIALS FOR CLAIRE 3865 02:25:03,520 --> 02:25:06,400 DISEASE. -- RARE DISEASES. i 3866 02:25:06,400 --> 02:25:08,200 ALSO WANT TO NOTE THANK YOU 3867 02:25:08,200 --> 02:25:14,480 TO PROVIDE THIS AND FOR DON LO 3868 02:25:14,480 --> 02:25:19,560 AND BRIAN TRAYON AND AUDREY 3869 02:25:19,560 --> 02:25:20,520 THURM THE POWERFUL PROVIDER AND 3870 02:25:20,520 --> 02:25:24,600 EXPERTS WHO GIVE US INSIGHT. 3871 02:25:24,600 --> 02:25:26,520 WHAT IS OUR VISION AND MISSION 3872 02:25:26,520 --> 02:25:29,040 VALUE AS AN ORGANIZATION? 3873 02:25:29,040 --> 02:25:31,320 Simply put, OUR MISSION IS 3874 02:25:31,320 --> 02:25:33,440 CREATING AN INDIVIDUAL GENETIC 3875 02:25:33,440 --> 02:25:35,720 MEDICINE SAFELY AND QUICKLY 3876 02:25:35,720 --> 02:25:36,520 ACCESSIBLE TO PATIENTS 3877 02:25:36,520 --> 02:25:39,560 AROUND THE WORLD. IT'S BEAUTIFUL 3878 02:25:39,560 --> 02:25:42,240 A SIMPLE, BUT BOLD STATEMENT 3879 02:25:42,240 --> 02:25:44,280 MISSION AND IT'S DEFINITELY NOT SO 3880 02:25:44,280 --> 02:25:48,200 SIMPLE TO MAKE YOUR VISION HAPPEN 3881 02:25:48,200 --> 02:25:51,600 SUPPORT IS THE FUTURE 3882 02:25:51,600 --> 02:25:52,720 INDIVIDUAL TREATMENT CENTER 3883 02:25:52,720 --> 02:25:54,840 REGULAR OFFERS WORLDWIDE 3884 02:25:54,840 --> 02:25:56,200 PATIENT ADJUSTS TREATMENT 3885 02:25:56,200 --> 02:25:57,400 BASIC TARGETING CONDITIONS 3886 02:25:57,400 --> 02:26:01,880 GENETIC CAUSES. THAT'S A 3887 02:26:01,880 --> 02:26:02,880 A BEAUTIFUL, ROMANTIC VISION 3888 02:26:02,880 --> 02:26:03,720 IT TAKES A LOT OF WORK TO GET IT 3889 02:26:03,720 --> 02:26:07,240 THERE. SO SO IT'S ACCOMPLISHED 3890 02:26:07,240 --> 02:26:08,800 THAT WE MUST BE PIONEERS OF MEDICINE 3891 02:26:08,800 --> 02:26:11,280 DEVELOPMENT FOR INDIVIDUALS 3892 02:26:11,280 --> 02:26:13,720 PATIENTS, THROUGH TWO MAINS 3893 02:26:13,720 --> 02:26:16,800 REGIONAL, FINDING COLLABORATION 3894 02:26:16,800 --> 02:26:18,360 AND MAINTAIN THE FIELD. WHAT TO DO 3895 02:26:18,360 --> 02:26:20,360 What we mean by building 3896 02:26:20,360 --> 02:26:21,280 COLLABORATION, FORMATION 3897 02:26:21,280 --> 02:26:22,840 COMMUNITY EXPECTATIONS AMONG 3898 02:26:22,840 --> 02:26:25,080 MEDICAL SCIENTISTS AND PATIENTS 3899 02:26:25,080 --> 02:26:27,680 COMMUNITY. BEST PRACTICES, 3900 02:26:27,680 --> 02:26:29,840 SAFETY AND QUALITY STANDARDS AN 3901 02:26:29,840 --> 02:26:30,520 ENSURE CLINICAL TRIALS 3902 02:26:30,520 --> 02:26:31,880 INDIVIDUAL READINESS 3903 02:26:31,880 --> 02:26:34,880 WHO CAN BE TREATMENTED. HOW DO WE 3904 02:26:34,880 --> 02:26:36,440 MAINTAINING THE FIELD, CHOOSING 3905 02:26:36,440 --> 02:26:38,400 THE RIGHT CASE, CHOOSE THE ACE CASE 3906 02:26:38,400 --> 02:26:41,440 CAN LEAD TO SUCCESS, CHOOSE 3907 02:26:41,440 --> 02:26:44,240 CASES THAT IMPROVE SAFETY 3908 02:26:44,240 --> 02:26:46,840 BECOMES MORE POSSIBLE. MINIMIZE 3909 02:26:46,840 --> 02:26:49,600 PRECLINICAL AND DUPLICATION 3910 02:26:49,600 --> 02:26:51,200 CLINICAL EFFORTS. THIS IS 3911 02:26:51,200 --> 02:26:52,000 PARTICULARLY IMPORTANT IN 3912 02:26:52,000 --> 02:26:54,640 FORM OF DATA SHARING. HOW DO WE 3913 02:26:54,640 --> 02:26:56,680 SHARE BOTH IN PRECLINICAL 3914 02:26:56,680 --> 02:26:57,720 AND THE CLINICAL SPACE WE HAVE 3915 02:26:57,720 --> 02:26:59,520 CROSS LEARNING AND CASE SUPPORT 3916 02:26:59,520 --> 02:27:01,600 CONFERENCES, SAFETY DATABASE, 3917 02:27:01,600 --> 02:27:05,520 CROSS REFERENCE VARIOUS IND 3918 02:27:05,520 --> 02:27:07,840 SUBMITTED AND WORKED TOWARDS 3919 02:27:07,840 --> 02:27:09,240 HARMONIZATION OF GLOBAL EFFORTS IN 3920 02:27:09,240 --> 02:27:14,120 VARIOUS STAGES. OUR VALUE IS 3921 02:27:14,120 --> 02:27:16,480 AROUND SCIENTIFIC PRECISION, URGENCY 3922 02:27:16,480 --> 02:27:19,480 ACCORDING TO NEEDS. AND 3923 02:27:19,480 --> 02:27:21,040 MULTI-STAKEHOLDER COLLABORATION. 3924 02:27:21,040 --> 02:27:22,160 THIS IS REALLY THE PILLAR 3925 02:27:22,160 --> 02:27:24,400 WHAT WE THINK CAN GO FORWARD 3926 02:27:24,400 --> 02:27:25,080 THIS -- THIS MISSION AND 3927 02:27:25,080 --> 02:27:31,080 VISION. STRUCTURALLY HOW ARE WE 3928 02:27:31,080 --> 02:27:32,760 SUPPORT THIS? STEERING 3929 02:27:32,760 --> 02:27:34,480 THE COMMITTEE, BRIEFLY INTRODUCED 3930 02:27:34,480 --> 02:27:37,000 YOU FOR, SUPPORTED BY NUMBERS 3931 02:27:37,000 --> 02:27:39,040 ENTERPRISES WORKING GROUP 3932 02:27:39,040 --> 02:27:43,120 PROGRESS THE VARIOUS STAGES 3933 02:27:43,120 --> 02:27:45,120 MANDATORY MOVE AWAY FROM THE PATIENT 3934 02:27:45,120 --> 02:27:46,200 SELECTION ALL THE WAYS 3935 02:27:46,200 --> 02:27:48,720 ACTUALLY TREAT PATIENTS. US 3936 02:27:48,720 --> 02:27:50,440 PROVIDING IT TO THE PATIENT 3937 02:27:50,440 --> 02:27:53,440 SELECTION, SAFETY WORKING GROUP 3938 02:27:53,440 --> 02:27:54,960 AND TOXICITY CLINICAL RESULTS 3939 02:27:54,960 --> 02:27:56,920 AND SOMEONE CAN CREATE BIOMARKERS 3940 02:27:56,920 --> 02:27:58,800 RELATED TO THAT. 3941 02:27:58,800 --> 02:28:01,320 INSTITUTIONAL IMPLEMENTATION, 3942 02:28:01,320 --> 02:28:03,520 WHICH IS ALL OF THESE THINGS 3943 02:28:03,520 --> 02:28:05,320 NOT SEXY BUT CHALLENGING 3944 02:28:05,320 --> 02:28:09,000 THROUGH. AND THEN REALLY 3945 02:28:09,000 --> 02:28:12,720 WHAT IS IMPORTANT IS ETHICS AND EQUALITY. 3946 02:28:12,720 --> 02:28:14,840 IN EACH OF THESE, THIS IS 3947 02:28:14,840 --> 02:28:15,720 JUST A TASTE OF SOME 3948 02:28:15,720 --> 02:28:18,080 FROM THAT TYPE OF WORK 3949 02:28:18,080 --> 02:28:19,880 ENTERPRISES WORKING GROUP 3950 02:28:19,880 --> 02:28:21,640 FACE. WHAT ALGORITHM WILL DO 3951 02:28:21,640 --> 02:28:22,920 IT LOOKS LIKE PATIENT SELECTION 3952 02:28:22,920 --> 02:28:25,240 THAT WILL HELP GUARANTEE SAFETY 3953 02:28:25,240 --> 02:28:28,960 AND SUCCESSFUL. CAN WE DEVELOP 3954 02:28:28,960 --> 02:28:31,640 CASE FILES THAT MUST BE DONE 3955 02:28:31,640 --> 02:28:32,440 SPEED AND SUPPORT 3956 02:28:32,440 --> 02:28:35,280 PATIENT IDENTIFICATION IS POSSIBLE 3957 02:28:35,280 --> 02:28:37,440 WE CONNECT WITH THE NEXT GENERATION 3958 02:28:37,440 --> 02:28:39,000 SEQUENCE THE PIPE TO BE AGAIN 3959 02:28:39,000 --> 02:28:40,720 ABLE TO IDENTIFY PATIENTS IN A 3960 02:28:40,720 --> 02:28:42,600 BASED ON MORE EQUAL FASHION 3961 02:28:42,600 --> 02:28:44,720 EXISTING SCIENTIFIC PRINCIPLES 3962 02:28:44,720 --> 02:28:46,000 EXPLAINED FURTHER AS WE ARE 3963 02:28:46,000 --> 02:28:49,280 FORWARD THIS WORK. AND THEN YOU CAN 3964 02:28:49,280 --> 02:28:51,240 WE PROSPECTIVELY VALIDATE IT 3965 02:28:51,240 --> 02:28:52,720 WORK TO SEE HOW GOOD WE ARE 3966 02:28:52,720 --> 02:28:58,240 CONDUCT YOUR BUSINESS SAFELY 3967 02:28:58,240 --> 02:29:00,520 FAIRLY AND ACCURATELY 3968 02:29:00,520 --> 02:29:04,600 SELECT CASE. SAFETY AND 3969 02:29:04,600 --> 02:29:06,920 TOXICITY. IT'S REALLY COMING 3970 02:29:06,920 --> 02:29:10,280 IN EFFORTS TO SHARE DATA WE CAN 3971 02:29:10,280 --> 02:29:12,320 GET TO THE WHOLE 3972 02:29:12,320 --> 02:29:13,880 AGREEMENT TEMPLATE BUT ALSO 3973 02:29:13,880 --> 02:29:15,920 DATABASE INFRASTRUCTURE, HOW 3974 02:29:15,920 --> 02:29:17,760 WE MAKE SURE IF WE SEE 3975 02:29:17,760 --> 02:29:20,320 CERTAIN PROPERTIES AROUND A 3976 02:29:20,320 --> 02:29:21,960 INCREDIBLE SPECIAL DESIGN 3977 02:29:21,960 --> 02:29:25,080 MORE TOXICITY, WE MAKE IT 3978 02:29:25,080 --> 02:29:26,320 MORE INFORMATION IS AVAILABLE 3979 02:29:26,320 --> 02:29:28,520 THE GROUP TRIED TO DESIGN ASO 3980 02:29:28,520 --> 02:29:30,720 CAN BENEFIT FROM IT AND DON'T 3981 02:29:30,720 --> 02:29:32,320 DUPLICATE WORK THAT LEADS TO A 3982 02:29:32,320 --> 02:29:35,440 BLIND LANG IN THE PROCESS. 3983 02:29:35,440 --> 02:29:38,240 CLINICAL RESULTS ARE A 3984 02:29:38,240 --> 02:29:41,520 A COMPLICATED WORK AREA FOR US 3985 02:29:41,520 --> 02:29:44,400 FORWARD, A RARE DISEASE 3986 02:29:44,400 --> 02:29:45,480 STRUGGLING WITH CLINICAL RESULTS 3987 02:29:45,480 --> 02:29:47,000 OVERALL SIZE IN LOT 3988 02:29:47,000 --> 02:29:50,440 CASE AND THEN WE TAKE THE RARE 3989 02:29:50,440 --> 02:29:52,720 DISEASES IN ALTER N 1 AREA 3990 02:29:52,720 --> 02:29:54,800 THIS BECAME MORE OF A PROBLEM. US 3991 02:29:54,800 --> 02:29:55,800 I WANT TO BE SURE OF THE RESULTS 3992 02:29:55,800 --> 02:29:57,080 THE SIZE IS RIGHT 3993 02:29:57,080 --> 02:29:58,440 REPRESENTING SECURITY AND 3994 02:29:58,440 --> 02:30:00,800 EFFICIENCY AS FAR AS POSSIBLE 3995 02:30:00,800 --> 02:30:03,560 AND WANT TO WORK TOWARDS IT 3996 02:30:03,560 --> 02:30:05,400 THINGS LIKE MEASUREMENT TOOLS 3997 02:30:05,400 --> 02:30:06,960 DATA SHARING KITS AND PLATFORMS 3998 02:30:06,960 --> 02:30:09,080 SO THAT WE UNDERSTAND AND 3999 02:30:09,080 --> 02:30:10,880 ASSESSMENT PROCESSED ON THE BASIS OF HOW GOOD IT WAS 4000 02:30:10,880 --> 02:30:12,320 VARIOUS ACTIONS FUNCTION AND 4001 02:30:12,320 --> 02:30:13,720 IS THERE ANY ADDITIONAL 4002 02:30:13,720 --> 02:30:15,800 POSSIBLE IMPROVEMENTS 4003 02:30:15,800 --> 02:30:18,120 MANDATORY AND BRING 4004 02:30:18,120 --> 02:30:20,880 NEW ACTIONS MUST BE TAKEN AS IS 4005 02:30:20,880 --> 02:30:22,080 DEVELOPED. INSTITUTIONAL 4006 02:30:22,080 --> 02:30:24,400 IMPLEMENTATION IS WHAT IT'S ABOUT 4007 02:30:24,400 --> 02:30:25,640 SHARE RESOURCES. WHAT IS IT 4008 02:30:25,640 --> 02:30:27,280 THE CHECKLIST AND THE TEMPLATE 4009 02:30:27,280 --> 02:30:28,720 IT MAY BE NEEDED TO BE ABLE 4010 02:30:28,720 --> 02:30:30,240 GET ONE STUDY AND 4011 02:30:30,240 --> 02:30:31,160 RUNNING ON CERTAIN PARTICULARS 4012 02:30:31,160 --> 02:30:34,640 INSTITUTION. THEN FINALLY ETHICS 4013 02:30:34,640 --> 02:30:37,320 AND OPEN AROUND EQUITY 4014 02:30:37,320 --> 02:30:39,720 DISCUSSION. AND THE BEST SUPPORT 4015 02:30:39,720 --> 02:30:41,520 PRACTICE. SO WE WANT TO BE ABLE 4016 02:30:41,520 --> 02:30:45,280 HAVE A FORUM TO IMPROVE ETHICAL 4017 02:30:45,280 --> 02:30:46,800 POSSIBLE PROBLEMS OR PROBLEMS 4018 02:30:46,800 --> 02:30:48,480 APPEARING ON THIS NEW FRONTIER 4019 02:30:48,480 --> 02:30:52,520 MEDICINE. WE WANT TO BE ABLE 4020 02:30:52,520 --> 02:30:55,240 GET FROM THE DISCUSSION 4021 02:30:55,240 --> 02:30:57,080 SOME OF THE BEST RECOMMENDATIONS AROUND 4022 02:30:57,080 --> 02:31:00,080 PRACTICE, AND HOW WE CAN 4023 02:31:00,080 --> 02:31:01,120 EQUITY ETHICAL SUPPORT 4024 02:31:01,120 --> 02:31:02,960 VARIOUS ACCURACY 4025 02:31:02,960 --> 02:31:06,120 FAST DEVELOPING SCIENCE 4026 02:31:06,120 --> 02:31:07,320 CASE, TO BEST SUPPORT ANYTHING 4027 02:31:07,320 --> 02:31:10,120 PATIENTS WHO ARE ON TRIALS OR 4028 02:31:10,120 --> 02:31:13,640 WHICH IS POSSIBLE IN TRIALS IN 4029 02:31:13,640 --> 02:31:14,880 THE FUTURE. BASE ON THIS 4030 02:31:14,880 --> 02:31:16,200 WORK IS COLLABORATION 4031 02:31:16,200 --> 02:31:16,920 DISCUSSION, LEARNING AND DATA 4032 02:31:16,920 --> 02:31:19,720 SHARE. WE WANT TO BE 4033 02:31:19,720 --> 02:31:21,280 COMMITTED TO DISSEMINATION 4034 02:31:21,280 --> 02:31:23,520 THROUGH VARIOUS FORUMS, BECOMING 4035 02:31:23,520 --> 02:31:24,760 CAN ENSURE THAT THERE IS 4036 02:31:24,760 --> 02:31:26,440 OPEN ACCESS TO DATA AND 4037 02:31:26,440 --> 02:31:27,520 LEARNING THAT WE ALL HAVE 4038 02:31:27,520 --> 02:31:32,160 CONTRIBUTE TO. WITH THAT, I 4039 02:31:32,160 --> 02:31:34,120 I WANT TO THANK YOU DAN 4040 02:31:34,120 --> 02:31:37,240 NCATS ORGANIZER FOR THE RARE 4041 02:31:37,240 --> 02:31:38,560 DAY OF DISEASE AND THE MOST MOST OF ALL 4042 02:31:38,560 --> 02:31:39,640 THANK YOU ALL OUR PATIENTS AND 4043 02:31:39,640 --> 02:31:41,840 FAMILIES WITH THAT RARE DISEASE 4044 02:31:41,840 --> 02:31:42,920 BRING MEANING TO THE WORK 4045 02:31:42,920 --> 02:31:46,840 WE DO. AND I THINK A LOT 4046 02:31:46,840 --> 02:31:49,800 US, WHY WE ARE IN A CAREER 4047 02:31:49,800 --> 02:31:52,400 THAT WE, FINALLY N 1C OR 4048 02:31:52,400 --> 02:31:55,560 N OF 1 COLLABORATION IS NOT AN 4049 02:31:55,560 --> 02:31:57,440 EXCLUSIVE CLUB, WE ARE OPEN 4050 02:31:57,440 --> 02:31:58,680 COLLABORATIVE CLUB BUILT IN 4051 02:31:58,680 --> 02:32:00,440 YOUR NAME AND ALL OF YOU 4052 02:32:00,440 --> 02:32:02,600 WELCOME, PLEASE CONTACT US, 4053 02:32:02,600 --> 02:32:10,640 YOUR EMAIL AT INFO@NOF1 4054 02:32:10,640 --> 02:32:14,320 COLLABORATIVE.ORG OR WEBSITE AND 4055 02:32:14,320 --> 02:32:16,560 THERE ARE SUPPORT TO HELP US 4056 02:32:16,560 --> 02:32:18,240 CONTACT YOU AND HELP US 4057 02:32:18,240 --> 02:32:20,040 CONNECT LIKE US, AND US 4058 02:32:20,040 --> 02:32:20,960 INITIATIVE. AND WANT 4059 02:32:20,960 --> 02:32:21,920 COMMUNICATE WIDER 4060 02:32:21,920 --> 02:32:28,520 COMMUNITY. THANK YOU VERY MUCH. 4061 02:32:28,520 --> 02:32:39,320 WWW.N1COLLABORATIVE.ORG. 4062 02:32:39,320 --> 02:32:41,640 >> HEY, GOOD AFTERNOON, THIS IS ME 4063 02:32:41,640 --> 02:32:42,880 PLEASURE TO TALK TODAY AFTER 4064 02:32:42,880 --> 02:32:44,080 WONDERFUL CONVERSATIONS YOU HAVE 4065 02:32:44,080 --> 02:32:47,600 IT'S ALREADY FAR ABOUT N 4066 02:32:47,600 --> 02:32:49,320 FROM 1 PROCESS. I WILL SWIPE A 4067 02:32:49,320 --> 02:32:52,280 A LITTLE TO THINK HOW WE CAN 4068 02:32:52,280 --> 02:32:55,240 DO IT FROM SMALL AND HOW WE CAN 4069 02:32:55,240 --> 02:32:56,600 THINK HOW WE BEST SUPPORT 4070 02:32:56,600 --> 02:32:59,720 OUTCOME MEASURES DR. IT IS STATED 4071 02:32:59,720 --> 02:33:00,640 VERY HARD TO DISCUSS 4072 02:33:00,640 --> 02:33:04,760 UNDERSTAND. WILL TAKE 4073 02:33:04,760 --> 02:33:05,280 LIEU RAKE FRAME 4074 02:33:05,280 --> 02:33:06,520 KO-Dystrophy. THAT'S WHAT I DO 4075 02:33:06,520 --> 02:33:08,720 AND I STUDY LEUKODYSTROPHIES 4076 02:33:08,720 --> 02:33:11,000 WITH CHILDREN'S HOSPITAL 4077 02:33:11,000 --> 02:33:12,880 PHILADELPHIA IN 4078 02:33:12,880 --> 02:33:13,920 LEUKODYSTROPHY CENTER 4079 02:33:13,920 --> 02:33:17,400 ADVANTAGES. WE ACCEPT 4080 02:33:17,400 --> 02:33:18,040 CLINICAL DEVELOPMENT SUPPORT 4081 02:33:18,040 --> 02:33:19,080 TRIALS OF SEVERAL 4082 02:33:19,080 --> 02:33:21,320 FEDERAL AND DIFFERENT 4083 02:33:21,320 --> 02:33:23,720 AS WELL AS NON-FEDERAL INSTITUTIONS 4084 02:33:23,720 --> 02:33:26,280 WE COLLABORATE WITH OUR INDUSTRY 4085 02:33:26,280 --> 02:33:27,560 PARTNER WITHOUT ACCEPTING 4086 02:33:27,560 --> 02:33:30,440 PERSONAL COMPENSATION. me too 4087 02:33:30,440 --> 02:33:32,120 I WANT TO EXPLAIN WHAT I THINK 4088 02:33:32,120 --> 02:33:33,720 LIKE DR. ALREADY THE DEAR 4089 02:33:33,720 --> 02:33:36,080 AND OTHERS HAVE SAID 4090 02:33:36,080 --> 02:33:37,720 NOTE, THIS IS VERY IMPORTANT 4091 02:33:37,720 --> 02:33:39,520 IN THIS DIFFICULT AREA 4092 02:33:39,520 --> 02:33:41,080 FORWARD TO THINK HOW WE CAN 4093 02:33:41,080 --> 02:33:42,920 BEST OPTIMIZATION OF OUR PROCEDURES AND 4094 02:33:42,920 --> 02:33:43,920 OFTEN THAT MEANS THINKING 4095 02:33:43,920 --> 02:33:45,600 TOGETHER AS A GROUP. IN MY CASE 4096 02:33:45,600 --> 02:33:48,240 THAT INCLUDES CLINICAL 4097 02:33:48,240 --> 02:33:50,640 ADVISORY BOARD FOR A SPECIAL ONE 4098 02:33:50,640 --> 02:33:53,640 LEUKODYSTROPHY IS CALLED HABC WITH 4099 02:33:53,640 --> 02:34:00,360 Dr. LORI JEN JUSTINE SALTS AND 4100 02:34:00,360 --> 02:34:03,360 MARVO KNAAP AND BEAUTIFUL 4101 02:34:03,360 --> 02:34:06,160 SCIENTIST OF OUR TIME, DR. SASE 4102 02:34:06,160 --> 02:34:10,320 AND DR. PATEL. I'LL TALK ABOUT 4103 02:34:10,320 --> 02:34:12,080 HOW WE APPROACHED CLINICAL TRIALS 4104 02:34:12,080 --> 02:34:13,680 PREPAREDNESS FOR LEUKODYSTROPHIES. 4105 02:34:13,680 --> 02:34:15,000 WE NEED TO FILL THIS SPACE 4106 02:34:15,000 --> 02:34:17,120 THE DISEASE IS RARE AND NEEDS BETTER 4107 02:34:17,120 --> 02:34:19,640 MEASURES OF RESULTS, IN ORDER TO BE 4108 02:34:19,640 --> 02:34:20,320 READY FOR CLINICAL TRIALS 4109 02:34:20,320 --> 02:34:22,040 WHICH APPEARS BOTH IN 4110 02:34:22,040 --> 02:34:23,640 ANTISENSE THERAPY AND OTHERS 4111 02:34:23,640 --> 02:34:25,120 APPROACH AND WE ARE LUCKY 4112 02:34:25,120 --> 02:34:26,440 ENOUGH TO PARTNER WITH AND 4113 02:34:26,440 --> 02:34:28,720 RECEIVE FUNDS FROM RDCRN 4114 02:34:28,720 --> 02:34:31,040 NIH-FUNDED RARE DISEASES 4115 02:34:31,040 --> 02:34:35,320 CONSORTIUM AND FUNDS 4116 02:34:35,320 --> 02:34:36,600 GLOBAL CLINICAL TRIALS NETWORK A 4117 02:34:36,600 --> 02:34:39,080 US-BASED CONSORTIUM OF 8 CENTERS 4118 02:34:39,080 --> 02:34:41,520 FOCUS ON LEUKODYSTROPHY. 4119 02:34:41,520 --> 02:34:42,520 SPECIFICALLY FOR THIS CONVERSATION TO ME 4120 02:34:42,520 --> 02:34:44,280 WILL SHOW DISRUPTION 4121 02:34:44,280 --> 02:34:53,960 CALLED AHBC, OR LEUKODYSTROPHY. 4122 02:34:53,960 --> 02:34:55,080 MANY YEARS AGO WE IDENTIFIED 4123 02:34:55,080 --> 02:34:59,240 CAUSES OF INITIAL DISORDERS 4124 02:34:59,240 --> 02:35:01,560 2000s, WITH THE HYPOMILIA NATION 4125 02:35:01,560 --> 02:35:03,600 WITH ATROPHY AT THE BASE 4126 02:35:03,600 --> 02:35:06,120 GANGLIA AND CEREBELUM. AND US 4127 02:35:06,120 --> 02:35:07,360 BE AWARE THIS CHILD IS FOLLOWING 4128 02:35:07,360 --> 02:35:08,120 WHAT WE THINK 4129 02:35:08,120 --> 02:35:10,040 THE COURSE HAS EXPECTABLES 4130 02:35:10,040 --> 02:35:11,720 EARLY EARLY NORMAL MOTORCYCLE 4131 02:35:11,720 --> 02:35:13,320 MILESTONE AND THEN FOLLOWED BY 4132 02:35:13,320 --> 02:35:15,760 LOST MOTORCYCLE MILESTONES AND 4133 02:35:15,760 --> 02:35:19,320 SPEECH CAUSED BY DYSTONIA AND 4134 02:35:19,320 --> 02:35:20,880 DYSPLASTICITY. DURING THAT TIME 4135 02:35:20,880 --> 02:35:23,720 SAME GENE IDENTIFIED 4136 02:35:23,720 --> 02:35:25,320 IT COULD CAUSE DIFFERENTLY 4137 02:35:25,320 --> 02:35:28,120 MUTATIONS CAN CAUSE ADULTS 4138 02:35:28,120 --> 02:35:31,640 EARLY DYSTONIA, EARLY 4139 02:35:31,640 --> 02:35:34,480 INFANT ENCHEPHALOPATHY WITH 4140 02:35:34,480 --> 02:35:35,560 CRUELTY AND DELAYED DEVELOPMENT 4141 02:35:35,560 --> 02:35:38,560 AND LIGHTER SYMPTOMS LIKE 4142 02:35:38,560 --> 02:35:40,600 PARAPLEGIA. WE ALSO ACKNOWLEDGE 4143 02:35:40,600 --> 02:35:44,160 AND SEE THE CAUSE 4144 02:35:44,160 --> 02:35:47,040 OVERALL TUBB LEUKODYSTROPHIES 4A 4145 02:35:47,040 --> 02:35:49,920 IS THE SECOND MORE COMMON 4146 02:35:49,920 --> 02:35:52,400 TEMPORARY LEUKODYSTRO DYSTROPHY A 4147 02:35:52,400 --> 02:35:54,560 RARE DISEASES WE FACE A 4148 02:35:54,560 --> 02:35:56,240 UNMET THE REAL NEED TO HAVE IT 4149 02:35:56,240 --> 02:35:59,200 PATIENT POPULATION. SO THAT'S IT 4150 02:35:59,200 --> 02:36:02,080 WHO HAS NOT HEARD OF TUBB 4A, IT 4151 02:36:02,080 --> 02:36:03,840 IT WAS ONE OF LYNN'S NUMBER OF TUBE 4152 02:36:03,840 --> 02:36:06,280 RELATED PROTEINS, DIMERIZED 4153 02:36:06,280 --> 02:36:08,160 WITH LYNN'S ALPHA TUBE AND 4154 02:36:08,160 --> 02:36:10,320 AGAIN EACH CELL PRODUCES A SUM 4155 02:36:10,320 --> 02:36:11,760 A DIFFERENT TYPE, ASSUMED 4156 02:36:11,760 --> 02:36:13,720 THAT MUTATIONS ARE INVOLVED 4157 02:36:13,720 --> 02:36:15,000 CAUSES PROBLEMS FOR BOTH 4158 02:36:15,000 --> 02:36:16,680 ALPHA AND BETA DIMERIZATION 4159 02:36:16,680 --> 02:36:17,920 LYNN AND TUBE SUB UNIT 4160 02:36:17,920 --> 02:36:19,920 ASSEMBLY AND DISASSEMBLY 4161 02:36:19,920 --> 02:36:22,720 THE DIMER BECOME MICROTUBULES. 4162 02:36:22,720 --> 02:36:26,480 THEY ARE ESSENTIAL FOR CELLS 4163 02:36:26,480 --> 02:36:27,920 SECOND TRAFFIC CAPABILITY 4164 02:36:27,920 --> 02:36:29,440 INFORMATION ON THE ENTIRE CELL 4165 02:36:29,440 --> 02:36:31,680 AND TO BUILD THE EXTENSION 4166 02:36:31,680 --> 02:36:32,760 CELLS MAY BE NEEDED AND YOU CAN 4167 02:36:32,760 --> 02:36:34,360 IMAGINE THAT'S POSSIBLE 4168 02:36:34,360 --> 02:36:35,240 PARTICULARLY IMPORTANT FOR THE BRAIN 4169 02:36:35,240 --> 02:36:41,320 CELL. WE ARE ABLE TO BE IN BETWEEN 4170 02:36:41,320 --> 02:36:43,040 OTHER PEOPLE TO MODELING THIS DISEASE 4171 02:36:43,040 --> 02:36:45,040 MICE AND WE CAN SHOW 4172 02:36:45,040 --> 02:36:46,800 THIS MOUSE HAS FEATURES 4173 02:36:46,800 --> 02:36:49,080 THE SAME DISEASE 4174 02:36:49,080 --> 02:36:50,920 PEOPLE ARE THE SAME, THEY HAVE ATROPHY 4175 02:36:50,920 --> 02:36:53,080 FROM THE CEREBELUM BELOW 4176 02:36:53,080 --> 02:36:54,720 SLIDE RIGHT AND GREEN WITH 4177 02:36:54,720 --> 02:36:56,120 THE RED MOUSE BECOMES THAT MOUSE 4178 02:36:56,120 --> 02:36:58,720 HIT ON TUBB 4A AND DECLINED 4179 02:36:58,720 --> 02:37:02,920 MYELIN AS WE SEE IN HUMANS 4180 02:37:02,920 --> 02:37:07,320 INFLUENCED BY TAUPE RACING 4181 02:37:07,320 --> 02:37:12,280 LEUKODYSTRO AND RATS DYSTROPHY 4182 02:37:12,280 --> 02:37:14,280 HAS IMPROVED SURVIVAL. WE HAVE 4183 02:37:14,280 --> 02:37:18,640 ALSO ABLE TO SHOW THAT 4184 02:37:18,640 --> 02:37:19,640 MAY CHANGE 4185 02:37:19,640 --> 02:37:21,960 RESULTS FROM RATS AND TO 4186 02:37:21,960 --> 02:37:23,520 REALLY TREAT THEM WITH 4187 02:37:23,520 --> 02:37:25,640 ANTICENSE. SO WE CAN 4188 02:37:25,640 --> 02:37:27,320 SHOW THAT WE CAN REDUCE 4189 02:37:27,320 --> 02:37:29,520 MOTOR DISTURBANCE, REDUCED 4190 02:37:29,520 --> 02:37:32,120 SURVIVAL, LESS OTHERS 4191 02:37:32,120 --> 02:37:33,760 RELATED FEATURES LIKE 4192 02:37:33,760 --> 02:37:34,400 PROVIDING AND FIXING OUR THINGS 4193 02:37:34,400 --> 02:37:36,240 CAN BE SEEN UNDER A MICROSCOPE LIKE 4194 02:37:36,240 --> 02:37:39,880 IMPROVEMENT OF THE NATION'S MILY AND CHANGE 4195 02:37:39,880 --> 02:37:43,120 CEREBELLUM AFRO PHI. SO THAT'S IT 4196 02:37:43,120 --> 02:37:45,320 CAUSES US -- ATROPHY. IT 4197 02:37:45,320 --> 02:37:47,320 CAUSES US TO THINK ABOUT HOW 4198 02:37:47,320 --> 02:37:48,480 DEVELOP CLINICAL TRIALS IN THIS CASE 4199 02:37:48,480 --> 02:37:50,400 DISRUPTION. AND KNOWING THAT YOU ARE 4200 02:37:50,400 --> 02:37:52,000 POTENTIAL CAN DESIGN AN 4201 02:37:52,000 --> 02:37:52,920 ANTISENSE AND KNOWING THAT YOU ARE 4202 02:37:52,920 --> 02:37:56,080 POTENTIAL MAY BE REDUCED 4203 02:37:56,080 --> 02:37:58,880 THE BURDEN OF DISEASE FOR THE PATIENT IS 4204 02:37:58,880 --> 02:38:00,840 OBVIOUSLY A BIG MOTIVATION 4205 02:38:00,840 --> 02:38:02,440 FACTORS FOR UNDERSTANDING NATURE 4206 02:38:02,440 --> 02:38:03,680 HISTORY ENOUGH PROVES THAT 4207 02:38:03,680 --> 02:38:06,400 IT ACTUALLY CHANGES THE PURPOSE 4208 02:38:06,400 --> 02:38:10,000 DISEASES, AND THEIR RESPECTIVES 4209 02:38:10,000 --> 02:38:12,120 DISRUPTION HAS ITS OWN TIME AND 4210 02:38:12,120 --> 02:38:13,800 OWN SPEED AND SOME OF THE DISRUPTIONS 4211 02:38:13,800 --> 02:38:16,000 IT WAS THE BEGINNING OF A SEVERE ANDRAFI, PROBABLY 4212 02:38:16,000 --> 02:38:19,920 IT'S EASIER TO SHOW IF THERE IS 4213 02:38:19,920 --> 02:38:21,920 IMPROVEMENT BECAUSE YOU CAN ENTER 4214 02:38:21,920 --> 02:38:22,720 SHOW TIME IS SHORT 4215 02:38:22,720 --> 02:38:25,160 REPAIR. OTHER DISRUPTIONS 4216 02:38:25,160 --> 02:38:27,520 LIKE HBC WHO FOLLOW FOR LONGER 4217 02:38:27,520 --> 02:38:28,720 A COMPLETE PERIOD OF TIME PRIOR 4218 02:38:28,720 --> 02:38:30,240 YOU EXPERIENCE SIGNIFICANT LOSSES 4219 02:38:30,240 --> 02:38:32,480 MOTOR FUNCTION MAY BE CORRECT 4220 02:38:32,480 --> 02:38:34,600 IT'S MORE HARD ESPECIALLY IF YOU 4221 02:38:34,600 --> 02:38:37,360 SHOULD FURTHER NATURAL DESIGN 4222 02:38:37,360 --> 02:38:38,520 THE HISTORY OF U IN THAT WILL END 4223 02:38:38,520 --> 02:38:40,480 YEARS OF TIME ENABLE YOU 4224 02:38:40,480 --> 02:38:42,680 COLLECT ENOUGH DATA TO SHOW THAT 4225 02:38:42,680 --> 02:38:45,320 SPEED OF CHANGE. SO TEMPORARY 4226 02:38:45,320 --> 02:38:46,680 THAT'S THE GOLD STANDARD APPROACH 4227 02:38:46,680 --> 02:38:48,240 USUALLY USED IN PREPARATIONS 4228 02:38:48,240 --> 02:38:48,960 CLINICAL TRIALS AND HAVE BEEN CONDUCTED 4229 02:38:48,960 --> 02:38:51,320 USED IN THE PAST DECADE CARRYING 4230 02:38:51,320 --> 02:38:53,000 PATIENTS REGULARLY 4231 02:38:53,000 --> 02:38:54,320 EVERY SIX MONTHS UNTIL YEAR AND 4232 02:38:54,320 --> 02:38:55,480 MEASURE THE RESULTS YOU WANT 4233 02:38:55,480 --> 02:38:57,680 TO CAPTURE SUCH MOTOR FUNCTIONS, 4234 02:38:57,680 --> 02:38:59,680 TRULY THAT MAY TAKE A DECADE 4235 02:38:59,680 --> 02:39:03,640 TO FULLY UNDERSTAND FOR HABC 4236 02:39:03,640 --> 02:39:04,960 WHICH IS OBVIOUSLY NOT 4237 02:39:04,960 --> 02:39:07,080 ACCEPTABLE WHEN YOU HAVE A 4238 02:39:07,080 --> 02:39:08,200 THERAPEUTIC INTERVENTION AGAINST 4239 02:39:08,200 --> 02:39:11,400 DO IT FASTER. SO WE 4240 02:39:11,400 --> 02:39:12,720 NATURAL HISTORY APPROACH 4241 02:39:12,720 --> 02:39:14,200 LEARN IN A DIFFERENT WAY FROM 4242 02:39:14,200 --> 02:39:15,440 THE GOLD STANDARD AND THINK ABOUT 4243 02:39:15,440 --> 02:39:19,120 A CROSS-SECTIONAL APPROACH. SO 4244 02:39:19,120 --> 02:39:20,760 WE'RE STARTING TO SEE USAGE 4245 02:39:20,760 --> 02:39:21,560 MEDICAL RECORDS AS A SOURCE 4246 02:39:21,560 --> 02:39:23,760 DOCUMENTS TO VERIFY THE EVENT 4247 02:39:23,760 --> 02:39:25,240 INCLUDES MOTOR STARTING 4248 02:39:25,240 --> 02:39:27,520 SYMPTOMS AND DEGREES AND VIOLENCE 4249 02:39:27,520 --> 02:39:28,960 MOTOR SYMPTOMS. WE TOO 4250 02:39:28,960 --> 02:39:30,160 START THINKING 4251 02:39:30,160 --> 02:39:31,520 COLLECTING FUNCTIONAL MEASURES 4252 02:39:31,520 --> 02:39:32,400 IN MANY INDIVIDUALS 4253 02:39:32,400 --> 02:39:35,120 CREATE BETTER LANDSCAPES 4254 02:39:35,120 --> 02:39:37,320 DISEASE TRACKS IF NOT IN ONE 4255 02:39:37,320 --> 02:39:38,520 SAME PATIENT. WE HAVE 4256 02:39:38,520 --> 02:39:40,400 FOCUS ON PATIENT COLLECTION 4257 02:39:40,400 --> 02:39:41,640 RESULTS AND 4258 02:39:41,640 --> 02:39:44,520 IN THE FUTURE WE HOPE TO OVERCOME 4259 02:39:44,520 --> 02:39:46,200 HOW TO COLLECT NOVELS 4260 02:39:46,200 --> 02:39:47,520 FUNCTIONAL ACTIONS LIKE 4261 02:39:47,520 --> 02:39:49,320 REMOTE ASSESSMENT FOR USE 4262 02:39:49,320 --> 02:39:51,400 DEVICE. TO REDUCE THE LOAD 4263 02:39:51,400 --> 02:39:53,800 FAMILIES MUST TRAVEL TO 4264 02:39:53,800 --> 02:39:57,120 NATURAL HISTORY SITE. SO 4265 02:39:57,120 --> 02:39:58,360 WHAT IS IMPORTANT, WHEN WE START 4266 02:39:58,360 --> 02:40:01,200 ASK THE FAMILY WHAT IT IS 4267 02:40:01,200 --> 02:40:02,280 THE BIGGEST TARGET IS THE MOST IMPORTANT 4268 02:40:02,280 --> 02:40:03,280 YOU WILL SEE SOME OF THE SYMPTOMS 4269 02:40:03,280 --> 02:40:04,920 THE MOTOR SYMPTOMS ARE 4270 02:40:04,920 --> 02:40:07,920 THE MOST INFLUENCED IN US 4271 02:40:07,920 --> 02:40:11,120 SUBJECTS WITH HABC. OTHER THINGS 4272 02:40:11,120 --> 02:40:12,120 ALSO IMPORTANT IN 4273 02:40:12,120 --> 02:40:13,760 DAILY LIFE COMMUNICATIONS 4274 02:40:13,760 --> 02:40:15,480 SKILLS BUT MOTORCYCLE SKILLS ARE EMERGING 4275 02:40:15,480 --> 02:40:17,800 AS ONE OF THE MOST COMMON AND 4276 02:40:17,800 --> 02:40:21,440 FREQUENTLY IDENTIFIED DEFICITS 4277 02:40:21,440 --> 02:40:25,680 IN THIS KISS ORDER. CHAOS. 4278 02:40:25,680 --> 02:40:28,720 UNFORTUNATELY WHEN WE REGISTERED 4279 02:40:28,720 --> 02:40:30,080 HABC STANDARD MOTORCYCLE ASSESSMENT 4280 02:40:30,080 --> 02:40:31,400 WHO USE SUCH ABUSE 4281 02:40:31,400 --> 02:40:32,240 CLINICAL SETTINGS AND RESEARCH 4282 02:40:32,240 --> 02:40:34,040 SETTING IN MANY PLACES 4283 02:40:34,040 --> 02:40:36,600 DEVELOPED FOR SUCH THINGS 4284 02:40:36,600 --> 02:40:38,400 CEREBRAL PALSY, WE ARE AWARE OF THAT 4285 02:40:38,400 --> 02:40:40,640 MANY PATIENTS HAVE FLOORS 4286 02:40:40,640 --> 02:40:42,400 EFFECT. THIS IS A SO-CALLED TEST 4287 02:40:42,400 --> 02:40:46,160 GFM 8, GROSS MOTOR FUNCTION 4288 02:40:46,160 --> 02:40:49,160 TEST 88 BECAUSE THERE ARE 88 ITEMS 4289 02:40:49,160 --> 02:40:53,120 TESTED. A IS WHAT IS RELATED TO 4290 02:40:53,120 --> 02:40:54,520 LIES AND DIMENSION B ARE 4291 02:40:54,520 --> 02:40:56,240 MORE RELATED TO SAT 4292 02:40:56,240 --> 02:40:58,120 AND ROLLING AND THEN DIMENSION D 4293 02:40:58,120 --> 02:40:59,840 AND E RELATED TO AMBULATORY 4294 02:40:59,840 --> 02:41:02,080 SKILLS. YOU CAN SEE IT IMMEDIATELY 4295 02:41:02,080 --> 02:41:03,720 AS THINGS GET HARDER AND FLOOR 4296 02:41:03,720 --> 02:41:05,760 MOBILITY, MANY PATIENTS 4297 02:41:05,760 --> 02:41:08,120 HAVE -- YOU SEE THE PATIENT 4298 02:41:08,120 --> 02:41:09,360 JOIN HERE BECAUSE THEY EXIST 4299 02:41:09,360 --> 02:41:10,920 NO LOCKER IS CAPABLE OF PERFORMING THE TEST. SO 4300 02:41:10,920 --> 02:41:13,320 -- LONGER ABLE TO PERFORM TESTS 4301 02:41:13,320 --> 02:41:14,800 SO IT'S A PROBLEM TO USE A 4302 02:41:14,800 --> 02:41:17,240 A TOOL THAT CAN MEASURE A FUNCTION 4303 02:41:17,240 --> 02:41:18,720 BECAUSE THE PATIENT IS BELOW LEVEL 4304 02:41:18,720 --> 02:41:19,720 THE FUNCTION OF THE TOOL AND 4305 02:41:19,720 --> 02:41:23,640 PREVIOUSLY DEVELOPED MOTORCYCLE EQUIPMENT 4306 02:41:23,640 --> 02:41:25,480 DO NOT CAPTURE THE MOTORCYCLE COMPLETELY 4307 02:41:25,480 --> 02:41:27,520 FUNCTION. AND YOU CAN'T JUST 4308 02:41:27,520 --> 02:41:29,240 TAKE A MOTORCYCLE EQUIPMENT DEVELOPED FOR 4309 02:41:29,240 --> 02:41:30,920 A BABY THAT MAY NOT HAVE 4310 02:41:30,920 --> 02:41:33,280 MOTOR FUNCTIONS OF OLDER CHILDREN 4311 02:41:33,280 --> 02:41:35,920 AND USE THE ONE FOR THE NOSE 4312 02:41:35,920 --> 02:41:37,720 SIZE BASED ON SIZE AND 4313 02:41:37,720 --> 02:41:39,160 HOW MUCH CAN YOU MANIPULATE IT 4314 02:41:39,160 --> 02:41:42,080 BABY SO THERE IS NO BIG SPACE 4315 02:41:42,080 --> 02:41:43,160 FOR INDIVIDUAL PATIENTS AT 4316 02:41:43,160 --> 02:41:44,280 THAT LEVEL OF FUNCTIONING. SO WE 4317 02:41:44,280 --> 02:41:45,520 START RETHINKING THINGS A 4318 02:41:45,520 --> 02:41:48,520 A LITTLE. AND ASSUME WE HAVE 4319 02:41:48,520 --> 02:41:50,200 TO UNDERSTAND WHAT A MILESTONE IS 4320 02:41:50,200 --> 02:41:52,280 PATIENTS WITH THIS DISORDER 4321 02:41:52,280 --> 02:41:53,560 ACHIEVED BEFORE WE THINK 4322 02:41:53,560 --> 02:41:54,720 ABOUT THE TOOLS WE MAY WANT 4323 02:41:54,720 --> 02:41:59,320 TO USE, AND WE SEE AS WE SEE 4324 02:41:59,320 --> 02:42:00,880 IN CASE, IF YOU LOOK AT SORT 4325 02:42:00,880 --> 02:42:02,840 PATIENT DOES NOT REACH A 4326 02:42:02,840 --> 02:42:03,920 MILESTONE, REACHING A MILESTONE 4327 02:42:03,920 --> 02:42:05,800 AND THEN ACHIEVE BUT LOSE 4328 02:42:05,800 --> 02:42:07,720 A MILESTONE THAT WE SEE AS IT IS 4329 02:42:07,720 --> 02:42:10,520 HOPE BASED ON THE RESULTS 4330 02:42:10,520 --> 02:42:11,920 FROM MANY OF OUR PATIENTS 4331 02:42:11,920 --> 02:42:16,120 GOOD DOESN'T REACH MORE 4332 02:42:16,120 --> 02:42:17,840 COMPLEX MOTORCYCLE SKILLS LIKE 4333 02:42:17,840 --> 02:42:20,600 GO WELL OR LOSE IT 4334 02:42:20,600 --> 02:42:22,960 THAT BY AGE TRY TO MEASURE 4335 02:42:22,960 --> 02:42:25,160 CHILDREN AND CAPTURE THEM IN 4336 02:42:25,160 --> 02:42:26,640 THREE TO FOUR YEARS WHERE PEOPLE 4337 02:42:26,640 --> 02:42:28,520 BEGINNING TO DEVELOP SYMPTOMS 4338 02:42:28,520 --> 02:42:30,720 WE WILL NOT BE ABLE O 4339 02:42:30,720 --> 02:42:33,560 MEASURING BASIC TESTS 4340 02:42:33,560 --> 02:42:38,320 BASED ON A SIGNIFICANTLY GOOD MOTORCYCLE 4341 02:42:38,320 --> 02:42:41,320 FUNCTION. WE ALSO STARTED 4342 02:42:41,320 --> 02:42:42,000 THINK IN GROUPS 4343 02:42:42,000 --> 02:42:43,120 PATIENTS BECAUSE WE SEE THEM 4344 02:42:43,120 --> 02:42:45,880 THERE IS AN INITIAL TEST 4345 02:42:45,880 --> 02:42:47,520 SOME ARE ABLE TO FUNCTION BUT TOO 4346 02:42:47,520 --> 02:42:48,720 THINK ABOUT DIFFERENT GROUPS 4347 02:42:48,720 --> 02:42:49,920 DISEASE. REMEMBER WHEN WE 4348 02:42:49,920 --> 02:42:51,240 FIRST IDEA IF OUR MUTATION ID 4349 02:42:51,240 --> 02:42:55,360 HAVE IDENTIFIED A COMMON ONE 4350 02:42:55,360 --> 02:43:00,200 MUTATION THAT REPLACES 249N 4351 02:43:00,200 --> 02:43:02,560 D 249D AND WE KNOW THAT 4352 02:43:02,560 --> 02:43:04,920 PATIENTS ARE GENERAL RECRUITMENTS 4353 02:43:04,920 --> 02:43:06,280 MUTATIONS BUT THERE ARE OTHERS 4354 02:43:06,280 --> 02:43:08,040 MUTATION. AND SOME PATIENTS 4355 02:43:08,040 --> 02:43:10,280 MUTATIONS ARE VERY WELL AND FEW 4356 02:43:10,280 --> 02:43:11,560 PATIENTS WITH MUTATIONS HAVE 4357 02:43:11,560 --> 02:43:13,680 SIGNIFICANT MOTOR DYSFUNCTION 4358 02:43:13,680 --> 02:43:14,280 AND WE REMEMBER TO BE ABLE 4359 02:43:14,280 --> 02:43:16,280 SHOW THAT - WE ARE CAPABLE 4360 02:43:16,280 --> 02:43:18,240 TO SHOW MORE THAN ONE 4361 02:43:18,240 --> 02:43:19,040 GROUPS IN THIS POPULATION 4362 02:43:19,040 --> 02:43:21,360 THE PATIENT WAS WITH A MUTATION 4363 02:43:21,360 --> 02:43:24,600 IT'S POSSIBLY SEEN AT THE BEGINNING 4364 02:43:24,600 --> 02:43:26,520 DO WELL AND BE THE EQUAL 4365 02:43:26,520 --> 02:43:27,520 PATIENTS WITHOUT THAT MUTATION 4366 02:43:27,520 --> 02:43:29,720 BUT WHO HAS THEM LATER 4367 02:43:29,720 --> 02:43:30,840 PRESENTATION MORE THAN 12 MONTHS AND 4368 02:43:30,840 --> 02:43:32,320 OTHERWISE PATIENT GROUP 4369 02:43:32,320 --> 02:43:34,200 SERVED EARLY FOR LESS THAN 12 4370 02:43:34,200 --> 02:43:36,000 MONTHS WITH THAT MUTATION 4371 02:43:36,000 --> 02:43:39,240 VERY OFTEN FAILED TO ACHIEVE 4372 02:43:39,240 --> 02:43:41,120 USEFUL MILESTONE. SO THIS IS IT 4373 02:43:41,120 --> 02:43:43,120 THIS IS ANOTHER WAY OF REPRESENTING IT 4374 02:43:43,120 --> 02:43:44,960 THE SAME INFORMATION, IF YOU TAKE 4375 02:43:44,960 --> 02:43:48,360 ALL YOUR DIFFERENT GENOTYPES 4376 02:43:48,360 --> 02:43:49,960 LOOK AT THE WARM COLORS WHEN 4377 02:43:49,960 --> 02:43:53,120 MORE THAN 90% OF PATIENTS STARTED -- 4378 02:43:53,120 --> 02:43:54,920 75 OR 90% OF PATIENTS ACHIEVE THAT 4379 02:43:54,920 --> 02:43:55,960 MILESTONE AND YOU CAN SEE IT 4380 02:43:55,960 --> 02:43:59,120 AS MORE MILESTONES 4381 02:43:59,120 --> 02:44:02,200 DIFFICULT, UP SIX STEPS, 4382 02:44:02,200 --> 02:44:03,120 THERE IS A SMALLER PERCENTAGE 4383 02:44:03,120 --> 02:44:05,520 PATIENTS WHO ACHIEVE IT 4384 02:44:05,520 --> 02:44:06,360 MILESTONE BUT THERE IS IF YOU ARE 4385 02:44:06,360 --> 02:44:12,400 ABLE TO DESTROY IT 4386 02:44:12,400 --> 02:44:14,080 GROUP, PATIENTS WITH EARLY 4387 02:44:14,080 --> 02:44:16,240 INITIALLY WAS INCONSISTENT 4388 02:44:16,240 --> 02:44:18,280 ACHIEVING SKILLS LIKE ROLLING 4389 02:44:18,280 --> 02:44:20,960 MORE THAN THOSE PRESENTATIONS 4390 02:44:20,960 --> 02:44:26,600 THEN AND BETTER WITH MORE 4391 02:44:26,600 --> 02:44:28,520 CONSISTENT EARNINGS 4392 02:44:28,520 --> 02:44:33,920 complicated historical milestones. WE KNOW 4393 02:44:33,920 --> 02:44:35,280 IN EXISTING PATIENTS 4394 02:44:35,280 --> 02:44:36,320 LIGHTER, YOU HAVE A PERCENTAGE 4395 02:44:36,320 --> 02:44:39,320 MILESTONE ACHIEVED BY 4396 02:44:39,320 --> 02:44:40,360 INDIVIDUAL, YOU SEE THE PATIENT 4397 02:44:40,360 --> 02:44:42,080 MORE LIKELY TO ACHIEVE 4398 02:44:42,080 --> 02:44:43,920 MILESTONE, IN NON--- 4399 02:44:43,920 --> 02:44:45,440 BE PATIENT WITHOUT THE USUAL YOU 4400 02:44:45,440 --> 02:44:46,600 THERE ARE EVERYWHERE BUT IF YOU 4401 02:44:46,600 --> 02:44:50,680 SEE LIGHTER PATIENTS, 4402 02:44:50,680 --> 02:44:52,720 UP HERE, I HOPE YOU CAN SEE ME 4403 02:44:52,720 --> 02:44:54,800 THE CURSOR WILL LOOK AT WHAT IS PRESENTED 4404 02:44:54,800 --> 02:44:57,600 MILESTONE MISSING, D 24N 4405 02:44:57,600 --> 02:44:59,520 PATIENTS LIKELY SIGNIFICANTLY 4406 02:44:59,520 --> 02:45:01,120 LOST THAT MILESTONE. SO 4407 02:45:01,120 --> 02:45:02,440 OVERALL THAT GIVES THEIR TASTE 4408 02:45:02,440 --> 02:45:04,960 THERE ARE THREE MAIN PHENOTYPES OF LIGHT 4409 02:45:04,960 --> 02:45:06,680 MODERATE AND SEVERE, GROUP 4410 02:45:06,680 --> 02:45:08,720 WHICH WE WILL NOT GET 4411 02:45:08,720 --> 02:45:09,920 IMPORTANT MILESTONES, LIKE 4412 02:45:09,920 --> 02:45:10,920 STAY HERE, THAT GROUP 4413 02:45:10,920 --> 02:45:12,880 WE WILL GET A MILESTONE, 4414 02:45:12,880 --> 02:45:14,920 BUT THEN WE WILL LOSE 4415 02:45:14,920 --> 02:45:17,000 WHICH PATIENTS ARE MORE 4416 02:45:17,000 --> 02:45:19,320 VERY REPRESENTED AND THEN A 4417 02:45:19,320 --> 02:45:21,000 THE THIRD GROUP WHERE THE SYMPTOMS ARE 4418 02:45:21,000 --> 02:45:25,240 OVERALL LIGHTWEIGHT. SO ONCE WE START 4419 02:45:25,240 --> 02:45:27,480 TO THINK ABOUT OTHER TYPES 4420 02:45:27,480 --> 02:45:28,480 MEASURES WE CAN USE 4421 02:45:28,480 --> 02:45:30,480 SIMPLER AND EASIER TO ACCEPT 4422 02:45:30,480 --> 02:45:32,880 WE ARE FOR PATIENT STRATIFICATION AND 4423 02:45:32,880 --> 02:45:35,480 FOLLOW OUR OTHER RESULTS 4424 02:45:35,480 --> 02:45:38,040 BORROWING FROM OTHERS 4425 02:45:38,040 --> 02:45:38,520 LEUKODISAVOW PHI MEDICAL 4426 02:45:38,520 --> 02:45:41,760 DYSTROPHY THAT USES THE CORE 4427 02:45:41,760 --> 02:45:46,440 RESULT MEASURE, WE BORROW A 6 4428 02:45:46,440 --> 02:45:49,400 THAT MOTORCYCLE'S RESULTING POINT 4429 02:45:49,400 --> 02:45:51,880 INCLUDING ZERO WALKING TOGETHER 4430 02:45:51,880 --> 02:45:54,320 NORMAL FOR AGE, ONE CHILD 4431 02:45:54,320 --> 02:45:55,720 IT RUNS BUT THE QUALITY DECLINES 4432 02:45:55,720 --> 02:45:57,800 PERFORMANCE FOR AGES, TWO, CHILDREN 4433 02:45:57,800 --> 02:45:59,240 WHO NEEDS AN ASSISTANT DEVICE 4434 02:45:59,240 --> 02:46:01,200 BECAUSE THEY CAN'T WALK ANYMORE 4435 02:46:01,200 --> 02:46:03,400 FROM FIVE STEPS WITHOUT AID, AND 4436 02:46:03,400 --> 02:46:05,440 THEN THREE AND FOUR PATIENTS WHO 4437 02:46:05,440 --> 02:46:07,520 MAY HAVE MOBILITY THROUGH 4438 02:46:07,520 --> 02:46:10,520 CRAFTING OR ROLLING AND/OR MAYING 4439 02:46:10,520 --> 02:46:12,880 ABLE -- AND FIVE PATIENTS 4440 02:46:12,880 --> 02:46:14,400 WHICH ONLY MAINTAINS HEAD CONTROL 4441 02:46:14,400 --> 02:46:15,800 AND SIX PATIENTS WERE ALL MISSING 4442 02:46:15,800 --> 02:46:19,040 MOBILITY INCLUDES HEAD CONTROLS. 4443 02:46:19,040 --> 02:46:20,960 SOFT YOU CAN SEE IT INSIDE 4444 02:46:20,960 --> 02:46:23,200 PATIENTS EVEN WHO 4445 02:46:23,200 --> 02:46:25,000 THE LIGHTEST, THE ONE THAT STARTS CLOSER 4446 02:46:25,000 --> 02:46:28,120 NORMAL OR NORMAL MOTOR FUNCTION, 4447 02:46:28,120 --> 02:46:28,760 THERE ARE OFTEN ENDING DEVELOPMENTS 4448 02:46:28,760 --> 02:46:30,920 TIME IS SOMETHING MEASURABLE 4449 02:46:30,920 --> 02:46:32,400 AMOUNT OF CHANGE, IN 4450 02:46:32,400 --> 02:46:35,120 PATIENTS WHO INITIALLY STARTED 4451 02:46:35,120 --> 02:46:36,320 OUTPATIENT STAGE, THAT'S TOO 4452 02:46:36,320 --> 02:46:41,120 TRUE FOR INITIATING PATIENTS 4453 02:46:41,120 --> 02:46:42,640 MEETING, WALKING WITH SUPPORT 4454 02:46:42,640 --> 02:46:44,680 WALK. THEN IT WILL BE A GROUP 4455 02:46:44,680 --> 02:46:47,000 PATIENTS EVEN THOUGH THEY HAVE 4456 02:46:47,000 --> 02:46:49,120 LIKE GREATER INVOLVEMENT 4457 02:46:49,120 --> 02:46:50,720 JUST ABLE TO SIT OR 4458 02:46:50,720 --> 02:46:52,280 CONTROL PROGRESS CAN BE SEEN 4459 02:46:52,280 --> 02:46:54,280 ALL THE TIME. SO WE START TO GET A 4460 02:46:54,280 --> 02:46:55,640 THE TASTE MAY BE SIMPLER 4461 02:46:55,640 --> 02:46:57,400 HOW TO CATCH A MOTORCYCLE CORRECTLY 4462 02:46:57,400 --> 02:47:03,880 CHANGES. SO AS I EXPLAINED, WE 4463 02:47:03,880 --> 02:47:05,920 HAVE THREE DIFFERENT GROUPS 4464 02:47:05,920 --> 02:47:08,920 RELEVANT TO THIS DISEASE AND 4465 02:47:08,920 --> 02:47:11,160 THIS POSSIBILITY REQUIRES BOTH 4466 02:47:11,160 --> 02:47:14,320 DUE TO NON STANDARD MEASURES 4467 02:47:14,320 --> 02:47:16,520 THEY DEVELOP OTHER DISORDERS 4468 02:47:16,520 --> 02:47:17,920 IT MAY HAVE A FLOOR EFFECT 4469 02:47:17,920 --> 02:47:20,280 AND TAYLOR'S POSSIBLE OUTCOMES 4470 02:47:20,280 --> 02:47:22,000 SPECIAL DISEASES GROUPS IN 4471 02:47:22,000 --> 02:47:24,120 THIS RARE DISEASE. SO LEARN 4472 02:47:24,120 --> 02:47:25,480 RESIDENTS NEED TO PICK UP 4473 02:47:25,480 --> 02:47:26,760 BE CAREFUL IN YOUR CONSIDERATIONS 4474 02:47:26,760 --> 02:47:28,800 HER GROUPS OF PATIENTS PARTICIPATE 4475 02:47:28,800 --> 02:47:31,360 AND IT POSSIBLY NEEDS A DESIGN 4476 02:47:31,360 --> 02:47:32,840 PREVIOUSLY INCLUDED TRIALS 4477 02:47:32,840 --> 02:47:34,160 MOTORCYCLE RESULTS THAT NEED TO BE NOTED 4478 02:47:34,160 --> 02:47:36,840 ACCOUNT OF LONG LAG TIMES 4479 02:47:36,840 --> 02:47:37,520 DURING A DISEASE THAT CAN BE 4480 02:47:37,520 --> 02:47:42,160 DEVELOPING. I HOPE THAT IS DESCRIBING 4481 02:47:42,160 --> 02:47:43,960 CHALLENGES AND ALTERNATIVES 4482 02:47:43,960 --> 02:47:46,920 MOTOR DEFINITION APPROACH 4483 02:47:46,920 --> 02:47:48,120 VERY RARE RESULT OF THE DISEASE 4484 02:47:48,120 --> 02:47:50,240 POPULATION AND HOPE THIS 4485 02:47:50,240 --> 02:47:52,040 TYPE OF APPROACH WILL BE 4486 02:47:52,040 --> 02:47:53,160 CAN BE APPLIED ON 4487 02:47:53,160 --> 02:47:55,720 CLINICAL TRIALS AND MORE TO GO 4488 02:47:55,720 --> 02:47:58,320 ANNOUNCED TO ALLOW ACCESS TO 4489 02:47:58,320 --> 02:47:59,640 RARE CLINICAL TRIAL DESIGNS 4490 02:47:59,640 --> 02:48:04,800 DISEASE. THANK YOU VERY MUCH. 4491 02:48:04,800 --> 02:48:07,760 >> THANK YOU FOR THE WONDERFUL 4492 02:48:07,760 --> 02:48:09,080 PRESENTATION. NOW WE WILL HAVE 4493 02:48:09,080 --> 02:48:10,320 OPEN DISCUSSION WITH QUESTIONS 4494 02:48:10,320 --> 02:48:11,800 FROM THE AUDIENCE. FIRST FOR YOU 4495 02:48:11,800 --> 02:48:14,000 SCOTT, THERE ARE MANY 4496 02:48:14,000 --> 02:48:17,360 INTERESTED IN HOW ADDITIONAL DISEASES ARE 4497 02:48:17,360 --> 02:48:20,840 MAY ENTER ASO 4498 02:48:20,840 --> 02:48:21,840 CLINICAL TRIAL APPROACHES. IF YOU 4499 02:48:21,840 --> 02:48:25,280 MAYBE YOU CAN EXPLAIN ABOUT IT FIRST 4500 02:48:25,280 --> 02:48:27,080 CERTAIN TYPES OF DISEASES 4501 02:48:27,080 --> 02:48:29,720 AND CERTAIN TYPES 4502 02:48:29,720 --> 02:48:31,880 AMIN MUTATION AGREES WITH THIS 4503 02:48:31,880 --> 02:48:33,720 APPROACHES AND MAYBE YOU AND 4504 02:48:33,720 --> 02:48:35,440 ADELINE CAN TALK ABOUT THINKING 4505 02:48:35,440 --> 02:48:37,120 ABOUT THE FUTURE HOW TO GET MORE 4506 02:48:37,120 --> 02:48:38,120 THE PATIENT IS INVOLVED IN THIS 4507 02:48:38,120 --> 02:48:40,880 CLINICAL TRIAL APPROACHES. 4508 02:48:40,880 --> 02:48:44,880 >> THANK YOU PJ. IT WAS GREAT 4509 02:48:44,880 --> 02:48:47,000 QUESTION. SO START A LITTLE BIT 4510 02:48:47,000 --> 02:48:51,320 BIT WITH EXISTING MECHANISM 4511 02:48:51,320 --> 02:48:55,480 APPLY AND WHEN WE CAN TOUCH 4512 02:48:55,480 --> 02:48:57,520 ON STRUCTURAL PROBLEMS OF SOCIETY 4513 02:48:57,520 --> 02:48:59,200 HOW TO GET MORE ACCESS 4514 02:48:59,200 --> 02:49:06,080 PATIENT. ASO HAS BEEN USED 4515 02:49:06,080 --> 02:49:07,560 FOR TWO PURPOSES OR TWO 4516 02:49:07,560 --> 02:49:12,840 MECHANISM SO FAR. I WILL SAY 4517 02:49:12,840 --> 02:49:15,600 HOW A NOVEL IS EXPLAINED BY 4518 02:49:15,600 --> 02:49:20,320 MANY GROUPS. THE FIRST ONE IS 4519 02:49:20,320 --> 02:49:22,320 REPLACE Slice. THAT MEANS US 4520 02:49:22,320 --> 02:49:24,080 EXISTS IN SEVERAL FORMS OR FASHIONS 4521 02:49:24,080 --> 02:49:27,240 TRY TO CHANGE THE PROCESSING 4522 02:49:27,240 --> 02:49:30,560 AT THE RNA STAGE. SO BART MENTIONED 4523 02:49:30,560 --> 02:49:32,240 PROTEIN DNA RNA AS BASIC TENANT 4524 02:49:32,240 --> 02:49:36,800 WE CONNECT WITH HERE. MORE 4525 02:49:36,800 --> 02:49:39,200 INFORMATION GETS TRANSITIONED 4526 02:49:39,200 --> 02:49:40,800 FROM DNA TO RNA FROM NECESSARY 4527 02:49:40,800 --> 02:49:44,120 TO MAKE PROTEIN THERE IS A 4528 02:49:44,120 --> 02:49:45,680 THE PROCESS OF CONNECTING OR WITHDRAWAL 4529 02:49:45,680 --> 02:49:47,360 GET OUT SOME OF THAT INFORMATION AND 4530 02:49:47,360 --> 02:49:48,800 LEFT WITH THE MOST IMPORTANT 4531 02:49:48,800 --> 02:49:53,800 PARTS. THAT PART OF THE PROCESS CAN WORK 4532 02:49:53,800 --> 02:49:55,560 WRONG SO ASO HAS BEEN USED 4533 02:49:55,560 --> 02:49:59,240 TRY TO FIX IT AND GET IT 4534 02:49:59,240 --> 02:50:02,360 RIGHT CONNECTION OR SKIP AN 4535 02:50:02,360 --> 02:50:03,880 WRONG PART THROUGH SPLICING 4536 02:50:03,880 --> 02:50:07,040 PROCESS. ASO OTHER WAYS 4537 02:50:07,040 --> 02:50:09,240 HAS BEEN USED THROUGH 4538 02:50:09,240 --> 02:50:11,000 SOMETHING CALLED KNOCK DOWN. 4539 02:50:11,000 --> 02:50:14,360 THE BASIS IS YOUR PROCESS 4540 02:50:14,360 --> 02:50:17,440 CAN TAKE GENES AT THE RNA STAGE 4541 02:50:17,440 --> 02:50:21,080 AND TELL THE CELLS DON'T EXPRESS 4542 02:50:21,080 --> 02:50:23,040 THIS, DON'T CHANGE IT 4543 02:50:23,040 --> 02:50:24,600 PROTEIN, DESTROY THAT RNA AND 4544 02:50:24,600 --> 02:50:29,440 DO NOT TAKE ADVANTAGE OF IT. THAT'S TWO 4545 02:50:29,440 --> 02:50:30,960 THE MAIN MECHANISM USED LIKE THIS 4546 02:50:30,960 --> 02:50:32,640 AWAY BUT THERE IS WORK TO BE DONE 4547 02:50:32,640 --> 02:50:34,040 TO TRY TO EARN ANOTHER WAY 4548 02:50:34,040 --> 02:50:36,160 USING ASO. IT'S REAL 4549 02:50:36,160 --> 02:50:37,840 THE PROBLEM IS HOW YOU GET MORE GROUPS 4550 02:50:37,840 --> 02:50:39,200 TO THIS. THERE'S JUST A LOT 4551 02:50:39,200 --> 02:50:41,040 PEOPLE STUDY THIS AND EXIST 4552 02:50:41,040 --> 02:50:42,520 THERE'S JUST SO MUCH TIME IN THE DAY. i 4553 02:50:42,520 --> 02:50:44,000 THINK WE WANT TO BE CAREFUL 4554 02:50:44,000 --> 02:50:46,960 ABOUT HOW WE ARE PRIORITIZING 4555 02:50:46,960 --> 02:50:50,960 FOR SUCCESS. N OF 1 US 4556 02:50:50,960 --> 02:50:52,280 COLLABORATION IS NOT A 4557 02:50:52,280 --> 02:50:53,720 REGULATORY AGENCY WE ARE NOT 4558 02:50:53,720 --> 02:50:54,840 TELLING PEOPLE THEY CAN OR 4559 02:50:54,840 --> 02:50:56,520 CAN'T DO SOMETHING. JUST TRY 4560 02:50:56,520 --> 02:50:58,000 TO HELP SUPPORT SUCCESS 4561 02:50:58,000 --> 02:51:01,200 INITIATIVE AS WE CAN 4562 02:51:01,200 --> 02:51:02,720 SHOW PEOPLE WHAT'S WORKING, WHAT 4563 02:51:02,720 --> 02:51:04,280 NOT WORKING YET. THERE IS 4564 02:51:04,280 --> 02:51:05,440 INTERESTING QUESTIONS WE CAN HAVE 4565 02:51:05,440 --> 02:51:10,400 LIAISON BETWEEN PATIENTS OR 4566 02:51:10,400 --> 02:51:12,920 ORGANIZATION OR FAMILY GROUP 4567 02:51:12,920 --> 02:51:13,560 CONDUCT CERTAIN RESEARCH 4568 02:51:13,560 --> 02:51:14,800 SOMETHING TO EXPLORE AS WE GO 4569 02:51:14,800 --> 02:51:17,360 FORWARD TOO. 4570 02:51:17,360 --> 02:51:21,280 >> ADELINE, DO YOU WANT 4571 02:51:21,280 --> 02:51:22,040 COMMENTS? 4572 02:51:22,040 --> 02:51:23,000 >> YES, I WILL THIS A 4573 02:51:23,000 --> 02:51:24,600 PROBLEM, THIS NEEDS AN AN SCALE 4574 02:51:24,600 --> 02:51:26,640 SCOPE IS A LOT OF MATTER 4575 02:51:26,640 --> 02:51:28,720 THERAPEUTIC ADVANTAGES OF 4576 02:51:28,720 --> 02:51:31,320 MOLECULAR, ASO OR GENE TREATMENT 4577 02:51:31,320 --> 02:51:33,440 THERAPY. THERE ARE SOMETHING RARE 4578 02:51:33,440 --> 02:51:34,440 THE DISEASE OF THE EXISTING 4579 02:51:34,440 --> 02:51:35,840 CLINICAL AND SIGNATURE, 4580 02:51:35,840 --> 02:51:37,040 STUDYING RARE AND DISEASES 4581 02:51:37,040 --> 02:51:38,560 ABLE TO DO THIS. 4582 02:51:38,560 --> 02:51:44,360 SO I THINK FOR THEM 4583 02:51:44,360 --> 02:51:45,600 ADVOCACY GROUPS TO SUPPORT AND 4584 02:51:45,600 --> 02:51:47,360 PARTNER CAREER DEVELOPMENT 4585 02:51:47,360 --> 02:51:50,240 POSSIBLE KEY INVESTIGATORS 4586 02:51:50,240 --> 02:51:51,840 JUNIOR AND WILL TAKE RARE 4587 02:51:51,840 --> 02:51:54,480 DISEASES AND PARTNERS WITH YOU 4588 02:51:54,480 --> 02:51:55,520 DEVELOPING AN UNDERSTANDING OF THE NOVEL 4589 02:51:55,520 --> 02:51:57,200 DISEASES AND THEIR POTENTIAL 4590 02:51:57,200 --> 02:51:58,960 FUTURE NOVEL THERAPY, IT 4591 02:51:58,960 --> 02:52:00,320 NOT MY AND MY EXPECTATIONS 4592 02:52:00,320 --> 02:52:01,440 THE CAREER THAT I WOULD BE IN A 4593 02:52:01,440 --> 02:52:03,080 THE POINT IS NOT 4594 02:52:03,080 --> 02:52:04,200 FEASIBILITY AND POSSIBILITY 4595 02:52:04,200 --> 02:52:05,880 TREATMENT OF RARE BUT EXISTING DISEASES 4596 02:52:05,880 --> 02:52:08,240 THAT EXECUTIBILITY. LIKE 4597 02:52:08,240 --> 02:52:09,840 HOW DO YOU FINISH THE JOB AND HOW 4598 02:52:09,840 --> 02:52:12,640 WILL YOU FIND ANYONE TO DO THAT 4599 02:52:12,640 --> 02:52:13,840 WORKS. THERE ARE IMPROVEMENTS 4600 02:52:13,840 --> 02:52:15,560 ROAD PATTERN FOR THAT 4601 02:52:15,560 --> 02:52:17,000 IT HAPPENED BUT YOU STILL NEED IT 4602 02:52:17,000 --> 02:52:18,840 SHOES ON THE GROUND TO GET IT 4603 02:52:18,840 --> 02:52:20,440 DONE. AS A FINAL POINT 4604 02:52:20,440 --> 02:52:23,000 ADVOCACY PARTNERS MAY INCREASE 4605 02:52:23,000 --> 02:52:25,240 THAT PROCESS, BY PARTNERING WITH 4606 02:52:25,240 --> 02:52:26,080 PEOPLE FOR NATURAL COLLECTING 4607 02:52:26,080 --> 02:52:27,240 HISTORY AND EXISTING DATA 4608 02:52:27,240 --> 02:52:29,920 IMPROVING THE MODEL FOR IT 4609 02:52:29,920 --> 02:52:31,720 IT HAPPENED AND WE COLLABORATE WITH 4610 02:52:31,720 --> 02:52:33,280 50 ADVOCACY GROUPS. SO I WAS RIGHT 4611 02:52:33,280 --> 02:52:35,840 THINK MANY PARTNERSHIPS AND 4612 02:52:35,840 --> 02:52:39,080 GROWTH BETWEEN ADVOCACY PARTNERS 4613 02:52:39,080 --> 02:52:41,040 AND SCIENTISTS AND CLINICIANS ARE 4614 02:52:41,040 --> 02:52:42,160 IMPORTANT TAKEAWAY 4615 02:52:42,160 --> 02:52:43,200 DREAMS FRUIT. 4616 02:52:43,200 --> 02:52:46,800 >> THAT'S A GREAT POINT. 4617 02:52:46,800 --> 02:52:48,480 NOW INCREASED FOR SOME OF THE 4618 02:52:48,480 --> 02:52:50,160 THIS DISEASE, WHICH IS LIMITING 4619 02:52:50,160 --> 02:52:52,600 THE FACTOR IS NOT BIG 4620 02:52:52,600 --> 02:52:53,640 DEVELOPMENT OF SCIENTIFIC KNOWLEDGE 4621 02:52:53,640 --> 02:52:59,440 THERAPY IS PRACTICAL 4622 02:52:59,440 --> 02:53:00,320 STARTING CLINICAL TRIALS. 4623 02:53:00,320 --> 02:53:02,440 QUESTION FOR MEHMET. YOU 4624 02:53:02,440 --> 02:53:04,560 PRINCESS HAS SPLICING 4625 02:53:04,560 --> 02:53:10,040 MUTATION, IN THE A-T GENE. i 4626 02:53:10,040 --> 02:53:11,600 THINK YOU SAID YOU LEARNED ABOUT 4627 02:53:11,600 --> 02:53:12,840 THIS IS BECAUSE SOMEONE SENT A 4628 02:53:12,840 --> 02:53:15,360 THE PAPER SHOWS THEY CAN FIX 4629 02:53:15,360 --> 02:53:17,600 THIS IS WITH ASO. TRY ASKING 4630 02:53:17,600 --> 02:53:20,280 YOU TO STEP BACK AND PUT 4631 02:53:20,280 --> 02:53:21,480 HIMSELF HAS MANY POSITIONS 4632 02:53:21,480 --> 02:53:22,920 PARENTS MAY BE WATCHING 4633 02:53:22,920 --> 02:53:25,920 THIS. AS FAR AS YOU DO 4634 02:53:25,920 --> 02:53:26,960 EVEN UNDERSTAND ANYTHING 4635 02:53:26,960 --> 02:53:30,920 MUTATIONS ARE. AND HOW DO YOU 4636 02:53:30,920 --> 02:53:32,360 FIND OUT MORE ABOUT IT, WAS 4637 02:53:32,360 --> 02:53:33,640 THAT'S SOMETHING YOU DISCUSS 4638 02:53:33,640 --> 02:53:37,400 WITH YOUR DOCTOR? 4639 02:53:37,400 --> 02:53:43,480 >> YES. I DON'T DO IT -- I HAVE SOME 4640 02:53:43,480 --> 02:53:55,800 I GOT THE BACKGROUND TO THIS TOPIC 4641 02:53:55,800 --> 02:53:56,800 PRIOR BIOINFORMATICS SOURCES 4642 02:53:56,800 --> 02:53:58,240 I HAVE UNDERSTANDED SOME 4643 02:53:58,240 --> 02:54:08,040 THESE THINGS. SO I CAN SAY 4644 02:54:08,040 --> 02:54:16,640 IT'S LIKE -- IT'S NOT EASY 4645 02:54:16,640 --> 02:54:30,720 SUCH DERIVATIONS MAY BE NECESSARY 4646 02:54:30,720 --> 02:54:33,400 HAVE BACKGROUND INFORMATION. BUT 4647 02:54:33,400 --> 02:54:37,800 I THINK N OF 1 COLLABORATION, 4648 02:54:37,800 --> 02:54:39,560 PEOPLE THERE ARE MANY PEOPLE WHO ARE 4649 02:54:39,560 --> 02:54:45,720 ARE EXPERTS ON THIS TOPIC. i 4650 02:54:45,720 --> 02:54:52,000 I'M SURE PEOPLE WILL 4651 02:54:52,000 --> 02:54:56,400 BE -- GOING DIRECTLY TO THE RIGHT 4652 02:54:56,400 --> 02:55:00,840 PLACE. IN MY EXPERIENCE IT STARTED 4653 02:55:00,840 --> 02:55:03,520 THIS, PEOPLE FROM ALL AROUND 4654 02:55:03,520 --> 02:55:05,000 THEIR PLACE OF UNDERSTANDING -- IS 4655 02:55:05,000 --> 02:55:06,560 SEND ME A GENETIC REPORT. 4656 02:55:06,560 --> 02:55:08,040 THEY LIKE THIS AMENABLE 4657 02:55:08,040 --> 02:55:08,240 TO -- 4658 02:55:08,240 --> 02:55:10,200 >> YES, THAT'S WHAT I AM 4659 02:55:10,200 --> 02:55:11,680 WANT TO GET. I'M NOT SURE 4660 02:55:11,680 --> 02:55:15,360 THAT'S THE BEST WAY FOR THIS 4661 02:55:15,360 --> 02:55:16,520 IT HAPPENED SO I THINK I ASKED -- 4662 02:55:16,520 --> 02:55:19,720 CONTINUE. 4663 02:55:19,720 --> 02:55:23,440 >> ONE THING NEEDS TO MENTION 4664 02:55:23,440 --> 02:55:25,200 THIS, SO WE -- THIS IS A 4665 02:55:25,200 --> 02:55:28,160 A RARE DISEASE AND WE DON'T 4666 02:55:28,160 --> 02:55:30,120 EXPECT TO -- WE DON'T THINK 4667 02:55:30,120 --> 02:55:33,040 THERE ARE OTHER PEOPLE WITH 4668 02:55:33,040 --> 02:55:35,240 MUTATIONS ARE SAME BUT THEY ARE REAL 4669 02:55:35,240 --> 02:55:37,840 SO THERE ARE FIVE OTHER PATIENTS 4670 02:55:37,840 --> 02:55:40,680 WITH THE EXACT SAME MUTATION. 4671 02:55:40,680 --> 02:55:42,880 SO THE WAY WE FIND, THEY SEND 4672 02:55:42,880 --> 02:55:47,200 THEIR GENETIC REPORT OR YOU SEE 4673 02:55:47,200 --> 02:55:49,600 THEY'RE THE SAME. WE NEED LIKE 4674 02:55:49,600 --> 02:55:54,440 ANYWHERE DATA SHARING PLATFORM 4675 02:55:54,440 --> 02:55:58,200 EXPERTS CAN INTERPRET THAT 4676 02:55:58,200 --> 02:56:01,760 THINGS, MAYBE WITH SOME 4677 02:56:01,760 --> 02:56:03,080 INFORMATION, SUCH AS -- ALL PATIENTS 4678 02:56:03,080 --> 02:56:04,360 GENETIC REPORT AT END OF DAY 4679 02:56:04,360 --> 02:56:08,760 IN THEIR HANDS. THEY DON'T 4680 02:56:08,760 --> 02:56:09,840 KNOW IF THIS IS ACCEPTABLE 4681 02:56:09,840 --> 02:56:17,200 SOMETHING. 4682 02:56:17,200 --> 02:56:20,880 >> BACK TO SCOTT AND -- TO WHAT 4683 02:56:20,880 --> 02:56:22,200 AS FAR AS THE PATIENT GETS GENETIC 4684 02:56:22,200 --> 02:56:23,600 REPORT AND SEE WHAT THE DISEASE IS 4685 02:56:23,600 --> 02:56:24,800 IT IS, BUT ALSO SEE SOME 4686 02:56:24,800 --> 02:56:27,840 THE INFORMATION IS WRITTEN THERE 4687 02:56:27,840 --> 02:56:30,440 THAT YOU WILL BE AWARE OF THE MEANS 4688 02:56:30,440 --> 02:56:31,480 SPLICING MUTATION, IT'S A 4689 02:56:31,480 --> 02:56:34,680 DOMINANT MUTATION. MAYBE 4690 02:56:34,680 --> 02:56:39,040 AGREE WITH ASO'S APPROACH. TO 4691 02:56:39,040 --> 02:56:41,640 AS FAR AS WHOSE JOB IT IS 4692 02:56:41,640 --> 02:56:42,600 EXPLAIN IT TO THE PATIENT WHO GETS IT 4693 02:56:42,600 --> 02:56:45,720 THEY REPORT WHAT THE POTENTIAL IS 4694 02:56:45,720 --> 02:56:47,200 IMPLEMENTATION AND ACTION 4695 02:56:47,200 --> 02:56:49,760 THAT INFORMATION IS. 4696 02:56:49,760 --> 02:56:52,480 >> I CAN TAKE THE FIRST STICK. 4697 02:56:52,480 --> 02:56:53,680 GENETIC REPORTING IS ALWAYS REQUIRED 4698 02:56:53,680 --> 02:56:55,800 PROVIDED WITH A GENETIC COUNSELOR 4699 02:56:55,800 --> 02:56:57,760 AND CLINICAL EXPERT WITH 4700 02:56:57,760 --> 02:57:03,480 EXPERTISE IN HUMAN GENETICS 4701 02:57:03,480 --> 02:57:06,440 IDEALLY SHOULD NEVER BE ACCEPTED, 4702 02:57:06,440 --> 02:57:07,800 THE FIRST PERSON TO RETURN 4703 02:57:07,800 --> 02:57:09,320 IT WAS THE PERSON WHO GAVE YOU THAT 4704 02:57:09,320 --> 02:57:10,840 REPORT AND ASK WHAT THEY ARE 4705 02:57:10,840 --> 02:57:13,880 CAN'T HELP YOU EXPLAIN THAT 4706 02:57:13,880 --> 02:57:16,760 SEE A GENETIC PROFESSIONAL 4707 02:57:16,760 --> 02:57:19,160 WHO CAN. THAT'S NUMBER ONE. that 4708 02:57:19,160 --> 02:57:20,280 IT'S ALSO IMPORTANT TO NOTE 4709 02:57:20,280 --> 02:57:21,720 GENETIC COUNSELOR OR 4710 02:57:21,720 --> 02:57:23,280 GENETICIANS ASKING TESTS, 4711 02:57:23,280 --> 02:57:25,040 THERE MAY BE NO DATA AVAILABLE TO 4712 02:57:25,040 --> 02:57:27,640 KNOW THAT FOR SURE. SO SPLICE 4713 02:57:27,640 --> 02:57:28,800 DIFFERENT SITE MUTATIONS 4714 02:57:28,800 --> 02:57:30,240 BECAUSE THEY ARE BETTER MAPPED 4715 02:57:30,240 --> 02:57:32,160 INTO THE GENOME. IT EVEN SEWS US UP 4716 02:57:32,160 --> 02:57:33,840 DO NOT ALWAYS KNOW FOR SURE 4717 02:57:33,840 --> 02:57:35,000 IF THERE IS A CONNECTION ERROR 4718 02:57:35,000 --> 02:57:37,760 FROM GENETIC REPORTS. AND US 4719 02:57:37,760 --> 02:57:40,760 ALSO DON'T KNOW IF THERE IS A 4720 02:57:40,760 --> 02:57:41,720 HETEROZYGOTE WHICH MEANS CHANGE 4721 02:57:41,720 --> 02:57:43,400 FROM ONE COPY OF A GENE, IT DOESN'T 4722 02:57:43,400 --> 02:57:45,040 MEANS THAT IS THE CAUSE 4723 02:57:45,040 --> 02:57:49,640 DISEASES ARE ACTUALLY BENEFITS 4724 02:57:49,640 --> 02:57:52,120 FUNCTION OR LOSS OF FUNCTION, IT 4725 02:57:52,120 --> 02:57:53,640 DOESN'T TELL YOU TOO MUCH OR TOO MUCH 4726 02:57:53,640 --> 02:57:55,440 SMALL OR FUNCTIONAL PROTEINS 4727 02:57:55,440 --> 02:57:56,400 DYSFUNCTIONAL PROTEIN AS 4728 02:57:56,400 --> 02:57:59,960 POSSIBLE CASE. SO SOMETIMES 4729 02:57:59,960 --> 02:58:01,640 THE CORRECT ANSWER IF YOU UNDERSTAND 4730 02:58:01,640 --> 02:58:03,200 WHAT THERAPEUTIC APPROACH WILL BE TAKEN 4731 02:58:03,200 --> 02:58:05,080 PROBABLY UNLESS MUCH IS KNOWN 4732 02:58:05,080 --> 02:58:07,800 ABOUT THE DISEASE ALREADY. AND 4733 02:58:07,800 --> 02:58:09,520 THERE ARE OTHER SIMILAR GENETICS 4734 02:58:09,520 --> 02:58:11,320 CHANGES ARE IN THE CELLS AND 4735 02:58:11,320 --> 02:58:16,560 PICTURE IT. IT BECOMES A 4736 02:58:16,560 --> 02:58:18,440 POTENTIAL SEVERAL YEARS LONG 4737 02:58:18,440 --> 02:58:19,880 LAB, AND BACK TO 4738 02:58:19,880 --> 02:58:21,560 PREVIOUS QUESTION HOW DO WE IMPROVE 4739 02:58:21,560 --> 02:58:24,600 AND MAKE IT WORTH IT. THERE IS 4740 02:58:24,600 --> 02:58:26,320 NOT ALWAYS A GREAT ANSWER 4741 02:58:26,320 --> 02:58:27,480 DEPENDING ON HOW RARE THE DISEASE IS 4742 02:58:27,480 --> 02:58:29,360 IS, HOW IT IS DEFINED AND WHAT 4743 02:58:29,360 --> 02:58:33,000 WE KNOW ABOUT THAT. 4744 02:58:33,000 --> 02:58:34,720 >> THANK YOU. WHATEVER SCOTT 4745 02:58:34,720 --> 02:58:35,200 ADD TONE? 4746 02:58:35,200 --> 02:58:40,560 >> AGREE COMPLETELY. WE ARE 4747 02:58:40,560 --> 02:58:41,800 RELATIVELY EARLY IN ALL THIS, 4748 02:58:41,800 --> 02:58:44,760 THERE ARE STILL RELATIVES 4749 02:58:44,760 --> 02:58:46,560 THE NUMBER OF PATIENTS TREATED IS SMALL 4750 02:58:46,560 --> 02:58:48,240 WITH N OF 1. LARGE GROUP WITH 4751 02:58:48,240 --> 02:58:54,120 N SMALL OR RARE DISEASES, AT 4752 02:58:54,120 --> 02:58:55,040 SMALL CLINICAL TRIALS. WE ARE 4753 02:58:55,040 --> 02:58:57,440 LEARN MORE. I KNOW THE GROUP 4754 02:58:57,440 --> 02:59:01,640 WORKING ON THINGS LIKE PATIENTS 4755 02:59:01,640 --> 02:59:03,200 PORTAL TO PLACE YOUR GENETICS 4756 02:59:03,200 --> 02:59:04,640 VARIETY AND SEE WHAT YOU KNOW 4757 02:59:04,640 --> 02:59:08,560 ABOUT THAT. OKAY. I CAN 4758 02:59:08,560 --> 02:59:10,320 IMAGINE A SITUATION WHERE LIKE US 4759 02:59:10,320 --> 02:59:13,200 KNOWLEDGE INCREASES, YOU CAN 4760 02:59:13,200 --> 02:59:15,560 HAVE SOMETHING THAT SAYS THIS 4761 02:59:15,560 --> 02:59:17,040 MAY OR MAY NOT AGREE 4762 02:59:17,040 --> 02:59:18,080 CERTAIN TYPES OF TREATMENT, 4763 02:59:18,080 --> 02:59:23,320 WHO WORKS ON THIS, WHO 4764 02:59:23,320 --> 02:59:24,680 PEOPLE TO GET TOO MANY IN TOUCH WITH 4765 02:59:24,680 --> 02:59:25,680 MORE STUFF FOR YOUR GROUP OR 4766 02:59:25,680 --> 02:59:28,760 YOUR PATIENT. THAT KIND 4767 02:59:28,760 --> 02:59:31,040 CONNECTIVITY IS AMAZING 4768 02:59:31,040 --> 02:59:32,600 IMPORTANT RESOURCES WE DON'T HAVE 4769 02:59:32,600 --> 02:59:36,040 BUILT NOW BUT WHERE WE SHOULD BE 4770 02:59:36,040 --> 02:59:41,040 HAPPY TO BE A SUPPORTER 4771 02:59:41,040 --> 02:59:42,600 IN THAT COLLABORATION. 4772 02:59:42,600 --> 02:59:44,120 >> YOU HIT AN IMPORTANT POINT 4773 02:59:44,120 --> 02:59:45,480 THERE IS AND MAY BE GOOD FOR 4774 02:59:45,480 --> 02:59:48,040 END ON. SO I WANT TO THANK YOU ALL 4775 02:59:48,040 --> 02:59:49,560 OUR SPEAKER AND AUDIENCE FOR 4776 02:59:49,560 --> 02:59:52,080 THIS IS A WONDERFUL PRESENTATION. NOW 4777 02:59:52,080 --> 02:59:57,920 WE HAVE A HOLIDAY UNTIL 02.20. 4778 02:59:57,920 --> 02:59:59,360 SO, MEANWHILE, LOOK 4779 02:59:59,360 --> 03:00:02,800 A APPLICATIONS AND OTHER EXHIBITIONS 4780 03:00:02,800 --> 03:00:04,440 THERE AROUND TAKE 4781 03:00:04,440 --> 03:00:05,800 OPPORTUNITY TO CONNECT WITH 4782 03:00:05,800 --> 03:00:07,320 OTHER PEOPLE ON THE APP AND SET 4783 03:00:07,320 --> 03:00:07,920 ONGOING CONVERSATION. THANK YOU 4784 03:00:07,920 --> 03:00:15,000 YOU. 4785 03:00:15,000 --> 03:00:18,080 >> HEY EVERYONE, WELCOME BACK TO 4786 03:00:18,080 --> 03:00:20,320 RARE DISEASES DAY HERE. ME 4787 03:00:20,320 --> 03:00:22,520 PJ BROOKS, ACTING DIRECTOR 4788 03:00:22,520 --> 03:00:24,080 OFFICE OF RARE DISEASES 4789 03:00:24,080 --> 03:00:25,640 RESEARCH. WELCOME 4790 03:00:25,640 --> 03:00:30,120 UPDATE OUR ACTIVITIES. FIRST 4791 03:00:30,120 --> 03:00:31,880 I WANT TO ACKNOWLEDGE THE GREAT 4792 03:00:31,880 --> 03:00:34,280 COLLEAGUES HERE AT RDR. HE 4793 03:00:34,280 --> 03:00:35,720 IT IS AN HONOR TO ACT 4794 03:00:35,720 --> 03:00:39,160 DIRECTOR. OF COURSE I'M IN THIS 4795 03:00:39,160 --> 03:00:42,080 POSITION BECAUSE 4796 03:00:42,080 --> 03:00:45,640 ANN PARISER'S DEPARTURE FOR HIM 4797 03:00:45,640 --> 03:00:47,280 WORKING IN THE FEDERAL GOVERNMENT, 4798 03:00:47,280 --> 03:00:48,880 THANK YOU FOR 20 YEARS OF WORK 4799 03:00:48,880 --> 03:00:50,160 IN PATIENTS WITH RARE DISEASES IN 4800 03:00:50,160 --> 03:00:53,120 FEDERAL GOVERNMENT AT FDA AND 4801 03:00:53,120 --> 03:00:54,840 NCATS ORDER. IT DEFINITELY WILL 4802 03:00:54,840 --> 03:00:56,800 MISS HIM, I CAN TELL FROM ME 4803 03:00:56,800 --> 03:00:59,480 PERSONAL PERSPECTIVE OF WORK 4804 03:00:59,480 --> 03:01:01,800 UNDER ANN IS DEPUTY DIRECTOR 4805 03:01:01,800 --> 03:01:04,760 ORDR IS A BIG JOB. WHAT 4806 03:01:04,760 --> 03:01:07,000 WHAT MAKES ME HAPPY IS THAT I AM SURE 4807 03:01:07,000 --> 03:01:08,040 ANN WILL CONTINUE TO BE 4808 03:01:08,040 --> 03:01:09,280 INVOLVED IN RARE DISEASES 4809 03:01:09,280 --> 03:01:11,080 RESEARCH IN ONE OR FORM 4810 03:01:11,080 --> 03:01:12,880 OTHER. AS WE FORWARD. THANK YOU 4811 03:01:12,880 --> 03:01:17,760 YOU, ANN. SO WE HAVE A LOT 4812 03:01:17,760 --> 03:01:19,560 ACTIVITIES ONGOING IN ORDR BUT I 4813 03:01:19,560 --> 03:01:21,280 HAVE TEN MINUTES SO IT DOESN'T AGE 4814 03:01:21,280 --> 03:01:25,120 HIT EVERYTHING. MY COLLEAGUES 4815 03:01:25,120 --> 03:01:26,880 ERIC AND AINSLIE WILL TALK 4816 03:01:26,880 --> 03:01:28,480 OTHER ACTIVITIES AFTER ME 4817 03:01:28,480 --> 03:01:34,520 DONE. ONE OF THE BIGGEST 4818 03:01:34,520 --> 03:01:35,920 THINGS THAT MOTIVATE OUR WORK 4819 03:01:35,920 --> 03:01:37,880 AND WHAT WE NOTE IS 4820 03:01:37,880 --> 03:01:39,520 CLEAR BETWEEN KNOWN AMOUNT 4821 03:01:39,520 --> 03:01:41,080 -- DISEASES WITH KNOWN MOLECULARS 4822 03:01:41,080 --> 03:01:42,600 EFFECTIVE BASIS 4823 03:01:42,600 --> 03:01:46,120 THERAPY. YOU ANTICIPATE LIKE WE 4824 03:01:46,120 --> 03:01:48,120 KNOW ABOUT MOLECULAR BASIS 4825 03:01:48,120 --> 03:01:49,920 WE DEVELOP THERAPY FOR DISEASES BUT 4826 03:01:49,920 --> 03:01:51,920 IN REALITY THERE IS A BIG LAG 4827 03:01:51,920 --> 03:01:54,360 THERE, WE HAVE ALMOST 7,000 4828 03:01:54,360 --> 03:01:55,880 MORE DISEASES ARE KNOWN 4829 03:01:55,880 --> 03:01:57,640 THE MOLECULAR BASIS OF JUST A FEW 4830 03:01:57,640 --> 03:01:59,760 HUNDREDS WITH THERAPY. IT 4831 03:01:59,760 --> 03:02:01,560 IT'S CLEAR AT THE LEVEL WE'RE GOING TO 4832 03:02:01,560 --> 03:02:03,520 IT WILL TAKE TOO LONG TO GET IT 4833 03:02:03,520 --> 03:02:05,320 CARE AND THERAPY FOR ALL 4834 03:02:05,320 --> 03:02:07,040 THIS DISEASE IS NECESSARY 4835 03:02:07,040 --> 03:02:08,680 THINK ABOUT THE WHOLE PROBLEM 4836 03:02:08,680 --> 03:02:10,560 A VERY RADICALLY DIFFERENT WAY. 4837 03:02:10,560 --> 03:02:11,480 ADDITIONAL SOLUTIONS I'M THINKING OF 4838 03:02:11,480 --> 03:02:12,680 WON'T CUT IT ON THIS 4839 03:02:12,680 --> 03:02:20,320 POINT. WE DO MANY THINGS 4840 03:02:20,320 --> 03:02:23,200 ORDR NCATS AND COLLABORATORS, 4841 03:02:23,200 --> 03:02:25,960 HAVE BEEN TRYING TO FIND OUT HOW TO DO IT 4842 03:02:25,960 --> 03:02:29,040 THINGS, MANY DISEASES IN TIME. 4843 03:02:29,040 --> 03:02:30,440 IN OTHER WORDS GET EXTRAORDINARY 4844 03:02:30,440 --> 03:02:32,080 APPROACHES THAT APPLY 4845 03:02:32,080 --> 03:02:34,800 FOR SINGLE DISEASES, AND SEE 4846 03:02:34,800 --> 03:02:36,560 MORE THERAPEUTIC PLATFORMS 4847 03:02:36,560 --> 03:02:38,200 A BROAD APPROACH 4848 03:02:38,200 --> 03:02:39,720 APPLY SO IT'S NOT NECESSARY 4849 03:02:39,720 --> 03:02:41,280 REPEAT EVERYTHING OVER AND OVER 4850 03:02:41,280 --> 03:02:42,800 AGAIN FOR 7,000 OR VERY RARE 4851 03:02:42,800 --> 03:02:48,080 DISEASE. THIS IS SOMETHING 4852 03:02:48,080 --> 03:02:50,040 WE HAVE BEEN IN ORDER AND 4853 03:02:50,040 --> 03:02:51,880 THIS IS FOR A LONG TIME. US NOW 4854 03:02:51,880 --> 03:02:53,960 IN THE FOURTH ITERATION 4855 03:02:53,960 --> 03:02:55,280 CLINICAL RESEARCH OF RARE DISEASES 4856 03:02:55,280 --> 03:02:58,360 A NETWORK LIKE YOU HEAR ABOUT. BUT 4857 03:02:58,360 --> 03:03:00,360 THE POINT I WANT TO MAKE HERE IS 4858 03:03:00,360 --> 03:03:03,280 EACH OF THESE CONSORTIA BY 4859 03:03:03,280 --> 03:03:05,520 THE DESIGN SHOULD BE AT LEAST FOCUS 4860 03:03:05,520 --> 03:03:06,200 THREE OR MORE RARE LINKED 4861 03:03:06,200 --> 03:03:08,600 DISEASE. SO FOR MANY YEARS WE 4862 03:03:08,600 --> 03:03:10,000 DON'T THINK ABOUT THIS AT A 4863 03:03:10,000 --> 03:03:11,720 THE COLLECTIVE, WAY OF THINKING 4864 03:03:11,720 --> 03:03:13,360 SOLUTIONS THAT HAVE MORE IMPACT 4865 03:03:13,360 --> 03:03:21,320 ONE DISEASE. SO IN CASE 4866 03:03:21,320 --> 03:03:22,600 THERAPY, MANY INTEREST US 4867 03:03:22,600 --> 03:03:24,720 NOW FOCUS ON SHARING 4868 03:03:24,720 --> 03:03:28,160 MOLECULAR OR SHARING ETIOLOGY 4869 03:03:28,160 --> 03:03:30,200 CAUSES OF DISEASE. MOLECULAR 4870 03:03:30,200 --> 03:03:31,400 NOTICED ABNORMALITIES 4871 03:03:31,400 --> 03:03:33,080 SOME DISEASES. DOUBLE 4872 03:03:33,080 --> 03:03:35,360 RARE DISEASES, SO WE CAN DEVELOP 4873 03:03:35,360 --> 03:03:36,280 BASED ON THERAPEUTIC STRATEGY 4874 03:03:36,280 --> 03:03:39,280 THAT. THIS IS A DIFFERENT WAY 4875 03:03:39,280 --> 03:03:41,520 TO THINK ABOUT THINGS 4876 03:03:41,520 --> 03:03:44,160 DISEASES TRADITIONALLY ARE 4877 03:03:44,160 --> 03:03:46,280 IDENTIFIED AND DIAGNOSIS TREATMENT 4878 03:03:46,280 --> 03:03:50,080 CLINICAL BASIS 4879 03:03:50,080 --> 03:03:51,480 MANIFESTATION. COLLECTION 4880 03:03:51,480 --> 03:03:52,760 CLINICAL MANIFESTATIONS IN 4881 03:03:52,760 --> 03:03:56,720 EARLY DAYS OF TREATMENT LIKE US 4882 03:03:56,720 --> 03:03:57,880 LEARN MORE ABOUT THE DISEASE, 4883 03:03:57,880 --> 03:03:59,640 GENETIC DISEASES, IT APPEARS 4884 03:03:59,640 --> 03:04:02,080 THE BASIS OF THOUSANDS 4885 03:04:02,080 --> 03:04:02,840 RARE GENETIC DISEASES EXIST 4886 03:04:02,840 --> 03:04:04,400 THE AMOUNT IS MUCH SMALLER 4887 03:04:04,400 --> 03:04:07,920 UNDERLYING GENETIC CAUSES, SOME 4888 03:04:07,920 --> 03:04:11,280 STAY HERE, REMOVED TO CODON 4889 03:04:11,280 --> 03:04:12,480 ABNORMAL PROTEIN FIELDS. 4890 03:04:12,480 --> 03:04:14,280 OUR SPLICE SITE MUTATION 4891 03:04:14,280 --> 03:04:17,840 LISTEN TO THE LAST SESSION. AND US 4892 03:04:17,840 --> 03:04:21,120 EXISTING CALL SIGNALS 4893 03:04:21,120 --> 03:04:23,040 CELLULAR ABNORMALITIES 4894 03:04:23,040 --> 03:04:25,120 SIGNAL PATH. THE GOOD 4895 03:04:25,120 --> 03:04:26,800 THE NEWS HERE IS THERAPEUTIC 4896 03:04:26,800 --> 03:04:28,080 A STRATEGY THAT OVERCOMES ALL 4897 03:04:28,080 --> 03:04:29,200 THESE SHARE MOLECULES 4898 03:04:29,200 --> 03:04:32,000 ETIOLOGY. REMEMBER THIS 4899 03:04:32,000 --> 03:04:35,320 IN THE CASE, IT WON'T MEAN 4900 03:04:35,320 --> 03:04:36,280 IS A CLINICAL TRIAL DESIGN FOR 4901 03:04:36,280 --> 03:04:38,920 THIS GROUP OF DISEASES AND 4902 03:04:38,920 --> 03:04:40,400 PATIENTS WITH THEM ARE DIFFERENT 4903 03:04:40,400 --> 03:04:42,200 WAYS, NON-TRADITIONAL WAYS 4904 03:04:42,200 --> 03:04:44,440 CREATE A LARGER PATIENT POOL OR 4905 03:04:44,440 --> 03:04:46,400 CLINICAL TRIALS THAT WE CAN GET 4906 03:04:46,400 --> 03:04:49,880 MORE PATIENTS WITH RARE DISEASES IN KE 4907 03:04:49,880 --> 03:04:51,640 CLINICAL TRIALS OF RASH MALI 4908 03:04:51,640 --> 03:04:53,080 THE MEDICINES THAT ARE DETERMINED FROM IF WE DO SO 4909 03:04:53,080 --> 03:04:56,280 JUST ONE DISEASE AT A TIME. US 4910 03:04:56,280 --> 03:05:00,920 THINK THIS IS BASED 4911 03:05:00,920 --> 03:05:04,280 Acronym, SAME THERAPEUTICS BASED 4912 03:05:04,280 --> 03:05:06,040 ON JOINT MOLECULAR ETIOLOGY. 4913 03:05:06,040 --> 03:05:08,040 THERE IS A PRESENCE TO DO 4914 03:05:08,040 --> 03:05:11,040 IT IS, AND IT COMES FROM IT 4915 03:05:11,040 --> 03:05:12,080 GENOMICALLY SUPPORTED ONCOLOGY 4916 03:05:12,080 --> 03:05:13,720 BASKETBALL TEST IN CANCER 4917 03:05:13,720 --> 03:05:17,720 SOME OF THE MOST INTERESTING AREAS 4918 03:05:17,720 --> 03:05:19,400 THE JOB HAS BEEN CHECKED DOWN 4919 03:05:19,400 --> 03:05:21,480 A FEW YEARS AGO WAS THE IDENTIFICATION OF DRUGS 4920 03:05:21,480 --> 03:05:22,960 MOLECULAR TARGET TA 4921 03:05:22,960 --> 03:05:23,960 CUTTING ABNORMALITIES 4922 03:05:23,960 --> 03:05:28,840 MULTIPLE CANCER. SO NOT 4923 03:05:28,840 --> 03:05:31,040 DEVELOPING COLON MEDICINE 4924 03:05:31,040 --> 03:05:32,120 CANCER, DIFFERENT TYPES 4925 03:05:32,120 --> 03:05:33,800 CANCER OR THYROID CANCER, YOU 4926 03:05:33,800 --> 03:05:36,360 SAY, LET'S FORGET ABOUT THIS 4927 03:05:36,360 --> 03:05:38,200 BODY LOCATION OF CANCER 4928 03:05:38,200 --> 03:05:41,080 THERE AND SAY DEVELOP A MEDICINE 4929 03:05:41,080 --> 03:05:43,280 WHICH GETS THAT MOLECULAR PATHWAY 4930 03:05:43,280 --> 03:05:47,040 AFFECTED BY SEVERAL TYPES OF CANCER. 4931 03:05:47,040 --> 03:05:49,320 THIS IS CALLED A TRIAL 4932 03:05:49,320 --> 03:05:49,960 BECAUSE YOU PUT A DIFFERENT ONE 4933 03:05:49,960 --> 03:05:51,520 CANCER OR PATIENTS WITH 4934 03:05:51,520 --> 03:05:53,280 DIFFERENT CANCERS IN THE CART TO 4935 03:05:53,280 --> 03:05:56,600 CONDUCT CLINICAL TRIALS. IT 4936 03:05:56,600 --> 03:05:58,080 THE IMPORTANT THING HERE IS THAT 4937 03:05:58,080 --> 03:05:59,640 THIS APPROACH IS NOT ONLY 4938 03:05:59,640 --> 03:06:02,080 SUCCESSFUL BUT WAS LEAD TO FDA 4939 03:06:02,080 --> 03:06:03,920 APPROVAL OF DRUGS TO BE TREATMENT 4940 03:06:03,920 --> 03:06:06,160 THIS SPECIAL CLASS OF CANCER, 4941 03:06:06,160 --> 03:06:07,400 THE DETAILS ARE NOT IMPORTANT, 4942 03:06:07,400 --> 03:06:08,000 WHAT IS IMPORTANT IS 4943 03:06:08,000 --> 03:06:13,360 APPROACH TO GROUPING PATIENTS BY 4944 03:06:13,360 --> 03:06:14,600 FURTHER MOLECULAR ABNORMALITIES 4945 03:06:14,600 --> 03:06:16,560 FROM THE PHENOTYPY OF THE WAY 4946 03:06:16,560 --> 03:06:18,160 IT SEEMS THAT THE DISEASE DID IT 4947 03:06:18,160 --> 03:06:19,440 IT'S OBVIOUS THAT YOU CAN 4948 03:06:19,440 --> 03:06:20,480 DO THIS FOR RARE DISEASES AS 4949 03:06:20,480 --> 03:06:25,200 OK. SO WE HAVE TO HAVE A 4950 03:06:25,200 --> 03:06:27,000 FUNDING OPPORTUNITIES NOW 4951 03:06:27,000 --> 03:06:28,480 CLOSE, WE HAVE TWO GOING ON 4952 03:06:28,480 --> 03:06:33,520 PROJECTS THAT ARE DEVELOPING 4953 03:06:33,520 --> 03:06:34,440 CLINICAL TRIALS OF BASKETS ARE MADE 4954 03:06:34,440 --> 03:06:36,360 TARGETING MOLECULAR SHARE 4955 03:06:36,360 --> 03:06:37,600 ETIOLOGY AND RARE DISEASES, TWO 4956 03:06:37,600 --> 03:06:41,160 REGISTER HERE. YOU CAN SEE 4957 03:06:41,160 --> 03:06:43,760 THE SECOND, ALMOST 4958 03:06:43,760 --> 03:06:46,800 REDEFINING THE DISEASE BASED ON 4959 03:06:46,800 --> 03:06:48,480 MOLECULAR ABNORMALITIES, THIS IS IT 4960 03:06:48,480 --> 03:06:51,360 THINGS THAT WILL BE VALUABLE 4961 03:06:51,360 --> 03:06:56,040 IN THE FUTURE THE BIG ASPECT IS 4962 03:06:56,040 --> 03:06:58,440 APPROVING TO THE FDA WITH PLANS TO 4963 03:06:58,440 --> 03:07:02,240 SUPPORT THIS TRIAL 4964 03:07:02,240 --> 03:07:04,240 WORKING WITH THEM IDENTIFYING A 4965 03:07:04,240 --> 03:07:11,760 THERAPEUTIC PATHWAYS. BASED ON 4966 03:07:11,760 --> 03:07:13,760 STAY ON THE ONCOLOGY CART 4967 03:07:13,760 --> 03:07:16,080 TRIAL. WE HAVE TAKEN THIS 4968 03:07:16,080 --> 03:07:17,360 FURTHER APPROACHES OR THERE ARE 4969 03:07:17,360 --> 03:07:19,160 DO IT FURTHER, LIKE A LOT 4970 03:07:19,160 --> 03:07:21,600 YOU MIGHT KNOW, THAT WE'RE AT NCATS 4971 03:07:21,600 --> 03:07:23,480 AND SOME OF THEM 4972 03:07:23,480 --> 03:07:24,560 INSTITUTES AND CENTERS ARE PART 4973 03:07:24,560 --> 03:07:26,080 FROM RARE INTERNATIONAL 4974 03:07:26,080 --> 03:07:31,880 DISEASE RESEARCH CONSORTIUM OR 4975 03:07:31,880 --> 03:07:34,440 RDRC. IT WORKS RARELY 4976 03:07:34,440 --> 03:07:35,480 DISEASE REPRESENTATIVE AND 4977 03:07:35,480 --> 03:07:37,640 STAKEHOLDERS AROUND THE WORLD 4978 03:07:37,640 --> 03:07:39,840 ON A TOPIC OF WIDE INTEREST AND 4979 03:07:39,840 --> 03:07:41,160 IN THAT GROUP WE DEVELOPED A 4980 03:07:41,160 --> 03:07:42,520 FOCUSED WORKING GROUP 4981 03:07:42,520 --> 03:07:44,240 SPECIALLY ON MOLECULAR SHARE 4982 03:07:44,240 --> 03:07:45,560 MULTIPLE UNDERLYING ETIOLOGIES 4983 03:07:45,560 --> 03:07:47,160 RARE DISEASES. SO WE CAN EXPLORE IT 4984 03:07:47,160 --> 03:07:48,680 HOW CAN WE MOVE FORWARD 4985 03:07:48,680 --> 03:07:50,520 THIS IS NOT JUST WITHIN THE UNITED STATES 4986 03:07:50,520 --> 03:07:52,640 COUNTRIES BUT INDEED ALL OVER THE WORLD 4987 03:07:52,640 --> 03:07:55,040 BECAUSE AS WE KNOW, THE DISEASE IS RARE 4988 03:07:55,040 --> 03:07:57,640 AFFECTING PATIENTS AROUND THE WORLD. 4989 03:07:57,640 --> 03:07:59,320 THAT MAY BE ANOTHER WAY TO EARN 4990 03:07:59,320 --> 03:08:00,200 MORE PATIENTS IN THIS 4991 03:08:00,200 --> 03:08:04,960 CLINICAL TRIALS. SO THINK 4992 03:08:04,960 --> 03:08:08,440 MORE GENERAL ABOUT THIS, A LOT 4993 03:08:08,440 --> 03:08:11,240 THE DISEASE IS MONOGENIC 4994 03:08:11,240 --> 03:08:14,520 DISEASE. SINGLE GENE DISORDERS 4995 03:08:14,520 --> 03:08:17,080 THE RESULTS OF NOT ACTIVATING 4996 03:08:17,080 --> 03:08:19,840 MUTATIONS IN ONE GENE AND 4997 03:08:19,840 --> 03:08:22,680 HOW TO TREAT THEM IN PRINCIPAL 4998 03:08:22,680 --> 03:08:24,720 IS WITH EXISTING GENE THERAPY 4999 03:08:24,720 --> 03:08:27,400 SEND A WORKING COPY 5000 03:08:27,400 --> 03:08:29,080 THERAPEUTIC GENES ARE BECOMING RELEVANT 5001 03:08:29,080 --> 03:08:31,080 PATIENT TISSUE CELLS. 5002 03:08:31,080 --> 03:08:34,560 FOR THIS, DEVELOPING THERAPEUTICS 5003 03:08:34,560 --> 03:08:36,240 PLATFORM BASED 5004 03:08:36,240 --> 03:08:38,760 VIRUS OR AAV ADENOASSOCIATION. 5005 03:08:38,760 --> 03:08:40,520 WHICH IS A SIMPLE LITTLE VIRUS 5006 03:08:40,520 --> 03:08:42,760 WHICH HAS INFECTED MANY OF US 5007 03:08:42,760 --> 03:08:45,240 IT'S AFFECTED BY ITSELF 5008 03:08:45,240 --> 03:08:47,120 DOES NOT CAUSE HUMAN DISEASE. 5009 03:08:47,120 --> 03:08:50,320 SO, DO AAV GENE THERAPY 5010 03:08:50,320 --> 03:08:52,480 TAKE THE VIRAL GENE OUT AND PUT IT IN 5011 03:08:52,480 --> 03:08:53,840 DEEP HUMAN THERAPEUTIC GENES, 5012 03:08:53,840 --> 03:08:55,360 THAT'S HOW YOU DEVELOP THERAPY 5013 03:08:55,360 --> 03:08:57,520 FOR INDIVIDUAL DISEASES. SO YOU 5014 03:08:57,520 --> 03:08:59,520 CAN SEE THIS TYPE OF PLATFORM. 5015 03:08:59,520 --> 03:09:00,560 ANOTHER WAY WE WANT TO THINK 5016 03:09:00,560 --> 03:09:02,280 ABOUT AAV IS ITS TYPES 5017 03:09:02,280 --> 03:09:05,680 LIKE THE SHIPPING BOX FOR 5018 03:09:05,680 --> 03:09:08,080 THERAPEUTIC GENE BUT THAT BOX 5019 03:09:08,080 --> 03:09:10,080 DIFFERENT, DIFFERENT TASTE 5020 03:09:10,080 --> 03:09:12,280 IMPORTANTLY INTENDED TO 5021 03:09:12,280 --> 03:09:14,320 GO TO A PARTICULAR CELL AND NETWORK. 5022 03:09:14,320 --> 03:09:15,800 OR CERTAIN CELLS OF A TISSUE. 5023 03:09:15,800 --> 03:09:16,680 THEY DON'T HAVE TO DO IT 5024 03:09:16,680 --> 03:09:18,000 BE ONE, IN SOME CASES MORE THAN 5025 03:09:18,000 --> 03:09:22,760 ONE. VERY SPECIAL SHIPPING BOX 5026 03:09:22,760 --> 03:09:25,480 CAN BE USED FOR ANY DISEASES 5027 03:09:25,480 --> 03:09:26,120 AFFECTS MUSCLES AND 5028 03:09:26,120 --> 03:09:32,640 HEART. PRINCIPLES THAT SHOULD BE USED 5029 03:09:32,640 --> 03:09:33,840 TO TREAT SOME DISEASES 5030 03:09:33,840 --> 03:09:35,720 WHICH AFFECTS THE MUSCLES AND SOME 5031 03:09:35,720 --> 03:09:36,920 AFFECTS THE HEART. THIS WILL HAPPEN 5032 03:09:36,920 --> 03:09:39,600 A DIFFERENT WAY OF THINKING 5033 03:09:39,600 --> 03:09:40,280 ABOUT ONE CLINICAL TRIAL 5034 03:09:40,280 --> 03:09:42,600 WHAT A DISEASE. SO BE BASED 5035 03:09:42,600 --> 03:09:44,680 THIS, WE HAVE DEVELOPED 5036 03:09:44,680 --> 03:09:47,880 GENES VECTOR PLATFORM 5037 03:09:47,880 --> 03:09:49,680 GENE THERAPY WORKS WITH 5038 03:09:49,680 --> 03:09:51,880 COLLEAGUES IN ORDER TOO 5039 03:09:51,880 --> 03:09:55,360 AS NHGRI AND NINDS. WE THINK 5040 03:09:55,360 --> 03:09:57,840 THIS IS A PUBLIC PLATFORM VECTOR 5041 03:09:57,840 --> 03:09:59,760 GENE THERAPY TRIAL 5042 03:09:59,760 --> 03:10:01,880 ADVANCE WITH GENE THERAPY FOR 5043 03:10:01,880 --> 03:10:04,640 FOUR USING GENETIC DISEASES 5044 03:10:04,640 --> 03:10:06,920 THE SAME AAV VECTOR, WHICH WE ARE 5045 03:10:06,920 --> 03:10:09,160 USING IS, AAV 9 AND THE SAME ROUTE 5046 03:10:09,160 --> 03:10:13,720 ADMINISTRATION. IMPORTANT 5047 03:10:13,720 --> 03:10:16,760 PURIFICATION OF THE SAME PRODUCTION 5048 03:10:16,760 --> 03:10:18,240 THE METHOD IS EVERYTHING THE SAME 5049 03:10:18,240 --> 03:10:20,640 EXCEPT CHANGE THERAPY 5050 03:10:20,640 --> 03:10:22,480 INFORMATION IN THE AAV GENE 5051 03:10:22,480 --> 03:10:27,480 THERAPY. SO REALLY EXPLORE HOW 5052 03:10:27,480 --> 03:10:29,240 THERE'S A LOT WE CAN IMPROVE 5053 03:10:29,240 --> 03:10:30,080 CLINICAL EFFICIENCY 5054 03:10:30,080 --> 03:10:33,520 TRIAL STARTUP PROCESS. BY USE 5055 03:10:33,520 --> 03:10:35,280 THIS PLATFORM IS EXPLICIT FROM 5056 03:10:35,280 --> 03:10:36,880 VERY EARLY. I THINK THE KEY 5057 03:10:36,880 --> 03:10:38,520 PART OF WHAT WE DO HERE 5058 03:10:38,520 --> 03:10:42,080 THE ONE WHO MAKES A UNIQUE EFFORT IS US 5059 03:10:42,080 --> 03:10:44,360 PLAN TO CREATE PROJECT RESULTS 5060 03:10:44,360 --> 03:10:46,040 INCLUDING COMMUNICATIONS TO FDA 5061 03:10:46,040 --> 03:10:48,840 GENERALLY AVAILABLE. SO ANOTHER 5062 03:10:48,840 --> 03:10:50,720 CAN SEE HOW WE TRY 5063 03:10:50,720 --> 03:10:54,160 DEVELOP THIS OUTLINE FURTHER 5064 03:10:54,160 --> 03:10:58,880 EFFICIENT AND REGULATORY PATHWAYS 5065 03:10:58,880 --> 03:11:01,400 ACTUALLY USE SOME DOCUMENTS 5066 03:11:01,400 --> 03:11:02,240 FOR OTHER DISEASES WHEN YOU GO 5067 03:11:02,240 --> 03:11:04,240 TO THE FDA WITH THE GENES 5068 03:11:04,240 --> 03:11:09,640 PROPOSED THERAPY. ACTIVE PROGRESS 5069 03:11:09,640 --> 03:11:12,840 THIS IDENTIFIES THE LEAD 5070 03:11:12,840 --> 03:11:15,240 CANDIDATE, HPCCA, WHO TO 5071 03:11:15,240 --> 03:11:18,440 TREATING RARE METABOLIC DISEASES 5072 03:11:18,440 --> 03:11:20,800 APPROPRIATE PHREIONIC ACIDEMIA. 5073 03:11:20,800 --> 03:11:24,360 WORKING WITH CHUCK FROM NHGRI. 5074 03:11:24,360 --> 03:11:26,800 WE ACCEPT FDA ORPHAN DRUGS 5075 03:11:26,800 --> 03:11:29,600 APPOINTMENT IN OCTOBER 2021. 5076 03:11:29,600 --> 03:11:31,760 WE ARE IN THE PROCESS OF WRITING 5077 03:11:31,760 --> 03:11:33,880 PAPER AND ITS MANUFACTURING 5078 03:11:33,880 --> 03:11:35,640 APPOINTMENT SUBMISSION DOCUMENTS 5079 03:11:35,640 --> 03:11:37,840 PUBLIC AND PROCESS. WE HAVE 5080 03:11:37,840 --> 03:11:40,480 INTERACTION MEETINGS WITH FDA 5081 03:11:40,480 --> 03:11:41,800 CBER IN JULY AND MANUFACTURING PLANS 5082 03:11:41,800 --> 03:11:43,120 DOCUMENTS AND RESULTS FROM THEM 5083 03:11:43,120 --> 03:11:45,280 GENERAL TOO. AND I WILL 5084 03:11:45,280 --> 03:11:46,840 CONTINUE PROGRESS WITH OTHERS 5085 03:11:46,840 --> 03:11:48,640 ASPECTS OF THE PAGT AND PROGRAM 5086 03:11:48,640 --> 03:11:51,160 YOU CAN FOLLOW ALL THE PROGRESS 5087 03:11:51,160 --> 03:11:56,280 IT IS DISPLAYED ON THIS WEBSITE 5088 03:11:56,280 --> 03:11:58,880 HERE. SOME EFFORTS ARE RELATED 5089 03:11:58,880 --> 03:12:01,680 IT HAS ALREADY BEEN GOING ON AT LEAST 5090 03:12:01,680 --> 03:12:03,160 GENERAL PURPOSE PROVISIONS 5091 03:12:03,160 --> 03:12:04,840 INCREASING AAV EFFICIENCY 5092 03:12:04,840 --> 03:12:07,040 GENE THERAPY, CALLED B 5093 03:12:07,040 --> 03:12:09,080 SPEECH GENE THERAPY CONSORTIUM, 5094 03:12:09,080 --> 03:12:12,920 That DR. TABAK AND DR. RUTTER 5095 03:12:12,920 --> 03:12:15,440 MENTIONED PREVIOUSLY, BGTC, 5096 03:12:15,440 --> 03:12:17,880 IT WAS ORGANIZED BY 5097 03:12:17,880 --> 03:12:21,200 FOUNDATION FOR NIH. THIS A 5098 03:12:21,200 --> 03:12:22,880 PUBLIC PRIVATE PARTNERSHIP 5099 03:12:22,880 --> 03:12:24,080 INVOLVES MULTIPLE THINGS 5100 03:12:24,080 --> 03:12:27,080 INSTITUTES AND CENTERS. ALSO 5101 03:12:27,080 --> 03:12:28,240 AS A PHARMACY COMPANY 5102 03:12:28,240 --> 03:12:30,440 PARTNER AND NON-PROFIT 5103 03:12:30,440 --> 03:12:33,360 ENTITY. THERE ARE TWO 5104 03:12:33,360 --> 03:12:36,000 BGTC COMPONENTS. ONE FOCUS 5105 03:12:36,000 --> 03:12:39,200 ABOUT BASIC BIOLOGY LEARNING 5106 03:12:39,200 --> 03:12:40,640 AAV, SO ABLE 5107 03:12:40,640 --> 03:12:42,640 INCREASING EFFICIENCY 5108 03:12:42,640 --> 03:12:45,840 PRODUCING GENE THERAPY VECTORS, 5109 03:12:45,840 --> 03:12:48,640 FOR CLINICAL AND SPECIAL USE 5110 03:12:48,640 --> 03:12:50,880 INCREASING THE THERAPEUTIC IMPACT OF 5111 03:12:50,880 --> 03:12:52,440 AAV GENE THERAPY, EVERYTHING 5112 03:12:52,440 --> 03:12:54,080 DESIGNED TO MAKE THE WHOLE 5113 03:12:54,080 --> 03:12:55,680 FASTER AND MORE EASY PROCESS 5114 03:12:55,680 --> 03:13:00,160 EFFICIENT. THERE'S A BIG ONE 5115 03:13:00,160 --> 03:13:01,880 CLINICAL COMPONENTS OF BGTC 5116 03:13:01,880 --> 03:13:04,480 WHICH FOCUS ON INCREASING AAV 5117 03:13:04,480 --> 03:13:06,480 TECHNOLOGY AND VECTORS FOR 5118 03:13:06,480 --> 03:13:10,320 CLINICAL APPLICATIONS. SO TO 5119 03:13:10,320 --> 03:13:13,880 THIS IS OUR PLAN TO IDENTIFY BETWEEN 5120 03:13:13,880 --> 03:13:15,640 THREE AND SIX DISEASES TO MOVE 5121 03:13:15,640 --> 03:13:16,880 FORWARD IN PARALLEL FASHION 5122 03:13:16,880 --> 03:13:20,640 WITH THE IDEA OF STREAMLINING 5123 03:13:20,640 --> 03:13:23,400 AND HARMONIZING LIKE THINGS 5124 03:13:23,400 --> 03:13:24,440 THERAPEUTIC MANUFACTURING AND 5125 03:13:24,440 --> 03:13:29,280 HOW WE TESTING THERAPEUTICS 5126 03:13:29,280 --> 03:13:31,520 MADE, ANALYTICAL TESTS USED, THE 5127 03:13:31,520 --> 03:13:35,000 TOXICOLOGY PACKAGE PERFORMED. 5128 03:13:35,000 --> 03:13:37,080 PURPOSE, PURPOSE OF EVERYTHING 5129 03:13:37,080 --> 03:13:38,680 IT IS TO SLIM THE EGGS 5130 03:13:38,680 --> 03:13:39,920 EFFICIENCY PATHWAYS AND IMPROVEMENTS 5131 03:13:39,920 --> 03:13:42,280 TO GET THIS THERAPY 5132 03:13:42,280 --> 03:13:45,720 PATIENT. WHAT IS IMPORTANT IS THE FOCUS 5133 03:13:45,720 --> 03:13:49,120 GENE B SPOKE THERAPY 5134 03:13:49,120 --> 03:13:52,040 CONSORTIUM THERE IS DISEASE NO 5135 03:13:52,040 --> 03:13:53,680 COMMERCIAL INTEREST IS BECAUSE IT'S LOW 5136 03:13:53,680 --> 03:13:55,120 PREVALENCE. THAT'S US 5137 03:13:55,120 --> 03:13:56,880 ABLE TO DESIGN THIS PROGRAM AND 5138 03:13:56,880 --> 03:13:58,840 MAKE IT PRE-COMPETITIVE 5139 03:13:58,840 --> 03:14:01,920 SPACE AND PARTICIPATION 5140 03:14:01,920 --> 03:14:03,760 DIFFERENT PHARMACY 5141 03:14:03,760 --> 03:14:05,520 A VALUABLE COMPANY FOR 5142 03:14:05,520 --> 03:14:07,640 THIS ATTEMPT. YOU CAN FOLLOW 5143 03:14:07,640 --> 03:14:09,320 AS WELL AS THE ABOVE PROGRESS 5144 03:14:09,320 --> 03:14:13,080 WEBSITES ARE SEEN BELOW. OF COURSE 5145 03:14:13,080 --> 03:14:15,600 FOR SINGLE GENE DISORDERS, AT 5146 03:14:15,600 --> 03:14:17,640 AT LEAST NOT AT THE BEGINNING BUT POSSIBLE 5147 03:14:17,640 --> 03:14:19,560 FOR MORE COMMON DISORDERS, TOO 5148 03:14:19,560 --> 03:14:25,200 BUT ESPECIALLY FOR SINGLE GENES 5149 03:14:25,200 --> 03:14:27,240 DISTURBANCE, A REAL PLATFORM 5150 03:14:27,240 --> 03:14:28,800 THERAPEUTIC STRATEGIES WILL 5151 03:14:28,800 --> 03:14:30,280 USE AN ENZYME THAT WILL 5152 03:14:30,280 --> 03:14:32,360 CELLS AND REPAIR DNA 5153 03:14:32,360 --> 03:14:32,920 ABNORMALITIES IN INDIVIDUALS 5154 03:14:32,920 --> 03:14:35,800 CELL. SO NOT ENTERING 5155 03:14:35,800 --> 03:14:37,880 ACTIVE COPY OF LOST GENE 5156 03:14:37,880 --> 03:14:40,040 ACTUALLY GO IN AND FIX IT 5157 03:14:40,040 --> 03:14:44,120 OWN GENE, THIS CAN BE DONE 5158 03:14:44,120 --> 03:14:45,480 SHOWN SEVERAL USES 5159 03:14:45,480 --> 03:14:47,840 GEN EDIT PROCESS. 5160 03:14:47,840 --> 03:14:50,720 THE MOST CRISPER CAS 9 5161 03:14:50,720 --> 03:14:51,960 A FAMILY FORM BUT THERE ARE OTHERS 5162 03:14:51,960 --> 03:14:54,000 HOW TO PERFORM GENOME EDIT. YOU 5163 03:14:54,000 --> 03:14:56,840 LISTEN TO LAST YEAR'S TALK 5164 03:14:56,840 --> 03:15:00,600 JENNIFER DOWD WHO WON THE NOBEL 5165 03:15:00,600 --> 03:15:01,720 REWARD TO IDENTIFY 5166 03:15:01,720 --> 03:15:04,880 CRISPER 9 CAS SYSTEM. BASED ON 5167 03:15:04,880 --> 03:15:06,440 THE GENERAL FUND IS DECIDED 5168 03:15:06,440 --> 03:15:08,800 SET UP A NEW PROGRAM ON SOMATIC 5169 03:15:08,800 --> 03:15:11,520 CELL GENOME EDITING. REALLY 5170 03:15:11,520 --> 03:15:15,040 DEVELOP TOOLS AND TECHNOLOGY 5171 03:15:15,040 --> 03:15:17,360 TO ACCELERATE GENOME PROGRESS 5172 03:15:17,360 --> 03:15:20,920 EDITING TO THE CLINIC. AND WE HAVE 5173 03:15:20,920 --> 03:15:23,400 HAS BEEN PRIVILEGED AT NIH NCATS TO 5174 03:15:23,400 --> 03:15:24,880 BECOME ONE OF THE LEADERS AND 5175 03:15:24,880 --> 03:15:26,000 PROGRAM COORDINATOR 5176 03:15:26,000 --> 03:15:28,320 WORKING WITH NINDS AND MANY OF 5177 03:15:28,320 --> 03:15:31,600 OUR OTHER COLLEAGUES. AND 5178 03:15:31,600 --> 03:15:34,920 ONE OF MANY DISCOVERIES AND 5179 03:15:34,920 --> 03:15:36,280 PUBLICATIONS THAT ARE OUT OF 5180 03:15:36,280 --> 03:15:40,080 THIS IS WHO DAVID LU'S JOB IS 5181 03:15:40,080 --> 03:15:41,880 GROUP-DEVELOPED PRIME EDITING. 5182 03:15:41,880 --> 03:15:46,080 THE MAIN EDITORIAL ENZYME IS A 5183 03:15:46,080 --> 03:15:47,760 WHICH GENOME EDITOR ENZYMES 5184 03:15:47,760 --> 03:15:52,080 IT COULD GO INTO THE CELLS 5185 03:15:52,080 --> 03:15:53,520 DIFFERENT TYPES OF MUTATIONS 5186 03:15:53,520 --> 03:15:58,000 AND IT WAS DESIGNED THAT WAY 5187 03:15:58,000 --> 03:16:03,000 IT CAN BE IN A SINGLE EDITOR'S PRINCIPLE 5188 03:16:03,000 --> 03:16:05,360 CORRECT ENZYMES ALMOST 90% OF 5189 03:16:05,360 --> 03:16:06,840 HUMAN DISEASES CAUSE MUTATIONS 5190 03:16:06,840 --> 03:16:08,120 SO IT'S VERY CLEAR THERAPY 5191 03:16:08,120 --> 03:16:12,640 PLATFORM P ONE THAT HAS EXTENSIVE 5192 03:16:12,640 --> 03:16:14,880 IMPLICATIONS FOR MONOGENICS 5193 03:16:14,880 --> 03:16:16,720 DISEASES AND MORE IN THE FUTURE 5194 03:16:16,720 --> 03:16:21,120 COMMON DISEASES TOO. LIKE US 5195 03:16:21,120 --> 03:16:22,280 THINK ABOUT THE NEXT PHASE 5196 03:16:22,280 --> 03:16:24,640 OUR GENERAL FUND PROGRAM 5197 03:16:24,640 --> 03:16:25,960 PROPOSED SECOND PHASE SHOWN 5198 03:16:25,960 --> 03:16:29,560 HERE, SEE PHASE 2 PRESENTED 5199 03:16:29,560 --> 03:16:32,640 NIH AND COUNCIL 5200 03:16:32,640 --> 03:16:34,360 IT WAS APPROVED SO WE PLAN TO 5201 03:16:34,360 --> 03:16:37,840 CONTINUE PHASE 2. SCEG 5202 03:16:37,840 --> 03:16:39,240 PROGRAM, I WANT TO MENTION HERE 5203 03:16:39,240 --> 03:16:41,080 DUE TO ONE OF THE COMPONENTS 5204 03:16:41,080 --> 03:16:42,280 THIS IS THE PROGRAM WE HAVE 5205 03:16:42,280 --> 03:16:44,280 THE PROPOSAL IS TO SUPPORT 5206 03:16:44,280 --> 03:16:46,480 COMING CLINICAL TRIALS 5207 03:16:46,480 --> 03:16:47,440 NEED TO DO MORE THAN ONE 5208 03:16:47,440 --> 03:16:51,280 WHAT A DISEASE. ABSOLUTELY FOR 5209 03:16:51,280 --> 03:16:52,640 DEVELOP GENOME EDITING IS POSSIBLE 5210 03:16:52,640 --> 03:16:54,480 USING ANOTHER PRIME EDITOR 5211 03:16:54,480 --> 03:16:55,920 SECOND GENERATION TYPE 5212 03:16:55,920 --> 03:16:59,640 GENOME EDITOR, DEVELOP 5213 03:16:59,640 --> 03:17:00,880 THERAPEUTIC PLATFORMS AS FIGHTED 5214 03:17:00,880 --> 03:17:04,080 FOR ONE DISEASE AT A TIME METHOD. 5215 03:17:04,080 --> 03:17:05,520 BECAUSE THAT'S WHERE WE THINK 5216 03:17:05,520 --> 03:17:07,240 WE CAN HAVE THE BIGGEST IMPACT. US 5217 03:17:07,240 --> 03:17:09,040 NOT UNTIL THE CONDITIONS YET 5218 03:17:09,040 --> 03:17:12,080 OFFICIALLY LAUNCHING 5219 03:17:12,080 --> 03:17:13,800 PROGRAM BUT WATCH THIS SPACE 5220 03:17:13,800 --> 03:17:18,200 FUTURE DEVELOPMENTS HERE. 5221 03:17:18,200 --> 03:17:19,120 FINALLY WE'RE STARTING TO THINK 5222 03:17:19,120 --> 03:17:21,480 ABOUT THIS NEW THERAPEUTIC 5223 03:17:21,480 --> 03:17:25,480 APPROACHES LIKE GENE TARGET 5224 03:17:25,480 --> 03:17:27,280 THERAPY, OF ANY KIND I'VE BEEN 5225 03:17:27,280 --> 03:17:28,280 TALK ABOUT IT NO 5226 03:17:28,280 --> 03:17:29,480 TREATMENT OF SPECIFIC DISEASES 5227 03:17:29,480 --> 03:17:31,480 BUT THEY ARE A WIDE THERAPEUTIC 5228 03:17:31,480 --> 03:17:34,040 PLATFORMS. PRINCIPLES THAT CAN 5229 03:17:34,040 --> 03:17:36,880 TREATS MANY DISEASES. IT HAS BEEN 5230 03:17:36,880 --> 03:17:38,520 IMPLICATIONS ARE NOT JUST FOR 5231 03:17:38,520 --> 03:17:39,760 CERTAIN CLINICAL TRIALS, BUT 5232 03:17:39,760 --> 03:17:41,640 EVEN MORE EXTENDED PROVISIONS 5233 03:17:41,640 --> 03:17:45,080 THINGS LIKE DIAGNOSATING DISEASES. 5234 03:17:45,080 --> 03:17:47,200 MORE GENERAL TO OUR SYSTEM BUT 5235 03:17:47,200 --> 03:17:50,840 WHAT DO WE THINK AS A DISEASE. 5236 03:17:50,840 --> 03:17:51,880 RETURN AS AN IMPLICATION FOR 5237 03:17:51,880 --> 03:17:53,960 IDENTIFY ALL PATIENTS 5238 03:17:53,960 --> 03:17:55,640 IT IS POSSIBLE TO BENEFIT FROM TARGETED GENES 5239 03:17:55,640 --> 03:17:57,000 THERAPY BECAUSE AGAIN, THAT'S IT 5240 03:17:57,000 --> 03:17:58,920 MORE THAN MOST DISEASES. 5241 03:17:58,920 --> 03:18:01,800 SO IT'S REALLY GONNA BE HARKEN 5242 03:18:01,800 --> 03:18:03,680 A DIFFERENT WAY OF THINKING 5243 03:18:03,680 --> 03:18:05,680 ABOUT WHAT THE DISEASE IS, HOW TO TREAT IT 5244 03:18:05,680 --> 03:18:07,480 WE IDENTIFY PATIENTS WITH 5245 03:18:07,480 --> 03:18:10,000 DISEASES AND GET THEM 5246 03:18:10,000 --> 03:18:11,000 CLINICAL TRIALS. VERY DIFFERENT 5247 03:18:11,000 --> 03:18:15,080 THE WAY OF THINKING THAT WE DO TODAY. 5248 03:18:15,080 --> 03:18:16,440 SO BACK IN THE SUMMER WE HAD A 5249 03:18:16,440 --> 03:18:18,000 MEETING ON THE TOPIC OF GENE TARGET 5250 03:18:18,000 --> 03:18:22,200 THERAPY. EXPLORE 5251 03:18:22,200 --> 03:18:24,560 STRATEGIES TO DIAGNOSE EVERYTHING 5252 03:18:24,560 --> 03:18:25,800 PARENTS MAY BENEFIT FROM IT 5253 03:18:25,800 --> 03:18:27,840 GENE TARGET THERAPY INCLUDES 5254 03:18:27,840 --> 03:18:29,840 NEWBORN AND OVERALL EXAMINATION 5255 03:18:29,840 --> 03:18:31,080 GENOME SEQUENCE AND 5256 03:18:31,080 --> 03:18:33,720 THE IMPLICATIONS OF THAT. i 5257 03:18:33,720 --> 03:18:35,320 ENCOURAGE YOU TO SEE IT, 5258 03:18:35,320 --> 03:18:38,640 STILL AVAILABLE HERE 5259 03:18:38,640 --> 03:18:40,200 WEBCAST SITE AND ITS WORK 5260 03:18:40,200 --> 03:18:41,880 WHITE REMARKS AND PUBLICATIONS. 5261 03:18:41,880 --> 03:18:43,600 IMPLICATIONS OF THIS 5262 03:18:43,600 --> 03:18:45,080 THE COURSE IS MUCH MORE THAN WHAT 5263 03:18:45,080 --> 03:18:46,440 OK, OUR ROLE IS HERE 5264 03:18:46,440 --> 03:18:48,360 REALLY TO DO DIFFERENTLY 5265 03:18:48,360 --> 03:18:50,800 STAKEHOLDERS AND STARTING A 5266 03:18:50,800 --> 03:18:51,840 POSSIBLE CONVERSATIONS 5267 03:18:51,840 --> 03:18:52,880 IN THE END, THIS CHANGE IS BROAD 5268 03:18:52,880 --> 03:18:57,840 PROBLEM. SO WITH THAT, I'M GOING 5269 03:18:57,840 --> 03:19:00,480 TO STOP AND GIVE IT TO ME 5270 03:19:00,480 --> 03:19:02,240 AINSLIE TINSDALE COLLEAGUE WHO 5271 03:19:02,240 --> 03:19:03,920 WILL START THE NEXT SESSION WITH 5272 03:19:03,920 --> 03:19:05,280 A PARTICULAR FOCUS ON SOMETHING 5273 03:19:05,280 --> 03:19:07,720 WE'VE THINK OF IT TOO 5274 03:19:07,720 --> 03:19:09,080 IN THE RARE DISEASES ROOM ABOVE 5275 03:19:09,080 --> 03:19:10,400 LAST YEAR, NOT JUST US BUT 5276 03:19:10,400 --> 03:19:12,040 OTHERS THAT ARE RARE 5277 03:19:12,040 --> 03:19:33,560 DISEASES IN OUR MEDICAL SYSTEM. 5278 03:19:33,560 --> 03:19:36,680 >> THANK YOU, PJ, HELLO. I HAVE 5279 03:19:36,680 --> 03:19:37,880 HOPE YOU ENJOY RARE 5280 03:19:37,880 --> 03:19:38,880 DAY OF DISEASES IN THIS SO FAR. i 5281 03:19:38,880 --> 03:19:40,680 WILL SHIRR ABOUT IDEAS 5282 03:19:40,680 --> 03:19:42,280 INITIATIVES AT NCATS AND OTHERS 5283 03:19:42,280 --> 03:19:43,480 PARTICULARLY ABOUT THE PILOT STUDY 5284 03:19:43,480 --> 03:19:44,560 WHICH WAS PUBLISHED A FEW MONTHS 5285 03:19:44,560 --> 03:19:48,480 THEN. THE IDEA STANDS FOR IMPACT 5286 03:19:48,480 --> 03:19:50,640 RARE DISEASES IN PATIENTS AND 5287 03:19:50,640 --> 03:19:52,640 HEALTH CARE SYSTEM. PILOTS 5288 03:19:52,640 --> 03:19:54,000 LEARNING IS OUR FIRST 5289 03:19:54,000 --> 03:19:55,320 COLLABORATION EFFORTS IN THIS MATTER 5290 03:19:55,320 --> 03:19:58,280 LARGER SCALE INITIATIVES. IT 5291 03:19:58,280 --> 03:20:01,080 THE IDEA PILOT STUDY IS A 5292 03:20:01,080 --> 03:20:05,120 COLLABORATION BETWEEN OREGON NCATS 5293 03:20:05,120 --> 03:20:06,400 UNIVERSITY OF HEALTH AND SCIENCES, 5294 03:20:06,400 --> 03:20:10,160 UNIVERSITY OF COLORADO, SANFORD 5295 03:20:10,160 --> 03:20:11,360 HEALTH SCIENCE AND LIVING WITH 5296 03:20:11,360 --> 03:20:13,400 MAIN PURPOSE OF 5297 03:20:13,400 --> 03:20:14,640 MEASURE AND QUALIFY 5298 03:20:14,640 --> 03:20:18,400 DISEASE BURDEN OF RARE DISEASES. 5299 03:20:18,400 --> 03:20:20,000 THIS IS A SCREEN CAPTURE FROM 5300 03:20:20,000 --> 03:20:22,240 THE PAPER IS PUBLISHED IN OCTOBER 5301 03:20:22,240 --> 03:20:23,280 RARE ORTHO NET JOURNAL 5302 03:20:23,280 --> 03:20:26,520 DISEASE. THERE IS 5303 03:20:26,520 --> 03:20:28,960 THE COLLABORATIONS WE USE FOUR 5304 03:20:28,960 --> 03:20:30,520 HEALTH CARE SYSTEMS REPRESENTATIVE 5305 03:20:30,520 --> 03:20:32,720 DIFFERENT GEOGRAPHIC AREAS 5306 03:20:32,720 --> 03:20:33,840 TYPES OF INSURANCE AND GENERAL 5307 03:20:33,840 --> 03:20:36,320 PATIENT POPULATION. THIS 5308 03:20:36,320 --> 03:20:38,680 THE SYSTEM IS DONE TO IDENTIFY 5309 03:20:38,680 --> 03:20:41,560 PATIENT GROUPS FOR DIVERSE SETS 5310 03:20:41,560 --> 03:20:43,600 FROM 14 VARIOUS RARE DISEASES 5311 03:20:43,600 --> 03:20:46,120 IN CARE OF SPECIFIC AGE 5312 03:20:46,120 --> 03:20:47,280 BEGINNING, THE SYSTEM AFFECTS AND 5313 03:20:47,280 --> 03:20:49,320 EXPECTED PREVALENCE. THEN TO 5314 03:20:49,320 --> 03:20:51,360 IDENTIFIED GROUPS, LIVE 5315 03:20:51,360 --> 03:20:52,800 MEDICAL COSTS HAVE BEEN ESTIMATED 5316 03:20:52,800 --> 03:20:55,600 USING DATABASE BILLING 5317 03:20:55,600 --> 03:20:57,200 NOTES AND FINISHING 5318 03:20:57,200 --> 03:20:58,880 THE DIAGNOSTIC ODYSSEY IS 5319 03:20:58,880 --> 03:21:02,480 QUANTIFIED AND EXPLAINED FOR 5320 03:21:02,480 --> 03:21:03,520 PATIENTS DISAPPEAR NATURALLY 5321 03:21:03,520 --> 03:21:05,640 HISTORY. MAIN FINDINGS FOR 5322 03:21:05,640 --> 03:21:08,480 THIS STUDY IS THE FIRST ONE 5323 03:21:08,480 --> 03:21:10,040 HARD TO FIND RARE 5324 03:21:10,040 --> 03:21:11,680 INTERNAL MEDICINE PATIENTS 5325 03:21:11,680 --> 03:21:15,880 HEALTH CARE SYSTEM. SINCE MA 5326 03:21:15,880 --> 03:21:17,800 JOE -- THE MAJORITY LESS SPECIAL 5327 03:21:17,800 --> 03:21:19,480 DIAGNOSTIC CODES. WE FOUND 5328 03:21:19,480 --> 03:21:21,520 AVERAGE OF 14 RARE PILOTS 5329 03:21:21,520 --> 03:21:22,960 DISEASES SHOW HIGHER 5330 03:21:22,960 --> 03:21:24,320 PREVALENCE LEVEL THAN BEFORE 5331 03:21:24,320 --> 03:21:26,600 SEEN IN MEDICAL LITERATURE 5332 03:21:26,600 --> 03:21:29,280 ACROSS FOUR HEALTHCARE 5333 03:21:29,280 --> 03:21:30,880 SYSTEM. THIS MEANS OFTEN 5334 03:21:30,880 --> 03:21:32,200 THE PREVALENCE FIGURES QUOTED ARE 5335 03:21:32,200 --> 03:21:34,640 THE POSSIBILITIES ARE UNDERESTIMATE 5336 03:21:34,640 --> 03:21:38,320 TRUE RARE DISEASES POPULATIONS. 5337 03:21:38,320 --> 03:21:39,640 SECOND DIRECT MEDICAL COSTS 5338 03:21:39,640 --> 03:21:41,880 VERY RARE DISEASE. 5339 03:21:41,880 --> 03:21:44,480 THREE TO FIVE TIMES HIGHER THAN 5340 03:21:44,480 --> 03:21:46,360 NON-RARE PATIENTS. IF WE 5341 03:21:46,360 --> 03:21:48,680 EXTRAPOLATION OF DIRECT MEDICAL COSTS 5342 03:21:48,680 --> 03:21:51,520 ESTIMATED IN THIS RESEARCH 5343 03:21:51,520 --> 03:21:52,880 APPROXIMATELY 25 TO 30 MILLION 5344 03:21:52,880 --> 03:21:54,760 PATIENTS WITH RARE DISEASES IN 5345 03:21:54,760 --> 03:21:57,240 UNITED STATES CHARGES 5346 03:21:57,240 --> 03:21:59,720 HEALTH CARE SYSTEMS ARE $400 5347 03:21:59,720 --> 03:22:02,480 BILLIONS A YEAR. THIRD, THAT 5348 03:22:02,480 --> 03:22:04,560 THE DIAGNOSTIC ODYSSEY IS REAL AND 5349 03:22:04,560 --> 03:22:07,160 EXTENDED. THE RESULTS ARE DEEP 5350 03:22:07,160 --> 03:22:08,480 COMPLICATIONS THAT CANNOT BE CHANGED FROM 5351 03:22:08,480 --> 03:22:11,240 DISEASES AND VERY HIGH COSTS 5352 03:22:11,240 --> 03:22:12,920 CARE. AS DESCRIBED INSIDE 5353 03:22:12,920 --> 03:22:14,960 PILOT STUDY DIAGNOSTIC TRAVEL 5354 03:22:14,960 --> 03:22:18,280 MAP IN TWO HIGH COST CYSTIES 5355 03:22:18,280 --> 03:22:19,760 FIBROSIS PATIENTS SHOW 5356 03:22:19,760 --> 03:22:21,680 EARLY DRASTIC DIFFERENCES 5357 03:22:21,680 --> 03:22:22,640 DIAGNOSIS AND TREATMENT IS POSSIBLE 5358 03:22:22,640 --> 03:22:26,040 MAKE. WITH INITIAL DIAGNOSIS 5359 03:22:26,040 --> 03:22:28,600 CF PATIENTS WHO ARE TREATMENT COSTLY 5360 03:22:28,600 --> 03:22:31,200 HEALTH SYSTEM ALMOST 50% 5361 03:22:31,200 --> 03:22:34,240 LESS OF DELAYED DIAGNOSIS AND 5362 03:22:34,240 --> 03:22:36,160 UNTREATED PATIENTS. THESE RESULTS 5363 03:22:36,160 --> 03:22:38,000 ADVISE MACHINE NEEDS 5364 03:22:38,000 --> 03:22:40,040 AID STRATEGIES FOR DIAGNOSIS 5365 03:22:40,040 --> 03:22:42,080 AND TREAT PATIENTS FASTER. THIS 5366 03:22:42,080 --> 03:22:43,440 POSSIBLE STRATEGIES AND THAT 5367 03:22:43,440 --> 03:22:46,920 THAT'S WHAT WE EXPLORE NEXT. 5368 03:22:46,920 --> 03:22:48,880 IF ANY ONE WAS TAKEN FROM 5369 03:22:48,880 --> 03:22:52,080 THIS STUDY, VERY RARE 5370 03:22:52,080 --> 03:22:55,280 DISEASES ARE GENERALLY EXPENSIVE AND 5371 03:22:55,280 --> 03:22:57,000 ACTIONABLE. WITH THE FUTURE 5372 03:22:57,000 --> 03:22:58,440 DEVELOPMENT AND MERGER 5373 03:22:58,440 --> 03:23:00,080 MACHINE LEARNING TOOLS THAT ARE POSSIBLE FOR US 5374 03:23:00,080 --> 03:23:02,080 ABLE TO GET MORE TREATMENT 5375 03:23:02,080 --> 03:23:04,600 FASTER PATIENTS. DISEASE 5376 03:23:04,600 --> 03:23:06,080 CHANGING THE TREATMENT IS NOT POSSIBLE 5377 03:23:06,080 --> 03:23:09,040 JUST A DESTRUCTIVE IMPACT 5378 03:23:09,040 --> 03:23:09,640 DISEASE DEVELOPMENT AND 5379 03:23:09,640 --> 03:23:11,800 LONG MAINTENANCE COSTS ARE HIGH, BUT 5380 03:23:11,800 --> 03:23:13,480 ALSO MAINTAIN QUALITY OF LIFE 5381 03:23:13,480 --> 03:23:15,880 AND DOES NOT BENEFIT PRODUCTIVITY 5382 03:23:15,880 --> 03:23:19,480 ONLY PATIENTS BUT AS SOCIETY 5383 03:23:19,480 --> 03:23:21,880 ALL OF OUR RARE DISEASES 5384 03:23:21,880 --> 03:23:23,360 PATIENT ADVOCATES AND 5385 03:23:23,360 --> 03:23:24,800 THE SUPERVISOR LISTENED TODAY, US 5386 03:23:24,800 --> 03:23:27,520 BYE TO YOU, WE HEAR YOU. WE HOPE 5387 03:23:27,520 --> 03:23:28,880 OUR INITIATIVES SHINE 5388 03:23:28,880 --> 03:23:31,240 BURDENS FACED BY YOU 5389 03:23:31,240 --> 03:23:33,240 COMMUNITY, DOWNSTREAM 5390 03:23:33,240 --> 03:23:34,720 MATERIAL BENEFITS OBTAINED 5391 03:23:34,720 --> 03:23:36,080 ACCURATE AND IMPROVED DIAGNOSES 5392 03:23:36,080 --> 03:23:41,880 CARE. IF YOU ARE INTERESTED 5393 03:23:41,880 --> 03:23:43,000 LEARN MORE ABOUT PIE WILL THE 5394 03:23:43,000 --> 03:23:44,240 STUDY OR OTHER EFFORTS 5395 03:23:44,240 --> 03:23:45,920 FALLING UNDER AN IDEA INITIATIVE 5396 03:23:45,920 --> 03:23:47,480 I ENCOURAGE YOU TO CHECK OUT 5397 03:23:47,480 --> 03:23:49,280 EXHIBITION OF RARE IDEAS 5398 03:23:49,280 --> 03:23:50,440 DISEASE DAY EVENT APPLICATION WHERE YOU ARE 5399 03:23:50,440 --> 03:23:52,920 YOU CAN FIND A LINK TO THE PAPER AND ME 5400 03:23:52,920 --> 03:23:55,480 OR MY COLLEAG CHRIST 5401 03:23:55,480 --> 03:23:56,360 PATELLA WILL BE GLAD TO ANSWER 5402 03:23:56,360 --> 03:23:57,000 YOUR QUESTION. THANK YOU 5403 03:23:57,000 --> 03:24:08,920 YOU. 5404 03:24:08,920 --> 03:24:11,400 >> HI, GOOD AFTERNOON. I'm Annie 5405 03:24:11,400 --> 03:24:13,000 KENNEDY, CHIEF POLICY 5406 03:24:13,000 --> 03:24:15,080 PATIENT ADVOCACY INVOLVEMENT IN 5407 03:24:15,080 --> 03:24:16,320 BASIS OF RARE DISEASES 5408 03:24:16,320 --> 03:24:18,880 AND I AM VERY THANKFUL TO THIS 5409 03:24:18,880 --> 03:24:20,920 INCLUDE ME HERE TODAY AND 5410 03:24:20,920 --> 03:24:21,880 HAPPY RARE DISEASES WEEK 5411 03:24:21,880 --> 03:24:23,400 EVERYONE. SO I'M HAPPY 5412 03:24:23,400 --> 03:24:25,280 TALK ABOUT OUR NATIONAL ECONOMY 5413 03:24:25,280 --> 03:24:26,960 BURDEN OF RARE DISEASES STUDY, 5414 03:24:26,960 --> 03:24:29,000 WHAT WE CAN DO TOGETHER 5415 03:24:29,000 --> 03:24:30,080 A VERY RARE DISEASE 5416 03:24:30,080 --> 03:24:31,600 COMMUNITY. AND MAYBE MANY 5417 03:24:31,600 --> 03:24:34,080 YOU ARE THE ONE HERE TODAY. AND me 5418 03:24:34,080 --> 03:24:35,920 LOVE TO PUT THIS IN CONTEXT 5419 03:24:35,920 --> 03:24:37,480 BECAUSE I KNOW WE LISTEN 5420 03:24:37,480 --> 03:24:38,440 CONCERNING EXISTING DATA 5421 03:24:38,440 --> 03:24:40,120 COLLECTED NOT JUST BY US LARGE 5422 03:24:40,120 --> 03:24:41,480 COMMUNITY BUT ALSO BY US 5423 03:24:41,480 --> 03:24:44,880 PARTNER AT NIH. AND RECENTLY US 5424 03:24:44,880 --> 03:24:47,760 PARTNERING WITH NIH AND SOME 5425 03:24:47,760 --> 03:24:48,800 OTHER PEOPLE KNITTING TOGETHER 5426 03:24:48,800 --> 03:24:50,080 FINDINGS FROM A NUMBER OF STUDIES 5427 03:24:50,080 --> 03:24:51,560 SO IT'S VERY IMPORTANT FOR US 5428 03:24:51,560 --> 03:24:52,920 TO UNDERSTAND WHY DOING ALL THIS 5429 03:24:52,920 --> 03:24:55,360 PROBLEM. SO WE COLLECT 5430 03:24:55,360 --> 03:24:56,880 THIS DATA IS FOR A NUMBER OF REASONS, 5431 03:24:56,880 --> 03:24:59,520 AND MOST OF US ARE HERE IN THIS SPACE 5432 03:24:59,520 --> 03:25:00,480 AND WATCHED TODAY ALREADY 5433 03:25:00,480 --> 03:25:03,360 THIS PART OF THE MOVEMENT IS CALLED 5434 03:25:03,360 --> 03:25:05,640 PATIENT-FOCUSED DRUG DEVELOPMENT 5435 03:25:05,640 --> 03:25:06,320 WHICH IN OTHER WORDS MEANS US 5436 03:25:06,320 --> 03:25:08,680 NEED GUARANTEES THAT WE ARE ALIVE 5437 03:25:08,680 --> 03:25:09,920 EXPERIENCE AS A MEMBER 5438 03:25:09,920 --> 03:25:12,720 RARE, IMPORTANT DISEASES COMMUNITIES. 5439 03:25:12,720 --> 03:25:14,560 THAT IT IS PART OF THE INFORMATION 5440 03:25:14,560 --> 03:25:17,120 CLINICAL TRIAL DESIGN, COLLECTED 5441 03:25:17,120 --> 03:25:20,120 IN REGISTRATION, IN FORMATION 5442 03:25:20,120 --> 03:25:22,480 REGULATORY DECISIONS, AS WE KNOW 5443 03:25:22,480 --> 03:25:24,080 A LOT OF THIS WORK HAPPENED 5444 03:25:24,080 --> 03:25:30,880 WITH F PDUFA 5 AND PDUFA 6 AND 5445 03:25:30,880 --> 03:25:32,880 NOW 7 REAUTHORIZATION 5446 03:25:32,880 --> 03:25:35,240 COSTS FOR USING PRESCRIPTION MEDICATIONS AND 5447 03:25:35,240 --> 03:25:36,640 THE DISCUSSION IS UNDERSTANDING 5448 03:25:36,640 --> 03:25:38,520 THAT'S THE PATIENT WAY 5449 03:25:38,520 --> 03:25:40,960 EXPERIENCE DATA IS COLLECTED IN 5450 03:25:40,960 --> 03:25:43,080 CLINICAL TRIALS ARE 5451 03:25:43,080 --> 03:25:46,640 ABSOLUTELY CENTRAL. AND IT BROKE 5452 03:25:46,640 --> 03:25:48,280 UNDER THAT, WHAT IT MEANS 5453 03:25:48,280 --> 03:25:50,520 WHEN THE FDA MAKES A DECISION ABOUT 5454 03:25:50,520 --> 03:25:52,400 TRIALS OR CLINICAL APPROVAL, 5455 03:25:52,400 --> 03:25:53,920 THERE ARE SOME LAWS 5456 03:25:53,920 --> 03:25:55,600 WHAT REQUIREMENTS DOES THE FDA THINK 5457 03:25:55,600 --> 03:25:58,040 ABOUT AND CONTEXT 5458 03:25:58,040 --> 03:25:59,080 THINK ABOUT THE PRODUCT. IT 5459 03:25:59,080 --> 03:26:00,760 HELP WITH CLINICAL TRIAL INFORMATION 5460 03:26:00,760 --> 03:26:03,600 WHAT WE DO. WITH THAT CONTEXT, 5461 03:26:03,600 --> 03:26:06,600 CATEGORIES, IF YOU WANT, ONE 5462 03:26:06,600 --> 03:26:09,600 FROM THESE DIFFERENT CATEGORIES 5463 03:26:09,600 --> 03:26:10,880 LIST OF DISEASE BURDEN AND 5464 03:26:10,880 --> 03:26:14,000 IMPACT ON PATIENTS' DAILY LIVES 5465 03:26:14,000 --> 03:26:17,640 SO BREAK FURTHER, TWO 5466 03:26:17,640 --> 03:26:19,640 CATEGORIES RELEVANT TO 5467 03:26:19,640 --> 03:26:23,040 BURDEN OR ECONOMIC IMPACT OF 5468 03:26:23,040 --> 03:26:25,160 RARE DISEASES. BEYOND 5469 03:26:25,160 --> 03:26:25,920 EVIDENCE OF CLINICAL REGULATION 5470 03:26:25,920 --> 03:26:27,480 EXAM DUE AT THE END 5471 03:26:27,480 --> 03:26:29,400 THE DAY DOESN'T MATTER WHETHER THE MEDICATION IS 5472 03:26:29,400 --> 03:26:32,080 APPROVED, WHICH IS IMPORTANT 5473 03:26:32,080 --> 03:26:33,520 WHETHER A PRODUCT CAN OR NOT 5474 03:26:33,520 --> 03:26:36,080 PATIENT BENEFITS WHAT WE CAN 5475 03:26:36,080 --> 03:26:38,080 ACCEPTING IT, WE HAVE ALSO LEARNED 5476 03:26:38,080 --> 03:26:41,520 IN THAT ACCESS ENVIRONMENT 5477 03:26:41,520 --> 03:26:43,280 PAYERS AND THEM IN HEALTH 5478 03:26:43,280 --> 03:26:44,560 AREAS OF AUTHORITY, NOT ALWAYS 5479 03:26:44,560 --> 03:26:47,000 HAVE DATA THAT NEEDS TO BE CREATED 5480 03:26:47,000 --> 03:26:48,240 DECISIONS ABOUT PATIENTS 5481 03:26:48,240 --> 03:26:50,280 COMMUNITY LIVING EXPERIENCE. AND 5482 03:26:50,280 --> 03:26:52,840 WE HAVE SEEN THIS TIME AND TIMES 5483 03:26:52,840 --> 03:26:55,000 AGAIN IN A DIFFERENT ACCESS 5484 03:26:55,000 --> 03:26:56,480 ENVIRONMENT. SO THAT'S TAKEN 5485 03:26:56,480 --> 03:26:59,120 THAT'S WHAT LIVES FROM 5486 03:26:59,120 --> 03:27:01,080 PATIENT COMMUNITY EXPERIENCE 5487 03:27:01,080 --> 03:27:03,640 NOT ALWAYS COLLECTED 5488 03:27:03,640 --> 03:27:04,960 HOW INFORMATION CAN BE QUANTIFIED 5489 03:27:04,960 --> 03:27:09,280 NEEDED DECISION MAKING. 5490 03:27:09,280 --> 03:27:10,520 SO THERE ARE REAL HOLES IN WHAT 5491 03:27:10,520 --> 03:27:12,040 WE KNOW. WHAT'S OUT OF POCKET 5492 03:27:12,040 --> 03:27:13,880 PATIENT COSTS, NOT JUST COSTS 5493 03:27:13,880 --> 03:27:16,280 WE LOOK IN DIRECT COST DATA,S 5494 03:27:16,280 --> 03:27:17,640 ANY MODIFICATIONS 5495 03:27:17,640 --> 03:27:20,040 WE PAY FOR US 5496 03:27:20,040 --> 03:27:21,480 VEHICLE OR HOUSE, WHAT IS IT 5497 03:27:21,480 --> 03:27:22,920 SUPERVISORY FEE IS PAID 5498 03:27:22,920 --> 03:27:26,000 FOR OUT OF YOUR POCKET, ANYTHING 5499 03:27:26,000 --> 03:27:27,360 WHAT IS CALLED PRODUCTIVITY 5500 03:27:27,360 --> 03:27:28,800 LOSS? HOW MUCH DOES IT COST 5501 03:27:28,800 --> 03:27:30,040 IT HAPPENED BECAUSE OF THE FAMILY 5502 03:27:30,040 --> 03:27:32,080 MEMBERS BECOMES SUPERVISOR OR 5503 03:27:32,080 --> 03:27:33,360 NOT WORKING FULL TIME BECAUSE 5504 03:27:33,360 --> 03:27:34,880 YOU ARE YOURSELF DIAGNOSED OR 5505 03:27:34,880 --> 03:27:37,560 LOVED PERSON DIAGNOSED. THAT'S IT 5506 03:27:37,560 --> 03:27:39,040 WHY DO WE NEED THIS DATA. WE HAVE 5507 03:27:39,040 --> 03:27:40,680 TO HAVE THIS DATA SO IT EXISTS 5508 03:27:40,680 --> 03:27:45,120 PART OF THE EQUATION. SO WE DETERMINE 5509 03:27:45,120 --> 03:27:46,880 OUT TO DO ONE OF THE FIRST 5510 03:27:46,880 --> 03:27:49,480 THE LARGEST STUDY OF ITS KIND 5511 03:27:49,480 --> 03:27:50,840 MOVE FROM THE BACK 5512 03:27:50,840 --> 03:27:53,840 ENVELOPE OR LIFE CALCULATION 5513 03:27:53,840 --> 03:27:55,280 WE ALL KNOW THE EXPERIENCE, ALL OF US 5514 03:27:55,280 --> 03:27:57,240 KNOW HOW MUCH IT WILL COST OR HOW MUCH 5515 03:27:57,240 --> 03:27:58,880 THE IMPACT IS TO BE SOMEONE LIVE 5516 03:27:58,880 --> 03:28:01,040 WITH A RARE DISEASE BUT WE NEED IT 5517 03:28:01,040 --> 03:28:01,760 REAL DATA ABOUT THAT. 5518 03:28:01,760 --> 03:28:03,960 SO WE PARTNER WIDELY 5519 03:28:03,960 --> 03:28:05,440 RARE DISEASES COMMUNITY TO 5520 03:28:05,440 --> 03:28:06,880 COLLECT DATA AND SEE WHAT 5521 03:28:06,880 --> 03:28:08,600 ECONOMIC IMPACT OF RARE 5522 03:28:08,600 --> 03:28:09,720 THE DISEASE EXISTS AND WE DO IT 5523 03:28:09,720 --> 03:28:11,560 SEE THREE CHARGES 5524 03:28:11,560 --> 03:28:13,640 CATEGORY. DIRECT MEDICAL COSTS 5525 03:28:13,640 --> 03:28:15,440 WHAT YOU HAVE ALREADY HEARD 5526 03:28:15,440 --> 03:28:17,160 ABOUT BECAUSE THIS DATA IS SEEN 5527 03:28:17,160 --> 03:28:19,160 IMMEDIATE MEDICAL COSTS 5528 03:28:19,160 --> 03:28:22,000 FEES LISTED IN YOUR MEDICAL 5529 03:28:22,000 --> 03:28:23,920 THE BURDEN YOU LOOK BACK ON 5530 03:28:23,920 --> 03:28:25,720 ABOUT YOUR EXPLANATION OF BENEFITS, 5531 03:28:25,720 --> 03:28:28,000 DOCTOR VISIT, ER VISIT, IN 5532 03:28:28,000 --> 03:28:30,800 PATIENT AND OUTPATIENT CARE. WE 5533 03:28:30,800 --> 03:28:33,360 SEE ALSO INDIRECT COSTS. 5534 03:28:33,360 --> 03:28:34,680 HOW MUCH WILL IT COST YOU 5535 03:28:34,680 --> 03:28:37,280 NO LONGER WORKING FULL TIME OR 5536 03:28:37,280 --> 03:28:39,200 WORKING PART TIME? WHAT DOES IT DO 5537 03:28:39,200 --> 03:28:41,280 CHARGES WHEN YOU HAVE TO GO 5538 03:28:41,280 --> 03:28:42,560 THE INITIAL WORK WE REFER TO 5539 03:28:42,560 --> 03:28:44,280 TO AS FORCED RETIREMENT, NOT 5540 03:28:44,280 --> 03:28:46,120 REALLY RETIREMENT -- EARLY 5541 03:28:46,120 --> 03:28:49,560 RETIREMENT AND WHAT ARE THE 5542 03:28:49,560 --> 03:28:50,880 COSTS NOT PARTICIPATING IN 5543 03:28:50,880 --> 03:28:53,600 SOCIETY, THE WAY YOU WOULD WANT 5544 03:28:53,600 --> 03:28:55,400 TO. ALSO VERY IMPORTANTLY THOSE 5545 03:28:55,400 --> 03:28:56,920 COSTS THAT I TALKED ABOUT THE 5546 03:28:56,920 --> 03:28:58,280 NON-MEDICAL COSTS. SO THINGS 5547 03:28:58,280 --> 03:29:01,760 THAT MAY BE PRESCRIBED THAT ARE 5548 03:29:01,760 --> 03:29:02,600 NOT COVERED BY INSURANCE. WHAT 5549 03:29:02,600 --> 03:29:06,480 ARE THE MODIFICATIONS NEEDED IN 5550 03:29:06,480 --> 03:29:08,800 ORDER TO LIVE IN HOME OR TRAVEL 5551 03:29:08,800 --> 03:29:10,880 PLACE TO PLACE. OUT OF POCKET 5552 03:29:10,880 --> 03:29:12,680 CARE COSTS, ET CETERA. WHEN WE 5553 03:29:12,680 --> 03:29:15,880 QUANTIFY THOSE COSTS, WE WORK 5554 03:29:15,880 --> 03:29:17,240 WITH THE BROAD COMMUNITY TO 5555 03:29:17,240 --> 03:29:21,840 DEVELOP A SURVEY, WE DISSEMI 5556 03:29:21,840 --> 03:29:24,840 DISSEMINATED THROUGH THE CLOCK 5557 03:29:24,840 --> 03:29:27,720 CONSERVATIVE TRACK 5558 03:29:27,720 --> 03:29:29,200 WORKPLACE SPONSORSHIP AND RESPONSE. 5559 03:29:29,200 --> 03:29:30,400 WE ASK THE COMMUNITY TO 5560 03:29:30,400 --> 03:29:33,000 REFLECTION ON 2019 EXPENDITURES AND 5561 03:29:33,000 --> 03:29:37,600 WE HAVE RESPONDENTS, MORE THAN 1,400 5562 03:29:37,600 --> 03:29:41,800 RESPONDENTS WHO REPORTED LIVING 5563 03:29:41,800 --> 03:29:45,360 WITH 379 RARE DISEASES. SO WE 5564 03:29:45,360 --> 03:29:47,280 DATA REFLECTS 379 RARE DISEASES, 5565 03:29:47,280 --> 03:29:51,880 WE CAN REMEMBER ESTIMATES 5566 03:29:51,880 --> 03:29:53,520 BETWEEN 710,000 RARE DISEASES. 5567 03:29:53,520 --> 03:29:55,520 CONTEMPLATING 379 RARE DISEASES, 5568 03:29:55,520 --> 03:29:57,280 BY PREVALENCE 5569 03:29:57,280 --> 03:30:03,800 15.5 MILLION. THIS MEANS 379 5570 03:30:03,800 --> 03:30:06,120 RARE DISEASES, PREVALENCE 5571 03:30:06,120 --> 03:30:09,560 15.5 MILLION AMERICANS AND IN 5572 03:30:09,560 --> 03:30:11,640 IN 2019, 379 RARE DISEASES HAD AN 5573 03:30:11,640 --> 03:30:16,560 ECONOMIC IMPACT OF $966 BILLION 5574 03:30:16,560 --> 03:30:19,360 CLOSE TO A TRILLION DOLLARS. 5575 03:30:19,360 --> 03:30:21,120 WHAT WE FOUND IS REAL 5576 03:30:21,120 --> 03:30:24,400 IMPORTANT, THAT'S THE COST 5577 03:30:24,400 --> 03:30:27,800 DRIVER 60% INDIRECT AND 5578 03:30:27,800 --> 03:30:29,600 NON MEDICAL COSTS. MEANS THAT 5579 03:30:29,600 --> 03:30:33,080 OF THAT COST, 40% IS THAT 5580 03:30:33,080 --> 03:30:35,400 DIRECT MEDAKA FEES. IT 5581 03:30:35,400 --> 03:30:37,480 HOSPITAL BILLS, INPATHEMENT 5582 03:30:37,480 --> 03:30:39,360 OUTPATIENT VISITS, AND SO ON. 5583 03:30:39,360 --> 03:30:44,200 BUT 60% OF THE COST IS EXPENSES 5584 03:30:44,200 --> 03:30:45,440 ABSORBED OUT OF POCKET BY 5585 03:30:45,440 --> 03:30:46,920 FAMILY AND NOT COVERED 5586 03:30:46,920 --> 03:30:47,560 ELSEWHERE IN OUR HEALTH CARE 5587 03:30:47,560 --> 03:30:50,280 SYSTEM. IT IS POSSIBLE INC 5588 03:30:50,280 --> 03:30:51,320 IMPORTANT DATA NOW FOR ANYONE IN 5589 03:30:51,320 --> 03:30:52,680 A RARE DISEASE COMMUNITY, THAT 5590 03:30:52,680 --> 03:30:55,080 NOT SURPRISING. BUT IT MUST 5591 03:30:55,080 --> 03:31:03,680 BE AN AMAZING NUMBER FOR 5592 03:31:03,680 --> 03:31:05,120 GENERAL. WE HAVE OTHER DATA 5593 03:31:05,120 --> 03:31:06,400 IT IS AVAILABLE AND I WON'T DO IT 5594 03:31:06,400 --> 03:31:08,080 THERE'S A LOT ON THE WEBSITE AND 5595 03:31:08,080 --> 03:31:09,560 PUBLICATION BUT I WANT 5596 03:31:09,560 --> 03:31:10,800 HIGHLIGHTS IN LIVE MEDICAL 5597 03:31:10,800 --> 03:31:12,960 COST DATA THAT 40 COST BENEFITS 5598 03:31:12,960 --> 03:31:14,000 DRIVERS ARE NOT FEW OF THEM 5599 03:31:14,000 --> 03:31:18,960 OUR COST DRIVERS ARE TIME SPENDING 5600 03:31:18,960 --> 03:31:20,440 TALK ABOUT, THEY ARE 5601 03:31:20,440 --> 03:31:21,680 INPATIATION OUTPATIENT COSTS 5602 03:31:21,680 --> 03:31:23,400 LOAD. THINGS THAT ARE POSSIBLE 5603 03:31:23,400 --> 03:31:25,200 IT CAN BE REDUCED IF WE REDUCE 5604 03:31:25,200 --> 03:31:27,200 AND SIMILAR STREAMLINE PROCESSES 5605 03:31:27,200 --> 03:31:30,040 DIAGNOSTIC ODYSSEY, IF WE HAVE 5606 03:31:30,040 --> 03:31:31,760 BETTER TREATMENT INTERVENTIONS 5607 03:31:31,760 --> 03:31:34,880 PREVIOUSLY MITIGATED SYMPTOMS 5608 03:31:34,880 --> 03:31:35,720 OUR DISEASES 5609 03:31:35,720 --> 03:31:37,200 A. SO THIS IS A PICTURE OF WHAT WE HAVE 5610 03:31:37,200 --> 03:31:39,120 RARE DISEASE EXPERIENCES 5611 03:31:39,120 --> 03:31:40,760 COMMUNITY, WE BELIEVE THAT EXISTS 5612 03:31:40,760 --> 03:31:42,240 IT WAS LOW HANGING FRUIT AT THE TIME 5613 03:31:42,240 --> 03:31:44,760 COMING IN POLICY CHANGES. AND US 5614 03:31:44,760 --> 03:31:47,560 KNOW THAT RARE IS NOT RARE. AND 5615 03:31:47,560 --> 03:31:55,440 THIS DATA ENHANCES THE FACTS 5616 03:31:55,440 --> 03:31:56,840 WE HAVE A PUBLIC HEALTH CRISIS 5617 03:31:56,840 --> 03:31:58,080 RARE DISEASES IN THE US AND 5618 03:31:58,080 --> 03:31:59,640 IT DESERVES SUITABLE RESOURCES 5619 03:31:59,640 --> 03:32:01,120 THE URGENCY OF PUBLIC HEALTH 5620 03:32:01,120 --> 03:32:02,480 WITH RARE DISEASES. SO THANK YOU. 5621 03:32:02,480 --> 03:32:04,480 WE'RE REALLY LOOKING FOR A SHIFT 5622 03:32:04,480 --> 03:32:06,120 CONVERSATION AND THE PUBLIC 5623 03:32:06,120 --> 03:32:09,040 NATURAL HEALTH DIALOGUES ARE RARE 5624 03:32:09,040 --> 03:32:13,000 DISEASE. BECAUSE IT IS RARE AGAIN 5625 03:32:13,000 --> 03:32:14,480 NOT TERM. THANK YOU PARTNER 5626 03:32:14,480 --> 03:32:15,880 AND THE WIDER COMMUNITY WHO HELPED 5627 03:32:15,880 --> 03:32:17,320 MAKE THIS STUDY POSSIBLE. 5628 03:32:17,320 --> 03:32:18,080 WITHOUT ANY MEMBERS 5629 03:32:18,080 --> 03:32:20,120 COMMUNITY PARTICIPATING IN 5630 03:32:20,120 --> 03:32:21,280 SURVEY AND ORGANIZATION ASSISTANCE 5631 03:32:21,280 --> 03:32:22,640 CREATING IT, WE CAN'T DO IT 5632 03:32:22,640 --> 03:32:37,280 THIS. THANK YOU. 5633 03:32:37,280 --> 03:32:39,880 >> ONE OF THE NAME IS ERIC SID, OFFICER 5634 03:32:39,880 --> 03:32:41,320 AT THE NATIONAL CENTER 5635 03:32:41,320 --> 03:32:42,640 ADVANCEING TRANSLATION SCIENCE 5636 03:32:42,640 --> 03:32:44,080 OR NCATS AT THE NATIONAL INSTITUTE 5637 03:32:44,080 --> 03:32:46,400 HEALTH. I'M HERE TO TALK 5638 03:32:46,400 --> 03:32:47,960 TALK ABOUT GENETIC AND RARE 5639 03:32:47,960 --> 03:32:49,320 OAR GUARD DISEASE INFORMATION 5640 03:32:49,320 --> 03:32:50,280 CENTER AND PROVIDE UPDATES 5641 03:32:50,280 --> 03:32:55,880 ABOUT THE PROGRAM. OUR APPROACH 5642 03:32:55,880 --> 03:32:57,840 RESEARCHING IS DISCOVERING 5643 03:32:57,840 --> 03:32:58,600 ANNOUNCABLE SOLUTIONS 5644 03:32:58,600 --> 03:32:59,640 TARGETS MANY RARE DISEASES. 5645 03:32:59,640 --> 03:33:01,480 PATIENTS WITH RARE DISEASES 5646 03:33:01,480 --> 03:33:02,760 OFTEN FACING THE PUBLIC 5647 03:33:02,760 --> 03:33:06,520 CHALLENGE OF LACK OF TREATMENT, 5648 03:33:06,520 --> 03:33:07,320 LONG DIAGNOSTIC ODYSSEY, WE WILL 5649 03:33:07,320 --> 03:33:08,680 THERE'S A SESSION AT THE END 5650 03:33:08,680 --> 03:33:10,760 TODAY SO STAY FOREVER 5651 03:33:10,760 --> 03:33:12,320 THE ENTIRE EVENT AND 5652 03:33:12,320 --> 03:33:14,680 THEN FIND A TRUSTED ONE ON LINE 5653 03:33:14,680 --> 03:33:17,240 SPECIAL INFORMATION A 5654 03:33:17,240 --> 03:33:19,200 CHALLENGE. THE GUARD IS HERE 5655 03:33:19,200 --> 03:33:20,160 SINCE THE ACTION OF A RARE DISEASE 5656 03:33:20,160 --> 03:33:22,000 2002 AND IS PUBLIC HEALTH 5657 03:33:22,000 --> 03:33:23,560 RESOURCES ARE ESTABLISHED TO SUPPORT 5658 03:33:23,560 --> 03:33:26,120 PATIENTS AND THEIR SUPERVISORS 5659 03:33:26,120 --> 03:33:27,280 THE FAMILY IS NOTICEABLE 5660 03:33:27,280 --> 03:33:28,920 INFORMATION ON RARE DISEASES. 5661 03:33:28,920 --> 03:33:34,160 YOU CAN REACH THE GUARD AT 5662 03:33:34,160 --> 03:33:34,800 RREDISEASES.INFO.NIH.GOV. THIS 5663 03:33:34,800 --> 03:33:36,120 THE CHALLENGE OF FINDING A RELIABLE ONE 5664 03:33:36,120 --> 03:33:37,800 INFORMATION IS NOT UNIQUE TO 5665 03:33:37,800 --> 03:33:39,280 RARE DISEASE ONLY. US 5666 03:33:39,280 --> 03:33:41,920 COLLEAGUES AT NATIONAL 5667 03:33:41,920 --> 03:33:43,880 CANCER INSTITUTE, 5668 03:33:43,880 --> 03:33:45,200 FREE AL -- INTEGRATIVE 5669 03:33:45,200 --> 03:33:46,760 HEALTH AND AGING HAVE 5670 03:33:46,760 --> 03:33:49,760 SIMILAR RESOURCES DEDICATED TO 5671 03:33:49,760 --> 03:33:51,080 HELPING PATIENTS FIND RELIABILITY 5672 03:33:51,080 --> 03:33:53,480 INFORMATION. TO CHALLENGE IT 5673 03:33:53,480 --> 03:33:57,880 WHAT WE FACE IN RARE DISEASES IS 5674 03:33:57,880 --> 03:33:59,360 RESEARCH EVIDENCE. IT 5675 03:33:59,360 --> 03:34:02,440 KEEP GROWING. WE SEE FINISHED 5676 03:34:02,440 --> 03:34:05,040 900,000 NEW PUBLICATIONS 5677 03:34:05,040 --> 03:34:06,600 NATIONAL YEARLY PUBLICATION 5678 03:34:06,600 --> 03:34:07,680 DRUG LIBRARY. US 5679 03:34:07,680 --> 03:34:09,520 THE CHALLENGE IS ON 5680 03:34:09,520 --> 03:34:10,520 THOUSANDS OF RARE INFORMATION 5681 03:34:10,520 --> 03:34:11,880 DISEASES IN THE HUNDREDS 5682 03:34:11,880 --> 03:34:13,400 THOUSANDS OF PUBLICATIONS, 5683 03:34:13,400 --> 03:34:14,760 THOUSANDS OF JOURNALS AND 5684 03:34:14,760 --> 03:34:17,480 THOUSANDS OF RESEARCHERS. SO 5685 03:34:17,480 --> 03:34:19,680 ONE OF THE QUESTIONS WE HAVE 5686 03:34:19,680 --> 03:34:20,880 OURSELVES, CAN WE BENEFIT 5687 03:34:20,880 --> 03:34:22,360 COLLECTION OF EXISTING DATA ON 5688 03:34:22,360 --> 03:34:27,960 RARE DISEASES TO HELP IMPROVE ACTION 5689 03:34:27,960 --> 03:34:29,000 SEMIRATION TO PROVIDE INFORMATION 5690 03:34:29,000 --> 03:34:30,600 TO PATIENTS AND CARERS ABOUT 5691 03:34:30,600 --> 03:34:34,600 RARE DISEASES. THINK ABOUT 5692 03:34:34,600 --> 03:34:35,800 UTILIZING EXISTING DATA FOR 5693 03:34:35,800 --> 03:34:37,280 PUBLIC HEALTH THAT WE SEE TOGETHER A 5694 03:34:37,280 --> 03:34:41,000 FOCUS ON FAIR DATA. 5695 03:34:41,000 --> 03:34:42,360 ACCESSIBLE 5696 03:34:42,360 --> 03:34:43,600 REUSABLE. IN 5697 03:34:43,600 --> 03:34:45,480 SPECIAL FOCUS ON VERGE 5698 03:34:45,480 --> 03:34:47,360 DATABASE THAT EXISTS BOTH IN 5699 03:34:47,360 --> 03:34:50,480 NOW AS WELL AS IN THE EU AT 5700 03:34:50,480 --> 03:34:52,880 ORPHAN NET AND SOME RESEARCH 5701 03:34:52,880 --> 03:34:54,880 COLLEAGUES AT MONARCH 5702 03:34:54,880 --> 03:34:57,080 DISEASE INITIATIVE ON TOLL AND 5703 03:34:57,080 --> 03:34:58,360 MENDELIAN DATABASE. WHAT WE ARE 5704 03:34:58,360 --> 03:35:01,200 WHAT WE TRY IS THAT WE TRY 5705 03:35:01,200 --> 03:35:02,760 EXTRACT AND INFER KNOWLEDGE FROM 5706 03:35:02,760 --> 03:35:05,000 DIFFERENT DATA SOURCES, SYMPTOMS 5707 03:35:05,000 --> 03:35:07,360 DISEASE, EPIDEMIOLOGICAL LEVEL, 5708 03:35:07,360 --> 03:35:09,200 CAUSING GENES, OTHER INFORMATION, 5709 03:35:09,200 --> 03:35:11,440 WE TRY TO ORGANIZE EVERYTHING 5710 03:35:11,440 --> 03:35:13,080 TOGETHER AND THAT'S THE BASIS 5711 03:35:13,080 --> 03:35:17,080 IT WILL BE A WAY FOR US TO CREATE 5712 03:35:17,080 --> 03:35:17,720 THIS INFORMATION IS USEFUL 5713 03:35:17,720 --> 03:35:18,480 JOBS THAT ARE NOT JUST RESEARCHERS 5714 03:35:18,480 --> 03:35:20,960 DOES BUT FIELDS ARE AS RARE 5715 03:35:20,960 --> 03:35:28,600 OVERALL DISEASE RESEARCH. 5716 03:35:28,600 --> 03:35:32,240 WE WANT TO FOCUS ON 1/2 NAVIGATION 5717 03:35:32,240 --> 03:35:33,320 DATA RETURNS TO SPECIFICALLY 5718 03:35:33,320 --> 03:35:37,360 TRAVEL. THIS IS YOUR MAP 5719 03:35:37,360 --> 03:35:39,480 AS WELL AS COLLEAGUES WITHIN 5720 03:35:39,480 --> 03:35:40,480 EUROPE EUROPEAN UNION AND 5721 03:35:40,480 --> 03:35:42,960 THINGS THEY SHOW IN GENERAL 5722 03:35:42,960 --> 03:35:44,160 WHICH IS OFTEN AFTER THE PATIENT 5723 03:35:44,160 --> 03:35:47,480 FIRST START HAS A BEGINNING 5724 03:35:47,480 --> 03:35:48,640 SYMPTOMS WE SEEK TREATMENT WITH THEM 5725 03:35:48,640 --> 03:35:50,880 NEXT STEPS TO THE PRIMARY CARE PROVIDER 5726 03:35:50,880 --> 03:35:52,960 WAS TO CONDUCT LION AND RESEARCH 5727 03:35:52,960 --> 03:35:55,560 IT'S USUALLY THE NEXT STEP FROM THERE 5728 03:35:55,560 --> 03:36:05,680 IT IS TO SEARCH AND LOOK FOR SPECIALISTS 5729 03:36:05,680 --> 03:36:08,560 WE BUILT THAT BETA WEBSITE 5730 03:36:08,560 --> 03:36:09,800 TAKE ADVANTAGE OF THE DATA, YOU CAN 5731 03:36:09,800 --> 03:36:15,600 REACHED BETA.RARE DATA 5732 03:36:15,600 --> 03:36:17,080 DISEASE.INFO.NIH.GOV. WE TRY 5733 03:36:17,080 --> 03:36:20,200 WHO SHOULD REUSE THE EXISTING FOCUS 5734 03:36:20,200 --> 03:36:21,200 DATA AND INTERPRETATION FOR 5735 03:36:21,200 --> 03:36:23,720 PATIENTS FOR USE. SO HERE YOU ARE 5736 03:36:23,720 --> 03:36:25,080 GOING TO SEE SOME PREVIEWS OF HOW WE ARE 5737 03:36:25,080 --> 03:36:26,640 HAVE TRIED TO PULL SOME 5738 03:36:26,640 --> 03:36:30,400 INFORMATION CONTAINED ON 5739 03:36:30,400 --> 03:36:32,080 SYMPTOMS OF AGE OF START OF THE DISEASE 5740 03:36:32,080 --> 03:36:34,080 AND TRY TO UNDERSTAND WHETHER WE CAN 5741 03:36:34,080 --> 03:36:36,880 PUT IT IN A PATIENT ACCOUNTABLE FORMAT 5742 03:36:36,880 --> 03:36:38,800 TAKE ADVANTAGE OF IT. FOR EXAMPLE 5743 03:36:38,800 --> 03:36:39,920 ONE OF THE QUESTIONS I HAVE 5744 03:36:39,920 --> 03:36:41,680 PRIOR DISCLOSURE TO THE PATIENT 5745 03:36:41,680 --> 03:36:43,720 VERY IMPORTANT FOR THE PATIENT'S JOURNEY 5746 03:36:43,720 --> 03:36:46,400 FIRST VISIT TO A SPECIALIST. 5747 03:36:46,400 --> 03:36:47,960 WHAT WE'RE TRYING TO DO IS DISCOVER 5748 03:36:47,960 --> 03:36:50,680 HOW TO DRAW FROM ALL THE DATA 5749 03:36:50,680 --> 03:36:51,880 THAT INFORMATION, OTHER THINGS 5750 03:36:51,880 --> 03:36:53,720 COLLECT AND TRY TO UNDERSTAND 5751 03:36:53,720 --> 03:36:55,080 WHAT DISEASES DO YOU NEED 5752 03:36:55,080 --> 03:36:56,440 SEE SOMEONE LIKE A SPECIALIST. 5753 03:36:56,440 --> 03:36:58,680 AND PART OF OUR QUESTION IS HOW 5754 03:36:58,680 --> 03:36:59,880 THEN WE BRING IT 5755 03:36:59,880 --> 03:37:01,120 INFORMATION TO WEBSITE USERS 5756 03:37:01,120 --> 03:37:02,600 THAT'S A PATIENT WITH A RARE DISEASE 5757 03:37:02,600 --> 03:37:04,720 AND SUPERVISOR, THAT WAY 5758 03:37:04,720 --> 03:37:05,960 CAN BE ACTIONED AND COMPATIBLE WITH THEM 5759 03:37:05,960 --> 03:37:07,680 NEED. FOR EXAMPLE, IF THEY 5760 03:37:07,680 --> 03:37:09,480 YOU SHOULD GET A GENETIC TEST, YOU CAN 5761 03:37:09,480 --> 03:37:11,320 WE EXPLAIN TO THEM WHAT IS RIGHT 5762 03:37:11,320 --> 03:37:13,560 WHAT ARE THE GENETIC TESTS AND WHERE THEY ARE 5763 03:37:13,560 --> 03:37:17,560 CAN SEEK GENETIC TESTS. 5764 03:37:17,560 --> 03:37:19,400 OUR NEXT STEPS WITH THIS WEBSITE 5765 03:37:19,400 --> 03:37:21,840 HAVE TO START ADJUSTING IT TO FIT 5766 03:37:21,840 --> 03:37:23,400 WEBSITE USER NEEDS FOR PATIENTS 5767 03:37:23,400 --> 03:37:25,680 AND SUPERVISOR. AS AN EXAMPLE, 5768 03:37:25,680 --> 03:37:27,280 ONE OF THE THINGS WE HAVE 5769 03:37:27,280 --> 03:37:29,400 START TO UNDERSTAND AND TRY 5770 03:37:29,400 --> 03:37:31,400 BUILD OUT IS A REQUIRED FUNCTION 5771 03:37:31,400 --> 03:37:32,520 SEARCH AND FILTER FOR RARE 5772 03:37:32,520 --> 03:37:34,280 DISEASE. DO WE DO IT 5773 03:37:34,280 --> 03:37:35,880 ALPHABETICALLY, IN PARTICULAR 5774 03:37:35,880 --> 03:37:36,840 CATEGORIES, THERE ARE OTHERS 5775 03:37:36,840 --> 03:37:40,600 TYPE OF QUESTIONS 5776 03:37:40,600 --> 03:37:41,840 THE SUPERVISOR MAY ASK WE CAN 5777 03:37:41,840 --> 03:37:45,400 USE IT FOR LATER TO HELP MAKE IT EASIER 5778 03:37:45,400 --> 03:37:49,000 THEY ARE TO FIND OUR DISEASE PAGES. 5779 03:37:49,000 --> 03:37:51,240 TO DO THAT IN ORDER TO ADJUST 5780 03:37:51,240 --> 03:37:53,880 NEXT VERSION OF GUARD, 2.0 FOR 5781 03:37:53,880 --> 03:37:55,360 PATIENTS AND CARERS WE NEED 5782 03:37:55,360 --> 03:37:58,560 YOUR HELP. PLEASE VISIT BETA 5783 03:37:58,560 --> 03:38:00,120 SITE AND PROVIDING FEEDBACK, IN 5784 03:38:00,120 --> 03:38:01,640 THEN YOU SEE THE LINK TO 5785 03:38:01,640 --> 03:38:03,400 FEEDBACK FORM AND IF YOU ARE ANY 5786 03:38:03,400 --> 03:38:04,800 PARTICULARLY INTERESTED IN 5787 03:38:04,800 --> 03:38:06,480 VOLUNTEER FOR USER TESTING 5788 03:38:06,480 --> 03:38:12,280 WE'RE GLAD TO GET YOUR SUPPORT 5789 03:38:12,280 --> 03:38:13,480 ORDR@NIH.GOV AND IN THE SUBJECT 5790 03:38:13,480 --> 03:38:15,600 WRITE AN INTERESTED LINE TO THE USER 5791 03:38:15,600 --> 03:38:17,960 TESTING. THANK YOU. I JUST 5792 03:38:17,960 --> 03:38:20,480 I WANT TO STATE THAT AGAIN 5793 03:38:20,480 --> 03:38:22,480 WHAT WE ARE TRYING TO DO 5794 03:38:22,480 --> 03:38:23,520 NCATS HELP CREATE SOLUTIONS 5795 03:38:23,520 --> 03:38:26,880 WHICH COULD APPLY IN MANY MORE 5796 03:38:26,880 --> 03:38:27,880 DIFFERENT PROBLEMS IN THIS CASE 5797 03:38:27,880 --> 03:38:30,160 LOOK AT ALL THE DIFFERENT WAYS 5798 03:38:30,160 --> 03:38:31,360 PATIENTS WITH RARE DISEASES ARE 5799 03:38:31,360 --> 03:38:33,240 FIND INFORMATION ONLINE. 5800 03:38:33,240 --> 03:38:35,160 THANK YOU FOR THAT. ENJOY 5801 03:38:35,160 --> 03:38:37,160 REST THE DAY AND WATCH 5802 03:38:37,160 --> 03:38:40,080 OUR LATER SESSION AT 5803 03:38:40,080 --> 03:38:41,520 DIAGNOSTIC ODYSSEY WHERE WE CAN 5804 03:38:41,520 --> 03:38:42,200 TALK A LITTLE MORE. 5805 03:38:42,200 --> 03:38:54,200 THANK YOU. 5806 03:38:54,200 --> 03:38:59,280 >> HELLO. WELCOME TO SESSION 3. 5807 03:38:59,280 --> 03:39:00,680 SUCCESSFUL CLINICAL TRIALS 5808 03:39:00,680 --> 03:39:04,200 REGISTRATION WITH CORRECT ADVOCACY 5809 03:39:04,200 --> 03:39:05,280 COLLABORATE WHEN CHALLENGING 5810 03:39:05,280 --> 03:39:12,160 TIME. MY NAME IS SANJAY, 5811 03:39:12,160 --> 03:39:13,400 SENIOR CHIEF PATIENT DIRECTOR 5812 03:39:13,400 --> 03:39:18,640 SERVICES AT UBC. TODAY I HAVE 5813 03:39:18,640 --> 03:39:20,120 ABOUT OR MODERATE THIS 5814 03:39:20,120 --> 03:39:22,720 SESSION. THIS IS A TOPIC AND 5815 03:39:22,720 --> 03:39:25,360 ESPECIALLY EXITEDDED ABOUT AS I 5816 03:39:25,360 --> 03:39:29,280 HAVE THE LUXURY OF BEING A BRIDGE 5817 03:39:29,280 --> 03:39:30,680 BETWEEN INDUSTRY AND ADVOCACY 5818 03:39:30,680 --> 03:39:33,360 WITH SPECIAL CONCENTRATION ON 5819 03:39:33,360 --> 03:39:36,320 A RARE DISEASE FOR SOME PEOPLE 5820 03:39:36,320 --> 03:39:39,960 TIME. I AM SO GLAD TO HAVE DR. 5821 03:39:39,960 --> 03:39:44,880 SAN SAY SHUKLA, PRESIDENT AND 5822 03:39:44,880 --> 03:39:51,480 CEO AT ATYR PHARMA, TRICHA 5823 03:39:51,480 --> 03:39:53,840 SHIVAS, CHIEF STRATEGY OFFICER 5824 03:39:53,840 --> 03:39:55,480 ON THE BASIS OF SARCOIDOSIS 5825 03:39:55,480 --> 03:39:59,920 FSR RESEARCH AND ERIKA COURTENAY 5826 03:39:59,920 --> 03:40:01,120 COURTENAY-MANN, MEMBER 5827 03:40:01,120 --> 03:40:05,160 FSR WOMEN PATIENTS OF COLOR 5828 03:40:05,160 --> 03:40:06,480 ADVISORY COMMITTEE. BEFORE US 5829 03:40:06,480 --> 03:40:09,480 START WITH DISCUSSION, 5830 03:40:09,480 --> 03:40:15,200 I LOVE TOUCH REMINDERS 5831 03:40:15,200 --> 03:40:20,360 WHERE WE ARE IN RARE DISEASES 5832 03:40:20,360 --> 03:40:21,720 LANDSCAPE, A TOUCH ON 5833 03:40:21,720 --> 03:40:25,560 WHY TONE IS SO IMPORTANT TO 5834 03:40:25,560 --> 03:40:29,640 ADVOCACY AND INDUSTRY TO WORK 5835 03:40:29,640 --> 03:40:32,360 TOGETHER. CLINICAL RARE DISEASES 5836 03:40:32,360 --> 03:40:36,000 THE TEST IS HARD TO START AND 5837 03:40:36,000 --> 03:40:38,680 SIGN UP, CONNECT WITH 5838 03:40:38,680 --> 03:40:41,560 ADVOCACY ORGANIZATIONS CAN MAKE IT 5839 03:40:41,560 --> 03:40:43,840 OR BREAK THE CLINICAL TRIAL 5840 03:40:43,840 --> 03:40:49,280 SUCCESS. WE NEED IT 5841 03:40:49,280 --> 03:40:52,320 UNDERSTAND WHERE THE PATIENT IS 5842 03:40:52,320 --> 03:40:53,800 ORDER FOR SUCCESSFUL RUNNING 5843 03:40:53,800 --> 03:40:56,080 CLINICAL TRIALS ARE RARE 5844 03:40:56,080 --> 03:41:01,240 DISEASE ROOM. WE NEED TO THINK 5845 03:41:01,240 --> 03:41:01,920 CRITICALLY IN TESTS 5846 03:41:01,920 --> 03:41:06,080 IMPLEMENTATION TO MAKE IT POSSIBLE 5847 03:41:06,080 --> 03:41:10,320 VARIOUS PARTICIPATION. ALL OF US 5848 03:41:10,320 --> 03:41:14,000 KNOW THERE ARE 7,000 PLUS RARE 5849 03:41:14,000 --> 03:41:15,880 DISEASES AND PATIENT EXPERIENCES 5850 03:41:15,880 --> 03:41:19,280 SIGNIFICANT DELAY IN DIAGNOSIS. 5851 03:41:19,280 --> 03:41:23,880 THERE ARE ONLY A FEW HUNDRED FDA 5852 03:41:23,880 --> 03:41:25,640 APPROVED AND EVEN TREATMENT 5853 03:41:25,640 --> 03:41:27,600 THEY HAVE TREATMENT THERE 5854 03:41:27,600 --> 03:41:31,480 IS A LIMITATION OF IMPACT 5855 03:41:31,480 --> 03:41:36,280 CERTAIN TREATMENTS HAVE BEEN AVAILABLE 5856 03:41:36,280 --> 03:41:38,160 INDIVIDUAL. THE MOST RARE DISEASE 5857 03:41:38,160 --> 03:41:43,240 NOT WELL UNDERSTANDED. Tend to 5858 03:41:43,240 --> 03:41:45,280 BE COMPLEX SERIOUS AND ALIVE 5859 03:41:45,280 --> 03:41:50,240 LONG. INDUSTRY AND PATIENTS 5860 03:41:50,240 --> 03:41:53,000 ADVOCACY COLLABORATION IS KEY 5861 03:41:53,000 --> 03:41:57,520 FOR SUCCESS IN ALL PHASE 5862 03:41:57,520 --> 03:42:01,080 DRUG DEVELOPMENT. TODAY WE WILL 5863 03:42:01,080 --> 03:42:02,760 DISCUSS LESSONS LEARNED 5864 03:42:02,760 --> 03:42:08,840 FROM TRIAL PHASE 1, 2 TO 5865 03:42:08,840 --> 03:42:10,920 ALTHOUGH PULMONARY SARCOIDOSIS 5866 03:42:10,920 --> 03:42:12,680 FACING CHALLENGES 5867 03:42:12,680 --> 03:42:14,360 ENVIRONMENT AND PANDEMIC ADVICE 5868 03:42:14,360 --> 03:42:16,280 FOR THE SUCCESS OF CLINICAL TRIALS AT PT 5869 03:42:16,280 --> 03:42:19,800 THE FUTURE. Dr. SHUKLA, I WILL 5870 03:42:19,800 --> 03:42:23,520 WANT TO START WITH YOU. WHAT 5871 03:42:23,520 --> 03:42:24,840 The obstacles you see in 5872 03:42:24,840 --> 03:42:28,280 RESEARCH COMMUNITY, SPECIFICALLY FOR 5873 03:42:28,280 --> 03:42:30,920 PULMONARY SARCOIDOSIS? 5874 03:42:30,920 --> 03:42:32,680 >> THANK YOU FOR INVITING ME 5875 03:42:32,680 --> 03:42:35,960 THIS PANEL. SHAZIA. I THINK ONE 5876 03:42:35,960 --> 03:42:40,000 FROM THE FIRST THING WE 5877 03:42:40,000 --> 03:42:41,720 FOUND WHEN WE STARTED 5878 03:42:41,720 --> 03:42:44,280 THINK ABOUT MOVING OUR POTENTIAL 5879 03:42:44,280 --> 03:42:46,400 THERAPY FOR SARCOIDOSIS IS 5880 03:42:46,400 --> 03:42:49,120 VERY UNDERSTANDING 5881 03:42:49,120 --> 03:42:52,360 DISEASE. DISEASE AND EDUCATION 5882 03:42:52,360 --> 03:42:53,880 MECHANISTIC START 5883 03:42:53,880 --> 03:42:56,240 UNDERSTANDING THE MECHANISM 5884 03:42:56,240 --> 03:42:59,320 ACTION, ETIOLOGY. AND WE TAKE A 5885 03:42:59,320 --> 03:43:00,480 THE CORRECT APPROACH IS NOT ORTHODOX 5886 03:43:00,480 --> 03:43:02,280 BECAUSE WE WORK IN VERY NEW 5887 03:43:02,280 --> 03:43:10,080 THE FIELD OF BIOLOGY, ITSELF 5888 03:43:10,080 --> 03:43:12,280 NOT IN ANY MEDICAL IMMUNOLOGY 5889 03:43:12,280 --> 03:43:14,080 TEXT BOOKS. SOYA CONTACT 5890 03:43:14,080 --> 03:43:17,080 NUMBER OF PATIENT FOUNDATIONS 5891 03:43:17,080 --> 03:43:18,880 VERY EARLY WHEN WE GOT IT 5892 03:43:18,880 --> 03:43:19,840 PRECLINICAL DATA, DATA ON 5893 03:43:19,840 --> 03:43:23,600 ANIMALS. LIKE ME A LITTLE 5894 03:43:23,600 --> 03:43:25,920 NOT ORTHODOX. WE STARTED LEARNING 5895 03:43:25,920 --> 03:43:32,160 MORE ON SARCOIDOSIS. 5896 03:43:32,160 --> 03:43:36,320 MECHANISM, POTENTIAL 5897 03:43:36,320 --> 03:43:38,240 DISORDERS IN DISEASES WHERE WE ARE 5898 03:43:38,240 --> 03:43:39,880 CAN MAKE AN IMPACT AND WE SIT TOGETHER 5899 03:43:39,880 --> 03:43:41,120 EXPERT TO UNDERSTAND 5900 03:43:41,120 --> 03:43:45,520 VERY EARLY DISEASE. SO 5901 03:43:45,520 --> 03:43:47,200 THE FIRST PART IS UNDERSTANDING 5902 03:43:47,200 --> 03:43:49,480 DISEASES, PATHOPHYSIOLOGY. 5903 03:43:49,480 --> 03:43:52,120 ENWE IT'S REALLY STARTING 5904 03:43:52,120 --> 03:43:55,280 UNDERSTAND OVERDOSES 5905 03:43:55,280 --> 03:43:57,560 AND WHERE I MAY HAVE THERAPY 5906 03:43:57,560 --> 03:44:01,240 POTENTIAL IMPACT. WITH US 5907 03:44:01,240 --> 03:44:03,600 EARLY SIGNAL THERAPY AS 5908 03:44:03,600 --> 03:44:07,440 ANTI-INFLAMMATORY POTENTIAL OR 5909 03:44:07,440 --> 03:44:09,760 ANTI-FIBROTIC WE THOUGHT IT WAS 5910 03:44:09,760 --> 03:44:10,720 POTENTIAL DISEASES THAT ARE GOOD FOR US 5911 03:44:10,720 --> 03:44:14,880 GOALS. INVOLVED DISCUSSION 5912 03:44:14,880 --> 03:44:21,480 AND MANY TEACHINGS IN THE NAME 5913 03:44:21,480 --> 03:44:23,160 PATIENTS AND EXPERTS WHERE 5914 03:44:23,160 --> 03:44:24,920 THEY TEACH US HERE WHAT IT IS 5915 03:44:24,920 --> 03:44:27,120 DISEASES EXIST, WHERE THERE ARE 5916 03:44:27,120 --> 03:44:29,960 THE BURDEN OF DISEASE AND THIS 5917 03:44:29,960 --> 03:44:31,520 WHERE WE NEED BETTER THERAPY. 5918 03:44:31,520 --> 03:44:33,480 AS IT STARTS TO PRODUCE 5919 03:44:33,480 --> 03:44:36,680 WE ARE ABSOLUTELY DISCLOSING FURTHER DATA 5920 03:44:36,680 --> 03:44:39,880 DOOR TO SHOW EXPERTS AND GROUPS 5921 03:44:39,880 --> 03:44:42,600 WHAT PRECLINICAL DATA FSR LIKE 5922 03:44:42,600 --> 03:44:45,920 LOOK LIKE AND TAKE A DIFFERENT WAY 5923 03:44:45,920 --> 03:44:46,960 THE APPROACH TELLS WHAT YOU THINK 5924 03:44:46,960 --> 03:44:49,320 THIS WILL BE A USEFUL THERAPY 5925 03:44:49,320 --> 03:44:54,240 TO MOVE TO SARCOIDOSIS. LIKE US 5926 03:44:54,240 --> 03:44:58,200 STARTING TO GENERATE MORE OF OUR DATA 5927 03:44:58,200 --> 03:45:00,280 UNDERSTAND MORE ABOUT TREATMENT 5928 03:45:00,280 --> 03:45:01,200 BURDEN, CURRENT TREATMENT. IT 5929 03:45:01,200 --> 03:45:03,080 WHERE DO WE START 5930 03:45:03,080 --> 03:45:05,200 THINK ABOUT HOW WE DESIGN A 5931 03:45:05,200 --> 03:45:09,880 A TEST BUT A TEST TOO 5932 03:45:09,880 --> 03:45:12,480 INITIAL FOCUS ON MAKING AN IMPACT 5933 03:45:12,480 --> 03:45:14,840 FOR PATIENTS. SO WHAT WE CAN 5934 03:45:14,840 --> 03:45:17,600 DO IT WITH THE PROTOCOL THAT WILL BE 5935 03:45:17,600 --> 03:45:21,080 HAVE A MEANINGFUL SIGNAL? A LOT 5936 03:45:21,080 --> 03:45:22,920 BIOTECHNOLOGY COMPANY AND I HAVE 5937 03:45:22,920 --> 03:45:24,840 HAS BEEN IN THE INDUSTRY SOME TIME NOW 5938 03:45:24,840 --> 03:45:28,240 FOCUS ON BIOMARKERS THAT CAN 5939 03:45:28,240 --> 03:45:30,480 BECOMES VERY IMPORTANT FROM A 5940 03:45:30,480 --> 03:45:31,600 SCIENTIFIC POINT BUT DO IT 5941 03:45:31,600 --> 03:45:35,480 MAKE AN IMPACT IN PATIENTS' LIVES? 5942 03:45:35,480 --> 03:45:37,480 THERE ARE RISKS IN IT 5943 03:45:37,480 --> 03:45:38,840 TAKE SOME APPROACHES THAT WE ARE 5944 03:45:38,840 --> 03:45:42,280 TAKE WITH INITIAL PROTOCOL. A 5945 03:45:42,280 --> 03:45:43,880 FOCUS ON SEARCH FOR POTENTIAL 5946 03:45:43,880 --> 03:45:45,200 ON STEROID SPARING DESIGN. 5947 03:45:45,200 --> 03:45:47,280 BECAUSE WE LEARN FROM PATIENTS 5948 03:45:47,280 --> 03:45:49,600 BEGINNING IT WAS ONLY STEROIDS 5949 03:45:49,600 --> 03:45:51,720 TERRIBLE AND IF WE WOULD 5950 03:45:51,720 --> 03:45:53,920 CREATE A NEW THERAPY, LET'S DO IT 5951 03:45:53,920 --> 03:45:55,880 GET STARTED IMMEDIATELY 5952 03:45:55,880 --> 03:45:57,760 ANSWER THIS QUESTION CAN YOU 5953 03:45:57,760 --> 03:45:59,160 USEFUL IN PEELING BACK SOME 5954 03:45:59,160 --> 03:46:03,920 USE OF STEROIDS OR 5955 03:46:03,920 --> 03:46:05,040 MANAGE TO REPLACE STEROIDS. SO 5956 03:46:05,040 --> 03:46:09,000 ALL OF THESE THINGS INVOLVE 5957 03:46:09,000 --> 03:46:11,440 THE FIRST CHALLENGE IS BEING BRAVE 5958 03:46:11,440 --> 03:46:12,400 ENOUGH AND HAVE CAPABILITY 5959 03:46:12,400 --> 03:46:14,400 REACH TO THE GROUP AND THAT 5960 03:46:14,400 --> 03:46:17,480 NOT JUST SARCOIDOSIS 5961 03:46:17,480 --> 03:46:19,400 COMMUNITY BUT WE REACH OUT 5962 03:46:19,400 --> 03:46:22,520 OTHER PATIENTS FOUNDATION AND 5963 03:46:22,520 --> 03:46:25,200 DERMA SCHEME OF LUNG FIBROSIS 5964 03:46:25,200 --> 03:46:27,040 WHERE DO WE THINK OF THERAPY 5965 03:46:27,040 --> 03:46:31,880 USEFUL BUT TOTALLY INVOLVING 5966 03:46:31,880 --> 03:46:34,560 APPROACH WE SIT SIDE SIDE 5967 03:46:34,560 --> 03:46:36,880 TO UNDERSTAND WHAT WE DON'T KNOW 5968 03:46:36,880 --> 03:46:38,480 FROM THE MECHANISM PERSPECTIVE, 5969 03:46:38,480 --> 03:46:39,640 WHAT DO WE KNOW ABOUT 5970 03:46:39,640 --> 03:46:44,240 DISEASE. WHAT WE DON'T KNOW 5971 03:46:44,240 --> 03:46:46,280 ABOUT MY TREATMENT HEY IT A 5972 03:46:46,280 --> 03:46:49,280 FULL JOURNEY HERE I AM 5973 03:46:49,280 --> 03:46:51,720 GRATEFUL TO HAVE PARTNERED 5974 03:46:51,720 --> 03:46:55,680 REALLY BEGINNING WITH FSR. 5975 03:46:55,680 --> 03:46:58,480 >> GREAT. THANK YOU. THAT'S IT 5976 03:46:58,480 --> 03:47:01,480 VERY HELPFUL. ERIKA, QUESTION 5977 03:47:01,480 --> 03:47:04,600 FOR YOU. AS A PATIENT WHY 5978 03:47:04,600 --> 03:47:06,680 THE IMPORTANCE OF PHARMACY 5979 03:47:06,680 --> 03:47:07,800 THE COMPANY IS LISTENING TO PATIENTS 5980 03:47:07,800 --> 03:47:10,320 WHEN TO CREATE A TEST? 5981 03:47:10,320 --> 03:47:13,800 >> THANK YOU FOR THAT QUESTION. 5982 03:47:13,800 --> 03:47:15,640 PATIENTS NAVIGATE LIFE WITH 5983 03:47:15,640 --> 03:47:17,600 THEIR DISEASES AND THEY HAVE A 5984 03:47:17,600 --> 03:47:20,080 NUANSA AND DAILY JOURNAL 5985 03:47:20,080 --> 03:47:21,760 LIVE HAIKS TO HELP SURVIVE. 5986 03:47:21,760 --> 03:47:25,040 LISTENING TO THE PATIENT HELPS 5987 03:47:25,040 --> 03:47:25,840 PHARMACY COMPANIES CARRY 5988 03:47:25,840 --> 03:47:30,280 IN WHAT IS MOST IMPORTANT AND PATIENT 5989 03:47:30,280 --> 03:47:33,360 PRIORITY. THAT'S TRUE 5990 03:47:33,360 --> 03:47:35,680 IT'S IMPORTANT THAT 5991 03:47:35,680 --> 03:47:37,600 PHARMACY COMPANIES, THEY 5992 03:47:37,600 --> 03:47:39,400 THINK ABOUT -- THEY'RE INTEGRATED 5993 03:47:39,400 --> 03:47:42,920 WHAT'S REALLY IMPORTANT FOR 5994 03:47:42,920 --> 03:47:45,040 THE MOST PATIENT AND HOW THEY ARE 5995 03:47:45,040 --> 03:47:46,240 INFLUENCE THEIR QUALITY OF LIFE 5996 03:47:46,240 --> 03:47:49,360 NEED TO PUT THAT TYPE 5997 03:47:49,360 --> 03:47:52,280 CLINICAL CAUTION 5998 03:47:52,280 --> 03:47:53,800 TRIAL. TO UNDERSTAND WHAT 5999 03:47:53,800 --> 03:47:57,360 MOST IMPORTANT FOR THE PATIENT, MARI 6000 03:47:57,360 --> 03:47:58,960 TAKE AN EXAMPLE OR VIEW ONE 6001 03:47:58,960 --> 03:48:03,000 THE GREATEST QUALITY OF LIFE 6002 03:48:03,000 --> 03:48:06,480 MEASURING IS HOW THE PATIENT DOES 6003 03:48:06,480 --> 03:48:10,120 ON STEROIDS. HOW IS THE PATIENT'S BODY 6004 03:48:10,120 --> 03:48:11,920 STEROID PROCESS, THAT'S OFTEN 6005 03:48:11,920 --> 03:48:16,320 IT'S THE KEY, THAT DETERMINES THE TONE 6006 03:48:16,320 --> 03:48:17,560 THEY ARE - THEIR QUALITIES 6007 03:48:17,560 --> 03:48:20,560 LIFE ACTIONS. STEROID OFFER 6008 03:48:20,560 --> 03:48:23,920 FIRST LINE DEFENSE FOR TREATMENT 6009 03:48:23,920 --> 03:48:25,200 SO YOU CAN'T AVOID SARCOIDOSIS 6010 03:48:25,200 --> 03:48:26,880 OR GET AROUND THEM. THEY 6011 03:48:26,880 --> 03:48:28,600 EFFECTIVELY RETURNS THE STOMACH 6012 03:48:28,600 --> 03:48:30,280 EPYPHLAYMATION. BUT IN TANDEM 6013 03:48:30,280 --> 03:48:33,560 THEY CAUSE SOME PATIENTS 6014 03:48:33,560 --> 03:48:38,360 WAKE UP IMMEDIATELY, DEPRESSION, 6015 03:48:38,360 --> 03:48:43,520 SHAME DUE TO CHANGES IN APPEARANCE 6016 03:48:43,520 --> 03:48:45,240 AND ALSO MOOD SWINGS JUST FOR 6017 03:48:45,240 --> 03:48:49,000 MENTION SOME SIDE EFFECTS. SO A 6018 03:48:49,000 --> 03:48:51,720 PATIENTS EXPERIENCED WITH ANYTHING 6019 03:48:51,720 --> 03:48:53,640 THESE SIDE EFFECTS, REALLY 6020 03:48:53,640 --> 03:48:57,080 WILL FIND A 6021 03:48:57,080 --> 03:49:00,720 MEDICAL SOLUTIONS THAT CAN 6022 03:49:00,720 --> 03:49:02,200 IMPROVE THEM EVERY DAY 6023 03:49:02,200 --> 03:49:04,480 QUALITY OF LIFE. MEDICAL 6024 03:49:04,480 --> 03:49:07,680 SOLUTIONS THAT CAN REDUCE 6025 03:49:07,680 --> 03:49:12,320 INFLAMMATION BUT NOT THE CAUSE 6026 03:49:12,320 --> 03:49:14,480 DAILY LIFE DISRUPTIONS RESULT 6027 03:49:14,480 --> 03:49:15,840 FOR SIDE EFFECTS. THAT'S WHAT 6028 03:49:15,840 --> 03:49:16,960 PATIENTS LOOKING. IT 6029 03:49:16,960 --> 03:49:20,680 WORKING MOM WANTS A 6030 03:49:20,680 --> 03:49:21,960 SOLUTION WITHOUT NEEDS 6031 03:49:21,960 --> 03:49:23,040 MANAGING TEMPORARY DEPRESSION 6032 03:49:23,040 --> 03:49:24,880 PARENTING HER CHILDREN. AND 6033 03:49:24,880 --> 03:49:28,760 RESULTS VARY PER PATIENT. SO 6034 03:49:28,760 --> 03:49:35,600 AT THE BEST PHARMACY COMPANY 6035 03:49:35,600 --> 03:49:39,800 FLOWERS. WHO CAN REALLY SERVE 6036 03:49:39,800 --> 03:49:41,480 AS A BRIDGE BETWEEN PATIENTS 6037 03:49:41,480 --> 03:49:43,880 NEEDS, AND LEAD MEDICAL SOLUTIONS 6038 03:49:43,880 --> 03:49:46,360 FOR POSITIVE HEALTH RESULTS. 6039 03:49:46,360 --> 03:49:49,360 WHEN I FIRST STARTED TREATING ME 6040 03:49:49,360 --> 03:49:51,040 SARCOIDOSIS I USED PREDNISONE, 6041 03:49:51,040 --> 03:49:52,520 I FLASHED AND GOT 15 6042 03:49:52,520 --> 03:49:54,680 POUNDS. I ALSO SUFFER 6043 03:49:54,680 --> 03:49:59,000 INCREASING DEPRESSION, CLASSIC 6044 03:49:59,000 --> 03:50:01,200 MOOD -- A DAY AT WORK I 6045 03:50:01,200 --> 03:50:03,000 SEEING MY REFLECTION IN THE HALL 6046 03:50:03,000 --> 03:50:05,520 AND I FELT TEARS. that 6047 03:50:05,520 --> 03:50:07,720 MAKES ME MORE DEPRESSIONED. BY 6048 03:50:07,720 --> 03:50:09,480 TIME UNTIL MY HOUSE RUNS OUT 6049 03:50:09,480 --> 03:50:11,680 EMOTIONALLY AND THEN I REMEMBER 6050 03:50:11,680 --> 03:50:15,200 SOMETIMES MY SARCOIDOSIS -- THE 6051 03:50:15,200 --> 03:50:17,080 STRESSED THEN I WAS SUDDENLY STRESSED 6052 03:50:17,080 --> 03:50:19,000 ABOUT HOW NOT TO STRESS 6053 03:50:19,000 --> 03:50:21,520 MYSELF BECAUSE -- THAT 6054 03:50:21,520 --> 03:50:23,320 LIKE ON THE HAMSTER WHEEL AND NOT 6055 03:50:23,320 --> 03:50:24,880 GET OUT. THAT'S IT 6056 03:50:24,880 --> 03:50:26,680 THINGS LIKE THAT AFFECT IT 6057 03:50:26,680 --> 03:50:28,440 PATIENT HAPPINESS AND HAPPINESS, 6058 03:50:28,440 --> 03:50:30,200 THESE THINGS ARE VERY IMPORTANT. 6059 03:50:30,200 --> 03:50:31,400 CAN HAVE DINNER TOGETHER 6060 03:50:31,400 --> 03:50:32,960 YOUR CHILDREN AND NOT TO BE 6061 03:50:32,960 --> 03:50:35,840 TIRED, ABLE TO CLIMB A 6062 03:50:35,840 --> 03:50:36,680 FLIGHT OF THE STAIRS WITHOUT FEELINGS 6063 03:50:36,680 --> 03:50:40,120 AS YOU NEED A DEFIBRILLATOR, 6064 03:50:40,120 --> 03:50:42,040 FEEL CONFIDENCE IN WHO YOU ARE 6065 03:50:42,040 --> 03:50:44,280 EVEN IF YOU HAVE SARCOIDOSIS 6066 03:50:44,280 --> 03:50:45,240 MAY BE PRESENT ON YOUR SKIN. 6067 03:50:45,240 --> 03:50:48,000 DAILY LIFE AND QUALITY 6068 03:50:48,000 --> 03:50:50,600 LIFE IS A PYRAMID FOR THE PATIENT. 6069 03:50:50,600 --> 03:50:52,960 PATIENTS NEED PHARMACY 6070 03:50:52,960 --> 03:50:53,960 A COMPANY TO CONSIDER EVERYTHING 6071 03:50:53,960 --> 03:50:55,880 SYMPTOMS INVOLVED IN HOW SCENARIOS 6072 03:50:55,880 --> 03:50:57,280 TREATMENT WILL FIND THE PATIENT 6073 03:50:57,280 --> 03:50:58,160 ECONOMIC BACKGROUND AND 6074 03:50:58,160 --> 03:51:00,720 CREATE A PARTNERSHIP WITH 6075 03:51:00,720 --> 03:51:02,480 COMMUNITY TO FIX IT 6076 03:51:02,480 --> 03:51:04,440 MISSION AND APPROACHES TO CREATION 6077 03:51:04,440 --> 03:51:06,120 POSSIBLE SOLUTIONS. 6078 03:51:06,120 --> 03:51:09,480 >> THANK YOU, ERIKA. IT 6079 03:51:09,480 --> 03:51:11,080 AMAZING. VERY IMPORTANT. 6080 03:51:11,080 --> 03:51:13,000 ENOUGH IMPORTANT MESSAGE. 6081 03:51:13,000 --> 03:51:14,760 IMPORTANT RESULTS FOR PATIENTS 6082 03:51:14,760 --> 03:51:16,200 AND THAT'S HOW WE CAN GATHER 6083 03:51:16,200 --> 03:51:18,720 IT. THANK YOU. NEXT QUESTION 6084 03:51:18,720 --> 03:51:26,560 FOR YOU, TRISHA -- TRICHA, WHAT 6085 03:51:26,560 --> 03:51:28,960 THERE ARE SOME OF THE THINGS THAT WERE REPORTED 6086 03:51:28,960 --> 03:51:35,280 FOR PHASE 2 LEARNING TEAM IN 6087 03:51:35,280 --> 03:51:37,680 SARCO SARCOIDOSIS. 6088 03:51:37,680 --> 03:51:41,000 >> WE ARE VERY THANKFUL 6089 03:51:41,000 --> 03:51:42,320 REACH EARLY TO BE SURE 6090 03:51:42,320 --> 03:51:43,520 THE PATIENT'S VOICE IS IN 6091 03:51:43,520 --> 03:51:46,240 FROM RIL. FOUNDATION FOR 6092 03:51:46,240 --> 03:51:48,240 LEADING SARCOIDOSE RESEARCH 6093 03:51:48,240 --> 03:51:49,400 INTERNATIONAL NON-PROFIT 6094 03:51:49,400 --> 03:51:50,600 ORGANIZATION. DEDICATED TO 6095 03:51:50,600 --> 03:51:52,360 FINDING A CURE FOR SARCOIDOSIS. AND 6096 03:51:52,360 --> 03:51:54,120 IMPROVING PATIENTS' LIVES 6097 03:51:54,120 --> 03:51:55,160 THROUGH RESEARCH SUPPORT AND 6098 03:51:55,160 --> 03:51:58,360 EDUCATION. WE HAVE A STRONG ONE 6099 03:51:58,360 --> 03:51:59,520 RELATIONSHIP WITH THE WORLD 6100 03:51:59,520 --> 03:52:00,560 LEADING EXPERTS. WE HAVE A 6101 03:52:00,560 --> 03:52:02,640 FINGER ON PULSE 6102 03:52:02,640 --> 03:52:04,880 RESEARCH AND CAPABLE OF SARCOIDOSIS 6103 03:52:04,880 --> 03:52:06,240 PROVIDE USEFUL REFLECTIONS 6104 03:52:06,240 --> 03:52:07,680 FROM OUR INVOLVEMENT WITH 6105 03:52:07,680 --> 03:52:09,480 PATIENTS IN DESIRED NEEDS, 6106 03:52:09,480 --> 03:52:11,680 THEIR HOPES, AND THEIR WORRIES 6107 03:52:11,680 --> 03:52:15,480 ABOUT CLINICAL TRIALS. CLOTHING 6108 03:52:15,480 --> 03:52:16,080 ACKNOWLEDGE OUR POSITION IN 6109 03:52:16,080 --> 03:52:17,520 COMMUNITY AND WANTED 6110 03:52:17,520 --> 03:52:19,800 USEFUL WAYS FOR US TO PLAY A 6111 03:52:19,800 --> 03:52:21,680 AN IMPORTANT ROLE IN THEIR BUILDING 6112 03:52:21,680 --> 03:52:23,120 RELATIONSHIP WITH COLLEGE AND 6113 03:52:23,120 --> 03:52:25,240 WITH SUBJECT EXPERTS. 6114 03:52:25,240 --> 03:52:26,920 AND FOR PATIENT IDENTIFICATION 6115 03:52:26,920 --> 03:52:29,280 NEED TO HELP FORM A TRIAL. 6116 03:52:29,280 --> 03:52:31,600 WHAT IS UNIQUE AND DIFFERENT 6117 03:52:31,600 --> 03:52:34,080 THIS IS AN INVITATION TO FSR 6118 03:52:34,080 --> 03:52:36,040 TO HAVE A SIT AT THE TABLE AND 6119 03:52:36,040 --> 03:52:37,520 SOUND AT EVERY STAGE 6120 03:52:37,520 --> 03:52:41,080 TRIAL. NOT JUST TO PONDER AFTER 6121 03:52:41,080 --> 03:52:42,680 WRITTEN PROTOCOL OR AFTER ALL 6122 03:52:42,680 --> 03:52:45,040 THE RESULT IS SELECTED AND 6123 03:52:45,040 --> 03:52:46,680 CHECKED. LISTEN 6124 03:52:46,680 --> 03:52:47,480 PATIENCE MEANS BEING WILLING 6125 03:52:47,480 --> 03:52:50,920 TO ADAPT AND ADJUST. AND THIS IS IT 6126 03:52:50,920 --> 03:52:53,240 THAT'S REALLY WHERE CLOTHES SUPERIOR. 6127 03:52:53,240 --> 03:52:54,680 IT PLAY AN IMPORTANT ROLE 6128 03:52:54,680 --> 03:52:57,360 IN THE EXAMINATION OF SUCCESS. AS YOU HAVE HEARD 6129 03:52:57,360 --> 03:53:00,800 FROM THERE SHUKLA AND ERIKA TOGETHER 6130 03:53:00,800 --> 03:53:01,920 STEROIDS AND PAY ATTENTION 6131 03:53:01,920 --> 03:53:02,760 WHAT IS MOST IMPORTANT FOR 6132 03:53:02,760 --> 03:53:05,800 PATIENT. CLOTHING IS NOT ADVERTISING 6133 03:53:05,800 --> 03:53:07,000 FRIDAY TO ASK THE HARD QUESTIONS 6134 03:53:07,000 --> 03:53:08,680 AND EXPECT THE UNEXPECTED 6135 03:53:08,680 --> 03:53:13,600 ANSWER. ADVOCACY ORGANIZATION 6136 03:53:13,600 --> 03:53:14,880 HAVE TO WORK HERE TO DELIVER 6137 03:53:14,880 --> 03:53:15,960 TASTE HELP. I AM 6138 03:53:15,960 --> 03:53:17,440 RECOMMENDATIONS FOR ADVOCACY 6139 03:53:17,440 --> 03:53:21,120 ORGANIZATION STARTS NOW. BY 6140 03:53:21,120 --> 03:53:21,560 BUILDING GOES ON 6141 03:53:21,560 --> 03:53:22,480 RELATIONSHIP WITH YOU 6142 03:53:22,480 --> 03:53:24,880 CLINICAL, TO EDUCATE YOU 6143 03:53:24,880 --> 03:53:27,440 COMMUNITY. CONTACT 6144 03:53:27,440 --> 03:53:28,880 INDUSTRY, AND WELCOME THEM 6145 03:53:28,880 --> 03:53:30,880 YOUR TABLE AND ASK FOR THEM 6146 03:53:30,880 --> 03:53:33,800 WELCOME YOU TO THEIR TABLE. 6147 03:53:33,800 --> 03:53:36,240 SURVEY YOUR PATIENT COMMUNITY AS 6148 03:53:36,240 --> 03:53:37,760 AS YOU LEARN MORE, ASK YOU 6149 03:53:37,760 --> 03:53:40,040 A COMMUNITY TO REFLECT AND GIVE 6150 03:53:40,040 --> 03:53:41,960 FEEDBACK. OUR PARTNERSHIP 6151 03:53:41,960 --> 03:53:44,360 HAS ATIRELY CREATED A TRUE PURCHASE 6152 03:53:44,360 --> 03:53:46,440 SIGN IN AND BELIEVE IN THE COMMUNITY. 6153 03:53:46,440 --> 03:53:48,040 THE CENTER FOR ALL 6154 03:53:48,040 --> 03:53:49,480 SUCCESSFUL CLINICAL TRIALS. AND 6155 03:53:49,480 --> 03:53:51,400 THIS ALLOWS US TO DO THAT 6156 03:53:51,400 --> 03:53:53,360 WORK TOGETHER TO FINISH 6157 03:53:53,360 --> 03:53:55,000 RECRUITMENT IN ONE OF 6158 03:53:55,000 --> 03:53:56,640 THE GREATEST RESEARCH INSTRUCTOR OF 6159 03:53:56,640 --> 03:53:58,680 OUR TIME, THE EMERGENCE OF AND 6160 03:53:58,680 --> 03:54:00,960 COVID Surge. COLLABORATION IS 6161 03:54:00,960 --> 03:54:02,680 KEYS AND PROGRESS ONLY 6162 03:54:02,680 --> 03:54:04,000 MAYBE TOGETHER. 6163 03:54:04,000 --> 03:54:07,040 >> GREAT, TRICHA. I KNOW FSR IS 6164 03:54:07,040 --> 03:54:10,760 AMAZING EXAMPLE OF A 6165 03:54:10,760 --> 03:54:12,280 GREAT COLLABORATION IN THE INDUSTRY. 6166 03:54:12,280 --> 03:54:14,800 NOT JUST WITH CLOTHING. i 6167 03:54:14,800 --> 03:54:16,480 KNOW YOU ARE WORKING WITH OTHER PEOPLE 6168 03:54:16,480 --> 03:54:17,840 OTHER MEMBER ORGANIZATIONS 6169 03:54:17,840 --> 03:54:19,680 INDUSTRY. SO THIS IS GREAT 6170 03:54:19,680 --> 03:54:21,000 EXAMPLES TO SHARE WITH OTHERS. 6171 03:54:21,000 --> 03:54:24,720 THANK YOU. Dr. SHUKLA, WHAT TO DO 6172 03:54:24,720 --> 03:54:27,680 YOU DO IT TO ADAPT SPECIFICALLY 6173 03:54:27,680 --> 03:54:30,120 CHALLENGES AGAINST COVID-19 AND 6174 03:54:30,120 --> 03:54:32,040 CHALLENGES WITH REGISTRATION 6175 03:54:32,040 --> 03:54:33,840 CONTINUE WITH REGISTRATION? 6176 03:54:33,840 --> 03:54:35,280 >> THAT'S A BIG CHALLENGE. 6177 03:54:35,280 --> 03:54:37,120 AND I THINK IT WON'T HAPPEN 6178 03:54:37,120 --> 03:54:38,240 ACTUALLY -- WE WON'T HAVE 6179 03:54:38,240 --> 03:54:40,720 I HAVE GET THROUGH THIS 6180 03:54:40,720 --> 03:54:43,400 TRIALS THAT CAN BE CARRIED OUT A 6181 03:54:43,400 --> 03:54:47,120 TRIAL IS BROKEN, MANY SPONSORS 6182 03:54:47,120 --> 03:54:49,000 BIOTECHNOLOGY SPONSOR PHARMACY SPONSOR 6183 03:54:49,000 --> 03:54:51,280 TEAL WITH THIS CHALLENGE AND 6184 03:54:51,280 --> 03:54:52,600 SOMETIMES TESTS ARE -- THERE ARE 6185 03:54:52,600 --> 03:54:54,600 BROKEN. THAT'S WHERE 6186 03:54:54,600 --> 03:54:56,600 IN THE MIDDLE OF THE TEST YOU CAN'T 6187 03:54:56,600 --> 03:54:59,080 CONTINUE WITH REGISTRATION AND YOU ARE FINISHED 6188 03:54:59,080 --> 03:55:01,760 UP TO LIMITED DATA SET. TO 6189 03:55:01,760 --> 03:55:05,080 LOOK. AND IT'S VERY HARD TO 6190 03:55:05,080 --> 03:55:08,440 THEN MAKE AN APPROXIMATE ASSESSMENT 6191 03:55:08,440 --> 03:55:13,560 EFFICACY TRENDS. BACK TO WHAT 6192 03:55:13,560 --> 03:55:15,280 TRICHA SAYS, EARLY PURCHASE 6193 03:55:15,280 --> 03:55:16,960 WITH PATIENTS WHO ONLY COME IF 6194 03:55:16,960 --> 03:55:21,440 YOU HAVE TRUST. I THINK WE ARE 6195 03:55:21,440 --> 03:55:25,640 ABLE TO EARN TRUST FROM THEM 6196 03:55:25,640 --> 03:55:26,520 ORGANIZATION, I REMEMBER 6197 03:55:26,520 --> 03:55:28,000 AT FIRST IT WAS TRYING TO THINK 6198 03:55:28,000 --> 03:55:30,880 ABOUT MOVING ON SARCOIDOSIS, 6199 03:55:30,880 --> 03:55:33,480 EVEN WITH SOME MAJOR OPINIONS 6200 03:55:33,480 --> 03:55:35,880 LEADER, AND I AM NOT A 6201 03:55:35,880 --> 03:55:37,480 PULMONOLOGY BUT GETTING ONE 6202 03:55:37,480 --> 03:55:41,080 THEIR TEAM MINUTES THEIR TIME 6203 03:55:41,080 --> 03:55:42,640 MEDICAL CONFERENCE LEFT AND SAID 6204 03:55:42,640 --> 03:55:44,200 I'M GOING DOWN THE ESCALATOR, 6205 03:55:44,200 --> 03:55:46,320 TALK TO ME NOW. THEY DON'T -- SO 6206 03:55:46,320 --> 03:55:47,720 THAT'S ONE OF THESE THINGS 6207 03:55:47,720 --> 03:55:48,880 SAY LOOK I THINK I HAVE A 6208 03:55:48,880 --> 03:55:50,680 THE CONCEPT IS HERE THAT CAN 6209 03:55:50,680 --> 03:55:52,800 INTERESTING BUT FSR BRINGS SOME 6210 03:55:52,800 --> 03:55:54,880 FROM THESE EXPERTS TO THE TABLE 6211 03:55:54,880 --> 03:55:57,280 AND THEY HAVE RESPECT 6212 03:55:57,280 --> 03:55:58,840 PATIENT. SO SOMETIMES IT IS 6213 03:55:58,840 --> 03:56:01,640 IT'S NOT COMFORTABLE TO BE ABLE TO SHOW 6214 03:56:01,640 --> 03:56:03,280 AND TELL ME AND THE TRUST BEGINS 6215 03:56:03,280 --> 03:56:04,920 ALSO ABLE 6216 03:56:04,920 --> 03:56:08,640 UNDERSTAND YOU MAY NOT HEAR 6217 03:56:08,640 --> 03:56:10,080 THINGS MAY BE INSTALLED EXACTLY 6218 03:56:10,080 --> 03:56:11,280 WHAT DO YOU WANT TO DO 6219 03:56:11,280 --> 03:56:12,560 OPERATIONALLY. MAYBE BEFORE THE END 6220 03:56:12,560 --> 03:56:15,480 POINTS YOU DON'T NEED 6221 03:56:15,480 --> 03:56:17,520 THINK THAT'S SOMETHING WE ARE 6222 03:56:17,520 --> 03:56:19,680 MUST RESEARCH. WE JOIN 6223 03:56:19,680 --> 03:56:22,200 SOME IDEAS, NOT ALL. I THINK 6224 03:56:22,200 --> 03:56:23,920 GIVING AND RECEIVING ARE PART OF IT 6225 03:56:23,920 --> 03:56:25,280 WHY IT'S EFFECTIVE 6226 03:56:25,280 --> 03:56:28,880 RELATIONSHIP. ONCE THAT 6227 03:56:28,880 --> 03:56:30,120 THE FOUNDATION WAS BUILT 6228 03:56:30,120 --> 03:56:31,320 ALLOWING US DURING COVID 6229 03:56:31,320 --> 03:56:36,080 ALSO HAVE CAPABILITY 6230 03:56:36,080 --> 03:56:38,680 MARSHALL THROUGH ABSOLUTELY 6231 03:56:38,680 --> 03:56:41,880 TIMES ARE HARD TO REGISTER PATIENTS. 6232 03:56:41,880 --> 03:56:44,000 THIS HELPED CERTAIN PATIENTS ARE A 6233 03:56:44,000 --> 03:56:48,400 LEARN BLIND, FEEL BETTER. THEY 6234 03:56:48,400 --> 03:56:50,080 STARTING TO PERFORM BETTER THAN 6235 03:56:50,080 --> 03:56:54,640 DATA POINT OF VIEW. WHAT 6236 03:56:54,640 --> 03:56:56,080 PROBLEMS GETTING STEROIDS 6237 03:56:56,080 --> 03:57:01,160 AND FEEL BETTER. THE CONTINUOUS 6238 03:57:01,160 --> 03:57:02,720 PATIENTS WERE MOTIVATED IN OUR TRIALS. 6239 03:57:02,720 --> 03:57:05,400 IF I FOLLOW BIOMARKERS, 6240 03:57:05,400 --> 03:57:07,680 MAYBE IF IT'S THE MAIN ENDING 6241 03:57:07,680 --> 03:57:09,480 POINT, WE WON'T LIKE 6242 03:57:09,480 --> 03:57:14,400 SUCCESS. BUT I KNOW 6243 03:57:14,400 --> 03:57:15,600 PONT LINE PATIENTS, THEY DON'T 6244 03:57:15,600 --> 03:57:17,680 KNOW WHAT THEY ARE 6245 03:57:17,680 --> 03:57:21,280 PLACEBO OR MEDICINE. I CAN THINK OF ONE 6246 03:57:21,280 --> 03:57:23,920 PATIENTS FLYING BY HUNDREDS 6247 03:57:23,920 --> 03:57:26,640 MILES FOR THEIR MONTHLY VISITS 6248 03:57:26,640 --> 03:57:28,360 CONTINUE IN THE TRIAL. NO 6249 03:57:28,360 --> 03:57:29,680 KNOW WHAT THEY ARE, THEY 6250 03:57:29,680 --> 03:57:30,400 CONTRIBUTE TO DATA 6251 03:57:30,400 --> 03:57:34,880 ARRANGE. SOME I THINK I HAVE 6252 03:57:34,880 --> 03:57:36,840 TO DO WITH SOME EARLY 6253 03:57:36,840 --> 03:57:38,080 THE GOOD FOUNDATION WE BUILT 6254 03:57:38,080 --> 03:57:42,480 BUILD THAT TRUST WITH 6255 03:57:42,480 --> 03:57:44,480 AN ORGANIZATION TOTALLY LIKE FSR. 6256 03:57:44,480 --> 03:57:46,000 THEY KNOW US SO THEY CAN 6257 03:57:46,000 --> 03:57:49,080 ALSO SAYING THIS IS CREDIBLE 6258 03:57:49,080 --> 03:57:55,040 GROUPS AND PATIENTS INCREASE IN 6259 03:57:55,040 --> 03:57:55,920 END OF THE DAY NO 6260 03:57:55,920 --> 03:57:57,360 KNOW WHAT THEY SAY 6261 03:57:57,360 --> 03:57:58,680 THIS IS AN IMPORTANT DATA SET 6262 03:57:58,680 --> 03:58:01,880 WHAT WE CREATE IS MORE THAN JUST 6263 03:58:01,880 --> 03:58:05,200 WHAT WAS THE RESULT. BECAUSE 6264 03:58:05,200 --> 03:58:11,200 THERE IS THAT TRUST. SO WE 6265 03:58:11,200 --> 03:58:12,280 LUCKY PATIENTS CONTINUE 6266 03:58:12,280 --> 03:58:13,760 TO COME. SOME CENTERS SHOULD 6267 03:58:13,760 --> 03:58:18,840 OFF. MORE THAN OTHERS. US 6268 03:58:18,840 --> 03:58:20,760 MUST MAKE CHANGES AND 6269 03:58:20,760 --> 03:58:22,240 PROTOCOL CHANGES DUE TO SOME 6270 03:58:22,240 --> 03:58:24,680 THINGS WE CANNOT ACCESS 6271 03:58:24,680 --> 03:58:25,800 DURING COVID BUT AT THE END 6272 03:58:25,800 --> 03:58:29,680 PATIENT ENGAGEMENT DAYS 6273 03:58:29,680 --> 03:58:31,120 IN THE TEST WE ARE ALLOWED TO SEE 6274 03:58:31,120 --> 03:58:34,560 ON THIS DATA SET. AT THE END 6275 03:58:34,560 --> 03:58:36,400 TODAY WORKED WELL FOR US 6276 03:58:36,400 --> 03:58:38,000 BUT PART OF THE JOURNEY IS HERE 6277 03:58:38,000 --> 03:58:42,040 ALSO CREATE DATA THAT IS NOT 6278 03:58:42,040 --> 03:58:45,040 HAPPEN UNLESS THE PATIENT GETS IT 6279 03:58:45,040 --> 03:58:46,680 INVOLVED AND THE ONLY REASON 6280 03:58:46,680 --> 03:58:48,640 THEY GOT INVOLVED BECAUSE OF US 6281 03:58:48,640 --> 03:58:49,080 HAVE THAT FOUNDATION. 6282 03:58:49,080 --> 03:58:51,800 >> GREAT. TRICHA, QUESTION FOR 6283 03:58:51,800 --> 03:58:53,480 YOU WITH THE LUNGS 6284 03:58:53,480 --> 03:58:56,600 SARCOIDOSIS TRIAL, WHAT IS IT 6285 03:58:56,600 --> 03:58:59,480 LEARN FROM THERE FOR PATIENTS 6286 03:58:59,480 --> 03:59:00,240 PARTICIPATION, SPECIFICALLY WHATSOEVER 6287 03:59:00,240 --> 03:59:02,760 LEARNINGS YOU CAN SHARE? 6288 03:59:02,760 --> 03:59:04,640 >> I WANT TO BUILD A LITTLE 6289 03:59:04,640 --> 03:59:06,080 WHAT IS DR. SHUKLA SPEAKS 6290 03:59:06,080 --> 03:59:07,880 REGARDING COVID. AND 6291 03:59:07,880 --> 03:59:11,280 TRUST THAT HAS BEEN BUILT 6292 03:59:11,280 --> 03:59:12,400 BECAUSE I BELIEVE IN THE FORM 6293 03:59:12,400 --> 03:59:13,880 JUST A LITTLE LITTLE OF WHAT WE CAN CAPABLE 6294 03:59:13,880 --> 03:59:15,040 TO DO DURING THEIR CHALLENGE 6295 03:59:15,040 --> 03:59:19,440 TIME. SO THAT'S AS LONG AS THE FSR 6296 03:59:19,440 --> 03:59:22,120 AND ATYR WORKED CLOSELY ON 6297 03:59:22,120 --> 03:59:23,760 TURN LANDSCAPE TO PIVOT IN 6298 03:59:23,760 --> 03:59:25,480 THESE PROVISIONS ARE AND CAN BE OBTAINED 6299 03:59:25,480 --> 03:59:28,280 CONSTANT CONVERSATION. US 6300 03:59:28,280 --> 03:59:30,880 WORKING WITH TRIAL SITES, 6301 03:59:30,880 --> 03:59:32,720 SPEAK WITH THE TRIAL COORDINATOR, 6302 03:59:32,720 --> 03:59:36,200 KEEP ATYR INFORMATION AND THEY CONTINUE 6303 03:59:36,200 --> 03:59:38,520 AS TELLS A REAL BUILT SHIM 6304 03:59:38,520 --> 03:59:40,080 BEGINNING CONTINUES TO GROW 6305 03:59:40,080 --> 03:59:41,120 THE MOST CHALLENGING THING 6306 03:59:41,120 --> 03:59:42,600 THINGS YOU MAY HAVE A RISK 6307 03:59:42,600 --> 03:59:45,680 TRIAL IS COMPLETELY CLOSED. US 6308 03:59:45,680 --> 03:59:46,560 SPEAK OFTEN WITH 6309 03:59:46,560 --> 03:59:48,600 SITE TO UNDERSTAND WHAT 6310 03:59:48,600 --> 03:59:51,160 THE CHALLENGES THEY FACE AND 6311 03:59:51,160 --> 03:59:52,480 BUILD STRONG RELATIONSHIPS WITH 6312 03:59:52,480 --> 03:59:53,360 FRONT COORDINATOR 6313 03:59:53,360 --> 03:59:55,040 THESE LINE IN MANY WAYS 6314 03:59:55,040 --> 03:59:56,160 TEST AND THAT'S REALLY 6315 03:59:56,160 --> 03:59:59,600 IT'S IMPORTANT FOR US TO HAVE IT 6316 03:59:59,600 --> 04:00:00,280 OPEN A CONVERSATION TO HEAR WHAT 6317 04:00:00,280 --> 04:00:01,840 THEY ARE FACING. WE CREATE ADVERTISEMENTS 6318 04:00:01,840 --> 04:00:03,880 THE NETWORK THAT MAKES THEM POSSIBLE 6319 04:00:03,880 --> 04:00:05,200 SHARE EACH OTHER AND 6320 04:00:05,200 --> 04:00:06,480 PROVIDES BEST PRACTICE TIPS FOR 6321 04:00:06,480 --> 04:00:07,680 ANOTHER ONE MAKES IT 6322 04:00:07,680 --> 04:00:09,440 MAYBE THEY REALLY HAVE IT 6323 04:00:09,440 --> 04:00:12,880 USEFUL CONVERSATION ABOUT 6324 04:00:12,880 --> 04:00:13,880 WHY SHOULD THEY CONTINUE 6325 04:00:13,880 --> 04:00:14,640 JOURNEY TO THE EXAM AND ME 6326 04:00:14,640 --> 04:00:18,840 TRUST GAUGE. AND ENGAGE. US 6327 04:00:18,840 --> 04:00:19,960 ENCOURAGE COMMUNICATION WITH 6328 04:00:19,960 --> 04:00:21,560 DOCTOR AND SITE TRY AND LET IT GO 6329 04:00:21,560 --> 04:00:22,800 THEY KNOW ANY CHALLENGE 6330 04:00:22,800 --> 04:00:24,280 ESPECIALLY THEY FACE SO 6331 04:00:24,280 --> 04:00:27,120 SOME SOLUTIONS THAT CAN BE PROVIDED 6332 04:00:27,120 --> 04:00:28,120 PROPOSED OR DEEPLY THINKED ABOUT 6333 04:00:28,120 --> 04:00:29,680 MOMENT. WE'RE CRAZY -- BE CAREFUL 6334 04:00:29,680 --> 04:00:31,360 TO PROTECT THE ENTIRE COMMUNITY 6335 04:00:31,360 --> 04:00:32,760 UNTIL THE TEST DATE EACH STEP 6336 04:00:32,760 --> 04:00:36,920 ROAD. AND ONCE AGAIN THANK YOU 6337 04:00:36,920 --> 04:00:40,400 TO ATYR FOR HELPING DO THAT, 6338 04:00:40,400 --> 04:00:43,360 BECOME A KAYTIVE EXHUME WITH 6339 04:00:43,360 --> 04:00:44,920 THE COMMUNITY IS WANTED TO MOVE THAT 6340 04:00:44,920 --> 04:00:46,000 PROCEED. AND THIS IS IT 6341 04:00:46,000 --> 04:00:48,000 I THINK IT'S ESPECIALLY CRITICAL 6342 04:00:48,000 --> 04:00:51,320 WHEN WE THINK ABOUT COVID 6343 04:00:51,320 --> 04:00:52,520 DUE TO COVID NOISE 6344 04:00:52,520 --> 04:00:54,320 PROPERLY DOMINATE ALL DISCUSSIONS 6345 04:00:54,320 --> 04:00:56,560 NOW FOR THE LAST TWO YEARS. SO 6346 04:00:56,560 --> 04:00:57,920 FINDING WAYS TO ENSURE US 6347 04:00:57,920 --> 04:01:00,160 ABLE TO BREAK DOWN 6348 04:01:00,160 --> 04:01:03,040 THE IMPORTANCE OF PARTICIPATION 6349 04:01:03,040 --> 04:01:03,880 THIS CLINICAL TRIAL IS OVERCOMING 6350 04:01:03,880 --> 04:01:05,320 ACTIVE IN CLINICAL TRIALS AND 6351 04:01:05,320 --> 04:01:08,640 HEAR LIVE REPEATED FROM 6352 04:01:08,640 --> 04:01:10,880 ORGANIZATION AND ATYR IS 6353 04:01:10,880 --> 04:01:11,880 BE ACTIVE IN IT, TO BE SURE 6354 04:01:11,880 --> 04:01:12,960 PEOPLE KNOW THAT THIS TEST IS 6355 04:01:12,960 --> 04:01:17,520 IMPORTANT. ANYTHING 6356 04:01:17,520 --> 04:01:19,080 RESULTS. WE HAVE POSITIVE THINGS 6357 04:01:19,080 --> 04:01:20,240 RESULTS AND BE HAPPY ABOUT IT 6358 04:01:20,240 --> 04:01:21,480 BUT ANYWAY, THIS IS IMPORTANT 6359 04:01:21,480 --> 04:01:24,480 THAT THE TESTS REMAIN AHEAD AND 6360 04:01:24,480 --> 04:01:26,600 CENTER. CREATE URGENCY AROUND 6361 04:01:26,600 --> 04:01:27,520 CONSIDER THE WAY WE MIGHT WANT IT 6362 04:01:27,520 --> 04:01:29,640 TO THINK FOR THE FUTURE 6363 04:01:29,640 --> 04:01:31,920 CLINICAL DECENTRALIZATION 6364 04:01:31,920 --> 04:01:33,760 TRIAL. THE JOURNEY OF BECOMING 6365 04:01:33,760 --> 04:01:35,520 IT'S COMPLICATED. PATIENTS AT RISK 6366 04:01:35,520 --> 04:01:36,640 ESPECIALLY CONTAMINATING COVID 6367 04:01:36,640 --> 04:01:42,160 WHEN WE START THINKING ABOUT 6368 04:01:42,160 --> 04:01:43,400 SARCOIDOSIS COMMUNITY, THIS IS A 6369 04:01:43,400 --> 04:01:45,280 SERIOUS FACTORS TO PARTICIPATE. 6370 04:01:45,280 --> 04:01:46,800 IS IT NECESSARY TO SEE A DOCTOR AT ALL, 6371 04:01:46,800 --> 04:01:48,040 THAT'S ONE MORE PLACE THEY HAVE 6372 04:01:48,040 --> 04:01:49,600 TO GET OUT TO THE COMMUNITY AND 6373 04:01:49,600 --> 04:01:52,360 THEY DON'T WANT TO DO THAT 6374 04:01:52,360 --> 04:01:55,480 RISKS. WHICH GETS COMPLICATED 6375 04:01:55,480 --> 04:01:56,920 CLINICAL TRIAL FACTORS. IT 6376 04:01:56,920 --> 04:01:57,920 THE PANDEMIC CREATES A NEED 6377 04:01:57,920 --> 04:02:00,280 CONSIDER SPECIFIC CHALLENGES FOR 6378 04:02:00,280 --> 04:02:01,360 UNDERSTANDING IS SERVED 6379 04:02:01,360 --> 04:02:03,120 COMMUNITY IS MORE FUN. TO 6380 04:02:03,120 --> 04:02:04,480 YEAR OF UNSERVED POPULATION 6381 04:02:04,480 --> 04:02:07,320 HAS LIMITED ACCESS 6382 04:02:07,320 --> 04:02:09,920 CLINICAL TRIALS DUE 6383 04:02:09,920 --> 04:02:10,960 TRANSPORTATION PROBLEMS, CONCERNS 6384 04:02:10,960 --> 04:02:13,440 BY TAKING TIME OFF OR OTHERWISE 6385 04:02:13,440 --> 04:02:15,040 FINANCIAL PROBLEMS. PANDEMIC 6386 04:02:15,040 --> 04:02:16,800 HAVE STATED WHAT IT IS 6387 04:02:16,800 --> 04:02:18,880 BASICALLY AN OBLIGATED PROCESS 6388 04:02:18,880 --> 04:02:20,440 NOW IN THIS MOMENT 6389 04:02:20,440 --> 04:02:24,280 CLINICAL TRIAL MODEL. 6390 04:02:24,280 --> 04:02:26,680 >> THANK YOU. YOU MENTIONED 6391 04:02:26,680 --> 04:02:29,080 DECENTRALIZED TRIALING, DID YOU SEE IT 6392 04:02:29,080 --> 04:02:30,480 IT MAY BE SOME LEARNING 6393 04:02:30,480 --> 04:02:31,680 FROM WHAT WAS DONE 6394 04:02:31,680 --> 04:02:33,560 HOW TO TREAT RARE DISEASES 6395 04:02:33,560 --> 04:02:37,360 TRIAL CONDUCTED? OVERALL? 6396 04:02:37,360 --> 04:02:40,000 >> YES, TOTALLY PUT A 6397 04:02:40,000 --> 04:02:41,680 SPOTLIGHT ON CURRENT NEEDS, 6398 04:02:41,680 --> 04:02:42,960 COVID HAS BEEN IN THE SPOTLIGHT ON 6399 04:02:42,960 --> 04:02:44,840 NEEDED NOW. TO FOCUS 6400 04:02:44,840 --> 04:02:46,920 WHAT I THINK IS A CRACKING HOLE 6401 04:02:46,920 --> 04:02:50,000 OUR HEALTH CARE SYSTEM. IN TRYING 6402 04:02:50,000 --> 04:02:52,320 TO OVERCOME IS A NEED 6403 04:02:52,320 --> 04:02:52,920 DECENTRALIZED CLINICAL TRIALS 6404 04:02:52,920 --> 04:02:57,320 WHICH HELPED MORE EXTENTLY 6405 04:02:57,320 --> 04:02:58,440 TRIAL AND DIVERSIFICATION 6406 04:02:58,440 --> 04:02:59,760 MAKE SURE WE HAVE ALL THE VOICES 6407 04:02:59,760 --> 04:03:00,120 IN THIS TEST. 6408 04:03:00,120 --> 04:03:01,920 >> WHICH COMES TO ME NEXT 6409 04:03:01,920 --> 04:03:07,240 QUESTION FOR ERIKA. Q WHY THAT 6410 04:03:07,240 --> 04:03:08,480 IT'S IMPORTANT TO HAVE A GOOD ONE 6411 04:03:08,480 --> 04:03:09,000 REPRESENTATION IN THE CLINIC 6412 04:03:09,000 --> 04:03:10,160 TRIAL? WHAT ARE SOME OF THEM 6413 04:03:10,160 --> 04:03:11,680 WHAT YOU THINK ABOUT 6414 04:03:11,680 --> 04:03:12,280 IMPORTANT FOR THE INDUSTRY 6415 04:03:12,280 --> 04:03:15,440 CONSIDER? A TO INCREASE DIVERSITY 6416 04:03:15,440 --> 04:03:18,280 IN CLINICAL TRIALS? 6417 04:03:18,280 --> 04:03:20,200 >> IT'S IMPORTANT TO HAVE A GOOD ONE 6418 04:03:20,200 --> 04:03:20,760 REPRESENTATION IN THE CLINIC 6419 04:03:20,760 --> 04:03:22,880 TESTS BECAUSE NOT ALL 6420 04:03:22,880 --> 04:03:24,240 COMMUNITY ASSESSMENT OR NAVIGATION 6421 04:03:24,240 --> 04:03:25,880 THE DISEASE IS IN THE SAME WAY. 6422 04:03:25,880 --> 04:03:27,400 THERE ARE SEVERAL COMMUNITIES 6423 04:03:27,400 --> 04:03:29,560 MUCH HIGHER COUNTRIES AND 6424 04:03:29,560 --> 04:03:31,960 THE CONSEQUENCES ARE TERRIBLE. TO 6425 04:03:31,960 --> 04:03:33,080 EXAMPLE, BLACK AMERICAN WOMEN 6426 04:03:33,080 --> 04:03:37,040 THREE TIMES MORE LIKELY 6427 04:03:37,040 --> 04:03:38,680 DEVELOPING SARCOIDOSIS OF WHITE 6428 04:03:38,680 --> 04:03:41,720 MEN AND WOMEN. BLACK AMERICA 6429 04:03:41,720 --> 04:03:43,440 WOMEN ARE MORE SEVERE AND 6430 04:03:43,440 --> 04:03:45,440 CHRONIC FORM OF SARCOIDOSIS AND 6431 04:03:45,440 --> 04:03:47,480 HIGHER HOSPITAL RATES 6432 04:03:47,480 --> 04:03:48,760 AND DEATH. THAT WOULD BE A 6433 04:03:48,760 --> 04:03:50,000 ADDED VALUE TO CLINICAL TRIALS 6434 04:03:50,000 --> 04:03:52,440 TO GET EACH COMMUNITY RIGHT 6435 04:03:52,440 --> 04:03:54,560 SPECIFICALLY REPRESENTED BY THEM 6436 04:03:54,560 --> 04:03:57,440 LARGER COMMUNITY 6437 04:03:57,440 --> 04:03:59,480 HEALTH OUTCOMES. WHAT WE WANT 6438 04:03:59,480 --> 04:04:07,040 DO ACTUALLY GET PATIENTS 6439 04:04:07,040 --> 04:04:10,800 BRIDGES OR GATES AND MEETINGS 6440 04:04:10,800 --> 04:04:12,280 PHARMACEUTICAL COMPANIES WHERE 6441 04:04:12,280 --> 04:04:13,800 THEY WILL UNDERSTAND THAT 6442 04:04:13,800 --> 04:04:17,000 HAVE YOUR OWN COMMUNITY RIGHT 6443 04:04:17,000 --> 04:04:19,760 SPECIFICALLY REPRESENTED BY THEM 6444 04:04:19,760 --> 04:04:21,600 LIKE BLACK WOMEN WHO SUFFER MORE 6445 04:04:21,600 --> 04:04:23,600 BARRIERS TO TREATMENT. THEY WILL 6446 04:04:23,600 --> 04:04:25,680 HAS BETTER CLINICAL TRIALS. 6447 04:04:25,680 --> 04:04:27,480 ONLY 20% OF THE HEALTH RESULTS 6448 04:04:27,480 --> 04:04:28,480 DETERMINED BY YOUR SERVICES 6449 04:04:28,480 --> 04:04:30,880 RECEIVE FROM YOUR P PCP AND 6450 04:04:30,880 --> 04:04:32,080 WITHIN A LIMITS 6451 04:04:32,080 --> 04:04:35,200 Hospital. 6452 04:04:35,200 --> 04:04:37,760 DETERMINED BY DEMOGRAPHICS. 6453 04:04:37,760 --> 04:04:38,760 BLACK WOMEN NAVIGING RACIAL 6454 04:04:38,760 --> 04:04:39,360 Obstacles originating from IMMR. I AM 6455 04:04:39,360 --> 04:04:41,960 BIAS SITTING AND EXPLICITLY ROOTED 6456 04:04:41,960 --> 04:04:43,520 IN STEREOTYPE AND 6457 04:04:43,520 --> 04:04:48,280 INCORRECT DESCRIPTION. EITHER 6458 04:04:48,280 --> 04:04:49,960 FACTORS LIKE HE LOCATION 6459 04:04:49,960 --> 04:04:50,640 WANT TO WORK, KIND OF 6460 04:04:50,640 --> 04:04:52,000 INSURANCE THAT WORKS ABOVE 6461 04:04:52,000 --> 04:04:54,480 CLINICAL BARRIERS AND GENDER LAYERS 6462 04:04:54,480 --> 04:04:56,680 COMES FROM INEQUALITY. 6463 04:04:56,680 --> 04:04:58,560 LAVESLY IS SOCIAL ECONOMIC 6464 04:04:58,560 --> 04:04:59,680 BURDEN BECAUSE OF A BLACK WOMAN -- 6465 04:04:59,680 --> 04:05:01,720 WE ARE STILL SIGNIFICANTLY 6466 04:05:01,720 --> 04:05:03,400 UNDERESTIMATED AND UNDERSTANDED 6467 04:05:03,400 --> 04:05:06,080 LESS THAN OTHER ETHNIC GROUPS. 6468 04:05:06,080 --> 04:05:08,320 LOWER SOCIO-ECONOMIC STATUS WITH 6469 04:05:08,320 --> 04:05:11,120 INCOME, EMPLOYMENT OR EDUCATION 6470 04:05:11,120 --> 04:05:13,480 MAY RESULT IN DECREASED ACCESS 6471 04:05:13,480 --> 04:05:15,480 CARE OR CARE SPECIALIST. LACK 6472 04:05:15,480 --> 04:05:16,880 ACCESS TO TREATMENT, LACK 6473 04:05:16,880 --> 04:05:19,160 INSURANCE, A SEVERE CHALLENGE 6474 04:05:19,160 --> 04:05:21,200 WE ARE CONSISTENT WITH YOU 6475 04:05:21,200 --> 04:05:23,000 DUE APPOINTMENT 6476 04:05:23,000 --> 04:05:24,520 TRANSPORTATION, AND POOR 6477 04:05:24,520 --> 04:05:27,080 PROVIDER PATIENT COMMUNICATIONS. 6478 04:05:27,080 --> 04:05:28,520 THEY ARE UNDER RESEARCH AND 6479 04:05:28,520 --> 04:05:29,760 IMMEDIATE PHARMACY ROOM 6480 04:05:29,760 --> 04:05:31,960 TO CONSIDER HAVING A VARIETY 6481 04:05:31,960 --> 04:05:33,320 CLINICAL TRIALS AND AS A DOOR 6482 04:05:33,320 --> 04:05:36,520 TO LEARN MORE ABOUT 6483 04:05:36,520 --> 04:05:37,960 ACCESSIBILITY, AFFORDABILITY AND 6484 04:05:37,960 --> 04:05:39,880 POSSIBLE MONETARY EXPENSES 6485 04:05:39,880 --> 04:05:42,640 RELATED TO LONG TERM USE 6486 04:05:42,640 --> 04:05:44,560 MEDICINE SOLUTIONS FOR EVERY ETHNICITY 6487 04:05:44,560 --> 04:05:46,560 COMMUNITY. EXAMPLE IF A 6488 04:05:46,560 --> 04:05:48,240 WORKING BLACK AMERICAN MOMS 6489 04:05:48,240 --> 04:05:51,240 HAS BEEN AGGRESSIVELY ACTIVE 6490 04:05:51,240 --> 04:05:52,200 SARCOIDOSIS, HOW TO CREATE IT 6491 04:05:52,200 --> 04:05:54,280 TESTS ACCESSIBLE TO HIM 6492 04:05:54,280 --> 04:05:55,280 NO TRANSPORTATION CHARGES? 6493 04:05:55,280 --> 04:05:56,760 HOW THIS MEDICINE WAS DEVELOPED 6494 04:05:56,760 --> 04:05:59,800 ISN'T IT EXPENSIVE? AND 6495 04:05:59,800 --> 04:06:02,040 WILL THE DRUG CHALLENGE BE EASY 6496 04:06:02,040 --> 04:06:03,480 SOMATICS IN EVERYDAY LIFE? 6497 04:06:03,480 --> 04:06:05,480 WHAT IS THE LEAD TIME FOR 6498 04:06:05,480 --> 04:06:09,720 MEDICINE FOR KIKE -- KICK IN FOR 6499 04:06:09,720 --> 04:06:11,480 IMPROVING QUALITY OF LIFE BECOMES 6500 04:06:11,480 --> 04:06:13,520 BE. ALL OF THESE PERMUTATIONS 6501 04:06:13,520 --> 04:06:15,720 RESULTS SHOULD BE EXPLORE 6502 04:06:15,720 --> 04:06:18,080 AND THAT'S WHY I SOUND LIKE A 6503 04:06:18,080 --> 04:06:20,080 BROKEN RECORDS, FAIR TO HAVE IT ALL 6504 04:06:20,080 --> 04:06:21,520 THE COMMUNITY IS REPRESENTED. MORE 6505 04:06:21,520 --> 04:06:22,520 THIS IS CRITICAL FOR IMPORTANCE 6506 04:06:22,520 --> 04:06:24,760 HAVE THE MOST DESTRUCTIVE IMMUNITY 6507 04:06:24,760 --> 04:06:26,320 IMPACT REPRESENTED IN 6508 04:06:26,320 --> 04:06:29,920 TRIAL. MY THOUGHT PROCESS, HEART 6509 04:06:29,920 --> 04:06:32,320 IT FEELS AS IF YOU'RE THE MOST TREATMENT 6510 04:06:32,320 --> 04:06:33,680 VULNERABLE TO THOSE WHO SUFFER 6511 04:06:33,680 --> 04:06:34,880 FROM DISEASES, THERE ARE ALL BENEFITS 6512 04:06:34,880 --> 04:06:37,120 PATIENTS WITH DISEASES. 6513 04:06:37,120 --> 04:06:42,480 >> VERY GREAT, ERICA AND THAT 6514 04:06:42,480 --> 04:06:44,320 CUSTOMIZE KEY MESSAGES FOR 6515 04:06:44,320 --> 04:06:45,960 PHARMACY COMPANY OR 6516 04:06:45,960 --> 04:06:47,880 BIOTECHNOLOGICAL ADJUSTMENTS IN TODAY'S APPEARANCE 6517 04:06:47,880 --> 04:06:50,040 TO RUN CLINICAL TRIALS WITHIN RANGE 6518 04:06:50,040 --> 04:06:52,680 DISEASE ROOM, IT'S REALLY LIKE THAT 6519 04:06:52,680 --> 04:06:54,680 IMPORTANT MESSAGE ABOUT THIS 6520 04:06:54,680 --> 04:06:56,480 ERICA'S CONSIDERATIONS 6521 04:06:56,480 --> 04:07:00,920 REVIEWED. THANK YOU. BEFORE US 6522 04:07:00,920 --> 04:07:03,560 END OF OUR SESSION I LIKED EACH OTHER 6523 04:07:03,560 --> 04:07:05,880 REALLY PANEL MEMBERS 6524 04:07:05,880 --> 04:07:07,880 TOUCH WHAT THE LESSON IS 6525 04:07:07,880 --> 04:07:09,840 LEARN THAT INDUSTRY AND 6526 04:07:09,840 --> 04:07:11,080 ADVOCACY ORGANIZATION, MUST 6527 04:07:11,080 --> 04:07:14,880 BE AWARE TO ENSURE SUCCESS 6528 04:07:14,880 --> 04:07:17,840 CLINICAL TRIAL RECRUITMENT. US 6529 04:07:17,840 --> 04:07:22,680 YOU CAN START WITH DR. SUCLA. 6530 04:07:22,680 --> 04:07:24,640 >> CLEARLY INVOLVED 6531 04:07:24,640 --> 04:07:26,000 BEGINNING, CONSIDER IT'S SCARY TO DO 6532 04:07:26,000 --> 04:07:28,640 FROM THAT, YOU MAY GET YOUR FEEDBACK 6533 04:07:28,640 --> 04:07:30,000 YOU MAY NOT LIKE IT, YOU MAY NOT FIT IT 6534 04:07:30,000 --> 04:07:31,760 THE DEVELOPMENT PLAN YOU ARE WORKING ON 6535 04:07:31,760 --> 04:07:32,680 OUT BUT ENGAGE EARLY 6536 04:07:32,680 --> 04:07:36,080 VERY IMPORTANT. ALSO 6537 04:07:36,080 --> 04:07:39,240 UNDERSTAND THAT WHEN YOU ARE 6538 04:07:39,240 --> 04:07:42,120 IN RARE DISEASES, TRICHA YOU SAY 6539 04:07:42,120 --> 04:07:43,880 THIS, I THINK THE COORDINATOR 6540 04:07:43,880 --> 04:07:46,320 WILL HELP WITH FSR HAVE A 6541 04:07:46,320 --> 04:07:48,240 CLINICAL TRIALS NETWORK, 6542 04:07:48,240 --> 04:07:50,080 THE CONSORTIUM PEOPLE ARE RIGHT 6543 04:07:50,080 --> 04:07:54,000 DEDICATED TO THE EXISTING TRIAL SITE 6544 04:07:54,000 --> 04:07:55,560 HUGE. THAT'S WHAT I WANT 6545 04:07:55,560 --> 04:07:57,880 TO DECLARE HERE. THE LAST 6546 04:07:57,880 --> 04:07:59,680 THE COMPONENTS HERE SPEAK 6547 04:07:59,680 --> 04:08:01,720 INDUSTRIAL SIDE, UNDERSTAND 6548 04:08:01,720 --> 04:08:03,400 THAT WHEN YOU WORK AT 6549 04:08:03,400 --> 04:08:08,320 A RARE DISEASE, HOPE IS REAL 6550 04:08:08,320 --> 04:08:09,680 A POWERFUL TOOL BUT ALSO SOMETHING 6551 04:08:09,680 --> 04:08:12,560 IT COMES WITH A LOT -- YOU 6552 04:08:12,560 --> 04:08:15,360 YOU HAVE TO BE CAREFUL WITH IT 6553 04:08:15,360 --> 04:08:18,920 WHICH MEANS TRANSPARENT 6554 04:08:18,920 --> 04:08:21,280 WHAT YOUR MEDICATION IS ABOUT 6555 04:08:21,280 --> 04:08:23,360 POTENTIAL TO DO. HAVE IT 6556 04:08:23,360 --> 04:08:26,040 -- THE DIALOGUE IS WITH THE PATIENT 6557 04:08:26,040 --> 04:08:27,880 PROVIDERS, ADVOCACY GROUPS LIKE 6558 04:08:27,880 --> 04:08:30,680 FSR REALLY UNDERSTAND WORK 6559 04:08:30,680 --> 04:08:32,240 WITH THEM BECAUSE I THINK THAT'S IT 6560 04:08:32,240 --> 04:08:36,080 IT'S VERY IMPORTANT FOR US NOT TO 6561 04:08:36,080 --> 04:08:38,920 TRADE WITH THAT EXPECTATION. WE HAVE A 6562 04:08:38,920 --> 04:08:39,840 RESPONSIBILITY TO TELL US 6563 04:08:39,840 --> 04:08:42,920 WILL DO THIS CAREFULLY. . 6564 04:08:42,920 --> 04:08:46,120 AND TEST THINGS CAREFULLY ON A 6565 04:08:46,120 --> 04:08:48,240 THE MOST IMPORTANT WAY 6566 04:08:48,240 --> 04:08:51,680 HONEST FOR THE PATIENT 6567 04:08:51,680 --> 04:08:54,760 WHAT I THINK IS OUR APPROACH, WE 6568 04:08:54,760 --> 04:08:56,400 IT MAY STILL GET CRITICISM 6569 04:08:56,400 --> 04:08:57,960 ABOUT THAT. BUT IT'S NOT THERE 6570 04:08:57,960 --> 04:08:59,600 BECAUSE I THINK OUR RESULTS 6571 04:08:59,600 --> 04:09:05,440 IT WILL NOT BE LIKE DRAY MAT INK 6572 04:09:05,440 --> 04:09:06,960 UNLESS WE TAKE COLLABORATION 6573 04:09:06,960 --> 04:09:08,960 APPROACH. I HOPE THIS IS A MODEL 6574 04:09:08,960 --> 04:09:11,840 FOR TOTALLY OTHER ORGANIZATIONS 6575 04:09:11,840 --> 04:09:12,920 THINK ABOUT WORKING WITH GROUPS 6576 04:09:12,920 --> 04:09:16,600 LIKE FSR, VERY EARLY 6577 04:09:16,600 --> 04:09:19,680 UNDERSTANDING RESPONSIBILITIES 6578 04:09:19,680 --> 04:09:21,680 HAVE IT AND HELP IF YOU HAVE IT TOO 6579 04:09:21,680 --> 04:09:25,520 TIGHT WORK. 6580 04:09:25,520 --> 04:09:27,360 >> TRICHA. 6581 04:09:27,360 --> 04:09:29,720 >> THANK YOU SO MUCH, I WANT IT 6582 04:09:29,720 --> 04:09:32,000 WHAT ECHO DR. SHUKLA SAYS WITH 6583 04:09:32,000 --> 04:09:34,560 FACING EXPECTATIONS. HOPE IS VERY IMPORTANT 6584 04:09:34,560 --> 04:09:37,240 IMPORTANT AND MANDATORY 6585 04:09:37,240 --> 04:09:39,680 TREAT WITH CHILDREN'S GLOVES AND BE SURE 6586 04:09:39,680 --> 04:09:41,560 BE CAREFUL BECAUSE THIS IS THE CENTER 6587 04:09:41,560 --> 04:09:43,000 WHAT PARTS HELP PATIENTS GET 6588 04:09:43,000 --> 04:09:45,560 THROUGH EVERY DAY, WHILE LIVING 6589 04:09:45,560 --> 04:09:47,800 WITH SEVERE CHRONIC DISEASES. 6590 04:09:47,800 --> 04:09:49,240 SO ONE OF THE THINGS I'M THINKING ABOUT 6591 04:09:49,240 --> 04:09:50,880 PATIENT ADVOCACY ORGANIZATION 6592 04:09:50,880 --> 04:09:52,840 AS YOU SEE THIS, IT IS 6593 04:09:52,840 --> 04:09:58,360 TO HELP PEOPLE UNDERSTAND THAT 6594 04:09:58,360 --> 04:10:00,120 CLINICAL TRIALS ARE HOPE AND 6595 04:10:00,120 --> 04:10:00,720 EVEN CLINICAL OR NOT 6596 04:10:00,720 --> 04:10:02,080 THE TEST WAS SUCCESSFUL, THE HOPE WAS 6597 04:10:02,080 --> 04:10:04,400 IN LEARNING. AND HOPE 6598 04:10:04,400 --> 04:10:05,280 NOT ALWAYS IN THE RESULTS. 6599 04:10:05,280 --> 04:10:06,640 AND THAT'S A BIG PART OF IT 6600 04:10:06,640 --> 04:10:09,720 EDUCATION AND OUR ROLE 6601 04:10:09,720 --> 04:10:11,400 IN PLAY, IN ADVOCACY 6602 04:10:11,400 --> 04:10:12,360 ORGANIZATION TO HELP UNDERSTAND 6603 04:10:12,360 --> 04:10:14,040 WE CAN BUILD LEARNING 6604 04:10:14,040 --> 04:10:15,360 WHAT IS A TRIAL 6605 04:10:15,360 --> 04:10:17,400 SUCCESSFUL OR NOT, WE CAN BUILD IT 6606 04:10:17,400 --> 04:10:18,560 LEARN AND MOVE TOWARDS 6607 04:10:18,560 --> 04:10:23,520 A BETTER FUTURE. AGAIN THEY DID A 6608 04:10:23,520 --> 04:10:25,720 AWESOME AND AWESOME JOB 6609 04:10:25,720 --> 04:10:26,520 TEST IS SUCCESSFUL BUT WHAT 6610 04:10:26,520 --> 04:10:27,880 THAT'S -- THIS TEST 6611 04:10:27,880 --> 04:10:29,000 SUCCESS OR NOTHING 6612 04:10:29,000 --> 04:10:29,680 THE LEARNING THEY WILL DO 6613 04:10:29,680 --> 04:10:33,400 ABLE TO BUILD. AND THAT'S IT 6614 04:10:33,400 --> 04:10:35,200 WHERE HOPE IS SEEN SO I THANK YOU 6615 04:10:35,200 --> 04:10:36,480 Dr. SHUKLA TO BRING IT, 6616 04:10:36,480 --> 04:10:38,480 VERY IMPORTANT TO DO 6617 04:10:38,480 --> 04:10:40,400 SURE WE KEEP THAT HOPE 6618 04:10:40,400 --> 04:10:43,680 CAREFULLY. IF I COULD ONLY 6619 04:10:43,680 --> 04:10:45,920 PROVIDE ONE TO TAKE TO 6620 04:10:45,920 --> 04:10:47,960 INDUSTRY AND ONE TAKE TO 6621 04:10:47,960 --> 04:10:53,960 ADVOCACY, I THINK I WOULD SAY 6622 04:10:53,960 --> 04:10:56,440 THIS INDUSTRY IS IMPORTANT TO CREATE 6623 04:10:56,440 --> 04:10:58,360 WE DEFINITELY BRING ADVOCATION 6624 04:10:58,360 --> 04:10:59,680 INITIAL ORGANIZATION AND THAT 6625 04:10:59,680 --> 04:11:02,280 COMMUNICATE WITH ADVOCACY 6626 04:11:02,280 --> 04:11:03,240 ORGANIZATION IS EVERY STEP 6627 04:11:03,240 --> 04:11:09,760 ROAD. NOT JUST A FAST BEGINNING 6628 04:11:09,760 --> 04:11:12,080 CHECK CHECK OUT WHERE YOU ARE AND 6629 04:11:12,080 --> 04:11:13,800 THEN CHECKED BUT IT STILL STILL 6630 04:11:13,800 --> 04:11:14,680 ADVOCACY ORGANIZATIONS ENGAGE 6631 04:11:14,680 --> 04:11:16,080 AND IT HAS CONSTANT 6632 04:11:16,080 --> 04:11:17,880 COMMUNICATION. AND FOR FOR 6633 04:11:17,880 --> 04:11:19,440 MY ADVOCACY ORGANIZATION WILL 6634 04:11:19,440 --> 04:11:21,800 SAY, RAISE YOUR HANDS. RAISE YOU 6635 04:11:21,800 --> 04:11:24,440 VOICE AND BE HEARD. IT 6636 04:11:24,440 --> 04:11:26,440 IT'S IMPORTANT TO EXPLAIN AND LET GO 6637 04:11:26,440 --> 04:11:27,240 PHARMACY COMPANIES KNOW 6638 04:11:27,240 --> 04:11:30,000 YOU ARE HERE YOU SUPPORT 6639 04:11:30,000 --> 04:11:33,960 THEIR EFFORT TO SUPPORT YOU 6640 04:11:33,960 --> 04:11:35,080 COMMUNITY, AND YOU WANT A HEM 6641 04:11:35,080 --> 04:11:36,760 LISTEN TO WHAT THE PATIENT NEEDS 6642 04:11:36,760 --> 04:11:39,000 SAY. THIS IS IMPORTANT FOR 6643 04:11:39,000 --> 04:11:40,120 INDUSTRY AND ADVOCACY 6644 04:11:40,120 --> 04:11:41,680 ORGANIZE TO OWN THIS TRUTH 6645 04:11:41,680 --> 04:11:43,240 PARTNERSHIP IN THE PROCESS. AS 6646 04:11:43,240 --> 04:11:44,360 WE TALKED BEFORE AND 6647 04:11:44,360 --> 04:11:45,720 I THINK THIS IS TOTALLY HIS TAKE 6648 04:11:45,720 --> 04:11:47,680 HOME FROM MY PERSPECTIVE, IF YOU ARE 6649 04:11:47,680 --> 04:11:49,480 WANT TO BUILD TRUST YOU MUST 6650 04:11:49,480 --> 04:11:51,800 DONE TOGETHER. 6651 04:11:51,800 --> 04:11:52,320 >> THANK YOU 6652 04:11:52,320 --> 04:11:57,280 >> TRICHA. ERIKA, WHAT ABOUT YOU? 6653 04:11:57,280 --> 04:12:01,480 >> MY BIG RESULT IS THE PATIENTS 6654 04:12:01,480 --> 04:12:02,600 THE EXPERIENCE IS VALUABLE 6655 04:12:02,600 --> 04:12:06,040 HELPING RESEARCHERS AND 6656 04:12:06,040 --> 04:12:08,360 PHARMACEUTICAL COMPANIES CREATE 6657 04:12:08,360 --> 04:12:09,800 SOLUTIONS FOR RARE DISEASES, IT 6658 04:12:09,800 --> 04:12:12,520 IT'S IMPORTANT TO BE INTENTIONAL, 6659 04:12:12,520 --> 04:12:14,600 BRINGING PATIENTS WITH 6660 04:12:14,600 --> 04:12:15,960 VARIOUS BACKGROUNDS ON 6661 04:12:15,960 --> 04:12:17,720 TABLE, AS A BLACK AMERICAN WOMAN 6662 04:12:17,720 --> 04:12:20,960 LIVING WITH SARCOIDOSIS A 6663 04:12:20,960 --> 04:12:22,240 CONSIDER THAT CLINICAL TRIAL 6664 04:12:22,240 --> 04:12:23,800 IS ACCESSIBLE, IN 6665 04:12:23,800 --> 04:12:25,280 SOME LOCATIONS HAVE BEEN 6666 04:12:25,280 --> 04:12:26,480 CONSISTENT CHECK IN FOR 6667 04:12:26,480 --> 04:12:28,640 PATIENTS CAN'T JUST BE DISCUSSED 6668 04:12:28,640 --> 04:12:30,600 THEIR REACTION TO THE DRUG BUT 6669 04:12:30,600 --> 04:12:33,320 THEIR TEMPORARY MENTAL HEALTH STATUS 6670 04:12:33,320 --> 04:12:35,040 THROUGH TRIALS AND 6671 04:12:35,040 --> 04:12:37,880 PROCESS. AND READY TO ENGAGE 6672 04:12:37,880 --> 04:12:39,760 IN THE TRIAL AS A Stakeholder AND 6673 04:12:39,760 --> 04:12:41,200 READY TO ACKNOWLEDGE DISPARITIES 6674 04:12:41,200 --> 04:12:43,320 AND CARE IN MEDICATION FROM ME 6675 04:12:43,320 --> 04:12:45,360 RACE ETHNIC COMMUNITIES. AND me 6676 04:12:45,360 --> 04:12:47,400 WANT TO PARTICIPATE IN A 6677 04:12:47,400 --> 04:12:48,760 CLINICAL TRIALS WHERE I HAVE MORE 6678 04:12:48,760 --> 04:12:50,800 FROM THE DATA POINT, I LOOK AS 6679 04:12:50,800 --> 04:12:53,880 A TRUE PARTNER IN THE PROCESS TO 6680 04:12:53,880 --> 04:12:55,560 IMPROVE THEIR QUALITY OF LIFE 6681 04:12:55,560 --> 04:12:57,680 LIVING WITH SARCOIDOSIS. 6682 04:12:57,680 --> 04:12:59,000 BECAUSE THAT'S WHAT MATTERS 6683 04:12:59,000 --> 04:13:01,480 ALL COMMUNITIES ARE REPRESENTED 6684 04:13:01,480 --> 04:13:03,880 AND ALL DISPARITIES ARE CONSIDERED. 6685 04:13:03,880 --> 04:13:08,080 >> GREAT. THANK YOU, ERICA. 6686 04:13:08,080 --> 04:13:11,240 THANK YOU, DR. SHUKLA, TRICHA 6687 04:13:11,240 --> 04:13:13,360 AND ALL WHO JOIN TODAY. US 6688 04:13:13,360 --> 04:13:15,520 YOU HAVE DEFINITELY EXPERIENCED CHALLENGING TIMES 6689 04:13:15,520 --> 04:13:18,920 WITH THE PANDEMIC. MANY GREAT ONE 6690 04:13:18,920 --> 04:13:21,360 LESSONS HERE TODAY AND ADVICE 6691 04:13:21,360 --> 04:13:22,360 FOR CLINICAL TRIAL RECRUITMENT 6692 04:13:22,360 --> 04:13:25,160 MANY SUCCESS FUTURE. WE HAVE 6693 04:13:25,160 --> 04:13:27,720 REMEMBER THAT IS VERY IMPORTANT 6694 04:13:27,720 --> 04:13:31,280 TO UNDERSTAND ALL STAKEHOLDERS. 6695 04:13:31,280 --> 04:13:33,200 PATIENT, PATIENT PATIENT, THE 6696 04:13:33,200 --> 04:13:35,280 THE WHOLE COMMUNITY TOO 6697 04:13:35,280 --> 04:13:36,800 INCLUDES SUPERVISION AND MAINTENANCE 6698 04:13:36,800 --> 04:13:40,080 PARTNER. THEY'RE ALL SUCH 6699 04:13:40,080 --> 04:13:41,160 INTERNAL STAKEHOLDERS 6700 04:13:41,160 --> 04:13:44,320 RARE DISEASES ROOM. TO 6701 04:13:44,320 --> 04:13:48,280 SUCCESSFUL DRUG DEVELOPMENT. 6702 04:13:48,280 --> 04:13:50,280 FEEL FREE TO CONTACT US 6703 04:13:50,280 --> 04:13:51,600 BE FIRST WITH YOUR QUESTIONS 6704 04:13:51,600 --> 04:13:53,400 CONGRATULATIONS AND THANKS AGAIN FOR 6705 04:13:53,400 --> 04:14:07,880 JOIN OUR SESSION. 6706 04:14:07,880 --> 04:14:11,480 >> I AM THE EXECUTIVE DIRECTOR 6707 04:14:11,480 --> 04:14:12,680 JM HEALING FOUNDATION AND APPRECIATED 6708 04:14:12,680 --> 04:14:15,280 BECOME YOUR HOST AT NIH. US 6709 04:14:15,280 --> 04:14:17,800 TODAY'S GOAL IS TO SHARE WITH 6710 04:14:17,800 --> 04:14:19,800 YOU TELL ME HOW A RARE LITTLE ONE WAS 6711 04:14:19,800 --> 04:14:21,880 FUNDING DISEASE ORGANIZATIONS 6712 04:14:21,880 --> 04:14:22,800 RESEARCH TO FIND ONE BETTER 6713 04:14:22,800 --> 04:14:25,000 TREATMENT AND HEALING ALREADY HAVE 6714 04:14:25,000 --> 04:14:27,400 HUGE IMPACT ON THE SECTION 6715 04:14:27,400 --> 04:14:28,640 CREATING EFFECTIVE PARTNERSHIPS 6716 04:14:28,640 --> 04:14:32,160 WITH LEADING RESEARCH HOSPITALS 6717 04:14:32,160 --> 04:14:34,120 AND MOST FLOAT WITH THIS. I WILL 6718 04:14:34,120 --> 04:14:35,880 START WITH ONE MINUTE 6719 04:14:35,880 --> 04:14:37,080 BACKGROUND OF WHO WE ARE AND HOW 6720 04:14:37,080 --> 04:14:40,120 WE Evolved TO WHERE WE ARE 6721 04:14:40,120 --> 04:14:44,080 TODAY. WE WERE CREATED BY A 6722 04:14:44,080 --> 04:14:45,080 SMALL GROUPS OF PARENTS AND GRAND PEOPLE 6723 04:14:45,080 --> 04:14:46,680 PARENTS IN 2003 TO COPE 6724 04:14:46,680 --> 04:14:50,000 VERY LITTLE FACTS 6725 04:14:50,000 --> 04:14:51,560 UNDERSTANDING TEENAGERS 6726 04:14:51,560 --> 04:14:53,520 MYOSITIS. A DESTRUCTION 6727 04:14:53,520 --> 04:14:55,280 AUTOIMMUNE DISEASES IN THE BODY 6728 04:14:55,280 --> 04:14:57,720 THE IMMUNE SYSTEM ATTACKS ITSELF 6729 04:14:57,720 --> 04:15:02,040 CELLS AND TISSUES. VIA JJM 6730 04:15:02,040 --> 04:15:03,360 THE MISSION IS AROUND NOW 6731 04:15:03,360 --> 04:15:05,800 DISCOVER BETTER MISSIONS FOR JM 6732 04:15:05,800 --> 04:15:07,920 AROUND FAMILY SUPPORT LIFE 6733 04:15:07,920 --> 04:15:09,280 WITH JUVENILE MYOSITIS. WHERE 6734 04:15:09,280 --> 04:15:11,080 DOES SOMEONE START ON THE VIRTUAL GROUND 6735 04:15:11,080 --> 04:15:12,960 ZERO? WE KNOW WE HAVE TO DO IT 6736 04:15:12,960 --> 04:15:14,120 ACHIEVE THREE GOALS IF 6737 04:15:14,120 --> 04:15:16,880 WE MUST BE SUCCESSFUL. FIRST 6738 04:15:16,880 --> 04:15:19,720 WE HAVE TO RECRUIT ANOTHER FAMILY 6739 04:15:19,720 --> 04:15:21,440 AND INVOLVING AND HEALING JM'S WORK 6740 04:15:21,440 --> 04:15:22,760 BECAUSE THERE IS POWER WITHIN 6741 04:15:22,760 --> 04:15:25,040 NUMBERS AND HAVE ANOTHER ONE 6742 04:15:25,040 --> 04:15:27,720 FOR SUPPORT. BOTH WE MUST 6743 04:15:27,720 --> 04:15:29,440 BRING ANY MEDICAL AND 6744 04:15:29,440 --> 04:15:31,680 RESEARCH EXPERTS WE CAN FIND 6745 04:15:31,680 --> 04:15:33,760 INSIDE OUR TENT. IN 2003 THERE 6746 04:15:33,760 --> 04:15:35,520 ONLY A FEW OF THEM BUT 6747 04:15:35,520 --> 04:15:37,480 WE WERE LUCKY IN OUR BEGINNINGS 6748 04:15:37,480 --> 04:15:46,240 MANY YEARS OF DISCOVERING BOTH, DR. 6749 04:15:46,240 --> 04:15:49,600 LAUREN LISA RIDER WITH DR. FRED 6750 04:15:49,600 --> 04:15:51,640 RIDERS HERE AT NIH. WE NEED IT 6751 04:15:51,640 --> 04:15:53,880 CREATING WHAT IS LASTING AND SUSTAINABLE 6752 04:15:53,880 --> 04:15:55,080 PARTNERSHIPS WITH INSTITUTIONS 6753 04:15:55,080 --> 04:15:57,240 LIKE THIS, TO BENEFIT 6754 04:15:57,240 --> 04:16:00,160 VERY LARGE RESEARCH CAPACITY 6755 04:16:00,160 --> 04:16:01,840 THEY HAVE. WHAT WE DON'T KNOW 6756 04:16:01,840 --> 04:16:04,400 AT LEAST AT THE TIME IT IS 6757 04:16:04,400 --> 04:16:06,560 AMAZING PERSON AND 6758 04:16:06,560 --> 04:16:08,240 PROFESSIONAL COMMITMENT 6759 04:16:08,240 --> 04:16:11,680 RESEARCHERS AND CLINICIANS BRING IT AWAY 6760 04:16:11,680 --> 04:16:14,240 FOR YOU CAUSES OF RARE DISEASES. 6761 04:16:14,240 --> 04:16:15,680 WHICH BRINGS US TO THE FIRST ONE 6762 04:16:15,680 --> 04:16:17,680 PRESENTER DR. LISA DRIVER. Dr. 6763 04:16:17,680 --> 04:16:19,880 RIDER IS HEAD OF THE ENVIRONMENT 6764 04:16:19,880 --> 04:16:21,240 AUTO IMMUNE GROUP IN 6765 04:16:21,240 --> 04:16:22,560 NATIONAL INSTITUTE 6766 04:16:22,560 --> 04:16:24,680 ENVIRONMENTAL HEALTH SCIENCE IN 6767 04:16:24,680 --> 04:16:28,320 HERE IN BETHESDA, MARYLAND. Dr. 6768 04:16:28,320 --> 04:16:30,480 RIDE IRWAS EARLY PIONEERS IN 6769 04:16:30,480 --> 04:16:32,280 MYOSITIS RESEARCH AND IS ONE OF THE 6770 04:16:32,280 --> 04:16:36,000 ZYSIGHTIS MAINLY IN THE WORLD 6771 04:16:36,000 --> 04:16:39,600 EX-- MYOSITIS EXPERT. IN FROM US 6772 04:16:39,600 --> 04:16:40,480 FAMILY, NOT EXCESSIVE, 6773 04:16:40,480 --> 04:16:41,920 CREDITS DR. RIDER WITH RESCUE 6774 04:16:41,920 --> 04:16:45,960 THEIR CHILDREN'S LIVES. HERE FOR 6775 04:16:45,960 --> 04:16:47,400 SHARE WITH YOU HIS PERSPECTIVE 6776 04:16:47,400 --> 04:16:50,360 ABOUT THE JM NIH HEALING PARTNERSHIP 6777 04:16:50,360 --> 04:17:04,400 IS DR. LISA DRIVER. 6778 04:17:04,400 --> 04:17:07,960 >> THANK YOU, JIM FOR YOUR WARMTH 6779 04:17:07,960 --> 04:17:08,880 INTRODUCTION. LIKE 6780 04:17:08,880 --> 04:17:11,720 JOIN YOU TODAY HERE 6781 04:17:11,720 --> 04:17:15,280 RARE DISEASES DAY SESSIONS. TO 6782 04:17:15,280 --> 04:17:17,720 REVIEW OUR ENVIRONMENT 6783 04:17:17,720 --> 04:17:20,560 IMMUNITY GROUPS HAVE FOCUSED ON 6784 04:17:20,560 --> 04:17:21,440 UNDERSTANDING THE ROLE 6785 04:17:21,440 --> 04:17:23,080 ENVIRONMENTAL DISEASES AND GENES 6786 04:17:23,080 --> 04:17:24,640 MECHANISMS AND ASSESSMENT 6787 04:17:24,640 --> 04:17:28,120 AND TREATMENT OF MYOSITIS AND 6788 04:17:28,120 --> 04:17:29,360 OTHER SYSTEMIC AUTOIMMUNES 6789 04:17:29,360 --> 04:17:31,880 DISEASES IN ADULTS AND CHILDREN. 6790 04:17:31,880 --> 04:17:33,560 OUR GOAL IS TO DEVELOP 6791 04:17:33,560 --> 04:17:37,480 TARGETED THERAPY RECOMMENDED TO 6792 04:17:37,480 --> 04:17:38,880 PATOMECHANISM OF DISEASE 6793 04:17:38,880 --> 04:17:41,880 PHENOTYPE WITH PROMISE 6794 04:17:41,880 --> 04:17:43,520 INHIBITING EFFECTS 6795 04:17:43,520 --> 04:17:45,280 DIFFERENT ENVIRONMENTAL FACTORS. 6796 04:17:45,280 --> 04:17:47,120 WE HAVE DONE SOME STUDIES 6797 04:17:47,120 --> 04:17:49,120 HERE AT THE NIH CLINICAL CENTER 6798 04:17:49,120 --> 04:17:51,240 IN BETHESDA, INCLUDING SOME 6799 04:17:51,240 --> 04:17:53,560 STUDY NATURAL HISTORY 6800 04:17:53,560 --> 04:17:55,240 HAVE CHECKED THE ROLE 6801 04:17:55,240 --> 04:18:00,400 ENVIRONMENTAL GENETIC FACTORS IN 6802 04:18:00,400 --> 04:18:01,520 ESPECIALLY AUTOIMMUNE DISEASES 6803 04:18:01,520 --> 04:18:02,840 MYOSITIS AS WELL AS SOME 6804 04:18:02,840 --> 04:18:04,440 TREATMENT STUDIES INCLUDED THAT 6805 04:18:04,440 --> 04:18:07,160 RETUXIMAB IN MYOSITIS AND 6806 04:18:07,160 --> 04:18:08,600 BIOLOGICAL THERAPY AND THE CURRENT 6807 04:18:08,600 --> 04:18:11,040 REGISTER FOR IB SODIUM STUDIES 6808 04:18:11,040 --> 04:18:14,080 SULFATE FOR TREATMENT 6809 04:18:14,080 --> 04:18:15,920 RELATED OVERCALL KNOWLEDGE 6810 04:18:15,920 --> 04:18:17,840 WITH TEENAGERS AND ADULTS 6811 04:18:17,840 --> 04:18:21,120 MYOSITIS. NO MIRACLE THROUGH 6812 04:18:21,120 --> 04:18:23,280 PARTNERSHIP WITH CURE JM MORE 6813 04:18:23,280 --> 04:18:25,080 THAN HALF OF THE VAN PATIENTS 6814 04:18:25,080 --> 04:18:27,240 PATIENTS WITH JUVENILE MYOSITIS. 6815 04:18:27,240 --> 04:18:30,080 THANK YOU FOR THEIR REFERENCES. 6816 04:18:30,080 --> 04:18:31,880 REALLY THIS PARTNERSHIP WITH 6817 04:18:31,880 --> 04:18:33,800 JM'S HEALING IS ALREADY SEEN MENTALLY 6818 04:18:33,800 --> 04:18:36,080 EXPANDING OUR FOCUS ON TEENAGERS 6819 04:18:36,080 --> 04:18:39,560 SECOND DEEP MYOSITIS RESEARCH 6820 04:18:39,560 --> 04:18:43,760 EHE AND HERE. FIRST HEALING 6821 04:18:43,760 --> 04:18:46,280 TRAINING SUPPORTED BY JM AND AND OR 6822 04:18:46,280 --> 04:18:48,840 E RESEARCH SOME OF THE FOLLOWING 6823 04:18:48,840 --> 04:18:51,400 INCLUDING STARTING WITH NOROVA 6824 04:18:51,400 --> 04:18:54,120 NOW A RESEARCH ASSOCIATION IN 6825 04:18:54,120 --> 04:18:55,680 GEORGE WASHINGTON UNIVERSITY AT 6826 04:18:55,680 --> 04:18:58,880 MYOSITIS CENTER THERE. HANNAH 6827 04:18:58,880 --> 04:19:01,320 KIM WHO WORKS ON PROTEOMICS AND 6828 04:19:01,320 --> 04:19:02,760 BIOMARKER RESEARCH IS SUPPORTED 6829 04:19:02,760 --> 04:19:07,840 THROUGH ITS WORK ON THE NIPPLE. AND 6830 04:19:07,840 --> 04:19:10,760 (NOT VISIBLE) PEDIATRIC 6831 04:19:10,760 --> 04:19:12,320 RHEUMATOLOGY FROM JAPAN AS 6832 04:19:12,320 --> 04:19:14,080 AS WELL AS A RESEARCH PILLOW WITH ME 6833 04:19:14,080 --> 04:19:17,200 WHICH IS NOW AT A MEDICAL COLLEGE 6834 04:19:17,200 --> 04:19:19,080 WISCONSIN AND MANY OF THEM 6835 04:19:19,080 --> 04:19:20,920 TRAINING IS NOW FOCUSED 6836 04:19:20,920 --> 04:19:22,880 ADOLESCENT AND ADOLESCENT MYOSITIS RESEARCH 6837 04:19:22,880 --> 04:19:27,480 CLINICAL CARE. JM FUND CARE 6838 04:19:27,480 --> 04:19:30,280 SOME MAJOR COLLABORATIONS IN 6839 04:19:30,280 --> 04:19:34,480 OUR WORK INCLUDES SUPPORT FOR 6840 04:19:34,480 --> 04:19:36,840 INTERNATIONAL MYOSITIS 6841 04:19:36,840 --> 04:19:38,480 CONSORTIUM, J M CARE PROVIDED 6842 04:19:38,480 --> 04:19:40,480 FUNDING OF STUDY WORK 6843 04:19:40,480 --> 04:19:46,760 GWAS AND EXOME CHIPS IN PATIENTS 6844 04:19:46,760 --> 04:19:52,000 WITH JUVENILE DEMAT FEET 6845 04:19:52,000 --> 04:19:52,880 MYOSITIS, AS WELL AS SOME 6846 04:19:52,880 --> 04:19:55,680 OTHER RISK FACTORS. JM'S HEALING HAS BEEN 6847 04:19:55,680 --> 04:19:57,000 MORE RECENTLY FUNDED 6848 04:19:57,000 --> 04:19:59,360 POST-DOCTORAL RESEARCH 6849 04:19:59,360 --> 04:20:02,040 TRAVIS KINDER FELLOWSHIP 6850 04:20:02,040 --> 04:20:03,280 IN NCATS, THAT GROUP HAS BEEN 6851 04:20:03,280 --> 04:20:06,600 GO TO DEVELOP AN ASSAY TO 6852 04:20:06,600 --> 04:20:08,360 ASSESSING THE MOLECULAR FEATURES OF 6853 04:20:08,360 --> 04:20:10,320 MYOSITIS IN TEST TUBE AND 6854 04:20:10,320 --> 04:20:12,280 APPROVED LARGE QUANTITY OF SCREEN 6855 04:20:12,280 --> 04:20:14,720 VASION DRUGS AND AGENTS WITH 6856 04:20:14,720 --> 04:20:16,520 HOPE TO IDENTIFY THE NEW 6857 04:20:16,520 --> 04:20:19,840 MEDICINE THAT CAN HELP PATIENTS JM. 6858 04:20:19,840 --> 04:20:22,880 THEN JM'S HEALING IS ALSO THE KEY 6859 04:20:22,880 --> 04:20:25,440 INTERNATIONAL PARTNERS 6860 04:20:25,440 --> 04:20:27,320 MYOSITIS ASSESSMENT STUDY 6861 04:20:27,320 --> 04:20:28,520 SPECIAL GROUPS IN 6862 04:20:28,520 --> 04:20:29,600 DEVELOPMENT OF NEW RESPONSES 6863 04:20:29,600 --> 04:20:33,400 ADULT AND TEENAGER CRITERIA 6864 04:20:33,400 --> 04:20:36,200 MYOSITIS. INTERNATIONAL 6865 04:20:36,200 --> 04:20:37,080 MULTI-DISCIPLINARY CONSORTIUM 6866 04:20:37,080 --> 04:20:40,640 WHICH USES A GLOBAL APPROACH 6867 04:20:40,640 --> 04:20:42,200 IMPROVING TREATMENT AND 6868 04:20:42,200 --> 04:20:43,480 UNDERSTANDING MYOSITIS AND ITS CURE 6869 04:20:43,480 --> 04:20:45,080 JM WAS KEY IN PARTIAL FUNDING 6870 04:20:45,080 --> 04:20:48,120 ANALYZE AND EVEN 6871 04:20:48,120 --> 04:20:49,160 CONSENSUS CONFERENCE TO DEVELOP 6872 04:20:49,160 --> 04:20:51,360 THIS NEW RESPONSE CRITERIA. AND 6873 04:20:51,360 --> 04:20:54,120 THEREFROM IT WORKS ACR 6874 04:20:54,120 --> 04:20:55,360 RESPONSE CRITERIA DEVELOPED 6875 04:20:55,360 --> 04:20:57,040 AND NOW USED AS PLY MARE 6876 04:20:57,040 --> 04:20:59,600 END POINT FOR CLINICAL MYOSITIS 6877 04:20:59,600 --> 04:21:01,640 TRIAL. TOWARDS EXPANSION 6878 04:21:01,640 --> 04:21:03,480 NEW THERAPIES ARE BEING PURCHASED 6879 04:21:03,480 --> 04:21:07,320 MYOSITIS. AND DEVELOPED. AND 6880 04:21:07,320 --> 04:21:10,040 THIS JOB REALLY HAPPENED 6881 04:21:10,040 --> 04:21:11,560 RECOGNIZED BY GENE GLOBAL 6882 04:21:11,560 --> 04:21:13,800 THROUGH A RARE CHAMPION OF HOPE 6883 04:21:13,800 --> 04:21:15,040 RESEARCH COLLABORATION AWARD 6884 04:21:15,040 --> 04:21:16,680 FRED MILLER AND I ARE WHICH 6885 04:21:16,680 --> 04:21:17,920 LUCKY TO RECEIVE IN 6886 04:21:17,920 --> 04:21:19,360 SHERRY'S HUMAN PRESENCE, ONE OF THEM 6887 04:21:19,360 --> 04:21:24,600 FOUNDER OF JM HEALING. 6888 04:21:24,600 --> 04:21:27,080 CURE JM PARTNERS WITH FORMING 6889 04:21:27,080 --> 04:21:30,280 GW MYOSITIS CENTER, CENTER 6890 04:21:30,280 --> 04:21:33,440 WHERE IS HANNAH KIM AND ME AND LJ 6891 04:21:33,440 --> 04:21:37,480 JONES ATTENDED AN ADULT CLINIC 6892 04:21:37,480 --> 04:21:38,880 RHEUMATOLOGY FOR CONSULTATION 6893 04:21:38,880 --> 04:21:41,440 PATIENTS WITH JUVENILE MYOSITIS. 6894 04:21:41,440 --> 04:21:43,720 THIS IS A CLOSE COLLABORATION 6895 04:21:43,720 --> 04:21:44,880 BETWEEN GEORGE WASHINGTON 6896 04:21:44,880 --> 04:21:46,800 NIH UNIVERSITY AND JM HEALING. US 6897 04:21:46,800 --> 04:21:48,400 ALSO DOING TOGETHER 6898 04:21:48,400 --> 04:21:51,800 RESEARCH STUDIES TOO 6899 04:21:51,800 --> 04:21:53,480 INCLUDING CLINICAL TRIALS 6900 04:21:53,480 --> 04:21:56,000 DEVELOPING A NEW BIOLOGY 6901 04:21:56,000 --> 04:21:58,040 ADOLESCENT MYOSITIS THERAPY 6902 04:21:58,040 --> 04:21:59,920 PATIENT. WE HAVE ALSO EDUCATED 6903 04:21:59,920 --> 04:22:02,280 ADULTS IN LARGE NUMBERS 6904 04:22:02,280 --> 04:22:03,640 PEDIATRIC RHEUMATOLOGY TRAINING 6905 04:22:03,640 --> 04:22:07,200 IN THE CLINIC, CO-RESIDENT 6906 04:22:07,200 --> 04:22:10,480 MEDICAL AND VISITING STUDENTS 6907 04:22:10,480 --> 04:22:12,280 FACULTY. IT'S ALL GONE 6908 04:22:12,280 --> 04:22:14,360 ABLE TO GIVE GOOD 6909 04:22:14,360 --> 04:22:16,360 CLINICAL CARE FUTURE 6910 04:22:16,360 --> 04:22:21,280 PATIENTS WITH JUVENILE MYOSITIS. 6911 04:22:21,280 --> 04:22:25,040 OUR WORK IS SUMMARIZED IN 6912 04:22:25,040 --> 04:22:27,600 A PROCLAMATION OF THANKS IS DELIVERED 6913 04:22:27,600 --> 04:22:30,760 TO US AT THE LAST THIS IS RARE 6914 04:22:30,760 --> 04:22:32,360 DISEASE DAY, THANK YOU 6915 04:22:32,360 --> 04:22:35,480 TO NCATS, NIPPLES AND GROUP IN 6916 04:22:35,480 --> 04:22:39,680 NIEHS FOR THE WORK WE HAVE DONE. 6917 04:22:39,680 --> 04:22:41,360 IT IS A PARTNERSHIP DEDICATION 6918 04:22:41,360 --> 04:22:44,240 JM'S HEALING WITH THIS, THIS 6919 04:22:44,240 --> 04:22:45,880 PROCLAMATION THAT HELP US 6920 04:22:45,880 --> 04:22:47,760 KEEP THE SITE ON IMPORTANCE 6921 04:22:47,760 --> 04:22:48,680 FINDING BETTER TREATMENTS AND 6922 04:22:48,680 --> 04:22:50,840 HEALING OF PATIENTS WITH ADOLESCENTS 6923 04:22:50,840 --> 04:22:52,480 MYOSITIS AND FAMILY SUPPORT 6924 04:22:52,480 --> 04:22:54,440 FROM THOSE WHO LIVE WITH TEENAGERS 6925 04:22:54,440 --> 04:22:57,840 MYOSITIS. THAT -- THIS PARTNER 6926 04:22:57,840 --> 04:23:02,680 VESSELS ARE VERY KEY TO THIS JOB. 6927 04:23:02,680 --> 04:23:12,960 THANK YOU. 6928 04:23:12,960 --> 04:23:15,320 >> THANK YOU DR. RIDER. I will 6929 04:23:15,320 --> 04:23:16,800 BACK WITH QUESTIONS FOR DR. 6930 04:23:16,800 --> 04:23:18,480 RIDER AND THEN HAVE A CHANCE TO 6931 04:23:18,480 --> 04:23:20,360 AUDIENCE QUESTIONS TOO. IF 6932 04:23:20,360 --> 04:23:22,720 YOU HAVE QUESTIONS FOR DR. 6933 04:23:22,720 --> 04:23:24,520 RIDER POST IN EVENT AT QandA 6934 04:23:24,520 --> 04:23:27,520 NOW. I MENTIONED IT BEFORE 6935 04:23:27,520 --> 04:23:29,200 THE IMPORTANCE OF FAMILIES BEING INVOLVED 6936 04:23:29,200 --> 04:23:30,920 IN EVERYTHING WE DO AS A 6937 04:23:30,920 --> 04:23:32,920 RESEARCH IS SPECIFICALLY NON-PROFIT. 6938 04:23:32,920 --> 04:23:36,120 OUR NEXT GUEST IS CHRIST 6939 04:23:36,120 --> 04:23:37,840 ALDERFER, 12 YEARS VOLUNTEER WITH 6940 04:23:37,840 --> 04:23:40,000 CURE JM AND HER DAUGHTER 6941 04:23:40,000 --> 04:23:41,640 KATHERINE WAS DIAGNOSED WITH 6942 04:23:41,640 --> 04:23:43,320 ADOLESCENT MYOSITIS AT AGE 4 AND 6943 04:23:43,320 --> 04:23:45,440 STAY ON TREATMENT TODAY. 6944 04:23:45,440 --> 04:23:47,200 CHRISTINE HAS LEADED 6945 04:23:47,200 --> 04:23:47,880 MANY ARE SUPPORTED VOLUNTARILY 6946 04:23:47,880 --> 04:23:49,160 YEAR-LONG INITIATIVE. AND 6947 04:23:49,160 --> 04:23:52,440 LATEST SELECTED 6948 04:23:52,440 --> 04:23:53,840 PRESIDENT OF THE COUNCIL OF HEALING JM 6949 04:23:53,840 --> 04:23:55,800 DIRECTOR. CHRIST, I WILL 6950 04:23:55,800 --> 04:24:01,160 STARTS WITH YOU. FROM PARENTS 6951 04:24:01,160 --> 04:24:02,480 PERSPECTIVE WHY RESEARCH IS NEEDED 6952 04:24:02,480 --> 04:24:03,280 PARTNERSHIPS WITH INSTITUTIONS 6953 04:24:03,280 --> 04:24:04,200 LIKE THIS IS VERY IMPORTANT FOR 6954 04:24:04,200 --> 04:24:08,800 YOU? 6955 04:24:08,800 --> 04:24:10,880 >> THANK YOU, JIM, IN MY VIEW 6956 04:24:10,880 --> 04:24:11,800 NEEDS OF RARE DISEASE ORGANIZATIONS 6957 04:24:11,800 --> 04:24:13,240 TO FOCUS ON BETTER INVENTIONS 6958 04:24:13,240 --> 04:24:17,280 TREATMENT. I DON'T MEANT TO SAY 6959 04:24:17,280 --> 04:24:18,960 ANYONE IN THIS SESSION IS MOST RARE 6960 04:24:18,960 --> 04:24:21,280 DISEASE NOT YET APPROVED 6961 04:24:21,280 --> 04:24:22,840 TREATMENT. TO HEAL THE MADE JM 6962 04:24:22,840 --> 04:24:26,360 A FEEL TO PARTNER WITH RESEARCH 6963 04:24:26,360 --> 04:24:29,440 INSTITUTION AND WITH H NIH 6964 04:24:29,440 --> 04:24:31,040 PROBABLY THE MOST EXCELLENT RESEARCH 6965 04:24:31,040 --> 04:24:31,920 INSTITUTIONS IN THE WORLD. US 6966 04:24:31,920 --> 04:24:34,160 DID FORT MAT FIND DR. RIDER 6967 04:24:34,160 --> 04:24:36,080 AND DR. MILLER LAB HAS BEEN 6968 04:24:36,080 --> 04:24:38,080 DO SOME IMPORTANT BASICS 6969 04:24:38,080 --> 04:24:39,080 CAUSE RESEARCH 6970 04:24:39,080 --> 04:24:42,600 MYOSITIS. Dr. RIDERS WITH GRACE 6971 04:24:42,600 --> 04:24:45,200 AGREE TO JOIN A MEDICAL ADVISORY 6972 04:24:45,200 --> 04:24:46,920 BOARD AND LONG TIME WITH HELP 6973 04:24:46,920 --> 04:24:49,080 FROM FUNDING DIRECT MORE 6974 04:24:49,080 --> 04:24:51,080 ADOLESCENT MYOSITIS RESEARCH 6975 04:24:51,080 --> 04:24:53,240 DIRECTLY. AS SHE SAID, WE WERE 6976 04:24:53,240 --> 04:24:57,200 ALSO ABLE TO RECRUIT FRIENDS 6977 04:24:57,200 --> 04:24:58,440 SUPPORT JM'S SPECIAL RESEARCH 6978 04:24:58,440 --> 04:25:01,800 PROJECTS LIKE KATHERINE'S ONE 6979 04:25:01,800 --> 04:25:02,280 PARTICIPATED? . 6980 04:25:02,280 --> 04:25:04,400 >> KATHERINE, YOU ARE NOW 15 AND 6981 04:25:04,400 --> 04:25:05,400 LIVING WITH MORE DISEASES 6982 04:25:05,400 --> 04:25:09,000 THAN A DECADE. FROM A PATIENT 6983 04:25:09,000 --> 04:25:10,720 PERSPECTIVE WHAT RESEARCH DOES 6984 04:25:10,720 --> 04:25:12,760 ABOUT WHAT PARTICIPATION MEANS 6985 04:25:12,760 --> 04:25:13,280 YOU? FROM 6986 04:25:13,280 --> 04:25:14,480 >> THANK YOU FOR HAVING ME 6987 04:25:14,480 --> 04:25:18,400 TODAY. IN MARCH OF 2010, I 6988 04:25:18,400 --> 04:25:19,720 DEVELOPING A STRANGE RASH. I AM 6989 04:25:19,720 --> 04:25:20,640 PARENTS THINK THAT'S AN 6990 04:25:20,640 --> 04:25:22,000 ALLERGY TO SOMETHING. MY MOTHER 6991 04:25:22,000 --> 04:25:24,000 CHANGED ALL BEDS, SOAP 6992 04:25:24,000 --> 04:25:25,040 AND OTHERS THAT WILL BE DONE 6993 04:25:25,040 --> 04:25:28,480 IT HAS CAUSED THIS HORRIBLE RASH. 6994 04:25:28,480 --> 04:25:32,040 MY SOP PEOPLE AT THE STORE AND 6995 04:25:32,040 --> 04:25:32,560 TELL ME MILLIMETERS TO USE 6996 04:25:32,560 --> 04:25:34,480 My sunscreen, I'm getting fussy 6997 04:25:34,480 --> 04:25:36,360 TIRED, IRITABLE AND TIRED. 6998 04:25:36,360 --> 04:25:37,520 ONE DAY I COULD WALK UP 6999 04:25:37,520 --> 04:25:38,720 STAIRS IN OUR HOUSE AND NEXT 7000 04:25:38,720 --> 04:25:41,800 MY DAY CAN'T. I STARTED 7001 04:25:41,800 --> 04:25:43,280 CHOKED ON MY FOOD. MY PARENTS 7002 04:25:43,280 --> 04:25:44,680 ENCOURAGE THE DOCTOR TO TELL US WHAT 7003 04:25:44,680 --> 04:25:46,320 HAPPENED TO ME. IT TAKES 7004 04:25:46,320 --> 04:25:48,400 MONTHS AND MANY PROMISES TO 7005 04:25:48,400 --> 04:25:51,280 MAKE PROGRESS ONLY MY DAY 7006 04:25:51,280 --> 04:25:54,280 MY FOURTH BIRTHDAY WAS DIAGNOSED 7007 04:25:54,280 --> 04:25:56,600 WITH JUVENILE MYOSITIS. I AM 7008 04:25:56,600 --> 04:25:58,080 PARENTS NEVER HEARD OF IT AND 7009 04:25:58,080 --> 04:26:00,200 DOING A GOOGLE SEARCH SHOWS UP 7010 04:26:00,200 --> 04:26:01,880 What a terrible diagnosis. 7011 04:26:01,880 --> 04:26:05,240 WE RECEIVED ACAL FROM RILEY 7012 04:26:05,240 --> 04:26:07,280 CHILDREN'S HOSPITAL AT 7013 04:26:07,280 --> 04:26:09,160 INDIANAPOLIS. MY PARENTS WERE PACKED UP 7014 04:26:09,160 --> 04:26:10,840 FORD THE ER BAG AND HEAD. 7015 04:26:10,840 --> 04:26:12,680 FROM TODAY AND THE FUTURE, OUR LIVES 7016 04:26:12,680 --> 04:26:15,760 IT WILL NEVER BE THE SAME. I AM 7017 04:26:15,760 --> 04:26:19,200 DIAGNOSED WITH THIS TERM 7018 04:26:19,200 --> 04:26:20,440 DISEASES, EXISTING DISEASES 7019 04:26:20,440 --> 04:26:23,280 THERE IS NO CURE. DISEASE 7020 04:26:23,280 --> 04:26:25,440 A BODY THAT ATTACKS ITSELF. WHEN 7021 04:26:25,440 --> 04:26:27,200 YOUR MUSCLES ARE ATTACKED 7022 04:26:27,200 --> 04:26:31,600 THE DAMAGE IS PERMANENT. MY MUSCLES 7023 04:26:31,600 --> 04:26:32,640 IT HAS BEEN DESTROYED AND I HAVE 7024 04:26:32,640 --> 04:26:35,480 MORE FAILS EVERY DAY. I AM 7025 04:26:35,480 --> 04:26:36,680 IMMEDIATELY ACCEPTED AND STARTED 7026 04:26:36,680 --> 04:26:39,520 TREATMENT TO HELP. THEY STARTED 7027 04:26:39,520 --> 04:26:43,240 I AM ON LARGE DOSES OF STEROIDS AND 7028 04:26:43,240 --> 04:26:45,000 CHEMOTHERAPY. I AM FOUR AND 7029 04:26:45,000 --> 04:26:48,000 MEDIUM. THAT'S THE BEGINNING 7030 04:26:48,000 --> 04:26:49,600 12 YEARS MANY INFUSIONS 7031 04:26:49,600 --> 04:26:52,080 TREATMENT STAY AT AN ORAL HOSPITAL 7032 04:26:52,080 --> 04:26:54,080 MED, AND TRYING TO PICTURE 7033 04:26:54,080 --> 04:26:56,360 THINGS OUT. LUCKYLY MY MOTHER WAS FOUND 7034 04:26:56,360 --> 04:27:00,400 Dr. RIDERS THROUGH HEALING JM 7035 04:27:00,400 --> 04:27:00,960 FOUNDATIONS AND DRAWINGS A 7036 04:27:00,960 --> 04:27:03,720 TREATMENT PROTOCOL TO HELP ME. 7037 04:27:03,720 --> 04:27:04,960 MY FRIEND, SECOND SISTER 7038 04:27:04,960 --> 04:27:07,440 PARTICIPATE IN A STUDY WITH 7039 04:27:07,440 --> 04:27:09,280 HERE AND I'VE ALREADY LOOKED IN 7040 04:27:09,280 --> 04:27:13,440 THEIR CLINIC SEVERAL TIMES. I 7041 04:27:13,440 --> 04:27:15,080 GRATEFUL AND HAPPY FOR JM'S HEALING 7042 04:27:15,080 --> 04:27:16,280 SUPPORT RESEARCH ON THEM 7043 04:27:16,280 --> 04:27:18,880 CLINIC. PARTICIPATE IN 7044 04:27:18,880 --> 04:27:20,120 RESEARCH STUDIES ARE A THING 7045 04:27:20,120 --> 04:27:21,840 THE PATIENT VERSUS WHAT TO DO IF WE DO 7046 04:27:21,840 --> 04:27:23,280 WILL FIND THE CURE 7047 04:27:23,280 --> 04:27:26,400 ALL RARE DISEASES. SOME CHILDREN 7048 04:27:26,400 --> 04:27:29,520 WITH JM IT GETS BETTER FASTER 7049 04:27:29,520 --> 04:27:30,320 BECAUSE THERE IS 7050 04:27:30,320 --> 04:27:31,200 TREATMENTS THAT WORK BETTER THAN 7051 04:27:31,200 --> 04:27:36,720 OTHER. I HAVE TO BELIEVE IT 7052 04:27:36,720 --> 04:27:38,840 RESEARCH WILL GO BETTER 7053 04:27:38,840 --> 04:27:40,480 TREATMENT. THAT'S ONE OF THE REASONS 7054 04:27:40,480 --> 04:27:43,800 I AM INVOLVED IN RESEARCH. 7055 04:27:43,800 --> 04:27:45,560 Dr. RIDER AND OTHER PEOPLE CAN'T DO IT 7056 04:27:45,560 --> 04:27:47,040 WORK WITHOUT US. WHEN YOU 7057 04:27:47,040 --> 04:27:48,000 OUTTACHES OF OUR RESEARCH PART 7058 04:27:48,000 --> 04:27:52,520 BUILDING OUR OWN FUTURE. IT 7059 04:27:52,520 --> 04:27:53,200 VERY HELPFUL. 7060 04:27:53,200 --> 04:27:54,520 >> KATHERINE, HOW DOES IT FEEL 7061 04:27:54,520 --> 04:27:57,240 WHEN YOU GO TO THIS AND 7062 04:27:57,240 --> 04:27:58,920 PARTICIPATE IN ONE OF THE DR. RIDERS 7063 04:27:58,920 --> 04:28:00,880 OR OTHER DOCTOR'S RESEARCH 7064 04:28:00,880 --> 04:28:01,320 STUDY? 7065 04:28:01,320 --> 04:28:03,240 >> I REALLY FEEL LIKE SOMEONE 7066 04:28:03,240 --> 04:28:06,200 LOOKING FOR ME. TEENAGER 7067 04:28:06,200 --> 04:28:07,680 MYOSITIS IS A DIFFERENT DISEASE 7068 04:28:07,680 --> 04:28:09,880 FOR EVERY CHILD WHO HAS IT. THAT 7069 04:28:09,880 --> 04:28:11,360 SAY NO TWO CHILDREN ARE THE SAME. 7070 04:28:11,360 --> 04:28:13,240 AS WELL AS DOCTORS AND RESEARCHERS 7071 04:28:13,240 --> 04:28:14,320 AT ALREADY ALREADY NOTICED THAT 7072 04:28:14,320 --> 04:28:17,880 OUT. SO IT CAN BE SCARY WHILE 7073 04:28:17,880 --> 04:28:21,600 TO BE A RESEARCH STUDY, THAT IS 7074 04:28:21,600 --> 04:28:23,240 CONFIDENT TO KNOW YOU 7075 04:28:23,240 --> 04:28:24,280 HELP OTHERS AND YOU 7076 04:28:24,280 --> 04:28:27,000 MAYBE JUST HELP YOURSELF AS 7077 04:28:27,000 --> 04:28:30,480 OK. Dr. EAR KNOWLEDGE RISE 7078 04:28:30,480 --> 04:28:32,640 AND TREATMENT SAVES MANY LIVES 7079 04:28:32,640 --> 04:28:35,680 YEARS AND IT MAY HAVE BEEN SAVED 7080 04:28:35,680 --> 04:28:36,040 MINE TOO. 7081 04:28:36,040 --> 04:28:38,680 >> CHRISTINE, SUGGESTION WHAT TO DO 7082 04:28:38,680 --> 04:28:40,040 YOU HAVE FOR ANYONE INSIDE 7083 04:28:40,040 --> 04:28:42,760 AUDIENCE WHO WANT TO DEVELOP A 7084 04:28:42,760 --> 04:28:46,200 RELATIONSHIP OF RESEARCH WITH NIH? 7085 04:28:46,200 --> 04:28:46,440 spruce 7086 04:28:46,440 --> 04:28:49,800 >> IF YOU DON'T HAVE IT YET 7087 04:28:49,800 --> 04:28:51,480 CONTACTS OF SOME KINDS AT NIH 7088 04:28:51,480 --> 04:28:53,560 START ON THE WEB AND SEE WHICH IT IS 7089 04:28:53,560 --> 04:28:58,680 FROM THE NIH 27 OR INSTITUTE 7090 04:28:58,680 --> 04:28:59,880 THE CENTER MAY BE RELATED TO 7091 04:28:59,880 --> 04:29:00,880 YOUR RARE DISEASES. YOU CAN 7092 04:29:00,880 --> 04:29:03,720 SEARCH FOR RARE DISEASES HERE 7093 04:29:03,720 --> 04:29:05,560 INFORMATION ON GENETIC RARE DISEASES 7094 04:29:05,560 --> 04:29:06,880 THE CENTER YOU HEAR ABOUT 7095 04:29:06,880 --> 04:29:08,240 BEFORE THIS SESSION. YOU CAN 7096 04:29:08,240 --> 04:29:10,320 CALL A SPECIALIST ON AT 7097 04:29:10,320 --> 04:29:12,600 GARD AND INFORMATION CENTER 7098 04:29:12,600 --> 04:29:14,480 THEY HAVE A VIRTUAL EXHIBITION HERE 7099 04:29:14,480 --> 04:29:16,200 AT THE CONFERENCE SO, FEEL FREE 7100 04:29:16,200 --> 04:29:18,040 FOR THEIR SRI IN THEIR BOOTH. -- 7101 04:29:18,040 --> 04:29:19,280 VISIT THEM AT THEIR BOOTH. 7102 04:29:19,280 --> 04:29:20,680 OTHER RESEARCH AVAILABLE ARE 7103 04:29:20,680 --> 04:29:22,480 HERE'S A REPORTER YOU CAN FIND 7104 04:29:22,480 --> 04:29:25,960 AT REPORTER.NIH.GOV. YOU CAN 7105 04:29:25,960 --> 04:29:27,680 ENTER YOUR DISEASE AND FIND OUT 7106 04:29:27,680 --> 04:29:29,200 RESEARCHERS STUDY YOUR RARE 7107 04:29:29,200 --> 04:29:31,640 DISEASES AND IC NIH 7108 04:29:31,640 --> 04:29:33,360 FUNDING RESEARCH AT YOU 7109 04:29:33,360 --> 04:29:35,880 DISEASE. PATIENT'S OFFICE 7110 04:29:35,880 --> 04:29:37,440 RECRUITMENT AT THE NIH CLINIC 7111 04:29:37,440 --> 04:29:39,160 THE CENTER CAN HELP YOU 7112 04:29:39,160 --> 04:29:41,200 CLINICAL TRIAL PARTICIPATION, 7113 04:29:41,200 --> 04:29:43,240 IT'S JUST A MATTER OF REACHING OUT 7114 04:29:43,240 --> 04:29:44,040 INFORMATION SPECIALIST FOR 7115 04:29:44,040 --> 04:29:47,960 CONNECT. YOU CAN FIND PAPER 7116 04:29:47,960 --> 04:29:49,760 PUBLISHED BY OUTSIDE RESEARCHERS 7117 04:29:49,760 --> 04:29:50,880 WHICH IS HERE AND CONNECTED WITH 7118 04:29:50,880 --> 04:29:52,520 THEY. WE HAVE FOUND THAT 7119 04:29:52,520 --> 04:29:55,880 THE STAFF IS VERY RESPONSIVE AT 7120 04:29:55,880 --> 04:29:57,240 IS THERE A CURE FOR JM OR NOT? 7121 04:29:57,240 --> 04:29:58,840 SUPPORT THE PROJECT. LET ME 7122 04:29:58,840 --> 04:30:00,760 ADD MANY ADVANCED PROJECTS 7123 04:30:00,760 --> 04:30:02,120 TREAT YOUR DISEASES WITH SUPPLEMENTALS 7124 04:30:02,120 --> 04:30:04,200 FUNDING. EVEN THOUGH IT'S SMALL 7125 04:30:04,200 --> 04:30:05,480 EFFECT OF ADDITIONAL GRANTS 7126 04:30:05,480 --> 04:30:07,200 RESEARCH DIRECTIONS 7127 04:30:07,200 --> 04:30:08,600 PROJECT, IF PURPOSE OF THE GRANT 7128 04:30:08,600 --> 04:30:11,480 It makes sense to researchers. i 7129 04:30:11,480 --> 04:30:13,720 FIRST CURE SUPPORT TRUST JM 7130 04:30:13,720 --> 04:30:20,160 IT'S AROUND THERE 7131 04:30:20,160 --> 04:30:21,480 $25,000. 7132 04:30:21,480 --> 04:30:26,240 >> DR. RIDER, OTHER THAN GRANT 7133 04:30:26,240 --> 04:30:27,680 FUNDING, WHAT DO YOU THINK? 7134 04:30:27,680 --> 04:30:29,080 THE MOST DEEP VALUABLE RESEARCHER 7135 04:30:29,080 --> 04:30:31,720 PARTNERSHIPS WITH NON-PROFITS? 7136 04:30:31,720 --> 04:30:33,800 >> JIM, I THINK THIS HAS A LOT TO DO 7137 04:30:33,800 --> 04:30:36,400 TO WHAT YOU HAVE SAID IN IN IN 7138 04:30:36,400 --> 04:30:37,760 YOUR OPENING DESCRIPTION, BRING 7139 04:30:37,760 --> 04:30:39,200 IN FAMILIES AND FINDING A 7140 04:30:39,200 --> 04:30:42,440 NETWORK OF MUTUAL SUPPORT, TRUE 7141 04:30:42,440 --> 04:30:44,240 POWER IN NUMBERS. JM'S HEALING IS 7142 04:30:44,240 --> 04:30:45,920 EXTREMELY SUCCESSFUL IN ENGAGING 7143 04:30:45,920 --> 04:30:48,440 FAMILY AND WE ARE ABLE 7144 04:30:48,440 --> 04:30:50,000 TRANSLATE THAT ENGAGEMENT TO 7145 04:30:50,000 --> 04:30:52,000 RESEARCH PARTICIPATION. 7146 04:30:52,000 --> 04:30:54,480 KATHERINE IS A GREAT EXAMPLE 7147 04:30:54,480 --> 04:30:56,800 IT. AND REALLY HER OUTCOME AND 7148 04:30:56,800 --> 04:30:58,160 HOW SHE HAS DONE WITH HER 7149 04:30:58,160 --> 04:31:00,720 ILLNESS IS HEARTENING TO SEE 7150 04:31:00,720 --> 04:31:02,640 FOR YEARS. IT WAS DEPRESSING 7151 04:31:02,640 --> 04:31:04,720 CURE JM AN IMPORTANT PARTNER 7152 04:31:04,720 --> 04:31:05,880 MORE THAN RESEARCH GRANTS 7153 04:31:05,880 --> 04:31:10,280 FUNDING. 7154 04:31:10,280 --> 04:31:12,400 >> THANK YOU DR. UP IRAND 7155 04:31:12,400 --> 04:31:13,280 THANK YOU KATHERINE AND 7156 04:31:13,280 --> 04:31:16,760 CHRIST TO BE WITH US IN 7157 04:31:16,760 --> 04:31:18,080 THIS SESSION. I HOPE 7158 04:31:18,080 --> 04:31:20,800 AUDIENCES FOUND IT INFORMATIVE 7159 04:31:20,800 --> 04:31:24,040 AND WE HAVE RECEIVED MANY 7160 04:31:24,040 --> 04:31:25,280 QUESTIONS ABOUT QandA, WE HAVE 7161 04:31:25,280 --> 04:31:29,240 USING THE TIME WE ALLOTATE FOR 7162 04:31:29,240 --> 04:31:30,240 THIS SPECIAL SESSION BUT 7163 04:31:30,240 --> 04:31:32,560 WE WILL RETURN TO YOU 7164 04:31:32,560 --> 04:31:35,080 INDIVIDUALLY WITH YOUR QUESTIONS 7165 04:31:35,080 --> 04:31:36,800 WHILE THEY COME AND EXPECT YOU 7166 04:31:36,800 --> 04:31:40,080 HAVE FOUND THIS SESSION 7167 04:31:40,080 --> 04:31:42,160 VALUABLE AND INFORMATIVE 7168 04:31:42,160 --> 04:31:43,840 GET INSPIRATION ABOUT 7169 04:31:43,840 --> 04:31:46,680 TYPES OF ACTIVITIES AND ACTIONS 7170 04:31:46,680 --> 04:31:48,360 YOU CAN TAKE IT YOURSELF 7171 04:31:48,360 --> 04:31:49,600 NON-PROFIT OR IF YOU 7172 04:31:49,600 --> 04:31:50,880 THINKING ABOUT STARTING A 7173 04:31:50,880 --> 04:31:52,840 NON-PROFIT NON OR OTHERWISE 7174 04:31:52,840 --> 04:31:54,680 RESEARCH INSTITUTE AS 7175 04:31:54,680 --> 04:32:02,520 IMPORTANT PARTNERS. THANK YOU. 7176 04:32:02,520 --> 04:32:07,120 DECARBOXYLASE. 7177 04:32:07,120 --> 04:32:10,160 >> I'M TONI PEARSON, THANK YOU 7178 04:32:10,160 --> 04:32:11,920 NCATS FOR A CHANCE FOR 7179 04:32:11,920 --> 04:32:13,880 TALK TO YOU TODAY ABOUT US 7180 04:32:13,880 --> 04:32:15,560 EXPERIENCE WITH NATURAL HISTORY 7181 04:32:15,560 --> 04:32:18,640 DATA COLLECTION FOR GENE THERAPY 7182 04:32:18,640 --> 04:32:20,560 CLINICAL TRIALS FOR AADC 7183 04:32:20,560 --> 04:32:22,760 Deficiency. OUTLINE OF 7184 04:32:22,760 --> 04:32:25,080 I WILL HAVE SESSIONS 7185 04:32:25,080 --> 04:32:26,320 TALK FIRST FOR ABOUT TEN 7186 04:32:26,320 --> 04:32:28,480 A MINUTE OR SO, THEN WE TELL A 7187 04:32:28,480 --> 04:32:33,360 A LITTLE ABOUT AADC Deficiency 7188 04:32:33,360 --> 04:32:35,480 , AND GENE THERAPY 7189 04:32:35,480 --> 04:32:36,680 THE CLINICAL TRIALS WE HAVE 7190 04:32:36,680 --> 04:32:38,760 IT HAS BEEN RUNNING WITH THE SUPPORT OF NINDS 7191 04:32:38,760 --> 04:32:41,680 THE LAST FIVE YEARS. SO WILL I 7192 04:32:41,680 --> 04:32:43,160 TALK ABOUT OUR EXPERIENCE WITH 7193 04:32:43,160 --> 04:32:44,680 NATURAL HISTORY DATA COLLECTION 7194 04:32:44,680 --> 04:32:46,800 PART OF THE STUDY. AND THEN WE 7195 04:32:46,800 --> 04:32:50,320 WOULD BE GLAD TO INTRODUCE 7196 04:32:50,320 --> 04:32:51,760 PARENTS OF CHILDREN 7197 04:32:51,760 --> 04:32:54,280 PARTICIPATE IN OUR RESEARCH AS 7198 04:32:54,280 --> 04:32:59,200 GOOD, SHILLAN RODRIGUEZ PENA. IN 7199 04:32:59,200 --> 04:33:00,760 FINALLY WE'LL HAVE A FEW MINUTES 7200 04:33:00,760 --> 04:33:02,320 FOR OUR DISCUSSION AND ALSO HOPE 7201 04:33:02,320 --> 04:33:03,800 FOR THOSE WHO MAY BE WATCHING 7202 04:33:03,800 --> 04:33:05,520 THIS IS ON OUR LIVE STREAM DAY 7203 04:33:05,520 --> 04:33:07,960 WILL BE AVAILABLE FOR PICK UP 7204 04:33:07,960 --> 04:33:10,120 INQUIRIES VIA THE WEBSITE 7205 04:33:10,120 --> 04:33:14,400 AFTER THE SESSION TOO. AS 7206 04:33:14,400 --> 04:33:16,680 BRIEF INTRODUCTION AADC 7207 04:33:16,680 --> 04:33:18,800 THE DEFICIENCY IS A VERY RARE GENETIC DEFICIENCY 7208 04:33:18,800 --> 04:33:21,520 DISORDERS OF NEURODEL DEVELOPMENT. 7209 04:33:21,520 --> 04:33:22,720 THERE ARE AT LEAST 150 7210 04:33:22,720 --> 04:33:26,280 CASES REPORTED IN -- AND 7211 04:33:26,280 --> 04:33:29,760 MORE DIAGNOSED BUT THE NUMBERS 7212 04:33:29,760 --> 04:33:34,680 IN HUNDREDS AROUND THE WORLD. IT 7213 04:33:34,680 --> 04:33:35,880 BASIC CAUSES OF DISEASE 7214 04:33:35,880 --> 04:33:39,440 IS THE BRAIN DEFICIENT AADC 7215 04:33:39,440 --> 04:33:41,920 ENZYMES ARE NEEDED TO MAKE DOPAMINE 7216 04:33:41,920 --> 04:33:43,520 AND SEROTONIN, THE TWO 7217 04:33:43,520 --> 04:33:45,560 IMPORTANT NEUROTRANSMITTERS IN 7218 04:33:45,560 --> 04:33:48,400 BRAIN. AND THE DISEASE 7219 04:33:48,400 --> 04:33:50,680 IT USUALLY STARTS IN BABIES WITH 7220 04:33:50,680 --> 04:33:52,600 SYMPTOMS INCLUDING OCULAR 7221 04:33:52,600 --> 04:33:54,080 LIVE CRISIS AS YOU CAN 7222 04:33:54,080 --> 04:33:57,080 LOOK AT THE VIDEO HERE, YOUNG MAN 7223 04:33:57,080 --> 04:34:00,400 A BOY WHO EXPERIENCED A CRISIS, WITH 7224 04:34:00,400 --> 04:34:01,480 INVOLUNTARY MOVEMENT 7225 04:34:01,480 --> 04:34:06,080 EYES, HEAD AND WHOLE BODY 7226 04:34:06,080 --> 04:34:07,480 THEY ARE VERY REGRETTING 7227 04:34:07,480 --> 04:34:09,000 EPISODES THAT COULD END IN NUMBERS 7228 04:34:09,000 --> 04:34:11,360 WATCHES, BABIES HAVE TOO 7229 04:34:11,360 --> 04:34:14,680 ESPECIALLY LOW MUSCLE TONE, NO 7230 04:34:14,680 --> 04:34:17,720 RANGE IN VOLUNTARY AND MOVEMENT 7231 04:34:17,720 --> 04:34:19,480 MOOD DISORDER SLEEP FOREVER 7232 04:34:19,480 --> 04:34:22,040 WITH OTHER SYMPTOMS. AND 7233 04:34:22,040 --> 04:34:24,080 DISEASES ALSO HAVE IMPORTANCE 7234 04:34:24,080 --> 04:34:26,800 IMPACT ON MOTORCYCLE AND INTELLECTUALITY 7235 04:34:26,800 --> 04:34:28,680 DEVELOPMENT WITH THE MOST PATIENTS 7236 04:34:28,680 --> 04:34:30,120 WHICH HAVE BEEN REPORTED TO DATE 7237 04:34:30,120 --> 04:34:32,360 HAVE MODERATE TO SEVERE 7238 04:34:32,360 --> 04:34:35,200 DEVELOPMENT DISTURBANCE. 7239 04:34:35,200 --> 04:34:36,640 MEDICATION FOR THIS CONDITION 7240 04:34:36,640 --> 04:34:40,360 USUALLY NOT EFFECTIVE 7241 04:34:40,360 --> 04:34:42,560 IT'S ALREADY A DIFFICULT DISEASE TO 7242 04:34:42,560 --> 04:34:48,480 CARE FOR A LONG TIME. SO GENE 7243 04:34:48,480 --> 04:34:52,360 THERAPY USING THE AADC GENE VECTOR 7244 04:34:52,360 --> 04:34:56,720 GO TO PLACE -- REPLACE AADC 7245 04:34:56,720 --> 04:34:57,440 INITIAL FUNCTION STARTED A 7246 04:34:57,440 --> 04:34:59,480 ACTUAL NUMBER OF YEARS AGO AS 7247 04:34:59,480 --> 04:35:01,720 TREATMENT STRATEGIES FOR 7248 04:35:01,720 --> 04:35:02,880 PARKINSON'S DISEASE. AND THERE 7249 04:35:02,880 --> 04:35:05,920 THERE ARE SOME OF THE FIRST PUBLICATIONS 7250 04:35:05,920 --> 04:35:08,280 PUBLICATIONS FOR THOSE OF 7251 04:35:08,280 --> 04:35:09,400 2008, 2009 AND AS YOU CAN 7252 04:35:09,400 --> 04:35:10,440 IMAGINE THE YEARS 7253 04:35:10,440 --> 04:35:13,960 PRECLINICAL WORK BEFORE THAT. 7254 04:35:13,960 --> 04:35:16,320 IT'S DEFINITELY A GOOD CANDIDATE 7255 04:35:16,320 --> 04:35:19,920 AADC TREATMENT STRATEGIES 7256 04:35:19,920 --> 04:35:22,120 DISADVANTAGES AND AFTER SOME 7257 04:35:22,120 --> 04:35:25,320 YEARS OF WORK TO DEVELOP 7258 04:35:25,320 --> 04:35:27,720 TREATMENT STRATEGIES THAT WILL BE CARRIED OUT 7259 04:35:27,720 --> 04:35:29,520 SUITABLE FOR CHILDREN WITH 7260 04:35:29,520 --> 04:35:34,200 AADC Deficiency WE STARTED AN 7261 04:35:34,200 --> 04:35:37,720 PHASE 1, 2 TRIALS SPONSORED BY NINDS 7262 04:35:37,720 --> 04:35:41,280 THE YEAR IS 2016 AND PI IS 7263 04:35:41,280 --> 04:35:42,360 (INVISIBLE). IN THIS STUDY 7264 04:35:42,360 --> 04:35:45,640 WHAT WE DO AS YOU SEE 7265 04:35:45,640 --> 04:35:47,720 IT WAS A BRAIN MRI SCAN 7266 04:35:47,720 --> 04:35:51,640 ONE OF OUR PATIENTS, PURPOSE 7267 04:35:51,640 --> 04:35:55,080 IS TO DO NERVE SURGERY 7268 04:35:55,080 --> 04:35:58,280 PROCEDURE THAT GIVES AN INFUS 7269 04:35:58,280 --> 04:36:01,080 AADC TO MID GENE VECTOR 7270 04:36:01,080 --> 04:36:02,080 BRAIN, FAR TO THE CENTER 7271 04:36:02,080 --> 04:36:07,560 BRAIN. AND EARLY 7272 04:36:07,560 --> 04:36:09,280 SEVEN PATIENTS ARE REGISTERED 7273 04:36:09,280 --> 04:36:10,840 IN THE TRIAL IT IS EXPLAINED IN 7274 04:36:10,840 --> 04:36:14,120 IN-OUT PUBLICATIONS 7275 04:36:14,120 --> 04:36:17,560 2021. WE NOW CONTINUE 7276 04:36:17,560 --> 04:36:18,680 REGISTER FOR PATIENTS -- 7277 04:36:18,680 --> 04:36:19,720 MORE PATIENTS UP NEXT 7278 04:36:19,720 --> 04:36:22,080 THIS PHASE OF CLINICAL TRIALS. 7279 04:36:22,080 --> 04:36:25,480 SO WHILE WE DEVELOP 7280 04:36:25,480 --> 04:36:29,120 LEARN BEFORE 2016 STARTS 7281 04:36:29,120 --> 04:36:30,800 ONE OF THE IMPORTANT QUESTIONS 7282 04:36:30,800 --> 04:36:31,960 WHO COMES FOR THE CLINICAL 7283 04:36:31,960 --> 04:36:33,080 TRY ON, WHAT SIZE IS IT 7284 04:36:33,080 --> 04:36:37,640 RELEVANT FOR CLINICAL MEASUREMENT 7285 04:36:37,640 --> 04:36:41,520 CHANGE? WE ARE LUCKY 7286 04:36:41,520 --> 04:36:44,280 HAS LARGE ADC RESOURCES 7287 04:36:44,280 --> 04:36:45,240 RESEARCH TRUST IN SOCIETY 7288 04:36:45,240 --> 04:36:52,680 INTERNATIONAL FAMILY, WHO 7289 04:36:52,680 --> 04:36:54,040 HELP ANSWER THIS QUESTION AT 7290 04:36:54,040 --> 04:36:58,680 FAMILY MEETING IN 2014 WHEN I 7291 04:36:58,680 --> 04:37:00,480 ASK PARENTS QUESTIONS 7292 04:37:00,480 --> 04:37:01,640 WHAT CHALLENGES THEY FACE 7293 04:37:01,640 --> 04:37:07,600 THEIR CHILDREN AND WHICH 7294 04:37:07,600 --> 04:37:09,080 BIGGEST FOR THIS EM. TWO STANDING 7295 04:37:09,080 --> 04:37:10,440 OUT. WHEN WE DO THIS BECAUSE OF IT 7296 04:37:10,440 --> 04:37:12,400 IT'S CLEARLY CLINICAL WHAT WE THINK ABOUT 7297 04:37:12,400 --> 04:37:17,360 WE HAVE AN IDEA OF WHAT 7298 04:37:17,360 --> 04:37:18,160 IMPORTANT SYMPTOMS FOR 7299 04:37:18,160 --> 04:37:19,480 PATIENTS AND FAMILIES, THAT 7300 04:37:19,480 --> 04:37:21,640 ALWAYS A GOOD IDEA TO HAVE 7301 04:37:21,640 --> 04:37:28,240 THE FAMILY AGREES. BE ONE OF 7302 04:37:28,240 --> 04:37:30,840 THE SYMPTOMS MENTIONED ARE 7303 04:37:30,840 --> 04:37:32,600 I DESCRIPTION AND SHARE ADVERTISING VIDEOS 7304 04:37:32,600 --> 04:37:35,880 FOR BEFORE, OTHER MAINS 7305 04:37:35,880 --> 04:37:42,320 POINTS THAT ARISE FROM THIS QUESTION 7306 04:37:42,320 --> 04:37:44,280 SESSION IS MOTOR DISABLE, LEVEL 7307 04:37:44,280 --> 04:37:47,600 MOTORCYCLE DISABLED OR 7308 04:37:47,600 --> 04:37:48,680 DEVELOPMENTAL DISABLED, 7309 04:37:48,680 --> 04:37:50,240 CONDITIONS TWO THINGS ARE POSSIBLE 7310 04:37:50,240 --> 04:37:55,280 SERVING MOST FAMILIES. IT 7311 04:37:55,280 --> 04:37:56,720 ACCORDING TO WHAT WE THINK 7312 04:37:56,720 --> 04:38:02,280 IMPORTANT FEATURES TO CAPTURE. 7313 04:38:02,280 --> 04:38:04,880 IN THE MYSTERY OF NATURE THE DATA IS VERY MUCH 7314 04:38:04,880 --> 04:38:05,760 IMPORTANT FOR OUR CLINICAL TRIALS 7315 04:38:05,760 --> 04:38:09,080 CAN YOU THINK OF SOME REASONS WHY 7316 04:38:09,080 --> 04:38:11,040 SPECIFICALLY. IN CLINICAL TRIALS 7317 04:38:11,040 --> 04:38:13,320 WE CONDUCTED A RESEARCH STUDY ON 7318 04:38:13,320 --> 04:38:15,680 A NEW AND SAFE TREATMENT ACID 7319 04:38:15,680 --> 04:38:19,480 EFFECTIVE. THIS IS EXPLAINED 7320 04:38:19,480 --> 04:38:20,600 PURPOSE OF THE DISEASE IS NOT GIVEN 7321 04:38:20,600 --> 04:38:27,720 TREATMENT OF SOME THINGS THAT WE DO 7322 04:38:27,720 --> 04:38:32,800 WE ARE THINKING, IF WE LOOK AT A 7323 04:38:32,800 --> 04:38:34,280 REPLACE WITH A NEW CHANGE TO TREATMENT 7324 04:38:34,280 --> 04:38:39,480 BECAUSE OF TREATMENT OR BECAUSE OF 7325 04:38:39,480 --> 04:38:41,760 DISEASE? WE MAY CONSIDER A MOTORCYCLE 7326 04:38:41,760 --> 04:38:42,880 ONE OF THE IMPORTANT FUNCTIONS 7327 04:38:42,880 --> 04:38:45,480 STEPS WE ARE REVIEWING. IF 7328 04:38:45,480 --> 04:38:48,880 IT WILL CHANGE OR START 7329 04:38:48,880 --> 04:38:51,200 CHANGED UPON DELIVERY 7330 04:38:51,200 --> 04:38:55,480 WHAT IS THE NEW TREATMENT? 7331 04:38:55,480 --> 04:38:57,680 WILL HAPPEN INSIDE 7332 04:38:57,680 --> 04:38:59,040 THE GOAL IS, IF IT'S NATURAL 7333 04:38:59,040 --> 04:39:00,600 HISTORY IS THAT DIRECTORY 7334 04:39:00,600 --> 04:39:02,200 WHEN WE CONSIDER TREATMENT IS 7335 04:39:02,200 --> 04:39:06,240 HELP. AND THE SECOND WAY IS NATURAL 7336 04:39:06,240 --> 04:39:09,800 HISTORY HELP US TOO INSIDE 7337 04:39:09,800 --> 04:39:10,560 HELP TO UNDERSTAND 7338 04:39:10,560 --> 04:39:14,280 MEASURING CHANGES IN SYMPTOMS. 7339 04:39:14,280 --> 04:39:17,960 IF WE HAVE ANY SUCH SYMPTOMS 7340 04:39:17,960 --> 04:39:23,040 CRISIS TO MEASURE HOW SHY VEER IS 7341 04:39:23,040 --> 04:39:26,120 THIS IS BEFORE ANY TREATMENT 7342 04:39:26,120 --> 04:39:27,800 GIVEN, IF WE HAVE A TASTE 7343 04:39:27,800 --> 04:39:29,320 MEASUREMENT OVER TIME IS 7344 04:39:29,320 --> 04:39:30,600 STABLE, EASY TO DETECTION 7345 04:39:30,600 --> 04:39:34,960 CHANGES. ON THE OTHER HAND IF WE 7346 04:39:34,960 --> 04:39:37,640 FIND THEM VARY 7347 04:39:37,640 --> 04:39:40,040 HARDER. SO THAT HELP US 7348 04:39:40,040 --> 04:39:41,920 TO KNOW HOW ACCURATELY 7349 04:39:41,920 --> 04:39:48,360 SIZE. AS PART OF GENE THERAPY 7350 04:39:48,360 --> 04:39:49,920 TRY OUT, THIS IS ALSO A SPONSOR AND 7351 04:39:49,920 --> 04:39:54,960 SUPPORT US TO DO ADDITIONALLY 7352 04:39:54,960 --> 04:39:56,880 NATURAL HISTORY COLLECTION. US 7353 04:39:56,880 --> 04:39:59,280 THE CHALLENGE FOR THIS IS LIKE US 7354 04:39:59,280 --> 04:40:02,520 FACING MANY RARE DISEASES 7355 04:40:02,520 --> 04:40:05,440 PATIENTS SCATTERED AROUND 7356 04:40:05,440 --> 04:40:09,480 GEOGRAPHICALLY FAR FROM ONE 7357 04:40:09,480 --> 04:40:14,240 OTHER. WE HAVE 12 PARTICIPANTS 7358 04:40:14,240 --> 04:40:15,560 NINE IN NORTH AMERICA, LIKE YOU 7359 04:40:15,560 --> 04:40:16,880 CAN SEE FROM COAST TO COAST 7360 04:40:16,880 --> 04:40:21,480 ALL OVER THE COUNTRY HERE, THIS 7361 04:40:21,480 --> 04:40:23,480 I'M AT ST. LOUIS. NOT EASY TO 7362 04:40:23,480 --> 04:40:25,600 PEOPLE DRIVE TO SEE ME 7363 04:40:25,600 --> 04:40:31,480 CLINIC. AS YOU CAN IMAGINE. WE 7364 04:40:31,480 --> 04:40:33,360 DECIDE ON THE MOST STRATEGY 7365 04:40:33,360 --> 04:40:34,400 VISIT HOME TO SEE THIS 7366 04:40:34,400 --> 04:40:39,920 PATIENT. PATIENTS WITH AADC 7367 04:40:39,920 --> 04:40:42,720 Medical deficiency 7368 04:40:42,720 --> 04:40:45,320 FRAGILE, DIFFICULT FOR THE FAMILY 7369 04:40:45,320 --> 04:40:48,360 FOR TRAVEL TO AND FROM AROUND 7370 04:40:48,360 --> 04:40:51,680 COUNTRY. SO I WANT TO TRY 7371 04:40:51,680 --> 04:40:56,600 REDUCE THAT LOAD. AND SRI PLAN 7372 04:40:56,600 --> 04:40:59,480 IS IT MORE THAN A TWO YEAR PERIOD. 7373 04:40:59,480 --> 04:41:01,080 VISIT. AS YOU CAN IMAGINE 7374 04:41:01,080 --> 04:41:03,480 MATHEMATICS ONCE INTO THIS US 7375 04:41:03,480 --> 04:41:04,640 RECRUITED - ALL 12 PATIENTS 7376 04:41:04,640 --> 04:41:07,880 IN A ONE YEAR PERIOD, THAT 7377 04:41:07,880 --> 04:41:11,600 MANY VISITS, 12 PARTICIPANTS 7378 04:41:11,600 --> 04:41:12,880 TIMES THREE PER IN THE FIRST 7379 04:41:12,880 --> 04:41:17,080 YEARS AND MANY TRAVEL. SO 7380 04:41:17,080 --> 04:41:21,240 IN JANUARY 2020, END OF 2019 7381 04:41:21,240 --> 04:41:24,000 I'M STARTING TO DO SOME OF THIS 7382 04:41:24,000 --> 04:41:25,480 FOLLOW UP VISITS USE 7383 04:41:25,480 --> 04:41:26,800 TELEMEDICINE. THEN OF COURSE 7384 04:41:26,800 --> 04:41:32,080 FROM MARCH 2020 IT BECAME NORMAL 7385 04:41:32,080 --> 04:41:34,520 FOR ALL OF US. THIS IS A PICTURE 7386 04:41:34,520 --> 04:41:37,560 SPECIAL LEARNING SETUP HERE 7387 04:41:37,560 --> 04:41:39,240 WE HAVE PATIENTS AT HOME AND 7388 04:41:39,240 --> 04:41:40,800 I WORK PHYSICALLY 7389 04:41:40,800 --> 04:41:41,840 THERAPIST IN THE RESEARCH 7390 04:41:41,840 --> 04:41:49,840 COORDINATOR. SO HERE IS RYAN 7391 04:41:49,840 --> 04:41:51,040 SHILLAN'S PRINCESS YOU WILL HAVE HEARD OF 7392 04:41:51,040 --> 04:41:54,040 MORE FROM HIM SOON. ABOVE 7393 04:41:54,040 --> 04:41:57,520 BASICS DONE ON 7394 04:41:57,520 --> 04:41:59,240 THE FAMILY CONFERENCE 7395 04:41:59,240 --> 04:42:03,200 WHERE WE RECRUIT THE FIRST 7396 04:42:03,200 --> 04:42:05,200 PARTICIPANTS. ONE OF US 7397 04:42:05,200 --> 04:42:06,520 THE IMPORTANT ACTION IS THE MOTOR 7398 04:42:06,520 --> 04:42:10,840 FUNCTIONAL ASSESSMENT 7399 04:42:10,840 --> 04:42:17,880 WHAT CAN WE DO HERE. 7400 04:42:17,880 --> 04:42:19,760 WHEN WE ASK OTHER THINGS 7401 04:42:19,760 --> 04:42:21,560 WHAT PARENTS HAVE TO DO IS OUR HOMEWORK 7402 04:42:21,560 --> 04:42:25,880 ASK THEM TO NOTE THE SYMPTOMS 7403 04:42:25,880 --> 04:42:27,600 HOME AND THE MOMENT IS 7404 04:42:27,600 --> 04:42:29,280 EXAMPLE OF MY PARENTS' LOG 7405 04:42:29,280 --> 04:42:32,480 FILLED IN, RECORDING -- 7406 04:42:32,480 --> 04:42:35,120 SO WE CAN MEASURE THE WAY ACCURATELY 7407 04:42:35,120 --> 04:42:38,400 LONG, VERY SEVERE 7408 04:42:38,400 --> 04:42:43,240 PERIOD OF SEVERAL MONTHS. 7409 04:42:43,240 --> 04:42:44,800 FOLLOWING RYAN'S FOREVER COURSE 7410 04:42:44,800 --> 04:42:45,680 THE NEXT TWO AND A HALF YEARS, HE 7411 04:42:45,680 --> 04:42:50,880 LOOKS FOR ELEMENTARY VISITING AGE 7412 04:42:50,880 --> 04:42:54,920 4, SIX MONTHS LATER VISITED 7413 04:42:54,920 --> 04:42:59,280 HOME. . ALMOST 12 MONTHS AFTER 7414 04:42:59,280 --> 04:43:05,840 HE MADE AN INITIAL VISIT 7415 04:43:05,840 --> 04:43:07,600 MY INSTITUTION BEFORE OWNED 7416 04:43:07,600 --> 04:43:10,000 GENE THERAPY SURGERY AND FINISHED 7417 04:43:10,000 --> 04:43:12,360 IT'S TIME TO APPRECIATE THAT MUCH 12 7418 04:43:12,360 --> 04:43:15,320 MOON PERIOD HAS A SIMILAR MOTORCYCLE 7419 04:43:15,320 --> 04:43:18,880 PURPOSE ASSESSMENT DURING THAT TIME. 7420 04:43:18,880 --> 04:43:20,280 THE LAST VIDEO WAS TAKEN FROM A 7421 04:43:20,280 --> 04:43:23,400 TELEMEDICINE VISITS, 18 MONTHS 7422 04:43:23,400 --> 04:43:30,880 AFTER HE GOT GENE THERAPY, WE 7423 04:43:30,880 --> 04:43:39,680 EVERYONE CAN APPRECIATE HOW HE IS 7424 04:43:39,680 --> 04:43:49,080 MOVEMENT CHANGES. WE HAVE TWO 7425 04:43:49,080 --> 04:43:49,960 VALUABLE INFORMATION 7426 04:43:49,960 --> 04:43:51,280 FROM OUR EXPERIENCE THIS IS MANY 7427 04:43:51,280 --> 04:43:56,280 NATURAL HISTORY STUDY. FOR NINE 7428 04:43:56,280 --> 04:43:59,120 SUBJECTS HERE DURING PERIOD 12 7429 04:43:59,120 --> 04:44:00,800 MOON, ONE IMPORTANT THING FOR 7430 04:44:00,800 --> 04:44:03,080 THE IMAGE IS WHAT THE CRISIS IS 7431 04:44:03,080 --> 04:44:06,280 CAN BE MEASURED IN STAGES 7432 04:44:06,280 --> 04:44:09,440 ALL THE TIME AND EVERY BAR IS COLORFUL 7433 04:44:09,440 --> 04:44:11,400 REPRESENTING ONE OF THE DIFFERENT 7434 04:44:11,400 --> 04:44:15,280 TRIAL PARTICIPANTS, AND 7435 04:44:15,280 --> 04:44:17,600 THIS IS THE STABLE SIZE PROVIDED 7436 04:44:17,600 --> 04:44:22,160 ALL THE TIME. IN THE SECOND GRAPH, 7437 04:44:22,160 --> 04:44:26,320 OUR EXPERIENCE WITH TWO 7438 04:44:26,320 --> 04:44:27,600 PARTICIPANTS, FOLLOW THE ADVERTISING YEAR FOR 7439 04:44:27,600 --> 04:44:29,120 GENE THERAPY. IN PART 7440 04:44:29,120 --> 04:44:32,120 HERE WE SEE THE MOTOR FUNCTION 7441 04:44:32,120 --> 04:44:37,160 MEASURES, WHICH RUN FROM ZERO TO 7442 04:44:37,160 --> 04:44:43,080 100. PRE-SURGERY, MOO TORR 7443 04:44:43,080 --> 04:44:45,400 FUNCTION SCORE LESS THAN TEN, 7444 04:44:45,400 --> 04:44:48,160 AFTER THE OPERATION WE SEE THE MARKED 7445 04:44:48,160 --> 04:44:49,600 CHANGES AND HISTORICAL DATA OF THE MALL 7446 04:44:49,600 --> 04:44:50,880 IT'S EASY FOR US TO SEE THE CHANGES 7447 04:44:50,880 --> 04:44:58,280 OCCUR FROM TREATMENT. IN 7448 04:44:58,280 --> 04:45:01,160 SUMMARY, I'LL EXPLAIN IT TO YOU 7449 04:45:01,160 --> 04:45:02,640 OPERATIONAL STUDY, CONCURRENTLY 7450 04:45:02,640 --> 04:45:04,400 WITH GENE THERAPY CLINICAL TRIALS 7451 04:45:04,400 --> 04:45:07,200 FOR AACD Deficiency. THE SELECTED 7452 04:45:07,200 --> 04:45:09,440 TO LEARN THIS I HAVE SIT DOWN 7453 04:45:09,440 --> 04:45:14,080 AT HOME OR TELEMEDICINE. THIS 7454 04:45:14,080 --> 04:45:15,880 THE DATA WE COLLECT IS COMPLETE 7455 04:45:15,880 --> 04:45:17,800 IMPORTANT KEYS TO SUCCESS 7456 04:45:17,800 --> 04:45:19,080 FUNDING APPLICATION TO 7457 04:45:19,080 --> 04:45:20,240 CONTINUE TO THE NEXT STAGE OF THE TRIAL 7458 04:45:20,240 --> 04:45:23,120 WHICH WE JUST STARTED. 7459 04:45:23,120 --> 04:45:25,440 WITH THAT I WANT TO THANK YOU ALL 7460 04:45:25,440 --> 04:45:27,080 PATIENTS AND FAMILIES 7461 04:45:27,080 --> 04:45:31,080 CONTRIBUTED TO THIS. L PI FROM 7462 04:45:31,080 --> 04:45:37,160 GENE THERAPY TRIALS, AND US 7463 04:45:37,160 --> 04:45:38,920 STUDY TEAM. VARIOUS 7464 04:45:38,920 --> 04:45:40,920 ESPECIALLY INSTITUTIONS 7465 04:45:40,920 --> 04:45:43,960 SUPPORT FROM NINDS AND FROM THE 7466 04:45:43,960 --> 04:45:46,400 AADC RESEARCH TRUST IS LEADED BY 7467 04:45:46,400 --> 04:45:48,400 LISA WORTHLESS ENGLISH MANY 7468 04:45:48,400 --> 04:45:51,200 RESOURCES FOR THE AACD COMMUNITY. 7469 04:45:51,200 --> 04:45:54,760 WITH THAT, I WILL HAND 7470 04:45:54,760 --> 04:45:57,880 THIS IS TO SHILLAN RODRIGUEZ 7471 04:45:57,880 --> 04:46:00,600 A PEN THAT WILL TELL US MORE ABOUT 7472 04:46:00,600 --> 04:46:02,120 HER DAUGHTER'S EXPERIENCE. 7473 04:46:02,120 --> 04:46:04,080 >> THANK YOU VERY MUCH DR. 7474 04:46:04,080 --> 04:46:05,840 PEARSON. HELLO EVERYONE, VERY 7475 04:46:05,840 --> 04:46:10,800 HAPPY TO BE A PART OF THIS. I am one 7476 04:46:10,800 --> 04:46:14,080 RYAN'S MOTHER WAS BORN 7 YEARS OLD 7477 04:46:14,080 --> 04:46:17,840 AADC IN SHAME. WE LIVE -- 7478 04:46:17,840 --> 04:46:19,280 DISADVANTAGES. WE STAY OUTSIDE 7479 04:46:19,280 --> 04:46:21,560 TORONTO. GETTING A DIAGNOSIS IS 7480 04:46:21,560 --> 04:46:22,800 IT'S A VERY DIFFICULT JOURNEY, JUST 7481 04:46:22,800 --> 04:46:24,600 BECAUSE OF OUR RARENESS 7482 04:46:24,600 --> 04:46:26,720 DISEASE AS DR. PEARSON 7483 04:46:26,720 --> 04:46:29,280 MENTIONED, IN ABOUT 150 CASES 7484 04:46:29,280 --> 04:46:31,400 AROUND THE WORLD. IT'S SUSPICIOUS 7485 04:46:31,400 --> 04:46:34,280 THERE MAY BE MORE CASES OUTCOME 7486 04:46:34,280 --> 04:46:36,040 THERE, THEY'RE THE ONLY ONE 7487 04:46:36,040 --> 04:46:37,680 UNDIAGNOSISED OR MISDIAGNOSISED. 7488 04:46:37,680 --> 04:46:41,280 ONCE WE GET THE DIAGNOSIS, RYAN 7489 04:46:41,280 --> 04:46:46,440 11 MONTHS OLD AND WE ARE HUMID 7490 04:46:46,440 --> 04:46:47,800 NO TIME TO RUN GLOBAL 7491 04:46:47,800 --> 04:46:49,280 COMMUNITY. AS DR. PEARSON 7492 04:46:49,280 --> 04:46:51,280 MENTIONING AADC RESEARCH 7493 04:46:51,280 --> 04:46:53,400 TRUST BASED OUTSIDE LONDON 7494 04:46:53,400 --> 04:46:54,840 ENGLAND, IS AN INVALUABLE 7495 04:46:54,840 --> 04:46:59,600 RESOURCE FOR OUR FAMILIES AND 7496 04:46:59,600 --> 04:47:02,680 THEY HAVE FINISHED WORK ON 7497 04:47:02,680 --> 04:47:05,560 SUPPORTING RESEARCH FOR OUR 7498 04:47:05,560 --> 04:47:08,160 CONDITION AND ALSO HEADING A 7499 04:47:08,160 --> 04:47:11,320 BIOANNUAL CONFERENCE FOR OUR 7500 04:47:11,320 --> 04:47:12,560 DISEASE. MY FAMILY AND ME 7501 04:47:12,560 --> 04:47:14,040 TRAVELED TO JUST OUTSIDE OF 7502 04:47:14,040 --> 04:47:16,120 LONDON ENGLAND TWICE IN 2016 AND 7503 04:47:16,120 --> 04:47:18,120 AGAIN IN 2018 TO ATTEND THESE 7504 04:47:18,120 --> 04:47:21,960 CONVERSATION. THE GREAT ONE 7505 04:47:21,960 --> 04:47:24,320 TO CONNECT DIRECTLY AT 7506 04:47:24,320 --> 04:47:26,160 FAMILY. ALSO TO CONNECT WITH 7507 04:47:26,160 --> 04:47:27,480 PROFESSIONALS THAT WORK FROM 7508 04:47:27,480 --> 04:47:28,720 ROUND THE GLOBE THAT HAVE 7509 04:47:28,720 --> 04:47:31,040 INTEREST IN OUR DISEASES 7510 04:47:31,040 --> 04:47:32,400 INCLUDING DR. AGREEMENT AND 7511 04:47:32,400 --> 04:47:36,720 PEARSON. THAT'S WHEN WE STARTED 7512 04:47:36,720 --> 04:47:40,160 CONDUCTING NATURAL HISTORY STUDIES 7513 04:47:40,160 --> 04:47:43,160 WITH DR. PEARSON. THE FIRST 7514 04:47:43,160 --> 04:47:48,120 VIDEO CLIP WHEN WE FIRST 7515 04:47:48,120 --> 04:47:49,920 SESSIONS IN VIEWING 7516 04:47:49,920 --> 04:47:54,480 FUCK RYAN. I SAID FROM 7517 04:47:54,480 --> 04:47:55,840 IT'S STARTING BUT WE CAN HELP 7518 04:47:55,840 --> 04:48:01,880 WITH ANY RESEARCH OR PROJECT 7519 04:48:01,880 --> 04:48:03,720 HAPPENED WITH ORUDIS THAT I 7520 04:48:03,720 --> 04:48:04,840 WANT TO BE A PART OF IT BECAUSE 7521 04:48:04,840 --> 04:48:06,920 I JUST FEEL LIKE THAT 7522 04:48:06,920 --> 04:48:09,480 IT'S A VERY VALUABLE THING TO DO 7523 04:48:09,480 --> 04:48:11,480 SUPPORT AND CONTRIBUTE TO 7524 04:48:11,480 --> 04:48:15,720 DEVELOPING AND DEVELOPING INFORMATION 7525 04:48:15,720 --> 04:48:17,440 OUR DISEASE DATA AND 7526 04:48:17,440 --> 04:48:18,680 FINAL TREATMENT FOR US 7527 04:48:18,680 --> 04:48:21,800 DISEASE. AND SUCH THINGS ARE NATURAL 7528 04:48:21,800 --> 04:48:24,760 THE STUDY OF HISTORY PROVIDES GREAT THINGS 7529 04:48:24,760 --> 04:48:26,480 DRAWING THE TRACK 7530 04:48:26,480 --> 04:48:27,800 CHILDREN EXISTED BEFORE GENES 7531 04:48:27,800 --> 04:48:30,080 THERAPY. OBVIOUSLY YOU CAN 7532 04:48:30,080 --> 04:48:32,360 ALSO HELP YOU MEASURE SUCCESS 7533 04:48:32,360 --> 04:48:34,600 CONNECT DIRECTLY WITH 7534 04:48:34,600 --> 04:48:38,000 GENE THERAPY INTERVENTIONS 7535 04:48:38,000 --> 04:48:41,320 OWN. QUESTIONS AND 7536 04:48:41,320 --> 04:48:42,720 FOLLOW UP EVERYTHING IS VERY EASY 7537 04:48:42,720 --> 04:48:45,240 TO COMPLETE FROM THE FAMILY 7538 04:48:45,240 --> 04:48:47,200 PERSPECTIVE. WE DO TRACKING 7539 04:48:47,200 --> 04:48:51,240 BEHAVIOR AND SYMPTOMS AND 7540 04:48:51,240 --> 04:48:52,760 THE OCULAR GYRATE CRISIS THAT DR. 7541 04:48:52,760 --> 04:48:55,280 PEARSON IS TOUCH TOO. SOME 7542 04:48:55,280 --> 04:48:56,320 MAY NOT UNDERSTAND CLEARLY 7543 04:48:56,320 --> 04:49:00,720 WHAT IS IT, BUT JUST TO GIVE A 7544 04:49:00,720 --> 04:49:02,400 BRIEF NOTES OF EACH CHILD 7545 04:49:02,400 --> 04:49:04,760 DIAGNOSED WITH AADC DEFICIENCY 7546 04:49:04,760 --> 04:49:07,560 SUFFERING FROM OGC OR OCULAR 7547 04:49:07,560 --> 04:49:09,200 GIRAT CRISIS. THIS IS 7548 04:49:09,200 --> 04:49:11,080 EPISODES THAT USUALLY OCCUR 7549 04:49:11,080 --> 04:49:12,760 EVERY THREE TO FOUR DAYS. AND 7550 04:49:12,760 --> 04:49:16,880 THEY CAN SURVIVE ANYWHERE OF THE TWO 7551 04:49:16,880 --> 04:49:19,400 UP TO EIGHT HOURS. A LOT 7552 04:49:19,400 --> 04:49:21,480 TOMMYING DICE'S NOSE AS CRUEL 7553 04:49:21,480 --> 04:49:23,720 ACTIVITIES BECAUSE THEY DO IT 7554 04:49:23,720 --> 04:49:27,840 CLINICALLY REPRESENTS LIKE SEEING 7555 04:49:27,840 --> 04:49:30,360 INSURANCE EVEN THOUGH THERE IS NO BRAIN DRAG 7556 04:49:30,360 --> 04:49:31,680 IT HAPPENED WHEN THIS CRISIS HAPPENED 7557 04:49:31,680 --> 04:49:33,360 PLACE BUT THE CHILD BECOMES STICK 7558 04:49:33,360 --> 04:49:35,040 DISTONNIC MOVEMENT, ROLLING 7559 04:49:35,040 --> 04:49:37,840 FROM THE EYE BACK, ALL THE WAY TO THE TOP 7560 04:49:37,840 --> 04:49:41,680 TO THE TOP OF THEIR HEADS, WHEN 7561 04:49:41,680 --> 04:49:44,800 RYAN HAD EXPERIENCED A CRISIS THAT HE HAD 7562 04:49:44,800 --> 04:49:45,880 BEAUTIFUL BLUE EYES AND US 7563 04:49:45,880 --> 04:49:47,360 CAN'T SEE HER BLUE 7564 04:49:47,360 --> 04:49:48,840 EYES WHEN HE WAS TRAPED IN ONE 7565 04:49:48,840 --> 04:49:50,640 FROM THIS CRISIS. IT CAN SURVIVE 7566 04:49:50,640 --> 04:49:52,200 FOR US, THE AVERAGE IS THEM 7567 04:49:52,200 --> 04:49:54,200 ANYWHERE FROM FOUR TO EIGHT 7568 04:49:54,200 --> 04:49:55,640 LONG HOURS. HAPPENING EVERY 7569 04:49:55,640 --> 04:49:58,000 THREE TO FOUR DAYS AND LATER 7570 04:49:58,000 --> 04:49:59,800 AFTER HE HAS TO RESET 7571 04:49:59,800 --> 04:50:00,800 BECAUSE HE WILL BE DISAPPOINTED 7572 04:50:00,800 --> 04:50:04,040 FROM MANY CRISIS. AND 7573 04:50:04,040 --> 04:50:05,840 THEN SOON WE KNOW THAT 7574 04:50:05,840 --> 04:50:07,520 IT WILL HAPPEN AGAIN. SO WE 7575 04:50:07,520 --> 04:50:10,280 VERY TRACKING THEM 7576 04:50:10,280 --> 04:50:11,480 BE CAREFUL BECAUSE OF A 7577 04:50:11,480 --> 04:50:13,240 THE PARENTS' PERSPECTIVE I'M TALKING ABOUT 7578 04:50:13,240 --> 04:50:15,680 OTHERWISE WE WILL ALSO BEFORE GENE 7579 04:50:15,680 --> 04:50:17,600 THERAPIST SAID OMG IF THIS IS 7580 04:50:17,600 --> 04:50:18,840 EVEN SURGICAL INTERVENTION 7581 04:50:18,840 --> 04:50:22,600 TAKE OGC WE WILL BE 7582 04:50:22,600 --> 04:50:25,480 GRATEFUL FOR THAT 7583 04:50:25,480 --> 04:50:27,160 IT'S ABSOLUTELY TERRIFYING TO STAND UP 7584 04:50:27,160 --> 04:50:29,320 AND WATCH YOUR CHILDREN GO 7585 04:50:29,320 --> 04:50:31,200 THROUGH THIS CRISIS IS SO 7586 04:50:31,200 --> 04:50:32,640 CONTINUES FOR HOURS AND 7587 04:50:32,640 --> 04:50:34,000 UNABLE TO CALM OR HELP 7588 04:50:34,000 --> 04:50:38,080 THEY ARE AT ALL. WHATEVER, WE REALLY DO 7589 04:50:38,080 --> 04:50:39,680 IS IT TRACKING THE CRISIS AND 7590 04:50:39,680 --> 04:50:41,240 SOME CRISIS IN 7591 04:50:41,240 --> 04:50:42,880 STUDY NATURAL HISTORY QUITE WELL 7592 04:50:42,880 --> 04:50:46,920 TO BE ABLE TO HAVE GOOD DATA 7593 04:50:46,920 --> 04:50:51,880 IT. I WANT TO TOUCH IT 7594 04:50:51,880 --> 04:50:55,240 THE FACT THAT WE WENT TO POLAND IN 7595 04:50:55,240 --> 04:50:58,840 SEPTEMBER 2019, SEPTEMBER 3 7596 04:50:58,840 --> 04:51:00,600 THAT WAS WHEN RYAN WAS GOING TO GENE 7597 04:51:00,600 --> 04:51:04,120 SURGICAL THERAPY LEADED BY 7598 04:51:04,120 --> 04:51:11,160 Dr. CHRIST. I DON'T 7599 04:51:11,160 --> 04:51:12,840 RAISED WHEN I TOLD HIM A 7600 04:51:12,840 --> 04:51:14,600 CHILDREN NOW ARE DIFFERENT AND QUALIFIED 7601 04:51:14,600 --> 04:51:15,720 LIFE HAS BEEN IMPROVED 7602 04:51:15,720 --> 04:51:17,440 TEN FOLDS MORE THAN TEN FOLDS. THIS 7603 04:51:17,440 --> 04:51:21,840 IS A CHILD WHO DOESN'T HAVE 7604 04:51:21,840 --> 04:51:23,840 GOAL MOVEMENT. HE 7605 04:51:23,840 --> 04:51:25,120 CAN'T REMOVE HIS EYES IF HE IS 7606 04:51:25,120 --> 04:51:27,880 ALREADY TIRED BEFORE GENE THERAPY. 7607 04:51:27,880 --> 04:51:30,440 VOMITING EVERY DAY IF NOT EVERY TIME 7608 04:51:30,440 --> 04:51:33,920 DAY TWO. CONTINUOUS PAIN, 7609 04:51:33,920 --> 04:51:36,240 FRUSTRATED, OGC HER 7610 04:51:36,240 --> 04:51:38,080 TAKE 21 DOSES OF MEDICATION A 7611 04:51:38,080 --> 04:51:40,880 DAYS BEFORE THE SURGERY AND OVER 7612 04:51:40,880 --> 04:51:45,080 IT'S GONE NOW. WE STARTED 7613 04:51:45,080 --> 04:51:47,280 SEE SOME AMAZING 7614 04:51:47,280 --> 04:51:48,360 THE MILESTONE IS ABOUT TWO MONTHS 7615 04:51:48,360 --> 04:51:50,640 AFTER THE SURGERY, IT'S BASICALLY TYPE 7616 04:51:50,640 --> 04:51:53,000 SAME DEVELOPMENT AS NERVES 7617 04:51:53,000 --> 04:51:54,680 SPECIAL CHILDREN, SHE STARTED 7618 04:51:54,680 --> 04:51:57,240 TRYING TO HOLD HER HEAD, TWO 7619 04:51:57,240 --> 04:51:58,200 MONTHS POST DOCTOR AND THREE OR 7620 04:51:58,200 --> 04:51:59,960 FOUR MONTHS HE STARTED TO REACH 7621 04:51:59,960 --> 04:52:01,920 AND BATTING FOR TOYS. JUST AGAIN 7622 04:52:01,920 --> 04:52:04,960 LIKE A SPECIALLY DEVELOPING CHILD 7623 04:52:04,960 --> 04:52:07,280 IT WILL BE ON THAT TIMELINE. BY 7624 04:52:07,280 --> 04:52:09,240 HE CONTROLLED FOR SEVEN MONTHS 7625 04:52:09,240 --> 04:52:12,680 ROLLING, PLAYING TOYS, SITTING 7626 04:52:12,680 --> 04:52:13,920 INDEPENDENTLY A 7627 04:52:13,920 --> 04:52:17,960 A GREAT ACHIEVEMENT FOR US, 7628 04:52:17,960 --> 04:52:20,960 HIS HEART IS COMPLETELY EATEN 7629 04:52:20,960 --> 04:52:23,280 BY A G TUBE FEEDING TUNE PREVIOUSLY 7630 04:52:23,280 --> 04:52:25,640 FOR GENE THERAPY AND NOW HE CAN 7631 04:52:25,640 --> 04:52:28,920 EAT STEAK AND RICE, LA ZAHNIA, 7632 04:52:28,920 --> 04:52:30,000 WE TEACHED HIM HOW TO HOLD HIM 7633 04:52:30,000 --> 04:52:32,000 OWN CUP AND DRINK FROM A 7634 04:52:32,000 --> 04:52:35,000 STRAW. SHE USES CUTLERY NOW. 7635 04:52:35,000 --> 04:52:38,360 QUALITY OF LIFE IMPROVES 7636 04:52:38,360 --> 04:52:39,640 VERY AMAZING. AND FOR THE RARE 7637 04:52:39,640 --> 04:52:44,040 DISEASE COMMUNITY, YOU KNOW WHAT 7638 04:52:44,040 --> 04:52:45,560 ALL THE MILESTONES ARE MEANINGFUL AND 7639 04:52:45,560 --> 04:52:48,560 HOW IMPORTANT THEY ALL ARE. AND 7640 04:52:48,560 --> 04:52:50,480 IT'S SO MIRACLE TO BE ABLE TO 7641 04:52:50,480 --> 04:52:52,960 TO SEE THE DIFFERENCE IN US 7642 04:52:52,960 --> 04:52:55,760 PRINCESS AND CAUSE 7643 04:52:55,760 --> 04:52:57,840 NEUROPLASTICITY HAS NO LIMITS 7644 04:52:57,840 --> 04:53:00,480 WHERE WILL HE GO AND HOW 7645 04:53:00,480 --> 04:53:04,320 MANY MORE MILESTONES WILL HAPPEN 7646 04:53:04,320 --> 04:53:08,080 ABLE TO BE ACHIEVED IN THE FUTURE 7647 04:53:08,080 --> 04:53:10,080 . THERE'S A CHILD 7648 04:53:10,080 --> 04:53:11,280 POST-OPERATING WALKING, 7649 04:53:11,280 --> 04:53:13,280 SPEAKING. THAT'S COMPLETELY 7650 04:53:13,280 --> 04:53:19,440 TOILET RAIN -- REALLY RAIN 7651 04:53:19,440 --> 04:53:21,280 ENJOY A SECOND CHANCE AT 7652 04:53:21,280 --> 04:53:22,920 ALIVE. I'M GLAD TO SHARE THIS 7653 04:53:22,920 --> 04:53:24,480 STORY BECAUSE I THINK IT IS 7654 04:53:24,480 --> 04:53:25,600 IT'S IMPORTANT TO BE ABLE TO SPREAD 7655 04:53:25,600 --> 04:53:28,520 HOPE IN OUR COMMUNITY, 7656 04:53:28,520 --> 04:53:30,840 ESPECIALLY WHEN IT'S FAMILY 7657 04:53:30,840 --> 04:53:35,160 AFFECTED BY THIS RARE DISEASE, 7658 04:53:35,160 --> 04:53:39,760 HOPE IS NOT EVERYTHING GIVEN 7659 04:53:39,760 --> 04:53:41,760 TIME AND I WANT IT TO BE SHORT 7660 04:53:41,760 --> 04:53:42,320 EXPLAIN WHAT WE HAVE DONE 7661 04:53:42,320 --> 04:53:45,160 THROUGH AND HOW AMAZING 7662 04:53:45,160 --> 04:53:46,880 PROSPECTIVE GENE THERAPY IS NOT ONLY 7663 04:53:46,880 --> 04:53:48,640 FOR OUR CONDITIONS BUT FOR 7664 04:53:48,640 --> 04:53:49,520 THE POSSIBILITIES ARE MANY DIFFERENT 7665 04:53:49,520 --> 04:53:57,480 RARE DISEASES. THANK YOU. 7666 04:53:57,480 --> 04:53:59,480 >> THANK YOU MUCH SHILLAN FOR 7667 04:53:59,480 --> 04:54:00,960 TELLS US RYAN'S STORY, THAT 7668 04:54:00,960 --> 04:54:03,200 IT'S A LONG WALK TO BE HEARD 7669 04:54:03,200 --> 04:54:04,360 IT'S ALL YOU AND YOUR FAMILY 7670 04:54:04,360 --> 04:54:09,120 THROUGH. IF WE HAVE TIME 7671 04:54:09,120 --> 04:54:10,880 FOR MY JUST ONE QUESTION 7672 04:54:10,880 --> 04:54:13,240 THE SEARCH FOR ME TOUCH WITHIN ME 7673 04:54:13,240 --> 04:54:15,720 TALK ABOUT HOW MANY YEARS ARE IN 7674 04:54:15,720 --> 04:54:19,800 THE MANUFACTURE, FOR AADC GENE 7675 04:54:19,800 --> 04:54:21,680 THERAPY. MANY FAMILIES IN 7676 04:54:21,680 --> 04:54:23,280 IMMUNITY HAS BEEN WAITING FOR A LONG TIME 7677 04:54:23,280 --> 04:54:24,760 TIME AND CLEARLY THAT'S YOU 7678 04:54:24,760 --> 04:54:26,120 EXPERIENCE TOO. I THINK TO 7679 04:54:26,120 --> 04:54:27,680 SEVERAL YEARS. KNOW THAT 7680 04:54:27,680 --> 04:54:36,280 IT IS SOMETHING THAT IS IN OR 7681 04:54:36,280 --> 04:54:43,520 RYESON. I KNOW WE CAN 7682 04:54:43,520 --> 04:54:47,280 MOVE EVERYTHING FASTER FOREVER 7683 04:54:47,280 --> 04:54:49,640 CHILDREN. DO YOU WANT TO HAVE 7684 04:54:49,640 --> 04:54:52,440 REFLECTIONS OR THOUGHTS ABOUT 7685 04:54:52,440 --> 04:54:56,280 WAITING PERIOD TO KNOW YOUR GENES 7686 04:54:56,280 --> 04:55:02,360 THERAPY EXISTS. YET 7687 04:55:02,360 --> 04:55:03,080 IT MUST BE SOMETHING YOU CAN DO 7688 04:55:03,080 --> 04:55:09,960 REGISTER IMMEDIATELY. WHAT 7689 04:55:09,960 --> 04:55:12,880 PARTICIPATION IN NATURAL HISTORY 7690 04:55:12,880 --> 04:55:15,760 RILE PARTS LIKE -- 7691 04:55:15,760 --> 04:55:17,120 TRY AS BEFORE. 7692 04:55:17,120 --> 04:55:22,560 >> THAT WAITS, OH BOY, THAT'S IT 7693 04:55:22,560 --> 04:55:23,160 ACTUALLY NOT -- FOR SAKE 7694 04:55:23,160 --> 04:55:25,080 TRYING TO SOUND DRAMATIC BUT IT IS 7695 04:55:25,080 --> 04:55:28,920 ABSOLUTELY EMOTIONAL TORTURE. 7696 04:55:28,920 --> 04:55:30,560 IT'S REALLY MIXED BY KNOWING HOW 7697 04:55:30,560 --> 04:55:32,600 BLESS US. BECAUSE WHEN YOU 7698 04:55:32,600 --> 04:55:35,120 HAVE THIS RARE DISEASE, THE 7699 04:55:35,120 --> 04:55:37,760 BLESSINGS TO HAVE THIS LIFE 7700 04:55:37,760 --> 04:55:39,720 CHANGING TREATMENT ON 7701 04:55:39,720 --> 04:55:41,080 HORIZON IS AWESOME TO OWN 7702 04:55:41,080 --> 04:55:42,640 AND YOU ARE THANKFUL FOR THAT AND 7703 04:55:42,640 --> 04:55:44,320 VERY GRATEFUL TO KNOW THAT 7704 04:55:44,320 --> 04:55:47,240 THE WAY FOR YOU. BUT LIKE 7705 04:55:47,240 --> 04:55:49,120 YOU SAID YOU HAVE IT OUT OF RANGE 7706 04:55:49,120 --> 04:55:50,360 WHEN YOUR ENTRY AND EXIT DAY 7707 04:55:50,360 --> 04:55:53,480 ALSO PAY ATTENTION TO YOUR CHILD SUFFERING 7708 04:55:53,480 --> 04:55:54,800 SHOWN CLOSE TO 7709 04:55:54,800 --> 04:55:56,000 COMMUNITY AND OTHER COMPLAINTS 7710 04:55:56,000 --> 04:55:59,640 CHILDREN DIED, ALMOST 7711 04:55:59,640 --> 04:56:01,600 LIKE THE SANDS OF TIME RUNNING 7712 04:56:01,600 --> 04:56:03,480 AND AS YOU WANT TO TRY 7713 04:56:03,480 --> 04:56:05,080 TO REMAIN LOYAL AND TRUSTING 7714 04:56:05,080 --> 04:56:06,680 WHAT YOUR DAUGHTER WILL RECEIVE 7715 04:56:06,680 --> 04:56:09,480 THIS IS WHAT YOU EXPECT, 7716 04:56:09,480 --> 04:56:14,560 REALITY AND ITS VIOLENCE 7717 04:56:14,560 --> 04:56:19,080 THE SITUATION IS TOUGH ON YOU 7718 04:56:19,080 --> 04:56:22,280 OVERALL. EMOTIONALLY, SPIRITUALLY 7719 04:56:22,280 --> 04:56:23,640 ACTUALLY, IT'S VERY HARD 7720 04:56:23,640 --> 04:56:26,440 TO WAIT. HAVE SAID THAT, WE 7721 04:56:26,440 --> 04:56:28,280 WAIT, RYAN DO THE SURGERY 7722 04:56:28,280 --> 04:56:31,680 BEFORE YOUR FIFTH ANNIVERSARY, WE 7723 04:56:31,680 --> 04:56:32,880 DISCOVERED ABOUT GENE EXPECTATIONS 7724 04:56:32,880 --> 04:56:34,600 THERAPY ON THE DAY OF DIAGNOSIS 7725 04:56:34,600 --> 04:56:37,960 11 MONTHS SO FROM 11 MONTHS TO 7726 04:56:37,960 --> 04:56:39,760 BEFORE HIS FIFTH BIRTHDAY, 7727 04:56:39,760 --> 04:56:41,280 I THINK HUNDREDS 7728 04:56:41,280 --> 04:56:42,880 TIMES A DAY A THAT IS NOT AN 7729 04:56:42,880 --> 04:56:49,240 UNDERSTANDING STATEMENT. SATISFACTION 7730 04:56:49,240 --> 04:56:53,720 IS THE DRIVER. IN CASE 7731 04:56:53,720 --> 04:56:54,920 CONNECT WITH YOU AND BECOMING 7732 04:56:54,920 --> 04:56:56,080 ABLE TO BE A PART OF NATURE 7733 04:56:56,080 --> 04:57:02,880 STUDYING HISTORY, I FEEL LIKE THAT 7734 04:57:02,880 --> 04:57:04,480 IT'S SOMETHING THAT I CAN'T DO 7735 04:57:04,480 --> 04:57:05,680 FOR RYAN BUT HUGE IMMUNITY 7736 04:57:05,680 --> 04:57:11,200 AND HELP BY PROMOTING MORE 7737 04:57:11,200 --> 04:57:13,640 DATA AND ALLOW YOU TO FOLLOW 7738 04:57:13,640 --> 04:57:17,000 WE ARE THE HONORS BECAUSE WE ARE 7739 04:57:17,000 --> 04:57:18,680 REALLY CONNECT TO US 7740 04:57:18,680 --> 04:57:21,840 COMMUNITY AND HOW WE CAN 7741 04:57:21,840 --> 04:57:23,920 HELP SUPPORT OUR RESEARCH DATA 7742 04:57:23,920 --> 04:57:25,680 REALLY WANT TO BE A PART OF 7743 04:57:25,680 --> 04:57:27,920 that. THAT'S THE GREEN. EVEN 7744 04:57:27,920 --> 04:57:30,200 NOW. EVEN POST-OPERATING. 7745 04:57:30,200 --> 04:57:31,320 BUT WE CAN HELP AND BE 7746 04:57:31,320 --> 04:57:35,200 VERBAL ABOUT OUR STORY AND 7747 04:57:35,200 --> 04:57:36,480 CONTRIBUTE, THAT'S WHY WE'RE HAPPY 7748 04:57:36,480 --> 04:57:39,200 TO DO IT. 7749 04:57:39,200 --> 04:57:42,840 >> YOUR CONTRIBUTION AND -- LIKE 7750 04:57:42,840 --> 04:57:43,560 OTHER FAMILIES THAT 7751 04:57:43,560 --> 04:57:44,760 PARTICIPATE IN TRIALS AND 7752 04:57:44,760 --> 04:57:47,200 NATURAL HISTORY STUDIES HAVE BEEN CONDUCTED 7753 04:57:47,200 --> 04:57:50,520 AWESOME MORE THAN THOSE YEW. WITH 7754 04:57:50,520 --> 04:57:53,760 THAT WE ARE OUT OF TIME. SO 7755 04:57:53,760 --> 04:57:55,720 IF YOU WANT TO TELL PEOPLE THAT 7756 04:57:55,720 --> 04:57:57,840 SHILLAN AND I WILL BE AS I SAY 7757 04:57:57,840 --> 04:57:59,480 AVAILABLE TO TAKE QUESTIONS 7758 04:57:59,480 --> 04:58:00,960 DAY OF LIFE LOOKS IF YOU 7759 04:58:00,960 --> 04:58:02,680 WANT TO CONTACT US, 7760 04:58:02,680 --> 04:58:03,080 THANK YOU VERY MUCH. 7761 04:58:03,080 --> 04:58:18,480 >> THANK YOU VERY MUCH. 7762 04:58:18,480 --> 04:58:21,400 >> WELCOME TO USING TELEHEALTH 7763 04:58:21,400 --> 04:58:23,360 DURING COVID-19. MY NAME IS 7764 04:58:23,360 --> 04:58:25,120 TIFFANY BAILEY EYELASHES, PROGRAM 7765 04:58:25,120 --> 04:58:26,560 NATIONAL INSTITUTE DIRECTOR 7766 04:58:26,560 --> 04:58:29,520 BIOMEDICAL IMAGING AND 7767 04:58:29,520 --> 04:58:31,200 BIOIMAGING -- BIOENGINEER. i 7768 04:58:31,200 --> 04:58:33,120 WILL SERVE AS A MODERATOR AND US 7769 04:58:33,120 --> 04:58:39,720 WILL BE JOINED BY HEIDI ROSS TO 7770 04:58:39,720 --> 04:58:42,120 PROVIDE INSIGHTS REGARDING TELEHEALTH 7771 04:58:42,120 --> 04:58:47,760 ON A GLOBAL SCALE. WE WILL HAVE 7772 04:58:47,760 --> 04:58:50,560 Dr. GENIN D'ARMIENTO, KRISTIN 7773 04:58:50,560 --> 04:58:53,360 GRASSI AND DR. ANDREA GROPMAN TO 7774 04:58:53,360 --> 04:58:54,520 TELEHEALTH DISCUSSION DURING 7775 04:58:54,520 --> 04:58:55,960 PANDEMIC. DURING OUR SESSIONS, YOU 7776 04:58:55,960 --> 04:58:57,640 CAN ROOK FORWARD 7777 04:58:57,640 --> 04:58:59,520 UNDERSTAND WHAT IS MEANT BY 7778 04:58:59,520 --> 04:59:02,320 AND ENGAGE IN TELEHEALTH, IT 7779 04:59:02,320 --> 04:59:04,520 IMPORTANT FOR RARE DISEASES 7780 04:59:04,520 --> 04:59:05,440 PATIENTS AND INDIVIDUALS 7781 04:59:05,440 --> 04:59:07,120 TELEHEALTH EXPERIENCE FROM 7782 04:59:07,120 --> 04:59:08,800 PATIENTS AND PROVIDERS. I WILL 7783 04:59:08,800 --> 04:59:21,560 MOVE TO HEIDI. 7784 04:59:21,560 --> 04:59:23,080 >> THANK YOU TO NI DAN 7785 04:59:23,080 --> 04:59:24,720 NCATS FOR HOSTING TODAY 7786 04:59:24,720 --> 04:59:25,640 WONDERFUL RARE DISEASES DAY 7787 04:59:25,640 --> 04:59:28,440 EVENT. MY NAME IS HEIDI ROSS, 7788 04:59:28,440 --> 04:59:29,560 ACTIONS OF THE VICE PRESIDENT FOR POLICY 7789 04:59:29,560 --> 04:59:31,720 AND REGULATORY FIELDS ON 7790 04:59:31,720 --> 04:59:33,280 NATIONAL ORGANIZATION FOR RARE 7791 04:59:33,280 --> 04:59:35,080 DISRUPTION. I LOVE TO KICK 7792 04:59:35,080 --> 04:59:37,440 OFF USE SESSION 7793 04:59:37,440 --> 04:59:38,520 TELEHEALTH DURING COVID-19 7794 04:59:38,520 --> 04:59:42,520 PANDEMIC. TELL YOUR HEALTH AND 7795 04:59:42,520 --> 04:59:44,120 TELEMEDICINE IS TRANSFERABLE 7796 04:59:44,120 --> 04:59:45,840 AND LOOK AT THE EXCHANGE 7797 04:59:45,840 --> 04:59:48,120 INFORMATION FROM ONE PLACE TO 7798 04:59:48,120 --> 04:59:51,120 OTHERS THROUGH VIDEO AUDIO OR 7799 04:59:51,120 --> 04:59:52,720 AUDIO COMMUNICATION. WHEN IT'S NOT 7800 04:59:52,720 --> 04:59:56,160 NEW CONCEPT OF ITS UTILIZATION 7801 04:59:56,160 --> 04:59:57,960 DURING THE COVID-19 PANDEMIC 7802 04:59:57,960 --> 05:00:04,400 IT ROCKETS AND WE USE A LOT 7803 05:00:04,400 --> 05:00:06,200 TELEHEALTH FOR OUR SAFETY 7804 05:00:06,200 --> 05:00:07,840 OWN HOME AND FROM THEIR HOUSE TOO 7805 05:00:07,840 --> 05:00:09,880 SOMETIMES. ACCORDING 7806 05:00:09,880 --> 05:00:11,400 (INAUDIBLE) MEDICARE AND 7807 05:00:11,400 --> 05:00:13,720 MEDICAID SERVICES 52.7 MILLION 7808 05:00:13,720 --> 05:00:15,240 TELEHEALTH VISITS ARE CONDUCTED 7809 05:00:15,240 --> 05:00:18,120 WITH MEDICARE BENEFICIARIES AT 7810 05:00:18,120 --> 05:00:20,480 2021. THIS IS 63 FOLDS 7811 05:00:20,480 --> 05:00:23,120 IMPROVE. FROM JUST -R8 40,000 7812 05:00:23,120 --> 05:00:28,720 TELEHEALTH VISIT IN 2019. THE 7813 05:00:28,720 --> 05:00:30,240 RARE DISEASES COMMUNITIES WITH 7814 05:00:30,240 --> 05:00:31,720 COMPLEX HEALTH IS REQUIRED 7815 05:00:31,720 --> 05:00:33,200 REGULAR CONTACT WITH HEALTH CARE 7816 05:00:33,200 --> 05:00:37,000 PROVIDERS, COVID-19 IS AWESOME 7817 05:00:37,000 --> 05:00:38,520 BOTHER. THE SURVEY WAS CONDUCTED AT 7818 05:00:38,520 --> 05:00:41,320 MIDDLE OF 2020 FOUND ALMOST 80% 7819 05:00:41,320 --> 05:00:44,120 WHAT THE PATIENT HAS ALREADY EXPERIENCED 7820 05:00:44,120 --> 05:00:47,040 (INAUDIBLE) AND 32% REPORTED 7821 05:00:47,040 --> 05:00:50,040 CHILDREN ACCESS MEDICAL CARE. IN 7822 05:00:50,040 --> 05:00:52,720 AT THE SAME TIME 88% OF PATIENTS SAID 7823 05:00:52,720 --> 05:00:54,120 HEALTH PROMISE (INAUDIBLE). 7824 05:00:54,120 --> 05:00:55,840 REMEMBERING THE CHALLENGES AND LOADS 7825 05:00:55,840 --> 05:00:57,400 RELATED TO OWNING A RARE ONE 7826 05:00:57,400 --> 05:00:59,040 DISEASE, NOT SURPRISING 7827 05:00:59,040 --> 05:01:03,240 LOOK AT THE POSITIVE RESPONSE 7828 05:01:03,240 --> 05:01:05,280 EXPANDED TELEHEALTH SERVICES. 7829 05:01:05,280 --> 05:01:06,840 WHEN NORD DOES A 7830 05:01:06,840 --> 05:01:09,720 2020 SURVEY, OUR RESULTS 7831 05:01:09,720 --> 05:01:11,280 FOUND 92% OF PATIENTS HAVE A 7832 05:01:11,280 --> 05:01:12,560 TELEHEALTH APPOINTMENTS SAY IT 7833 05:01:12,560 --> 05:01:18,320 IT WAS A POSITIVE AND POSITIVE EXPERIENCE 7834 05:01:18,320 --> 05:01:20,560 70% SHOW THEY WANT IT 7835 05:01:20,560 --> 05:01:22,280 OPTIONS FOR THE FUTURE. NORD SAW IT 7836 05:01:22,280 --> 05:01:24,920 AS A CRITICAL TOOL FOR ADVANCEMENT 7837 05:01:24,920 --> 05:01:28,920 HEALTH EQUALITY FOR RARE DISEASES 7838 05:01:28,920 --> 05:01:32,200 PATIENT. OTHER SUMMIT PREF 7839 05:01:32,200 --> 05:01:34,040 COVID TIMES 40% MORE TRAVEL 7840 05:01:34,040 --> 05:01:36,480 FROM 60 MILES TO MEDICAL 7841 05:01:36,480 --> 05:01:38,920 THESE APPOINTMENTS ARE FREQUENT 7842 05:01:38,920 --> 05:01:40,480 SIGNIFICANT TRAVEL COSTS LOST 7843 05:01:40,480 --> 05:01:42,680 USEFUL STRAP FOR WORK AND SCHOOL 7844 05:01:42,680 --> 05:01:44,120 FAMILY ROUTINE. AND WHAT WE DON'T DO 7845 05:01:44,120 --> 05:01:46,520 KNOW WHO GETS OPTIMAL CARE 7846 05:01:46,520 --> 05:01:47,560 UNABLE TO COPE 7847 05:01:47,560 --> 05:01:49,880 LOAD? TELEHEALTH CAN HELP 7848 05:01:49,880 --> 05:01:53,120 REDUCE THESE BARRIERS 7849 05:01:53,120 --> 05:01:54,400 PATIENTS GET ADDITIONAL BENEFITS 7850 05:01:54,400 --> 05:01:56,120 MORE FASTER CARE PROVIDING 7851 05:01:56,120 --> 05:02:01,720 (Inaudible) WAY MORE TIMELY. 7852 05:02:01,720 --> 05:02:03,480 WE KNOW THE BENEFITS 7853 05:02:03,480 --> 05:02:06,240 TELEHEALTH. SOME LIKE ACCESS TO 7854 05:02:06,240 --> 05:02:07,760 HIGH SPEED INTERNET SERVICE FOR 7855 05:02:07,760 --> 05:02:09,240 OTHERS USE TELEHEALTH 7856 05:02:09,240 --> 05:02:12,320 TECHNOLOGY OR DEVICE OR 7857 05:02:12,320 --> 05:02:13,600 (Inaudible) CAN BE CONFUSING. 7858 05:02:13,600 --> 05:02:15,120 MORE NEEDS TO BE DONE TO BE SURE 7859 05:02:15,120 --> 05:02:18,240 THE PATIENT HAS THE ABILITY TO USE IT, 7860 05:02:18,240 --> 05:02:19,440 FULL EXPLOITATION 7861 05:02:19,440 --> 05:02:25,400 EPIDAIBILITY AND ITS MEANING 7862 05:02:25,400 --> 05:02:27,840 LEARNING ABILITY TO TEACH 7863 05:02:27,840 --> 05:02:31,880 PEOPLE HOW TO USE THIS TOOL. 7864 05:02:31,880 --> 05:02:32,480 EXPANDED TELEHEALTH SERVICES 7865 05:02:32,480 --> 05:02:35,920 MAYBE THE ONLY GOOD THING HA 7866 05:02:35,920 --> 05:02:37,920 HAPPENED DURING COVID. A LOT 7867 05:02:37,920 --> 05:02:39,800 AND COMPLICATED RULES 7868 05:02:39,800 --> 05:02:42,040 (INAUDIBLE) WHAT TYPE OF HEALTH 7869 05:02:42,040 --> 05:02:44,520 INSURANCE. SUCH PROBLEMS 7870 05:02:44,520 --> 05:02:46,360 COUNTRYWIDE INSURANCE 7871 05:02:46,360 --> 05:02:47,040 REQUIREMENTS, SCOPE, AVAILABLE 7872 05:02:47,040 --> 05:02:48,920 HAD MEDICATION AND CHALLENGES 7873 05:02:48,920 --> 05:02:49,880 CONTINUOUS HEALTH CARE PROVIDER 7874 05:02:49,880 --> 05:02:52,800 MUST NAVIGATE. SO NO 7875 05:02:52,800 --> 05:02:54,160 REASON FOR COMMITTING TO ENSURE 7876 05:02:54,160 --> 05:02:55,520 TELEHEALTH ACTIVELY 7877 05:02:55,520 --> 05:02:57,320 INTEGRATED IN OUR HEALTH CARE 7878 05:02:57,320 --> 05:02:58,920 SYSTEM, IN A WAY THAT CAN HELP 7879 05:02:58,920 --> 05:03:01,000 INCREASING HEALTH AND EQUITY 7880 05:03:01,000 --> 05:03:02,000 ACHIEVE POSITIVE RESULTS FOR 7881 05:03:02,000 --> 05:03:06,120 ALL PATIENTS. (inaudible) 7882 05:03:06,120 --> 05:03:08,840 FANTASTIC MODERATOR FOR TODAY 7883 05:03:08,840 --> 05:03:25,920 SESSION, DR. BAILEY'S FEATHERS. 7884 05:03:25,920 --> 05:03:27,920 >> WE HAVE THREE VALUABLES 7885 05:03:27,920 --> 05:03:31,000 PANELIST, DR. D'ARMIENTO, 7886 05:03:31,000 --> 05:03:33,920 KRISTIN GRASSI AND DR. GROPMAN. 7887 05:03:33,920 --> 05:03:37,080 STARTING WITH DR. D'ARMIENTO, 7888 05:03:37,080 --> 05:03:38,720 WHO KEEPS THE PROFESSOR 7889 05:03:38,720 --> 05:03:42,120 MEDICINE ANESTHESIOLOGY, HE 7890 05:03:42,120 --> 05:03:49,200 LYMPH CENTER DIRECTOR 7891 05:03:49,200 --> 05:03:52,320 ANGIOLIE OWES MYOMATOSIS, AND 7892 05:03:52,320 --> 05:03:53,600 RARE LUNG DISEASES AND CHAIRS 7893 05:03:53,600 --> 05:03:55,520 ALPHA 1 BOARD OF DIRECTORS 7894 05:03:55,520 --> 05:03:57,520 FOUNDATION. HE IS A 7895 05:03:57,520 --> 05:03:58,440 PULMONOLOGY AND ALSO DOING IT 7896 05:03:58,440 --> 05:04:02,960 PRIMARY CARE OF THE PATIENT, HE 7897 05:04:02,960 --> 05:04:04,640 SERVE AS CONSULTANT DIRECTOR 7898 05:04:04,640 --> 05:04:05,840 OFFICE OF RARE AND DISEASES 7899 05:04:05,840 --> 05:04:11,080 WORK WITH THE GARD TEAM. US 7900 05:04:11,080 --> 05:04:13,360 HE ALSO SAW THE FIRST TELEHEALTH 7901 05:04:13,360 --> 05:04:16,160 VISIT WHEN COVID STARTED. HE 7902 05:04:16,160 --> 05:04:17,640 ABLE TO CLOSE IMMEDIATELY 7903 05:04:17,640 --> 05:04:20,000 VISIT THE FIRST WEEK OF MARCH, 7904 05:04:20,000 --> 05:04:22,920 ACKNOWLEDGE THE ABILITIES OF THE ONE 7905 05:04:22,920 --> 05:04:27,520 PATIENTS WITH COVID. IN 7906 05:04:27,520 --> 05:04:29,680 UNIVERSITY WEEK IS MADE 7907 05:04:29,680 --> 05:04:31,000 TELEHEALTH AND CAPABILITIES 7908 05:04:31,000 --> 05:04:34,600 A QUICKLY MOVED BUSINESS FOR LIST 7909 05:04:34,600 --> 05:04:38,800 HEALTH. WE'RE HAPPY TODAY 7910 05:04:38,800 --> 05:04:44,040 HEAR FROM DR. D'ARMIENTO'S 7911 05:04:44,040 --> 05:04:45,600 PATIENT, KRISTIN GRASSI. RARE 7912 05:04:45,600 --> 05:04:47,080 THE PATIENT IS DISEASED WHEN HE IS 7913 05:04:47,080 --> 05:04:49,360 DIAGNOSED WITH A RARE DISEASE 7914 05:04:49,360 --> 05:04:51,040 PROGRESSIVE LUNG DISEASE, AT 7915 05:04:51,040 --> 05:04:54,040 NOVEMBER 2020. AFTER 7916 05:04:54,040 --> 05:04:57,040 UNDERGOING AN OPEN LUNG BIOPSY. A 7917 05:04:57,040 --> 05:04:59,480 WEEKS LATER AFTER THE DIAGNOSIS, 7918 05:04:59,480 --> 05:05:02,400 HE STARTED SEEING DR. D'ARMIENTO 7919 05:05:02,400 --> 05:05:03,720 VIA TELEHEALTH AND WILL CONTINUE 7920 05:05:03,720 --> 05:05:05,720 DOING IT THROUGH SOME MEDICALS 7921 05:05:05,720 --> 05:05:07,720 EMERGENCIES OR PROCEDURES 7922 05:05:07,720 --> 05:05:08,960 TAKE THE MOON'S PLACE FOLLOWING HIM 7923 05:05:08,960 --> 05:05:12,800 DIAGNOSIS. KRISTIN IS WATCHED 7924 05:05:12,800 --> 05:05:15,480 AND GUIDED THROUGH PROGRESSION 7925 05:05:15,480 --> 05:05:16,760 THE DISEASE IS ALL THROUGH 7926 05:05:16,760 --> 05:05:18,840 TELEHEALTH AND ALL COMMUNICATIONS 7927 05:05:18,840 --> 05:05:20,360 WITH DR. HAPPENED D'ARMIENTO 7928 05:05:20,360 --> 05:05:23,160 VIRTUAL AND DIGITAL. i 7929 05:05:23,160 --> 05:05:28,560 ALSO EXCITED TO INTRODUCE DR. 7930 05:05:28,560 --> 05:05:31,480 ANDREA GROPMAN, PRINCIPAL 7931 05:05:31,480 --> 05:05:35,520 INVESTIGATIONS WITH THE UREA CYCLE 7932 05:05:35,520 --> 05:05:37,800 DISORDER CONSORTIUM. Dr. 7933 05:05:37,800 --> 05:05:40,560 GROPMAN DOES RESEARCH AND 7934 05:05:40,560 --> 05:05:41,760 CARE FOR RARE PATIENTS 7935 05:05:41,760 --> 05:05:46,320 METABOLIC DISORDERS. HE IS 7936 05:05:46,320 --> 05:05:48,480 PI CONSORTIUM AND AFTER 7937 05:05:48,480 --> 05:05:53,200 16 YEARS OF INSIDE RESEARCH 7938 05:05:53,200 --> 05:05:55,120 UCDC, THE CAUSE OF THE PANDEMIC 7939 05:05:55,120 --> 05:05:57,400 RACES THAT ARE ABUNDANT AS RESEARCHERS 7940 05:05:57,400 --> 05:05:59,320 IT HAS TO TURN TO ADAPT TO THE NEW 7941 05:05:59,320 --> 05:06:01,440 HOW TO CONDUCT REMOTE RESEARCH 7942 05:06:01,440 --> 05:06:04,120 HERE FOR PATIENTS AND ALSO TO SERVE 7943 05:06:04,120 --> 05:06:07,280 AS A RESOURCE FOR THE UREA CYCLE 7944 05:06:07,280 --> 05:06:08,400 PATIENT COMMUNITY AS INFORMATION 7945 05:06:08,400 --> 05:06:09,680 ABOUT PANDEMIC AND VACCINES 7946 05:06:09,680 --> 05:06:12,080 COME TO LIFE. SO WE ARE SO 7947 05:06:12,080 --> 05:06:13,480 EXCITED TO HAVE THESE THREE 7948 05:06:13,480 --> 05:06:16,760 PANELISTS HERE TODAY. SO I WILL 7949 05:06:16,760 --> 05:06:19,760 LIKE GETTING STARTED. IT WILL 7950 05:06:19,760 --> 05:06:26,600 BE THE GENERAL KIND YOU CAN 7951 05:06:26,600 --> 05:06:29,720 SHARE ABOUT YOU AS A WHOLE 7952 05:06:29,720 --> 05:06:31,440 EXPERIENCE DURING -- IN 7953 05:06:31,440 --> 05:06:32,960 EARLY PANDEMIC? AND 7954 05:06:32,960 --> 05:06:35,760 WHAT IF YOU HAVE TO SWITCH 7955 05:06:35,760 --> 05:06:38,120 OR IT WILL BE SOMETHING YOU HAVE 7956 05:06:38,120 --> 05:06:40,200 IT'S COMFORTABLE TO DO WITH 7957 05:06:40,200 --> 05:06:42,320 TELEHEALTH? I'LL START WITH 7958 05:06:42,320 --> 05:06:44,120 ANDREA TO SHARE A LITTLE BIT 7959 05:06:44,120 --> 05:06:47,360 ABOUT HIS FIRST EXPERIENCE. 7960 05:06:47,360 --> 05:06:50,200 >> THANK YOU, TIFFANY. ME TOO 7961 05:06:50,200 --> 05:06:52,280 HEAD OF NEUROGENETICS DIVISION 7962 05:06:52,280 --> 05:06:53,360 AND NEURODEL DEVELOPMENT 7963 05:06:53,360 --> 05:06:55,360 DISABILITIES SO WE HAVE THERE 7964 05:06:55,360 --> 05:06:58,000 TRIALS WITH TELEHEALTH ARE OVER 7965 05:06:58,000 --> 05:07:00,400 THE SUMMER BEFORE THE PANDEMIC 7966 05:07:00,400 --> 05:07:03,440 BUT IT'S NOT MAIN FASHION. SO WHEN 7967 05:07:03,440 --> 05:07:06,440 THE PANDEMIC FORCES US TO 7968 05:07:06,440 --> 05:07:07,440 PATIENT BUSINESS TRANSFER TO 7969 05:07:07,440 --> 05:07:08,800 WE HAVE A LITTLE TELEHEALTH 7970 05:07:08,800 --> 05:07:10,360 EXPERIENCE WITH IT AND ABLE TO 7971 05:07:10,360 --> 05:07:12,720 O DO IT QUICKLY. IT 7972 05:07:12,720 --> 05:07:14,360 A LITTLE MORE RESEARCH 7973 05:07:14,360 --> 05:07:18,320 IT'S HARD FOR MANY OF US 7974 05:07:18,320 --> 05:07:19,080 CRITICAL REPLIER PATIENTS -- 7975 05:07:19,080 --> 05:07:19,920 REQUIRE PATIENTS TO COME AND 7976 05:07:19,920 --> 05:07:21,040 WE HAVE DONE THIS IN NUMBERS 7977 05:07:21,040 --> 05:07:23,320 FOR YEARS IN THE SAME WAY. REALLY 7978 05:07:23,320 --> 05:07:24,640 CAUSES US TO THINK FURTHER 7979 05:07:24,640 --> 05:07:26,720 FLEXIBLE WAY TO CARRY 7980 05:07:26,720 --> 05:07:29,560 PATIENTS USE ELECTRONICS 7981 05:07:29,560 --> 05:07:31,120 CONSENT FORM AND DISCLAIMER 7982 05:07:31,120 --> 05:07:32,920 SOME PROTOCOLS CANNOT 7983 05:07:32,920 --> 05:07:34,360 CONTINUE BECAUSE THEY DO 7984 05:07:34,360 --> 05:07:36,960 REQUIRES A FACIAL VIEW LIKE AN MRI 7985 05:07:36,960 --> 05:07:38,200 STUDIES AND THINGS LIKE THAT BUT 7986 05:07:38,200 --> 05:07:41,360 ONE THING CAME OUT OF IT 7987 05:07:41,360 --> 05:07:46,160 PANDEMIC FROM PATIENT ANDRY 7988 05:07:46,160 --> 05:07:47,920 LOOK FOR, TWO THINGS. IT 7989 05:07:47,920 --> 05:07:49,360 THE ABSENCE OF SOME PATIENTS IS NOT 7990 05:07:49,360 --> 05:07:52,520 ABLE TO HAVE RIGHTS 7991 05:07:52,520 --> 05:07:56,760 ACCESS BY TELEHEALTH OR 7992 05:07:56,760 --> 05:07:57,880 LAPTOP TELERESEARCH (INAUDIBLE). 7993 05:07:57,880 --> 05:07:59,920 OR SMART PHONE BUT TWO, TOO AN 7994 05:07:59,920 --> 05:08:01,520 OPPORTUNITIES FOR RESEARCH INTO 7995 05:08:01,520 --> 05:08:03,320 CARRYING POSSIBLE PATIENTS 7996 05:08:03,320 --> 05:08:05,520 WILL NOT BE ABLE 7997 05:08:05,520 --> 05:08:06,840 PARTICIPATE WITH OTHERS BECAUSE 7998 05:08:06,840 --> 05:08:14,320 GEOGRAPHICAL LIMITATIONS. 7999 05:08:14,320 --> 05:08:15,720 >> THANK YOU. Dr. LEGS ARM. 8000 05:08:15,720 --> 05:08:18,120 >> THANK YOU, TIFFANY. WE HAVE 8001 05:08:18,120 --> 05:08:19,920 EVERYTHING -- ALWAYS HAVE A METHOD 8002 05:08:19,920 --> 05:08:22,120 COMMUNICATE ELECTRONICALLY 8003 05:08:22,120 --> 05:08:23,680 WITH OUR MANY PATIENTS 8004 05:08:23,680 --> 05:08:26,680 THEY HAVE THE DEVICE OR USE IT 8005 05:08:26,680 --> 05:08:28,120 TALK TO US BY PHONE OR 8006 05:08:28,120 --> 05:08:31,600 VIA EMAIL. SO THAT'S IT 8007 05:08:31,600 --> 05:08:32,720 A LITTLE LESS CHALLENGE FOR US 8008 05:08:32,720 --> 05:08:34,080 POPULATION BUT WE HAVE NEVER -- 8009 05:08:34,080 --> 05:08:39,440 WE DO NOT DO VIDEO VISITS SO 8010 05:08:39,440 --> 05:08:41,160 ARE NERVES BECAUSE OF YOU 8011 05:08:41,160 --> 05:08:42,840 CAN'T HAVE A REAL CONVERSATION 8012 05:08:42,840 --> 05:08:47,360 AND THE CONNECTION IN THE FIRST. WHAT THE HELL 8013 05:08:47,360 --> 05:08:48,920 AT FIRST IT WAS HARD TO FIND 8014 05:08:48,920 --> 05:08:51,360 OTHER THAN IN THE MIDDLE 8015 05:08:51,360 --> 05:08:53,160 A PANDEMIC IS WHEN YOU MEET THE NEW 8016 05:08:53,160 --> 05:08:54,760 PATIENTS YOU CANNOT INVOLVE 8017 05:08:54,760 --> 05:08:58,520 THE WAY YOU WANT BUT ALL OF US 8018 05:08:58,520 --> 05:09:03,440 PATIENTS WE HAVE ESTABLISHED 8019 05:09:03,440 --> 05:09:04,840 FOUNDED REA-- FOUND IT 8020 05:09:04,840 --> 05:09:06,680 MAKE SURE TO CONNECT THROUGH 8021 05:09:06,680 --> 05:09:07,600 VIDEO, WE WOULD LOVE TO SEE IT 8022 05:09:07,600 --> 05:09:09,560 PEOPLE THROUGH FUN VIDEOS 8023 05:09:09,560 --> 05:09:10,720 THEY'RE ABOUT THE PANDEMIC AND 8024 05:09:10,720 --> 05:09:11,760 UNDERSTAND THE REGULATIONS AND 8025 05:09:11,760 --> 05:09:14,760 Mandate. SO THAT'S SO 8026 05:09:14,760 --> 05:09:19,520 HELP. 8027 05:09:19,520 --> 05:09:23,320 >> THANK YOU VERY MUCH. CAN YOU SHARE 8028 05:09:23,320 --> 05:09:25,720 HOW LITTLE ARE YOU USING TELEHEALTH 8029 05:09:25,720 --> 05:09:26,680 OR THIS IS SOMETHING NEW, WHAT 8030 05:09:26,680 --> 05:09:28,320 WHAT ARE YOUR THOUGHTS? 8031 05:09:28,320 --> 05:09:33,000 >> THANK YOU TIFFANY. I BECAME A 8032 05:09:33,000 --> 05:09:34,040 PATIENTS WITH RARE OR DISCOVERED DISEASES 8033 05:09:34,040 --> 05:09:36,120 BEYOND I HAVE A RARE DISEASE 8034 05:09:36,120 --> 05:09:38,920 PANDEMIC HIGH. SO 8035 05:09:38,920 --> 05:09:41,760 MY FIRST TELEHEALTH 8036 05:09:41,760 --> 05:09:45,320 ENGAGEMENT WITH TELEHEALTH. A 8037 05:09:45,320 --> 05:09:46,760 MENTIONED BEFORE, THE WEEK AFTER 8038 05:09:46,760 --> 05:09:50,520 DIAGNOSIS I STARTED SEEING DR. 8039 05:09:50,520 --> 05:09:51,520 D'ARMIENTO BECOMES A NEW TEMPORARY 8040 05:09:51,520 --> 05:09:55,160 FOR ME, THIS IS LIKE ME 8041 05:09:55,160 --> 05:09:56,400 NORMAL SINCE MY DIAGNOSIS 8042 05:09:56,400 --> 05:09:59,320 BECAUSE THAT'S THE ONLY ONE I'VE EVER BEEN 8043 05:09:59,320 --> 05:10:02,640 DOING IT IS VIA TREATMENT 8044 05:10:02,640 --> 05:10:04,760 TELEHEALTH IS VIDEO 8045 05:10:04,760 --> 05:10:07,640 OR AUDIO CALL. SO YES, I AM 8046 05:10:07,640 --> 05:10:08,480 SURE, THIS IS NEW TO ME BUT 8047 05:10:08,480 --> 05:10:11,960 I AM IN A DESPERATE SITUATION 8048 05:10:11,960 --> 05:10:14,480 AND I DON'T THINK ABOUT THE PROS 8049 05:10:14,480 --> 05:10:17,720 AND CONS OF TELEHEALTH, CONGRATULATIONS 8050 05:10:17,720 --> 05:10:19,400 HAS A NEW DOCTOR WHAT SHE DOES 8051 05:10:19,400 --> 05:10:21,720 HAVE DONE AND CAN TAKE 8052 05:10:21,720 --> 05:10:25,920 ME AND FACING ME AS I AM 8053 05:10:25,920 --> 05:10:27,400 SPIRALING FOR THE FIRST FEW 8054 05:10:27,400 --> 05:10:31,040 MY DIAGNOSIS MONTH. SO THAT'S IT 8055 05:10:31,040 --> 05:10:34,640 COME ON, IT TAKES STRESS AND ANXIETY 8056 05:10:34,640 --> 05:10:38,240 FROM ME AND MY SUPERVISOR WHO 8057 05:10:38,240 --> 05:10:41,600 THERE ARE MY PARENTS, SO COME ON -- THAT'S IT 8058 05:10:41,600 --> 05:10:45,560 THAT IS A GOOD THING FOR ME. AS 8059 05:10:45,560 --> 05:10:47,120 IT SAYS UNTIL TO THIS DAY I STILL DO 8060 05:10:47,120 --> 05:10:50,360 SEE DR. D'ARMIENTO VIA 8061 05:10:50,360 --> 05:10:51,080 TELEHEALTH AND CONTINUOUS HOPE 8062 05:10:51,080 --> 05:10:54,560 TO DO IT. SO THAT'S IT 8063 05:10:54,560 --> 05:10:55,520 INTERESTING, POSITIVE OVERALL 8064 05:10:55,520 --> 05:10:57,720 EXPERIENCE. 8065 05:10:57,720 --> 05:11:01,880 >> THANK YOU VERY MUCH. SO WITH 8066 05:11:01,880 --> 05:11:04,520 TELEMEDICINE TELEHEALTH IT 8067 05:11:04,520 --> 05:11:06,120 INVOLVES EVERYTHING DIFFERENT -- IT CAN 8068 05:11:06,120 --> 05:11:07,400 INVOLVES ALL DIFFERENT TYPES 8069 05:11:07,400 --> 05:11:09,960 TECHNOLOGY. Curious WHAT 8070 05:11:09,960 --> 05:11:11,320 OTHER DIFFERENT APPLICATIONS 8071 05:11:11,320 --> 05:11:14,200 WHICH YOU MAY HAVE USED DURING THIS TIME 8072 05:11:14,200 --> 05:11:18,760 THE TELEHEALTH REVEALS THAT 8073 05:11:18,760 --> 05:11:28,720 YOU BENEFIT. 8074 05:11:28,720 --> 05:11:31,720 >> -- EXPERIENCE. 8075 05:11:31,720 --> 05:11:34,320 >> EVERYONE HAS AN OX PULSE 8076 05:11:34,320 --> 05:11:36,640 HELPED US A LOT. IT IS 8077 05:11:36,640 --> 05:11:38,240 A LITTLE FRUSTRATION, THERE 8078 05:11:38,240 --> 05:11:40,600 SOME THINGS WE HAVE TO FACE 8079 05:11:40,600 --> 05:11:44,480 WITH WHICH WE WILL HAVE CHRISTIANITY 8080 05:11:44,480 --> 05:11:47,280 LOG WHAT HAPPENED AND SHOW IT 8081 05:11:47,280 --> 05:11:48,920 CERTAIN THINGS TO NOTE 8082 05:11:48,920 --> 05:11:57,880 COLOR OF OBJECTS AND ALSO 8083 05:11:57,880 --> 05:12:00,120 CHALLENGING BUT WE DON'T RELY ON IT 8084 05:12:00,120 --> 05:12:03,560 OUTSIDE TECHNOLOGY -- SO ME -- 8085 05:12:03,560 --> 05:12:05,360 IT'S HARD NOT TO LISTEN 8086 05:12:05,360 --> 05:12:06,640 PEOPLE'S LUNGS BECAUSE HA 8087 05:12:06,640 --> 05:12:08,000 SOMETHING WE CAN CHOOSE 8088 05:12:08,000 --> 05:12:12,880 THINGS AND IT'S FRUSTRATING. 8089 05:12:12,880 --> 05:12:15,520 THAT'S WHAT WE DO. 8090 05:12:15,520 --> 05:12:22,360 >> ANYTHING, DR. GROPMAN. 8091 05:12:22,360 --> 05:12:24,560 >> TO ADOPTION FOR TEST AND USE 8092 05:12:24,560 --> 05:12:26,880 FAMILY TO FACILITATE PART 8093 05:12:26,880 --> 05:12:28,400 TESTS WE USUALLY DO 8094 05:12:28,400 --> 05:12:30,120 HAND OR AFTER HAVING A 8095 05:12:30,120 --> 05:12:31,560 FAMILY SEND OUR PHOTOS 8096 05:12:31,560 --> 05:12:32,800 THINGS IF WE'RE INTERESTED 8097 05:12:32,800 --> 05:12:34,520 HOW YOUR FACIAL LOOKS OR 8098 05:12:34,520 --> 05:12:36,600 PAPER IN HAND, IF WE 8099 05:12:36,600 --> 05:12:37,720 CAN THE PATIENT MOVE TO 8100 05:12:37,720 --> 05:12:39,520 SCREEN, BUT OTHERS HAVE 8101 05:12:39,520 --> 05:12:43,600 TO SEND A SCREEN SHOT, OR 8102 05:12:43,600 --> 05:12:46,280 VIDEO REQUIRES MORE INFORMATION 8103 05:12:46,280 --> 05:12:47,520 WE ASKED HEM TO SEND US A VIDEO 8104 05:12:47,520 --> 05:12:54,600 AFTER. 8105 05:12:54,600 --> 05:12:58,520 >> THIS IS FOR DR. D'ARMIENTO. 8106 05:12:58,520 --> 05:13:02,080 IS THERE A SHARP PIVOT 8107 05:13:02,080 --> 05:13:02,720 TELEHEALTH DURING A PANDEMIC? 8108 05:13:02,720 --> 05:13:07,640 I KNOW YOU AND DR. DROPMAN 8109 05:13:07,640 --> 05:13:09,840 MENTIONED -- GROPMAN MENTIONED 8110 05:13:09,840 --> 05:13:13,400 YOU ARE USED TO A CERTAIN DEGREE 8111 05:13:13,400 --> 05:13:17,720 BUT A SHARP PIVOT ON COVID-19 8112 05:13:17,720 --> 05:13:18,640 HAVE IT? 8113 05:13:18,640 --> 05:13:20,160 >> IT'S A SHARP AND PIVOT 8114 05:13:20,160 --> 05:13:21,440 HOSPITALS DO NOT HAVE ANYTHING PERFECT 8115 05:13:21,440 --> 05:13:22,680 SYSTEM, DIFFICULT FOR PATIENTS 8116 05:13:22,680 --> 05:13:24,480 GO ON, WE'LL USE THEM 8117 05:13:24,480 --> 05:13:25,600 THEIR DEVICE BUT CAN'T 8118 05:13:25,600 --> 05:13:27,520 GET A HOSPITAL SYSTEM. 8119 05:13:27,520 --> 05:13:29,400 BUT THEN THINGS MOVED QUICKLY. I 8120 05:13:29,400 --> 05:13:33,520 IMPRESSED BY ITS SPEED 8121 05:13:33,520 --> 05:13:34,720 SOMETHING MANY FORD WANT 8122 05:13:34,720 --> 05:13:36,120 LISTENING TIME HAS BEEN DONE 8123 05:13:36,120 --> 05:13:39,720 WHEN IS IT REALLY NEEDED. 8124 05:13:39,720 --> 05:13:42,720 NOT LIKE PEOPLE DO NOT 8125 05:13:42,720 --> 05:13:43,720 REQUEST TELEHEALTH THROUGHOUT THE YEAR, 8126 05:13:43,720 --> 05:13:49,600 IT'S AMAZING HOW FAST WE ARE 8127 05:13:49,600 --> 05:13:50,440 DOES THE TABLE DO THAT. NOW 8128 05:13:50,440 --> 05:13:53,520 CONVENIENT FOR US. WE DO -- 8129 05:13:53,520 --> 05:13:56,520 STAY IN -- I DON'T THINK 8130 05:13:56,520 --> 05:13:59,480 THE MOST ACCURATE TELEHEALTH. 8131 05:13:59,480 --> 05:14:01,080 THE MOST ACCURATE TELEHEALTH IN 8132 05:14:01,080 --> 05:14:02,520 CONSULTANT FOLLOW UP AFTER 8133 05:14:02,520 --> 05:14:03,760 INITIAL DIAGNOSIS INCLUDES 8134 05:14:03,760 --> 05:14:07,800 DISCUSSION OF GENETIC TESTING OR 8135 05:14:07,800 --> 05:14:09,120 TREATMENT DECISIONS. WE FOUND 8136 05:14:09,120 --> 05:14:10,920 PATIENTS WITH EFFECTIVE LOCATION 8137 05:14:10,920 --> 05:14:11,920 BASIC CARE DOCTORS ARE WILLING 8138 05:14:11,920 --> 05:14:15,320 WORKING AT CONCERTS REMOTELY 8139 05:14:15,320 --> 05:14:18,440 RARE DISEASE SPECIALISTS WILL 8140 05:14:18,440 --> 05:14:19,960 BEST SERVICE VIA TELEHEALTH. 8141 05:14:19,960 --> 05:14:24,520 >> GREAT. ALWAYS SEARCH FROM 8142 05:14:24,520 --> 05:14:27,560 PATIENT PERSPECTIVE. THERE IS 8143 05:14:27,560 --> 05:14:29,640 ANY REPAIRS OR DIFFERENCES 8144 05:14:29,640 --> 05:14:32,640 YOU WANT TO SEE POSSIBLY 8145 05:14:32,640 --> 05:14:38,320 THE FUTURE OF TELEMED MINUTES 8146 05:14:38,320 --> 05:14:39,480 >> THERE'S NOTHING THAT COMES TO MIND IN THIS 8147 05:14:39,480 --> 05:14:41,960 POINT. I'M LUCKY TO HAVE IT 8148 05:14:41,960 --> 05:14:43,720 ACCESS TO THE TECHNOLOGY I NEED 8149 05:14:43,720 --> 05:14:48,600 AND HAVE A DOCTOR TO TAKE CARE OF AN 8150 05:14:48,600 --> 05:14:49,760 OPEN COMMUNICATION LINE 8151 05:14:49,760 --> 05:14:52,360 ALWAYS. I THINK I ONLY HAVE A FEW 8152 05:14:52,360 --> 05:14:54,280 ZOOM LOOK AT THE FACES OF MANY CALLS 8153 05:14:54,280 --> 05:14:57,120 MY COMMUNICATIONS WITH D'ARMIENTO 8154 05:14:57,120 --> 05:14:59,120 HAPPENING THROUGH SMS OR BY PHONE 8155 05:14:59,120 --> 05:15:01,520 CALL AT ONE POINT I THINK AT 8156 05:15:01,520 --> 05:15:03,200 THE HEIGHT OF MY DISEASE 8157 05:15:03,200 --> 05:15:08,160 SEND HIM TEXTS EVERY DAY. AND SO I AM 8158 05:15:08,160 --> 05:15:10,480 THINK OF THE NATURE OF TELEHEALTH 8159 05:15:10,480 --> 05:15:11,840 TELEHEALTH SINCE MY FIRST 8160 05:15:11,840 --> 05:15:14,880 EXPERIENCED AS A RARE DISEASE 8161 05:15:14,880 --> 05:15:16,200 PATIENTS, SET THE TONE FOR IT 8162 05:15:16,200 --> 05:15:18,520 DIGITAL COMMUNICATIONS. IF YOU 8163 05:15:18,520 --> 05:15:20,320 VERY COMFORTABLE TO DO THAT 8164 05:15:20,320 --> 05:15:25,080 FOR THAT I AM THANKFUL. THAT HAS BEEN 8165 05:15:25,080 --> 05:15:27,760 HAS BEEN AND OVERALL POSITIVE 8166 05:15:27,760 --> 05:15:30,400 EXPERIENCE. AND I HAVE 8167 05:15:30,400 --> 05:15:32,760 LUCKY TO HAVE A GREAT LOCAL 8168 05:15:32,760 --> 05:15:35,640 PULMONOLOGY AND WHO 8169 05:15:35,640 --> 05:15:38,320 WORKING WITH DR. 8170 05:15:38,320 --> 05:15:42,120 D. SO THAT'S REALLY EVERYTHING 8171 05:15:42,120 --> 05:15:43,880 IT STARTED SO I DIDN'T SEE IT 8172 05:15:43,880 --> 05:15:50,600 WHATEVER AFFECTS ME 8173 05:15:50,600 --> 05:15:53,280 OR CAN BE DONE. I MISS IT LIKE THAT 8174 05:15:53,280 --> 05:15:54,320 MAKING THAT CONNECTION DIRECTLY 8175 05:15:54,320 --> 05:15:57,120 WHICH IS SOMETHING THAT HAS BEEN 8176 05:15:57,120 --> 05:15:59,920 IT WAS MENTIONED BUT I HAVE -- I DON'T HAVE IT 8177 05:15:59,920 --> 05:16:01,080 THE MAIN CAME TO MINE, SORRY 8178 05:16:01,080 --> 05:16:02,000 MAY NOT BE THE ANSWER 8179 05:16:02,000 --> 05:16:07,320 YOU WANT. MY EXPERIENCE IS 8180 05:16:07,320 --> 05:16:08,720 DIFFERENT FROM OTHERS 8181 05:16:08,720 --> 05:16:10,200 SO OTHER PEOPLE HERE MUST BE THEM 8182 05:16:10,200 --> 05:16:12,240 THERE ARE DIFFERENT ANSWERS BUT 8183 05:16:12,240 --> 05:16:13,880 THAT'S LIKE WHERE I WAS 8184 05:16:13,880 --> 05:16:16,080 NOW WITH TELEHEALTH. 8185 05:16:16,080 --> 05:16:18,720 >> CHRISTY, THE FUNEL RIFF IS 8186 05:16:18,720 --> 05:16:21,640 WHEN HE CAME FOR X-RAY. 8187 05:16:21,640 --> 05:16:23,560 WE HAVEN'T SEEN ME YET 8188 05:16:23,560 --> 05:16:25,480 PARTNER AND I -- LIKE HE WAS DOWN 8189 05:16:25,480 --> 05:16:26,920 THERE, HE'S THERE AND WE'RE GOING 8190 05:16:26,920 --> 05:16:28,520 THERE AND HE GETS 8191 05:16:28,520 --> 05:16:30,080 A P RAY, WE ARE VERY EXCITED 8192 05:16:30,080 --> 05:16:32,280 ACTUALLY SEE HIM AND HIM 8193 05:16:32,280 --> 05:16:33,480 THE EXCITED TYPE. 8194 05:16:33,480 --> 05:16:35,120 >> THAT WAS THE FIRST TIME I MET YOU 8195 05:16:35,120 --> 05:16:37,560 Dr. D LIVE AND IT WAS VERY GOOD 8196 05:16:37,560 --> 05:16:39,560 MY CHANCE IS TO HAVE MEDICAL 8197 05:16:39,560 --> 05:16:41,040 I WAS TAKEN TO THE EMERGENCY 8198 05:16:41,040 --> 05:16:43,840 COLUMBIA NEW YORK CITY -- MORE 8199 05:16:43,840 --> 05:16:44,920 NEW YORK PRESBYTERIAN AND BY 8200 05:16:44,920 --> 05:16:46,840 THE CHANCE CAN MEET THEM AT 8201 05:16:46,840 --> 05:16:50,280 PEOPLE ARE NEVER NOTED INSIDE 8202 05:16:50,280 --> 05:16:51,520 VERY INTERESTING PEOPLE 8203 05:16:51,520 --> 05:16:54,720 JOURNEY AS A PATIENT. 8204 05:16:54,720 --> 05:16:55,400 >> THANK YOU VERY MUCH. 8205 05:16:55,400 --> 05:16:57,840 >> AS A FOLLOW-UP FROM THAT, 8206 05:16:57,840 --> 05:17:03,400 TELEMEDICINE IS NOT INTENDED FOR AN 8207 05:17:03,400 --> 05:17:04,720 EMERGENCY SITUATION, HE 8208 05:17:04,720 --> 05:17:05,920 DUE TERM SITUATION 8209 05:17:05,920 --> 05:17:07,240 COVID AND WE LEARNED THAT WE 8210 05:17:07,240 --> 05:17:08,160 IT CAN MANAGE, THAT'S IT 8211 05:17:08,160 --> 05:17:11,720 INTERESTING THAT WE CAN MANAGE 8212 05:17:11,720 --> 05:17:13,320 SOMEONE VIA TELEHEALTH WHO 8213 05:17:13,320 --> 05:17:17,360 HAD A VERY CRITICAL EVENT. 8214 05:17:17,360 --> 05:17:18,840 HIGHLY RECOMMEND THAT SORT 8215 05:17:18,840 --> 05:17:20,400 ABOUT THINGS THAT ARE NOT DONE USUALLY, 8216 05:17:20,400 --> 05:17:23,000 THAT YOU SEE PEOPLE LIKE THAT 8217 05:17:23,000 --> 05:17:27,200 ONCE AND MANAGE AFTER. 8218 05:17:27,200 --> 05:17:29,760 >> CORRECT. THANK YOU VERY MUCH. 8219 05:17:29,760 --> 05:17:31,760 QUESTIONS FOR DR. GROPMAN AND 8220 05:17:31,760 --> 05:17:35,920 ALONG THE SAME LINE, SO WHAT 8221 05:17:35,920 --> 05:17:37,240 DOES TELEHEALTH NOT WORK AND THERE IS 8222 05:17:37,240 --> 05:17:41,080 THERE ARE CASES THAT WE SHOULD NOT DO 8223 05:17:41,080 --> 05:17:41,360 TELEHEALTH? 8224 05:17:41,360 --> 05:17:42,200 >> I CAN ANSWER IN TERMS 8225 05:17:42,200 --> 05:17:44,240 RESEARCH BECAUSE YOU HEARD IT 8226 05:17:44,240 --> 05:17:45,800 EXPLANATION OF HOW 8227 05:17:45,800 --> 05:17:48,520 WORKS CLINICALLY. ADA A 8228 05:17:48,520 --> 05:17:50,000 FAST TRANSITION FOR PATIENTS 8229 05:17:50,000 --> 05:17:51,480 CARE BUT DON'T TOO MUCH 8230 05:17:51,480 --> 05:17:54,520 RESEARCH BECAUSE OF ALL OF US 8231 05:17:54,520 --> 05:17:55,720 THE PROTOCOL IS WRITTEN WITH ASSUMPTIONS 8232 05:17:55,720 --> 05:17:59,680 FACE TO FACE MEETING. SO WE 8233 05:17:59,680 --> 05:18:01,480 CLEARLY HAVE TO DO SOME TRIALS 8234 05:18:01,480 --> 05:18:03,600 ON HOLD BECAUSE WE CAN'T DO IT 8235 05:18:03,600 --> 05:18:05,360 THEY ARE FAR BUT WE HAVE OTHERS 8236 05:18:05,360 --> 05:18:07,160 TO CHANGE THE PROTOCOL TO ALLOW 8237 05:18:07,160 --> 05:18:10,480 ELECTRONIC CONSENT TO 8238 05:18:10,480 --> 05:18:11,680 EXAMPLE, FOR PORTAGE OF THE 8239 05:18:11,680 --> 05:18:13,640 EVALUATION IS CONDUCTED REMOTELY 8240 05:18:13,640 --> 05:18:18,240 AND OTHER PARTS, TRICKERS 8241 05:18:18,240 --> 05:18:19,320 GETTING BLOOD WE ARE ABLE TO 8242 05:18:19,320 --> 05:18:22,120 TO REPLACE THIS CHEEK 8243 05:18:22,120 --> 05:18:23,760 SWAB AFTER DNA SAMPLE 8244 05:18:23,760 --> 05:18:26,200 THAN PATIENTS GET BLOOD 8245 05:18:26,200 --> 05:18:27,240 DRAW IT AND SEND IT TO 8246 05:18:27,240 --> 05:18:29,120 PATIENT. I THINK DIFFERENT 8247 05:18:29,120 --> 05:18:31,680 EVALUATION ASPECTS AND 8248 05:18:31,680 --> 05:18:34,600 EXAM IS NOT PERFECT BY 8249 05:18:34,600 --> 05:18:35,520 TELEMEDICINE, WE CAN'T SEE 8250 05:18:35,520 --> 05:18:36,840 IN THEIR EYES EVEN THOUGH I WAS TOLD 8251 05:18:36,840 --> 05:18:40,520 THERE IS TECHNOLOGY 8252 05:18:40,520 --> 05:18:41,360 OPHTHALMOLOGIST WHERE THEY ARE 8253 05:18:41,360 --> 05:18:44,200 ABLE TO GET VERY DECENT RESULTS 8254 05:18:44,200 --> 05:18:46,000 LOOK AT PIE'S PUPIL, AND THEN 8255 05:18:46,000 --> 05:18:49,440 SOME NEUROLOGICAL ASPECTS 8256 05:18:49,440 --> 05:18:50,040 DYSMORPHOLOGY EXAMINATION, 8257 05:18:50,040 --> 05:18:54,880 ALTHOUGH IT GETS BETTER. HE 8258 05:18:54,880 --> 05:18:58,720 ALSO ALLOWS US TO OBTAIN RESEARCH 8259 05:18:58,720 --> 05:18:59,840 DATA IN WAYS THAT WE DO NOT PROVIDE 8260 05:18:59,840 --> 05:19:01,720 INTENDING TO BE AN EXAMPLE, MANY 8261 05:19:01,720 --> 05:19:03,480 FROM US NOTICE THAT OUR PATIENTS 8262 05:19:03,480 --> 05:19:05,160 MUCH HEALTHIER. SO WE 8263 05:19:05,160 --> 05:19:10,920 DOESN'T HAVE MUCH INTERIM 8264 05:19:10,920 --> 05:19:14,080 INCIDENT THAT THE PATIENT EXPERIENCES ANEMIA 8265 05:19:14,080 --> 05:19:14,920 WHEN STRESSED OR A 8266 05:19:14,920 --> 05:19:17,520 VIRAL TRIGGER OR OTHER DISEASE. 8267 05:19:17,520 --> 05:19:19,280 AND WE SEE THAT IT IS NOT 8268 05:19:19,280 --> 05:19:21,440 HAPPEN. PART OF OUR PROTOCOL 8269 05:19:21,440 --> 05:19:22,960 A TRUE LONGITUDINAL STUDY 8270 05:19:22,960 --> 05:19:24,600 NEED IT WHEN THE PATIENT 8271 05:19:24,600 --> 05:19:26,080 THERE'S A SHOW THEY'RE COMING BACK ON 8272 05:19:26,080 --> 05:19:28,400 FOR RESEARCH AND ASSESSMENT 8273 05:19:28,400 --> 05:19:30,320 OTHER ACTIONS TO BE TAKEN 8274 05:19:30,320 --> 05:19:31,520 LOOK AT THE TYPE OF SYMPTOMS 8275 05:19:31,520 --> 05:19:34,080 ALREADY AND IF THEY HEAL. SO WE 8276 05:19:34,080 --> 05:19:35,320 IT HAS BEEN FEWER DUE TO PATIENTS 8277 05:19:35,320 --> 05:19:36,920 IT DOESN'T SICK, THEY ARE SICK 8278 05:19:36,920 --> 05:19:45,120 AT HOME. THERE IS 8279 05:19:45,120 --> 05:19:45,920 INCORRECT INFORMATION ABOUT 8280 05:19:45,920 --> 05:19:49,480 PANDEMIC AND VACCINES SO WE TAKE 8281 05:19:49,480 --> 05:19:50,840 OPPORTUNITIES TO PROVIDE THE CITY 8282 05:19:50,840 --> 05:19:52,440 HALLS WITH PATIENT ADVOCACY 8283 05:19:52,440 --> 05:19:55,760 THE GROUP SO GIVES RESEARCHERS 8284 05:19:55,760 --> 05:19:56,640 MORE OPPORTUNITIES THAN 8285 05:19:56,640 --> 05:19:57,880 USUALLY TO INTERACT WITH 8286 05:19:57,880 --> 05:19:59,800 PATIENT ADVOCACY, USUALLY US 8287 05:19:59,800 --> 05:20:04,160 ONLY INTERACT WITH THEM ONCE A 8288 05:20:04,160 --> 05:20:05,840 YEAR, WE FEEL GOOD 8289 05:20:05,840 --> 05:20:07,400 OPPORTUNITIES AND IN US 8290 05:20:07,400 --> 05:20:08,440 RESPONSIBILITY TO UPDATE IT 8291 05:20:08,440 --> 05:20:11,920 WHAT'S HAPPENING WITH RESEARCH 8292 05:20:11,920 --> 05:20:15,760 AND ALSO INFORMATION ABOUT 8293 05:20:15,760 --> 05:20:18,720 VACCINES AND COVID. ALSO FOR 8294 05:20:18,720 --> 05:20:20,840 COLLECT PATIENT INFORMATION 8295 05:20:20,840 --> 05:20:21,880 ADVOCACY GROUPS GATHERED 8296 05:20:21,880 --> 05:20:26,120 INFORMATION ON WHO IS AFFECTED BY COVID 8297 05:20:26,120 --> 05:20:27,720 SOME MANIFESTATIONS 8298 05:20:27,720 --> 05:20:29,720 THEY DIFFER FROM THE DISEASE. TEMPORARY 8299 05:20:29,720 --> 05:20:32,160 SOME ARE RESISTANT THAT ALLOW US 8300 05:20:32,160 --> 05:20:33,640 COLLECT DIFFERENT RESEARCH DATA 8301 05:20:33,640 --> 05:20:35,880 SO I FEEL WE ARE NOT SLOW 8302 05:20:35,880 --> 05:20:37,840 COMPLETELY DOWN, WE'RE TRYING 8303 05:20:37,840 --> 05:20:39,920 KEEP YOUR RESEARCH THROUGH IT 8304 05:20:39,920 --> 05:20:42,600 IT MAY BE DIFFERENT 8305 05:20:42,600 --> 05:20:45,760 FORMAT. WHAT WE GET USED TO 8306 05:20:45,760 --> 05:20:45,960 DO. 8307 05:20:45,960 --> 05:20:49,160 >> OK. THANK YOU VERY MUCH 8308 05:20:49,160 --> 05:20:54,680 SO I'M A LITTLE CUTE ABOUT 8309 05:20:54,680 --> 05:20:56,160 SUPERVISOR, FAMILY INVOLVEMENT, 8310 05:20:56,160 --> 05:21:01,400 ENVIRONMENTAL CHANGES. Dr. 8311 05:21:01,400 --> 05:21:02,400 D'ARMIENTO CAN YOU COMMENT 8312 05:21:02,400 --> 05:21:02,600 THAT? 8313 05:21:02,600 --> 05:21:05,520 >> I'M FACING IT. I THINK ONE 8314 05:21:05,520 --> 05:21:06,800 VERY DIFFICULT THING 8315 05:21:06,800 --> 05:21:11,360 DURING VIRTUAL VISITS, USUALLY I 8316 05:21:11,360 --> 05:21:13,880 CAN SATISFY EVERYONE IN THE ROOM 8317 05:21:13,880 --> 05:21:16,720 WHERE CAN I INTERACT WITH ME 8318 05:21:16,720 --> 05:21:18,120 PATIENTS WHO MAKE EYE CONTACT 8319 05:21:18,120 --> 05:21:18,880 OR COMMUNICATE WITH 8320 05:21:18,880 --> 05:21:23,200 FAMILY. IT'S VERY NOT EASY 8321 05:21:23,200 --> 05:21:25,320 IN TELEHEALTH USUALLY HAVE 8322 05:21:25,320 --> 05:21:26,920 PEOPLE -- USUALLY YOU CAN 8323 05:21:26,920 --> 05:21:27,280 COMMENTS ON IT. 8324 05:21:27,280 --> 05:21:33,800 >> I WOULD SAY I'M IN A 8325 05:21:33,800 --> 05:21:34,960 THE SITUATION IS SATISFIED AND I AM 8326 05:21:34,960 --> 05:21:36,200 PARENTS REALLY WANT IT 8327 05:21:36,200 --> 05:21:40,560 INFORMATION AND ANSWERS. SO ME 8328 05:21:40,560 --> 05:21:42,840 FACE TO FACE ZOOM FIRST INITIAL 8329 05:21:42,840 --> 05:21:44,920 CONTACT WITH DR. D'ARMIENTO AND DR. 8330 05:21:44,920 --> 05:21:47,560 (INAUDIBLE) I HAVE PREPARED ME 8331 05:21:47,560 --> 05:21:50,880 MOTHER IS LIKE, BEHIND ME LIKE 8332 05:21:50,880 --> 05:21:52,600 LEANING IN, THAT'S SO AWKWARD 8333 05:21:52,600 --> 05:21:57,120 NATURE FOR ALL THINGS. FROM ME 8334 05:21:57,120 --> 05:21:58,560 NOT THINK AT A MOMENT BUT 8335 05:21:58,560 --> 05:21:59,800 IN PREPARATION IS DISCUSSION I 8336 05:21:59,800 --> 05:22:00,880 ALREADY THINKING AND LIKE YES, 8337 05:22:00,880 --> 05:22:05,520 IT'S A WEIRD INTERACTION, I 8338 05:22:05,520 --> 05:22:07,520 I CAN FEEL MY MOTHER'S ANXIETY, IT 8339 05:22:07,520 --> 05:22:13,240 IT WAS A VERY AWKWARD INTERACTION. 8340 05:22:13,240 --> 05:22:14,280 WITH US GET ALL THE INFORMATION 8341 05:22:14,280 --> 05:22:15,720 WE NEED IT ON TIME 8342 05:22:15,720 --> 05:22:17,600 DON'T THINK ABOUT IT ON 8343 05:22:17,600 --> 05:22:19,520 TIME. BUT THAT'S SOMETHING 8344 05:22:19,520 --> 05:22:24,000 REMEMBER NOW. 8345 05:22:24,000 --> 05:22:28,000 >> WE CAN FEEL WHEN THEY GET P 8346 05:22:28,000 --> 05:22:29,720 IN 30 MINUTES WE WILL ARRIVE 8347 05:22:29,720 --> 05:22:31,520 A. QUESTION, LET'S GET IT 8348 05:22:31,520 --> 05:22:34,520 HISTORY. BUT HE'S RIGHT, 8349 05:22:34,520 --> 05:22:36,240 THAT'S A VERY DIFFERENT MEMORY FOR 8350 05:22:36,240 --> 05:22:42,280 BOTH OF US. SO HARD TO 8351 05:22:42,280 --> 05:22:43,760 HAVE GROUP CONVERSATIONS 8352 05:22:43,760 --> 05:22:49,960 CLEAR ON ZOOM. SOMETIMES WE 8353 05:22:49,960 --> 05:22:51,120 NEED HELP FROM A CARER SO 8354 05:22:51,120 --> 05:22:53,160 INSIGHT IS NOT ALWAYS 8355 05:22:53,160 --> 05:22:58,320 AVAILABLE ON ZOOM. 8356 05:22:58,320 --> 05:23:01,080 >> I WANT TO ADD CAR TERMS 8357 05:23:01,080 --> 05:23:02,320 THEREFORE, I ALREADY HAVE IT 8358 05:23:02,320 --> 05:23:05,520 PROCEDURE THAT SHOULD BE PERFORMED EVERY DAY 8359 05:23:05,520 --> 05:23:06,960 AT HOME AND MY BROTHER DOES IT 8360 05:23:06,960 --> 05:23:10,720 HALF THE TIME IT'S ABLE 8361 05:23:10,720 --> 05:23:14,440 TEXT OR CALL DR. D OR DR. GOLD 8362 05:23:14,440 --> 05:23:16,720 WITH ANY QUESTIONS, MENTION ANYTHING 8363 05:23:16,720 --> 05:23:18,520 IMAGE. THAT BRINGS A LOT 8364 05:23:18,520 --> 05:23:20,840 HELP TO MY SISTER AND AT 8365 05:23:20,840 --> 05:23:22,080 HOME NURSES WHO HAVE CONCERNS ABOUT 8366 05:23:22,080 --> 05:23:25,120 IT'S SOON TIME 8367 05:23:25,120 --> 05:23:28,520 THE INFORMATION AND ANSWERS ARE CORRECT 8368 05:23:28,520 --> 05:23:32,760 HELP. IN NO EVENT 8369 05:23:32,760 --> 05:23:34,080 HAVE TO WORRY ABOUT TRAVEL 8370 05:23:34,080 --> 05:23:35,720 WHICH IS ALSO MENTIONED IN 8371 05:23:35,720 --> 05:23:39,080 LOGISTICS FOR GOING ANYWHERE, 8372 05:23:39,080 --> 05:23:41,360 WHAT DO I NEED CARE AND 8373 05:23:41,360 --> 05:23:43,960 MY GUIDE IS NOT PHYSICAL 8374 05:23:43,960 --> 05:23:47,640 MOBILE, NOT FOR ME 8375 05:23:47,640 --> 05:23:49,840 NOW. MUST PROVIDE OXYGEN 8376 05:23:49,840 --> 05:23:51,320 TANKS AROUND AND RECOVERY FROM 8377 05:23:51,320 --> 05:23:53,320 THERE ARE DIFFERENT PROCEDURES A 8378 05:23:53,320 --> 05:23:59,080 A HUGE LOAD ON MY SHOULDERS, 8379 05:23:59,080 --> 05:23:59,720 PARENTS MUST HAVE 8380 05:23:59,720 --> 05:24:01,240 TO PULL ME TO NEW YORK CITY TO 8381 05:24:01,240 --> 05:24:04,800 SEE A DOCTOR. SO IT HELPED A 8382 05:24:04,800 --> 05:24:07,040 A LOT. AND MADE LIKE -- US 8383 05:24:07,040 --> 05:24:12,000 ABLE TO FOCUS ON MY RECOVERY 8384 05:24:12,000 --> 05:24:14,880 NOT VERY BIG LOGISTICS 8385 05:24:14,880 --> 05:24:18,440 HELP. 8386 05:24:18,440 --> 05:24:22,680 >> ONE THING NEEDS TO ADD, AS WELL AS THAT 8387 05:24:22,680 --> 05:24:27,640 UNIQUE TIMES WITH COVID, LINK 8388 05:24:27,640 --> 05:24:29,400 WITH THE AL PA ONE FOUNDATION 8389 05:24:29,400 --> 05:24:32,720 COMMUNICATE WITH PATIENTS 8390 05:24:32,720 --> 05:24:34,120 OFTEN SO HELPING IN 8391 05:24:34,120 --> 05:24:36,720 ALSO WHAT WE NEED TO DO 8392 05:24:36,720 --> 05:24:38,280 VIA TELEMEDICINE DUE 8393 05:24:38,280 --> 05:24:39,720 THEY HAVE UNDERSTANDING 8394 05:24:39,720 --> 05:24:45,600 FROM THIS WEBINAR, IT'S AMAZING 8395 05:24:45,600 --> 05:24:47,600 WEBINAR, SO I THINK THAT'S IT 8396 05:24:47,600 --> 05:24:50,600 EXCITING COLLABORATION TREATMENT 8397 05:24:50,600 --> 05:24:51,640 FROM THE COMMUNITY 8398 05:24:51,640 --> 05:24:52,760 KEEPING THE PATIENT ON IT 8399 05:24:52,760 --> 05:24:54,200 AREAS. 8400 05:24:54,200 --> 05:24:55,760 >> TALK ABOUT IT, WILL YOU 8401 05:24:55,760 --> 05:25:00,840 IT HAPPENED TO KNOW WHATEVER 8402 05:25:00,840 --> 05:25:03,320 INITIATIVES OR THINGS THAT HAPPEN 8403 05:25:03,320 --> 05:25:08,160 OR IT HAPPENED FOR DIFFERENT PEOPLE 8404 05:25:08,160 --> 05:25:08,920 DIFFERENT POPULATIONS 8405 05:25:08,920 --> 05:25:16,360 BECAUSE OF HEALTH EQUITY ISSUES 8406 05:25:16,360 --> 05:25:18,800 CAN'T JUMP ON THE PHONE OR USE IT 8407 05:25:18,800 --> 05:25:20,240 RESOURCES. Get to know 8408 05:25:20,240 --> 05:25:20,800 IS ANYTHING HAPPENING? 8409 05:25:20,800 --> 05:25:24,360 >> THAT'S A GOOD -- ME -- US 8410 05:25:24,360 --> 05:25:25,360 HOSPITALS IN NEW YORK CITY AND 8411 05:25:25,360 --> 05:25:29,760 THE HEIGHTS OF WASHINGTON WE HAVE A 8412 05:25:29,760 --> 05:25:30,920 PATIENT COMMUNITIES THAT DO NOT 8413 05:25:30,920 --> 05:25:33,880 HAVE RESOURCES. LIKE I SAID WE 8414 05:25:33,880 --> 05:25:38,200 HAVE COMMUNICATED THROUGH 8415 05:25:38,200 --> 05:25:41,080 TECHNOLOGY MOSTLY. AND 8416 05:25:41,080 --> 05:25:42,800 I THINK WE - IT'S IMPORTANT TO 8417 05:25:42,800 --> 05:25:44,920 MAKE ADJUSTMENTS TO PEOPLE 8418 05:25:44,920 --> 05:25:46,880 NOT ACCEPT A PERFECT VISIT, 8419 05:25:46,880 --> 05:25:48,400 SOMEONE IS ON HIS PHONE 8420 05:25:48,400 --> 05:25:51,120 IT'S NOT GOOD AND I'LL TAKE TIME. 8421 05:25:51,120 --> 05:25:54,800 THERE ARE MANY PEOPLE WHO ADVANCE 8422 05:25:54,800 --> 05:25:56,520 TECHNOLOGY BUT PEOPLE WORK AND 8423 05:25:56,520 --> 05:25:58,160 SOMETIMES THE ONLY ONE THEY CAN 8424 05:25:58,160 --> 05:26:00,720 THE VISIT WAS VERY INDEED 8425 05:26:00,720 --> 05:26:02,280 WORKPLACE BATHROOM. 8426 05:26:02,280 --> 05:26:04,280 DOCTOR NEEDED 8427 05:26:04,280 --> 05:26:07,160 ACCOMMODATION TO PATIENT NEEDS 8428 05:26:07,160 --> 05:26:08,720 ESPECIALLY NOW WHEN PEOPLE ARE OUT 8429 05:26:08,720 --> 05:26:10,320 FIGHT AND THERE ARE MANY 8430 05:26:10,320 --> 05:26:12,800 PROBLEMS WE ARE TRYING TO FACILITATE 8431 05:26:12,800 --> 05:26:14,480 VISIT, WE DO NOT WANT PATIENTS 8432 05:26:14,480 --> 05:26:17,600 MISSING FOR FOLLOW UP. BECAUSE 8433 05:26:17,600 --> 05:26:18,880 ABOUT THE STRESS THEY ARE EXPERIENCED 8434 05:26:18,880 --> 05:26:20,440 EVEN THOUGH WE ARE OPEN, THEY MAY 8435 05:26:20,440 --> 05:26:22,000 DO NOT GET TO US. SO WE REACHED OUT 8436 05:26:22,000 --> 05:26:24,880 AND SAY LET'S JUMP TO THE VIDEO 8437 05:26:24,880 --> 05:26:26,120 CALL, CONTACT US SO YOU CAN 8438 05:26:26,120 --> 05:26:29,760 LOOK WHAT YOU DO. 8439 05:26:29,760 --> 05:26:32,880 >> THANK YOU. SO DR. GROPMAN, 8440 05:26:32,880 --> 05:26:35,000 WHERE DO YOU GO LOOKING 8441 05:26:35,000 --> 05:26:36,280 TOOL INFORMATION 8442 05:26:36,280 --> 05:26:39,160 RESEARCHERS TO USE TO CONTINUE 8443 05:26:39,160 --> 05:26:41,480 RESEARCH LIKE DATA ON 8444 05:26:41,480 --> 05:26:43,160 RECRUITMENT RETENTION RATE, 8445 05:26:43,160 --> 05:26:45,080 SATISFACTION SURVEY NO 8446 05:26:45,080 --> 05:26:47,080 AVAILABLE, ARE YOU THERE 8447 05:26:47,080 --> 05:26:51,320 EXPECTATIONS FOR HOW THE DATA LOOKS? 8448 05:26:51,320 --> 05:26:53,600 >> AS PART OF A RARE DISEASE 8449 05:26:53,600 --> 05:26:54,720 CLINICAL DISEASE RESEARCH 8450 05:26:54,720 --> 05:26:56,560 NETWORK PRINCIPAL INVESTIGATOR 8451 05:26:56,560 --> 05:26:59,960 FROM OTHER CONSORTIA WILL 8452 05:26:59,960 --> 05:27:01,680 GRAMMING THE SAME AND QUESTIONS 8453 05:27:01,680 --> 05:27:04,760 WE HAVE GUIDANCE FROM THIS 8454 05:27:04,760 --> 05:27:07,400 PARTNERS AND DMCC SO THEY ARE HELPING 8455 05:27:07,400 --> 05:27:12,280 WE HAVE THE LANGUAGE TO MOVE 8456 05:27:12,280 --> 05:27:14,120 PROTOCOL FOR HAVING CONSENT E 8457 05:27:14,120 --> 05:27:17,280 AND STANDARDIZATION THROUGHOUT 8458 05:27:17,280 --> 05:27:19,120 CONSORTIUM. SO I THINK THAT'S IT 8459 05:27:19,120 --> 05:27:20,080 DIFFERENT FOR EVERY DISEASE 8460 05:27:20,080 --> 05:27:22,600 POPULATION IN WHAT TERMS 8461 05:27:22,600 --> 05:27:26,720 FACE TO FACE IS PART OF YOU 8462 05:27:26,720 --> 05:27:31,520 DATA COLLECTION VERSUS DIS 8463 05:27:31,520 --> 05:27:32,520 DISRUPTION IS MORE SURVEY BASED 8464 05:27:32,520 --> 05:27:34,360 AND THEY NEED TO SEE THE SAME THING 8465 05:27:34,360 --> 05:27:36,040 PATIENTS FACING THE SAME WAY 8466 05:27:36,040 --> 05:27:37,720 TO FACE BUT IT'S BEGINNING 8467 05:27:37,720 --> 05:27:39,800 FROM THE BASE TO THE TOP BECAUSE IT'S THERE 8468 05:27:39,800 --> 05:27:41,520 NO TOY BOOKS, NO ONE HAS 8469 05:27:41,520 --> 05:27:43,200 DONE, JUST TRYING THE PICTURE 8470 05:27:43,200 --> 05:27:46,200 IT IS DONE BY YOURSELF WITH GUIDELINES 8471 05:27:46,200 --> 05:27:48,120 FROM NIH CMCC AND OTHERS 8472 05:27:48,120 --> 05:27:51,440 CONSORTIUM WHAT THEY HAVE DONE. 8473 05:27:51,440 --> 05:27:53,880 SO I THINK THERE'S DEFINITELY THERE 8474 05:27:53,880 --> 05:27:55,920 IMPERFECTION IN THE DATA COLLECTED. 8475 05:27:55,920 --> 05:27:58,800 ALL THE TIME WE ARE ABLE 8476 05:27:58,800 --> 05:28:01,560 GET YOUR PILOT STUDY APPROVED 8477 05:28:01,560 --> 05:28:02,560 COMPARE TRADITIONAL 8478 05:28:02,560 --> 05:28:03,800 THAT NEUROCOGNITIVE TEST 8479 05:28:03,800 --> 05:28:04,920 FACE WITH THIS 8480 05:28:04,920 --> 05:28:11,240 TOOL BOX. AND DO TOOLBOX 8481 05:28:11,240 --> 05:28:12,320 SO WE HAVE INFORMATION 8482 05:28:12,320 --> 05:28:14,360 ABOUT EFFECTIVENESS AND 8483 05:28:14,360 --> 05:28:16,520 IMPLEMENTATION OF IT. AND HOW 8484 05:28:16,520 --> 05:28:19,080 COME PARIS TO TRADITIONAL 8485 05:28:19,080 --> 05:28:21,320 FACE-TO-FACE TEST. I THINK 8486 05:28:21,320 --> 05:28:23,920 THAT IN ANOTHER WAY WE COME 8487 05:28:23,920 --> 05:28:25,320 TOGETHER IN A CONSORTIUM 8488 05:28:25,320 --> 05:28:29,960 ADDRESS PROBLEMS WE NEVER HAVE 8489 05:28:29,960 --> 05:28:31,680 SEE IF WE'RE RECRUITING 8490 05:28:31,680 --> 05:28:33,320 PATIENTS FROM ALL ETHNICITIES 8491 05:28:33,320 --> 05:28:34,880 BACKGROUND. NOW WHAT WE HAVE 8492 05:28:34,880 --> 05:28:36,480 TELEHEALTH IS WHAT IT IS 8493 05:28:36,480 --> 05:28:42,080 IT WILL INCREASE OUR REACH 8494 05:28:42,080 --> 05:28:43,160 PATIENTS WHO DO NOT PARTICIPATE 8495 05:28:43,160 --> 05:28:47,000 IN RESEARCH STUDIES. WHILE SOME 8496 05:28:47,000 --> 05:28:49,080 IT'S A HARD THING TO DO, THAT 8497 05:28:49,080 --> 05:28:51,120 MORE INNOVATIVE AND MORE ALLOWED 8498 05:28:51,120 --> 05:28:53,000 INCLUSIVE AND ATTENTION IN DEPTH 8499 05:28:53,000 --> 05:28:55,480 PATIENCE TO CONFIRM OUR DATA 8500 05:28:55,480 --> 05:29:02,040 APPLIES ALL ETHNICITIES 8501 05:29:02,040 --> 05:29:03,480 BACKGROUND. 8502 05:29:03,480 --> 05:29:06,600 >> THANK YOU. 8503 05:29:06,600 --> 05:29:08,240 >> ONE THING THAT'S GOOD AS COVID MOVES ON 8504 05:29:08,240 --> 05:29:11,080 FOR NEW PHASE, WE CAN USE 8505 05:29:11,080 --> 05:29:14,120 TELEHEALTH AS BACKUP. SO WHEN 8506 05:29:14,120 --> 05:29:16,560 THE OMICRON SURGE IS COMING 8507 05:29:16,560 --> 05:29:17,920 NEW YORK CITY IN LATE NOVEMBER 8508 05:29:17,920 --> 05:29:19,520 EARLY DECEMBER, WE WILL BE CLOSED 8509 05:29:19,520 --> 05:29:22,320 BACK TELEHEALTH AND CALM 8510 05:29:22,320 --> 05:29:24,640 SEND A LETTER SAYING THIS 8511 05:29:24,640 --> 05:29:26,640 TEMPORARY. SO I THINK WE 8512 05:29:26,640 --> 05:29:28,400 PATIENTS CAN START TO LEARN HOW TO DO IT 8513 05:29:28,400 --> 05:29:30,320 TO ADJUST. EVEN INSIDE 8514 05:29:30,320 --> 05:29:33,960 CLINICAL TRIALS THAT WE ARE MANAGING 8515 05:29:33,960 --> 05:29:35,720 COVID BY USING TO CARRY PATIENTS 8516 05:29:35,720 --> 05:29:37,720 IN USING THE MANUFACTURING TEST 8517 05:29:37,720 --> 05:29:42,680 FEEL COMFORTABLE. THAT'S SO 8518 05:29:42,680 --> 05:29:45,320 IT'S IMPORTANT THAT WE PAY ATTENTION 8519 05:29:45,320 --> 05:29:46,760 SECURITY AND WILL NOT TAKE THEM AWAY 8520 05:29:46,760 --> 05:29:50,080 UNLESS THERE'S BIG 8521 05:29:50,080 --> 05:29:52,960 Spike. SO SAY HEALTH ALLOWS US 8522 05:29:52,960 --> 05:29:55,320 THAT FLEXIBILITY. -- TELEHEALTH 8523 05:29:55,320 --> 05:29:58,240 ALLOWS SUCH FLEXIBILITY. 8524 05:29:58,240 --> 05:30:00,480 >> NOW WE MOVE TO 8525 05:30:00,480 --> 05:30:03,560 ANOTHER PANDEMIC PHASE, 8526 05:30:03,560 --> 05:30:11,160 WHAT DO YOU SEE DR. D'ARMIENTO 8527 05:30:11,160 --> 05:30:12,800 IN PARTICULAR, WILL WE 8528 05:30:12,800 --> 05:30:16,720 DOCTORS AND CLIENTS TAKE CARE OF IT 8529 05:30:16,720 --> 05:30:20,560 LIKE THAT OR SOME KIND 8530 05:30:20,560 --> 05:30:21,240 HYBRID, WHERE YOU THINK 8531 05:30:21,240 --> 05:30:22,520 THE FUTURE WILL 8532 05:30:22,520 --> 05:30:24,560 >> I THOUGHT WHERE YOU WERE 8533 05:30:24,560 --> 05:30:25,920 LOCATION BECAUSE IF YOU 8534 05:30:25,920 --> 05:30:28,440 ALLOWED TO DO THAT BY 8535 05:30:28,440 --> 05:30:30,680 REGULATIONS, FOR TELEHEALTH. US 8536 05:30:30,680 --> 05:30:31,920 INTENTION TO GO FOR AS LONG AS WE CAN KEEP IT UP 8537 05:30:31,920 --> 05:30:34,240 IT WILL BE A HYBRID, LIKE YOU 8538 05:30:34,240 --> 05:30:38,280 SAYS. THIS ALLOWS US TO SEE -- 8539 05:30:38,280 --> 05:30:41,120 CLOSE MORE POSSIBLE FOLLOW-UP 8540 05:30:41,120 --> 05:30:42,720 REQUIRED. WE HAVE PACKAGING 8541 05:30:42,720 --> 05:30:45,320 IT'S DIFFICULT TO SCHEDULE CLINICS AND 8542 05:30:45,320 --> 05:30:47,520 WE CAN EASILY ADD PEOPLE AT ANY TIME 8543 05:30:47,520 --> 05:30:48,560 TELEMEDICINE BECAUSE THEY JUST 8544 05:30:48,560 --> 05:30:49,840 WANT TO CONNECT WITH US. A LOT 8545 05:30:49,840 --> 05:30:51,400 PATIENTS ARE YOUNG AND 8546 05:30:51,400 --> 05:30:54,760 SOMETIMES THERE IS THAT QUESTION 8547 05:30:54,760 --> 05:30:57,040 IT'S NOT EVEN COMPLETELY MEDICAL 8548 05:30:57,040 --> 05:30:57,920 QUESTIONS, MANDATORY LIKE 8549 05:30:57,920 --> 05:30:59,640 PHYSICAL PROBLEMS BUT THERE ARE 8550 05:30:59,640 --> 05:31:00,640 HEAR SOMETHING AND THEY NEED IT 8551 05:31:00,640 --> 05:31:03,880 TALK TO US. SO WE ARE NOW 8552 05:31:03,880 --> 05:31:05,920 DEVELOPMENT OF WAYS WE CAN DO IT 15 8553 05:31:05,920 --> 05:31:09,120 MINUTES TO HAVE IF YOU DO -- 8554 05:31:09,120 --> 05:31:12,280 BEING A HYBRID IS THE MOST IMPORTANT. 8555 05:31:12,280 --> 05:31:14,280 ALSO JUST HAVE TO BE AWARE 8556 05:31:14,280 --> 05:31:16,520 TELEHEALTH REALLY DOESN'T WORK 8557 05:31:16,520 --> 05:31:19,560 GOOD IS OBVIOUS IN ANY LIFE 8558 05:31:19,560 --> 05:31:22,440 THREATENING CONDITIONS. EXCEPT 8559 05:31:22,440 --> 05:31:26,360 COVID AND IN ACUTE TERMS 8560 05:31:26,360 --> 05:31:27,480 NECESSARY DISEASES 8561 05:31:27,480 --> 05:31:30,480 INTERVENTIONS AND SOME TOO 8562 05:31:30,480 --> 05:31:35,320 PATIENTS MAY HAVE LOW DIGITAL 8563 05:31:35,320 --> 05:31:36,320 LITERACY BUT SOMETIMES REQUIRES 8564 05:31:36,320 --> 05:31:42,840 MORE INTERACTION ON OUR VISIT 8565 05:31:42,840 --> 05:31:45,080 TRANSLATION SERVICES USED ON 8566 05:31:45,080 --> 05:31:46,520 SAY HEALTH BUT SOMETIMES THAT IS 8567 05:31:46,520 --> 05:31:48,320 WORK BETTER PERSONALLY, SO YOU 8568 05:31:48,320 --> 05:31:49,480 MUST ASSESS EACH OF THEM 8569 05:31:49,480 --> 05:31:54,200 INDIVIDUALLY. I HOPE IT'S HERE 8570 05:31:54,200 --> 05:31:55,960 TO STAY. I TOTALLY DO IT. I THINK 8571 05:31:55,960 --> 05:32:01,080 HELPED US A LOT. I LIKE WHAT DR. 8572 05:32:01,080 --> 05:32:02,520 GROPMAN SAYS WE CAN THINK 8573 05:32:02,520 --> 05:32:04,560 ABOUT HOW TO COMBINE 8574 05:32:04,560 --> 05:32:08,000 TELEHEALTH TECHNOLOGY AT PT 8575 05:32:08,000 --> 05:32:08,840 RESEARCH, THAT WOULD BE GREAT 8576 05:32:08,840 --> 05:32:10,720 FOR RESEARCH STUDIES BECAUSE 8577 05:32:10,720 --> 05:32:13,360 SOMETIMES PATIENTS CAN WORK 8578 05:32:13,360 --> 05:32:15,040 PARTICIPATE IN TRIALS AND 8579 05:32:15,040 --> 05:32:16,520 WHEN YOU HAVE THEIR OTHER METHODS 8580 05:32:16,520 --> 05:32:19,960 YOU CAN GET INVOLVED, AND DON'T LOSE YOUR TIME 8581 05:32:19,960 --> 05:32:21,200 MORE JOBS YOU MAY GET 8582 05:32:21,200 --> 05:32:26,280 PARTICIPATION. 8583 05:32:26,280 --> 05:32:28,560 >> THANK YOU. ANY ADVICE 8584 05:32:28,560 --> 05:32:30,080 THE FUTURE OF TELEHEALTH OR THINGS 8585 05:32:30,080 --> 05:32:33,200 DO YOU WANT TO SEE IT? 8586 05:32:33,200 --> 05:32:35,560 >> ECHO DR. D'ARMIENTO BUT ME 8587 05:32:35,560 --> 05:32:37,560 HOPE IT'S HERE TO STAY AS 8588 05:32:37,560 --> 05:32:42,520 GOOD FOR THOSE WHO WORK BEST 8589 05:32:42,520 --> 05:32:45,200 TO. AS I MENTIONED BEFORE, 8590 05:32:45,200 --> 05:32:47,680 IT WORKS WELL FOR ME BECAUSE I AM 8591 05:32:47,680 --> 05:32:50,600 HAS A BEAUTIFUL LOCAL 8592 05:32:50,600 --> 05:32:51,320 REAL PULMONOLOGY I 8593 05:32:51,320 --> 05:32:54,640 WILL GO AND DO A TEST 8594 05:32:54,640 --> 05:32:55,440 AND THE SWORD GET A GUIDE 8595 05:32:55,440 --> 05:33:01,280 AND INSIGHTS FROM DR. D'ARMIENTO, 8596 05:33:01,280 --> 05:33:04,120 HAVING THAT IN PEOPLE'S CARE IS 8597 05:33:04,120 --> 05:33:06,560 NEEDED, IT DEPENDS ON YOU 8598 05:33:06,560 --> 05:33:08,520 YOUR NEEDS AND HEALTH BUT DEEP 8599 05:33:08,520 --> 05:33:11,800 CONDITIONS ONLY CONNECT AND 8600 05:33:11,800 --> 05:33:13,240 GET INFORMATION AND 8601 05:33:13,240 --> 05:33:14,320 TELEHEALTH SCIENCE ALREADY EXISTS 8602 05:33:14,320 --> 05:33:15,840 A WONDERFUL RESOURCE FOR ME AND 8603 05:33:15,840 --> 05:33:20,480 FOR MY FAMILY. SO I HOPE THAT 8604 05:33:20,480 --> 05:33:21,920 IT'S HERE TO STAY AND I'M PLANNING TO 8605 05:33:21,920 --> 05:33:25,600 CONTINUE SEEING DR. D'ARMIENTO, 8606 05:33:25,600 --> 05:33:29,040 WITH THAT, UNTIL I CAN 8607 05:33:29,040 --> 05:33:30,720 MAKE IT THERE DIRECTLY. WHAT 8608 05:33:30,720 --> 05:33:32,160 I AM NONE OF THOSE PEOPLE 8609 05:33:32,160 --> 05:33:34,040 MEANS EVERYTHING IS GOING WELL SO ME 8610 05:33:34,040 --> 05:33:35,120 ALSO HOPE I DON'T SEE YOU 8611 05:33:35,120 --> 05:33:38,720 PEOPLE. QUICK. KNOWING I HAVE 8612 05:33:38,720 --> 05:33:42,120 THEY ARE MORE RESOURCES 8613 05:33:42,120 --> 05:33:43,760 EASIER THAN I GET 8614 05:33:43,760 --> 05:33:46,680 TELEHEALTH DOES NOT EXIST. SO I DID 8615 05:33:46,680 --> 05:33:49,120 HOPE IS HERE TO STAY. 8616 05:33:49,120 --> 05:33:52,120 >> THANK YOU. LAST COMMENT FROM 8617 05:33:52,120 --> 05:33:55,680 Dr. GROPMAN ON THE FUTURE 8618 05:33:55,680 --> 05:33:57,280 TELEHEALTH AND RESEARCH. 8619 05:33:57,280 --> 05:33:58,960 >> I THINK THAT'S NECESSARY 8620 05:33:58,960 --> 05:34:00,960 TAKE ADVANTAGE OF TELEHEALTH AND 8621 05:34:00,960 --> 05:34:05,280 TECHNOLOGY CAN GIVE US TO 8622 05:34:05,280 --> 05:34:07,160 YOU KNOW INVESTIGATION RESEARCH. 8623 05:34:07,160 --> 05:34:08,600 REMOTE MONITORING IS AVAILABLE 8624 05:34:08,600 --> 05:34:10,120 SEVERAL TYPES OF MONITORS ARE POSSIBLE 8625 05:34:10,120 --> 05:34:15,160 SENT TO THE PATIENT, CAN BE USED 8626 05:34:15,160 --> 05:34:17,960 DEVICE. I HI THE CLOSE 8627 05:34:17,960 --> 05:34:20,120 PART OF THE BOX IS FINISHED 8628 05:34:20,120 --> 05:34:21,640 TALK BUT WE REALLY NEED TO 8629 05:34:21,640 --> 05:34:27,280 Delve inside and see how we can 8630 05:34:27,280 --> 05:34:29,480 EXPAND TECHNOLOGY TO CAPTURE 8631 05:34:29,480 --> 05:34:32,040 EVENTS IN REAL TIME. IN 8632 05:34:32,040 --> 05:34:33,640 THE PATIENT'S LIFE MAY BE MORE 8633 05:34:33,640 --> 05:34:36,360 THE MEANING OF WHAT WE BRING 8634 05:34:36,360 --> 05:34:37,360 OUR SITUATION IS TO EXPAND RANGE 8635 05:34:37,360 --> 05:34:40,760 ACROSS GEOGRAPHIES AND PATIENTS 8636 05:34:40,760 --> 05:34:43,400 WHO CAN CATCH 8637 05:34:43,400 --> 05:34:46,720 AND REALLY ENCOURAGED 8638 05:34:46,720 --> 05:34:48,560 ENENVELOPE GO FORWARD AND JUST ENTER IT 8639 05:34:48,560 --> 05:34:49,920 OUR HEADS ARE TOGETHER AND THINK 8640 05:34:49,920 --> 05:34:53,320 ABOUT HOW WE CAN BE INNOVATIVE 8641 05:34:53,320 --> 05:34:56,600 AND DO PROPER RESEARCH 8642 05:34:56,600 --> 05:34:57,960 TELL US WHAT'S IMPORTANT TO YOU 8643 05:34:57,960 --> 05:35:00,920 THE PATIENT AND THEIR DAY 8644 05:35:00,920 --> 05:35:03,200 ALIVE. 8645 05:35:03,200 --> 05:35:04,760 >> THANK YOU SO MUCH ESPECIALLY 8646 05:35:04,760 --> 05:35:08,560 TO THE PANELISTS AND HEIDI, US 8647 05:35:08,560 --> 05:35:09,720 DEFINITELY -- I WILL DEFINITELY LEARN 8648 05:35:09,720 --> 05:35:12,480 A LOT SO I HOPE THOSE ARE WATCHING 8649 05:35:12,480 --> 05:35:13,400 ALSO RECEIVE INFORMATION 8650 05:35:13,400 --> 05:35:25,720 TOO. THANK YOU. 8651 05:35:25,720 --> 05:35:31,720 >> WELCOME TO THE FINAL SESSION 8652 05:35:31,720 --> 05:35:33,160 ABOUT LONG JOURNEY AND 8653 05:35:33,160 --> 05:35:34,680 BEAUTIFUL DIAGNOSTIC ROAD 8654 05:35:34,680 --> 05:35:37,000 ODYSSEY FOR RARE AND UNDIAGNOSAZED 8655 05:35:37,000 --> 05:35:39,200 CONDITION. YOU DID IT. IN 8656 05:35:39,200 --> 05:35:40,360 THIS SESSION WE BRING YOU 8657 05:35:40,360 --> 05:35:42,120 NIH PROFESSIONAL PANEL, 8658 05:35:42,120 --> 05:35:43,920 PATIENTS AND CARERS 8659 05:35:43,920 --> 05:35:47,760 WILL SHARE YOUR HAIR EXPERIENCE FROM 8660 05:35:47,760 --> 05:35:49,120 THEIR DIAGNOSTIC EXPOSURE. ALSO 8661 05:35:49,120 --> 05:35:51,920 WE WILL GIVE YOU USEFUL 8662 05:35:51,920 --> 05:35:56,360 TOOLS AND RESOURCES. OUR FIRST 8663 05:35:56,360 --> 05:36:00,320 PANELIST IS DR. CYNTHIA TIFT 8664 05:36:00,320 --> 05:36:02,800 FROM NATIONAL RESEARCH 8665 05:36:02,800 --> 05:36:05,600 INSTITUTE, NIH. DIRECTOR 8666 05:36:05,600 --> 05:36:06,520 UNDIAGNOZED Z DISEASE PROGRAM 8667 05:36:06,520 --> 05:36:08,320 AND WILL PROVIDE BRIEFLY 8668 05:36:08,320 --> 05:36:09,360 GENERAL DESCRIPTION OF WHAT DIAGNOSTICS IS 8669 05:36:09,360 --> 05:36:15,800 wandering. OUR NEXT PANELIST IS 8670 05:36:15,800 --> 05:36:21,600 TROY EVANS. HE HAS 8671 05:36:21,600 --> 05:36:22,760 FOR WINNER OF undiagnosed diseases 8672 05:36:22,760 --> 05:36:28,120 15 YEARS. HE ANSWERED 8673 05:36:28,120 --> 05:36:29,120 DISEASE PROBLEMS NOT DIAGNOSED AS A 8674 05:36:29,120 --> 05:36:32,840 GETTING TO KNOW UDM AS A PATIENT IN 2018 8675 05:36:32,840 --> 05:36:37,240 BY VISITING THE CLINICAL SITE. 8676 05:36:37,240 --> 05:36:40,120 OVER DIAGNOSTICS DOES NOT EXIST YET 8677 05:36:40,120 --> 05:36:42,480 MAKE HIM BELIEVE IN UDM 8678 05:36:42,480 --> 05:36:46,440 ABLE TO HELP HIM LIKE HE HAS A LOT 8679 05:36:46,440 --> 05:36:50,440 OTHER. OUR NEXT PANELIST IS 8680 05:36:50,440 --> 05:36:55,960 ERIKA. FROM TEXAS. SHE'S A FLOWER 8681 05:36:55,960 --> 05:37:00,240 SEVEN YEAR OLD DAUGHTER IS UND 8682 05:37:00,240 --> 05:37:05,080 PATIENTS AND DIAGNOSIS RANGE 8683 05:37:05,080 --> 05:37:09,160 NEUROGENETIC DISORDERS. WE'RE NEXT 8684 05:37:09,160 --> 05:37:11,200 PANELISTS ARE MONIQUE AND HER 8685 05:37:11,200 --> 05:37:13,920 PRINCESS VIVIANNE. BOTH ARE TERM 8686 05:37:13,920 --> 05:37:16,200 PATIENTS ARE DISEASED AND TREATED AT 8687 05:37:16,200 --> 05:37:20,920 NIH. THEY DIED THE MOST HICK 8688 05:37:20,920 --> 05:37:23,080 ODYSSEY IS A FAMILY STORY WHERE 8689 05:37:23,080 --> 05:37:26,400 A GENERATION IS FACING THE UNKNOWN 8690 05:37:26,400 --> 05:37:28,160 SO THE NEXT GENERATION CAN HAVE IT 8691 05:37:28,160 --> 05:37:33,040 A CHANCE FOR A NORMAL LIFE. 8692 05:37:33,040 --> 05:37:37,920 OUR NEXT PANELIST IS TERRENCE 8693 05:37:37,920 --> 05:37:38,640 AND TERRAN DAUGHTER FROM 8694 05:37:38,640 --> 05:37:42,360 SOUTH CAROLINA. TERRENCE IS 20 8695 05:37:42,360 --> 05:37:46,720 YEAR OF THE VETERAN WITH THE DEPARTMENT 8696 05:37:46,720 --> 05:37:49,720 SOUTH CAROLINA. HIS DAUGHTER 8697 05:37:49,720 --> 05:37:54,200 THE TERRAN HAVE COME TO 8698 05:37:54,200 --> 05:37:57,600 THIS IS SINCE 2014, DIAGNOSIS WITH 8699 05:37:57,600 --> 05:38:01,080 MESOTHELIOMA IN 2014 AND IT STARTED 8700 05:38:01,080 --> 05:38:06,640 CLINICAL TRIALS THERE IN 2015. 8701 05:38:06,640 --> 05:38:08,920 FINALLY, OUR LAST PANELIST DR. 8702 05:38:08,920 --> 05:38:12,400 ERIC SID FROM NATIONAL 8703 05:38:12,400 --> 05:38:13,960 TRANSLATION CENTER 8704 05:38:13,960 --> 05:38:15,000 NIH SCIENCE. HE IS A PROGRAM 8705 05:38:15,000 --> 05:38:17,080 RARE OFFICE OFFICER 8706 05:38:17,080 --> 05:38:19,920 DISEASE RESEARCH ALSO KNOWN AS 8707 05:38:19,920 --> 05:38:21,720 ODR, HE WILL SAVE US 8708 05:38:21,720 --> 05:38:36,040 SESSION. THANK YOU. 8709 05:38:36,040 --> 05:38:38,520 >> GOOD AFTERNOON. WELCOME TO 8710 05:38:38,520 --> 05:38:41,120 IT'S RARE DISEASES DAY. IN THIS 8711 05:38:41,120 --> 05:38:42,720 SESSION YOU WILL HEAR SOME 8712 05:38:42,720 --> 05:38:44,560 INTERESTING STORIES FROM PATIENTS 8713 05:38:44,560 --> 05:38:47,360 AND SUPERVISOR OF THEIR OWN 8714 05:38:47,360 --> 05:38:50,520 DIAGNOSTIC EXPOSURE. WHAT IS IT 8715 05:38:50,520 --> 05:38:54,720 DIAGNOSTIC EXPOSURE? FOR 8716 05:38:54,720 --> 05:38:55,640 OFFICIAL INFORMATION I 8717 05:38:55,640 --> 05:39:00,000 OFTEN SEE WEBSTER, WHO 8718 05:39:00,000 --> 05:39:01,320 DEFINE DIAGNOSIS AS ACTIVE 8719 05:39:01,320 --> 05:39:02,280 DISEASE IDENTIFICATION -- ACTION 8720 05:39:02,280 --> 05:39:03,960 IDENTIFYING THE DISEASE OR 8721 05:39:03,960 --> 05:39:07,960 PROBLEMS WITH CHECKING SOMEONE OR 8722 05:39:07,960 --> 05:39:10,000 SOMETHING. MAY BE CLINICAL 8723 05:39:10,000 --> 05:39:12,920 EVALUATION OR MAYBE LABORATORY 8724 05:39:12,920 --> 05:39:16,760 TESTS OR MANY SUCH EVALUATIONS 8725 05:39:16,760 --> 05:39:19,120 AND TEST. DIAGNOSIS IS A 8726 05:39:19,120 --> 05:39:21,120 THAT STATEMENT OR CONCLUSION 8727 05:39:21,120 --> 05:39:24,640 EXPLAIN THE CAUSES OF THE DISEASE 8728 05:39:24,640 --> 05:39:26,320 DISEASES OR PROBLEMS. THAT'S THE REASON 8729 05:39:26,320 --> 05:39:28,360 MAY HAVE A CLINICAL DESCRIPTION 8730 05:39:28,360 --> 05:39:30,480 BUT IN THE WORLD IT'S RARE 8731 05:39:30,480 --> 05:39:32,600 DISEASES, OFTEN ARE GENETIC 8732 05:39:32,600 --> 05:39:37,360 OR MOLECULAR DIAGNOSIS. ODYSSEY. 8733 05:39:37,360 --> 05:39:38,920 A FULL Wandering JOURNEY 8734 05:39:38,920 --> 05:39:40,680 ADVENTURE AND CHANGE 8735 05:39:40,680 --> 05:39:43,880 LUCK. WHAT THIS TRIP IS 8736 05:39:43,880 --> 05:39:46,520 WE WILL HEAR ABOUT THIS 8737 05:39:46,520 --> 05:39:48,320 AFTERNOON. I'LL ADD SOME OF THAT 8738 05:39:48,320 --> 05:39:51,400 PATIENTS IN US ARE NOT DIAGNOSED 8739 05:39:51,400 --> 05:39:52,520 NO COMPLAINTS DISEASE PROGRAM 8740 05:39:52,520 --> 05:39:55,520 THEY HAVE NO DIAGNOSIS, 8741 05:39:55,520 --> 05:39:57,320 BUT THERE ARE TOO MANY DIAGNOSES 8742 05:39:57,320 --> 05:39:59,000 AND NONE OF THEM FIT 8743 05:39:59,000 --> 05:40:03,720 SYMPTOMS. NOT DIAGNOSED 8744 05:40:03,720 --> 05:40:04,920 CONDITIONS AFFECTING AT LEAST 3 8745 05:40:04,920 --> 05:40:06,520 MILLION AMERICANS. AND IN 8746 05:40:06,520 --> 05:40:08,080 OUR UDP SHARE INTO FOUR 8747 05:40:08,080 --> 05:40:11,640 POTENTIAL CATEGORIES. IT 8748 05:40:11,640 --> 05:40:13,760 RARE AND DIFFICULT CONDITION 8749 05:40:13,760 --> 05:40:18,560 TO IDENTIFY, THIS REPRESENTS AN 8750 05:40:18,560 --> 05:40:20,160 MORE UNUSUAL PRESENTATIONS 8751 05:40:20,160 --> 05:40:21,720 GENERAL CONDITION. CONDITION 8752 05:40:21,720 --> 05:40:25,720 IT'S A MIXING OF MORE THAN ONE 8753 05:40:25,720 --> 05:40:30,040 DIAGNOSIS. OR THEIR CONDITION 8754 05:40:30,040 --> 05:40:31,680 ACTUALLY UNIQUE AND 8755 05:40:31,680 --> 05:40:36,200 DECLARES A NEW DISRUPTION. TO 8756 05:40:36,200 --> 05:40:37,440 THIS WAS A LOT OF DIFFICULT JOURNEY 8757 05:40:37,440 --> 05:40:41,320 VERY LONG. WITH AVERAGE LENGTH 8758 05:40:41,320 --> 05:40:44,960 EIGHT YEARS. ACCEPTANCE 8759 05:40:44,960 --> 05:40:48,720 A DIAGNOSIS CAN CHANGE A LIFE 8760 05:40:48,720 --> 05:40:51,600 IN SOME WAYS. DIAGNOSIS IS POSSIBLE 8761 05:40:51,600 --> 05:40:52,760 SOMETIMES IT OFFERS POSSIBILITIES 8762 05:40:52,760 --> 05:40:56,560 EXISTING TREATMENTS. EVEN IN 8763 05:40:56,560 --> 05:40:58,280 THERE IS NO DEFINITIVE TREATMENT 8764 05:40:58,280 --> 05:41:00,400 MAY PROVIDE THE POSSIBILITY TO 8765 05:41:00,400 --> 05:41:01,920 IMPROVE MANAGEMENT OR ACCESS TO 8766 05:41:01,920 --> 05:41:07,840 SERVICE. MOLECULAR OR GENETIC 8767 05:41:07,840 --> 05:41:09,280 A DIAGNOSIS CAN EXPOSE A FAMILY 8768 05:41:09,280 --> 05:41:11,200 PLANNING OPTIONS. POSSIBLE DIAGNOSIS 8769 05:41:11,200 --> 05:41:12,880 OFFERING THE OPPORTUNITY TO JOIN ADVOCACY 8770 05:41:12,880 --> 05:41:17,720 GROUP WITH OTHER PEOPLE. ANYONE 8771 05:41:17,720 --> 05:41:19,920 THE SAME IS WORN TOGETHER 8772 05:41:19,920 --> 05:41:21,400 SUPPORT OR INCREASE AWARENESS OR 8773 05:41:21,400 --> 05:41:25,240 FUNDING FOR NEW THERAPY. MOST 8774 05:41:25,240 --> 05:41:26,240 IMPORTANTLY, ALLOWING INDIVIDUALS 8775 05:41:26,240 --> 05:41:28,360 AND FAMILIES TO MOVE ON 8776 05:41:28,360 --> 05:41:32,920 THE NEXT PHASE IN THEIR BUSY LIVES. 8777 05:41:32,920 --> 05:41:34,680 SO IN THE RARE IF DISEASES SPACE 8778 05:41:34,680 --> 05:41:37,480 YOU ASKED ME WHAT MY NAME WAS 8779 05:41:37,480 --> 05:41:41,640 HAVE TO SAY EVERYTHING. 8780 05:41:41,640 --> 05:41:43,000 NOW I INVITE YOU TO LISTEN 8781 05:41:43,000 --> 05:41:48,720 SOME LONG TRAVEL STORIES 8782 05:41:48,720 --> 05:42:02,880 PATIENTS AND CARERS. 8783 05:42:02,880 --> 05:42:06,080 >> I AM TROY EVANS UNDIAGNOZED 8784 05:42:06,080 --> 05:42:09,640 MEN'S DISEASE OF UTAH, 8785 05:42:09,640 --> 05:42:10,720 DEVELOPMENT OF NEUROMUSCULAR DISEASES 8786 05:42:10,720 --> 05:42:12,520 AND THE KEYWORD STRUGGLE IS CROSS 8787 05:42:12,520 --> 05:42:15,120 I THINK MANY TIMES A DAY. I AM 8788 05:42:15,120 --> 05:42:16,560 AN UNDIAGNOZED JOURNEY IS NOT 8789 05:42:16,560 --> 05:42:21,000 DIFFERENT FROM MOST, IN 2018 AT 8790 05:42:21,000 --> 05:42:23,640 AGE 33, I HAVE THE OPPORTUNITY TO 8791 05:42:23,640 --> 05:42:26,480 SEEN BY DR. NELSON IS NOT DIAGNOSED 8792 05:42:26,480 --> 05:42:28,480 UCLA DISEASE NETWORK TEAM 8793 05:42:28,480 --> 05:42:30,840 CLINICAL SIDE OF UDN UNTIL DATE I 8794 05:42:30,840 --> 05:42:32,520 STILL UNDIAGNOSISED BUT I BELIEVE IT 8795 05:42:32,520 --> 05:42:37,000 THE DIAGNOSIS COMES. IT 8796 05:42:37,000 --> 05:42:39,320 TRAVEL BEFORE DIAGNOSIS 8797 05:42:39,320 --> 05:42:43,560 DISEASE NETWORK STARTED IN 2015 AT PT 8798 05:42:43,560 --> 05:42:47,520 AGE 21. WHEN I FIRST NOTICED 8799 05:42:47,520 --> 05:42:48,320 I HAVE GROWN SOMETHING DIFFERENT 8800 05:42:48,320 --> 05:42:50,600 RISE ATHLETIC AND EVERY HIT 8801 05:42:50,600 --> 05:42:52,520 MAJOR PHYSICAL MILESTONE, ME 8802 05:42:52,520 --> 05:42:54,320 REGULARLY GET SICK AND TAKE CARE OF 8803 05:42:54,320 --> 05:42:56,400 BE GOOD ENOUGH YOURSELF 8804 05:42:56,400 --> 05:42:57,960 PHYSICAL FORM. I PARTICIPATE 8805 05:42:57,960 --> 05:43:03,040 IN MANY ACTIVITIES AND SPORTS. 8806 05:43:03,040 --> 05:43:04,160 UNTIL AFTER TRAINING 8807 05:43:04,160 --> 05:43:06,920 RUNNING I WATCH MY LEG MUSCLES 8808 05:43:06,920 --> 05:43:08,640 IT'S SO HUGE AND HURT 8809 05:43:08,640 --> 05:43:10,720 LAST FOR IF OIDIAS AT THAT TIME 8810 05:43:10,720 --> 05:43:12,080 FINALLY WEAKER I WENT FOR A RUN 8811 05:43:12,080 --> 05:43:13,400 AGAIN AND AGAIN THE SAME 8812 05:43:13,400 --> 05:43:17,440 ILLNESS RESULTS. IN 2006 8813 05:43:17,440 --> 05:43:18,520 GET CONTINUOUS COMFORT 8814 05:43:18,520 --> 05:43:20,320 EARLY MUSCLE STAGE 8815 05:43:20,320 --> 05:43:22,720 WEAKNESS IN MY LEGS. I STARTED 8816 05:43:22,720 --> 05:43:24,720 FALLS WHEN I TRY TO SPRINT 8817 05:43:24,720 --> 05:43:26,400 AND FINALLY I BECAME UNABLE 8818 05:43:26,400 --> 05:43:29,400 TO STAND UP FROM A SQUART 8819 05:43:29,400 --> 05:43:31,280 UNAIDED POSITION. SO 8820 05:43:31,280 --> 05:43:32,320 IN 2007 I SAW MY GENERAL 8821 05:43:32,320 --> 05:43:35,520 FIRST TIME DOCTOR, 8822 05:43:35,520 --> 05:43:36,640 HALLIAN DAN BASIC BLOOD TEST 8823 05:43:36,640 --> 05:43:38,840 CALL ME BACK A FEW DAYS LATER 8824 05:43:38,840 --> 05:43:40,720 MY REFERENCE TO LOCAL 8825 05:43:40,720 --> 05:43:42,600 NEUROMUSCULAR SPECIALIST, 8826 05:43:42,600 --> 05:43:45,360 BECAUSE HE HAS THE ALARM ON HIGH 8827 05:43:45,360 --> 05:43:47,920 CK REPORT IN BLOOD TEST. 8828 05:43:47,920 --> 05:43:49,360 LITTLE DID I KNOW AT THAT TIME 8829 05:43:49,360 --> 05:43:51,720 THAT I STARTED THIS 8830 05:43:51,720 --> 05:43:54,760 THE ODYSSEY THAT WILL CHANGE ME 8831 05:43:54,760 --> 05:43:57,120 ALIVE. FEBRUARY 2007 ME 8832 05:43:57,120 --> 05:43:58,560 UNIVERSITY REFERENCES 8833 05:43:58,560 --> 05:44:01,800 UTAH FOR CLINICAL VISITS, WITH 8834 05:44:01,800 --> 05:44:03,720 SPECIFICALLY NEUROMUSCULAR OWN DR. 8835 05:44:03,720 --> 05:44:06,200 BROMBERG, THEY CONTINUE 8836 05:44:06,200 --> 05:44:08,200 ANNUAL UNTIL 2018. I DID IT 8837 05:44:08,200 --> 05:44:10,200 TARGETED GENETIC AMOUNT 8838 05:44:10,200 --> 05:44:12,200 TEST, THE FIRST OF FOUR EMGs 8839 05:44:12,200 --> 05:44:16,120 TESTS, MUSCLE BIOPSY AND 8840 05:44:16,120 --> 05:44:19,520 FINALLY LATER IN 2007 DR. 8841 05:44:19,520 --> 05:44:21,520 BROMBERG STARTED CALLING ME 8842 05:44:21,520 --> 05:44:23,920 INITIAL CONDITIONS FOR SMA 4 OR ADULT 8843 05:44:23,920 --> 05:44:25,920 BONE MUSCLE ATROPHY. THIS 8844 05:44:25,920 --> 05:44:27,600 EVEN IF TEST RESULTS ARE NORMAL FOR 8845 05:44:27,600 --> 05:44:31,280 MUTATIONS IN SMN 1 AND SMN 2 8846 05:44:31,280 --> 05:44:33,800 GENES. THUS THE PATTERN BEGINS 8847 05:44:33,800 --> 05:44:35,800 FULL GOOGLE SEARCH NIGHT WITH 8848 05:44:35,800 --> 05:44:38,240 BLESSINGS I ASKED TO SEE 8849 05:44:38,240 --> 05:44:39,240 OTHER SPECIALISTS IN 8850 05:44:39,240 --> 05:44:40,960 UNIVERSITY OF UTAH AND OTHERS 8851 05:44:40,960 --> 05:44:43,280 TIME TO MEET DR. FLANAGAN AND 8852 05:44:43,280 --> 05:44:46,120 Dr. ZABOTA B WE DO EXTRA 8853 05:44:46,120 --> 05:44:48,280 BLOOD TEST EMG TEST, THE 8854 05:44:48,280 --> 05:44:49,360 THEIR CONCLUSIONS 8855 05:44:49,360 --> 05:44:51,520 NOT AWARE OF OTHER POSSIBILITIES 8856 05:44:51,520 --> 05:44:52,920 DISEASE TESTS OR PROGRAMS THAT 8857 05:44:52,920 --> 05:44:55,600 CAN HELP WITH MY CASE. BE LIKE YOU 8858 05:44:55,600 --> 05:44:59,040 CAN YOU IMAGINE GOING BACK TO GOOGLE I 8859 05:44:59,040 --> 05:45:02,520 GO. YEAR 2011 BEGINS 8860 05:45:02,520 --> 05:45:03,520 CONVERSATION WITH DR. 8861 05:45:03,520 --> 05:45:05,280 (Inaudible) CEDARS SINAI IN LOS 8862 05:45:05,280 --> 05:45:07,240 ANGELES WAS SHOWN BY MY FATHER 8863 05:45:07,240 --> 05:45:09,920 I MET WITH HIM AND DR. LOUIS 8864 05:45:09,920 --> 05:45:12,080 WHERE THEY DO ANOTHER EMG 8865 05:45:12,080 --> 05:45:13,920 TEST AND LIKE THE SPECIALISTS ABOVE 8866 05:45:13,920 --> 05:45:16,440 THEIR UNIVERSITY OF UTAH 8867 05:45:16,440 --> 05:45:19,440 ALSO CONFUSED ABOUT THE POSSIBILITIES 8868 05:45:19,440 --> 05:45:22,960 DISEASE. THEY ARE ALSO INTRODUCED 8869 05:45:22,960 --> 05:45:25,120 I EXPLAIN A NEW WAY TO FACE 8870 05:45:25,120 --> 05:45:26,480 THAT GENETIC TEST 8871 05:45:26,480 --> 05:45:29,000 SUPERIOR OF THE TARGETED SMN 8872 05:45:29,000 --> 05:45:30,880 GENETIC TEST I 8873 05:45:30,880 --> 05:45:34,840 PREVIOUSLY DONE. SO AFTER PAYING 8874 05:45:34,840 --> 05:45:36,240 A VERY LARGE AMOUNT 8875 05:45:36,240 --> 05:45:40,920 MONEY AND WAITING TO THE TOP SIX 8876 05:45:40,920 --> 05:45:43,480 EIGHT MONTHS JENNIE 8877 05:45:43,480 --> 05:45:47,640 RESTORE MY ENTIRE EXOME SEQUENCING. 8878 05:45:47,640 --> 05:45:48,760 SCIENCE DEVELOPED AND SUCCESSFUL 8879 05:45:48,760 --> 05:45:51,520 MUCH MORE EFFICIENT. BUT 8880 05:45:51,520 --> 05:45:54,480 GENE REPORT SHOWS LITTLE 8881 05:45:54,480 --> 05:45:56,240 OR POSSIBLE VARIANTS BUT AFTER 8882 05:45:56,240 --> 05:45:57,120 NO FURTHER RESEARCH 8883 05:45:57,120 --> 05:45:58,600 THE RESULTS WILL BE ANY ADDITIONAL 8884 05:45:58,600 --> 05:46:00,240 INSIGHT SO GO BACK TO GOOGLE I 8885 05:46:00,240 --> 05:46:03,320 GO. THIS TYPE OF PROCESS 8886 05:46:03,320 --> 05:46:05,560 CONTINUES FOR SOME TIME. 8887 05:46:05,560 --> 05:46:08,240 OVERALL AND CLINICAL TRIALS 8888 05:46:08,240 --> 05:46:10,560 THE VISIT BROUGHT AN ERROR DIAGNOSIS AS 8889 05:46:10,560 --> 05:46:13,600 KSA -- DAY SACKS, BONE BONES 8890 05:46:13,600 --> 05:46:16,240 MUSCLE ATROPHY, LYNN GIRDLE 8891 05:46:16,240 --> 05:46:18,760 MUSCLE DYSTROPHY, SUCH. 8892 05:46:18,760 --> 05:46:20,040 TODAY I CAN STILL WALK TOGETHER 8893 05:46:20,040 --> 05:46:21,720 THE ABNORMAL GATE THAT LOCKS ME 8894 05:46:21,720 --> 05:46:22,920 KNEES, WITHOUT MY HELP 8895 05:46:22,920 --> 05:46:24,080 UNABLE TO STAND FROM THE CHAIR 8896 05:46:24,080 --> 05:46:27,080 OR WALK UP. TRENDS OR 8897 05:46:27,080 --> 05:46:29,840 EVEN THE SURFACE IS UNEVEN. THAT DAY 8898 05:46:29,840 --> 05:46:32,080 PLAY SPORTS AND WALK 8899 05:46:32,080 --> 05:46:33,600 AND THE MOTORCYCLE RACING IS OVER 8900 05:46:33,600 --> 05:46:39,520 FOR NOW. AND THE DIFFERENCE 8901 05:46:39,520 --> 05:46:40,640 TODAY EVEN FOREVER 8902 05:46:40,640 --> 05:46:41,800 STATUS REMAINS THE SAME 8903 05:46:41,800 --> 05:46:47,640 DID WHEN I STARTED THIS IN 2006, 8904 05:46:47,640 --> 05:46:48,680 IT IS A FEELING OF PRESSURE ON 8905 05:46:48,680 --> 05:46:53,200 CONTINUE LOOKING FOR NEW TESTS 8906 05:46:53,200 --> 05:46:54,920 NEW SPECIALISTS OR DISCOVERIES 8907 05:46:54,920 --> 05:46:58,680 WHAT I FELT BEFORE ACCEPTING 8908 05:46:58,680 --> 05:46:59,360 A TISSUE OF UNDIAGNOZED DISEASES IS 8909 05:46:59,360 --> 05:47:03,560 GO. I BELIEVE IN UDN 8910 05:47:03,560 --> 05:47:07,560 AND THE TEAM THAT WAS FORMED 8911 05:47:07,560 --> 05:47:11,560 IN UDN TO SUPPORT PEOPLE 8912 05:47:11,560 --> 05:47:12,560 LIKE THIS NEE IS UNDIAGNOSIZED 8913 05:47:12,560 --> 05:47:14,200 THE DISEASE'S JOURNEY AND I'M CONFIDENT 8914 05:47:14,200 --> 05:47:15,840 THE DIAGNOSIS WILL COME 8915 05:47:15,840 --> 05:47:30,920 THANK YOU FOR UDM'S HELP. 8916 05:47:30,920 --> 05:47:32,720 >> PI I'M ERIKA COX, AVA'S MOTHER. 8917 05:47:32,720 --> 05:47:36,360 AVA IS A PARTICIPANT OF UDN AND 8918 05:47:36,360 --> 05:47:39,720 THE HERO'S JOURNEY ENDED IN MARCH 8919 05:47:39,720 --> 05:47:43,080 26, 2019. AVA DIAGNOSED WITH 8920 05:47:43,080 --> 05:47:44,720 NEW CDCK ASSOCIATION CONDITIONS 8921 05:47:44,720 --> 05:47:47,520 GENETIC DISORDERS 8922 05:47:47,520 --> 05:47:51,160 DISCOVERED IN 2016. TVCK IS A 8923 05:47:51,160 --> 05:47:54,520 RARE NEUROGENETIC DISORDERS, THE 8924 05:47:54,520 --> 05:47:56,560 THE DISEASE IS AUTOSOMALY RECESSIVE, 8925 05:47:56,560 --> 05:47:59,600 MEANING BOTH PARENTS MUST 8926 05:47:59,600 --> 05:48:01,960 TAKE THE SAME PATIENT FOR TDCK. 8927 05:48:01,960 --> 05:48:03,240 THERE ARE VARIANTS IN IT 8928 05:48:03,240 --> 05:48:04,800 DISEASES THAT CAUSE THE SPECTRUM 8929 05:48:04,800 --> 05:48:08,400 SYMPTOMS AND CONDITIONS. LIKE 8930 05:48:08,400 --> 05:48:11,520 THERE ARE MANY DIFFERENT DISEASES 8931 05:48:11,520 --> 05:48:13,960 ABOUT THE CONDITION AND ITS SEVERITY 8932 05:48:13,960 --> 05:48:17,000 IMPACT OF TDCK. IN GENERAL 8933 05:48:17,000 --> 05:48:19,720 MAIN CONDITIONS ASSOCIATED WITH 8934 05:48:19,720 --> 05:48:22,280 HYPERTONEIA, LOW MUSCLE TONE, 8935 05:48:22,280 --> 05:48:23,480 EPILEPSY AND INTELLECTUALITY 8936 05:48:23,480 --> 05:48:25,480 DISABLED. THE NEW DISEASE IS 8937 05:48:25,480 --> 05:48:27,280 IT'S ALSO VERY NEW THAT MORE RESEARCH IS AVAILABLE 8938 05:48:27,280 --> 05:48:28,920 NEEDED TO GET 8939 05:48:28,920 --> 05:48:31,240 UNDERSTANDING SYMPTOMS. 8940 05:48:31,240 --> 05:48:33,280 BECAUSE EVERY CHILD IS DIAGNOSED WITH 8941 05:48:33,280 --> 05:48:36,160 TBCK SHOWS OFF DIFFERENT THINGS 8942 05:48:36,160 --> 05:48:38,960 EVEN THOUGH PHYSICALLY THEY LOOK 8943 05:48:38,960 --> 05:48:39,960 THE SAME, THEY HAVE DIFFERENT 8944 05:48:39,960 --> 05:48:52,280 SKILL SET, SO THERE IS A 8945 05:48:52,280 --> 05:48:55,880 ONGOING RESEARCH FOUNDATION 8946 05:48:55,880 --> 05:48:56,520 PHILADELPHIA CHILDREN'S HOSPITAL 8947 05:48:56,520 --> 05:48:58,640 AND HE HAS MORE THAN 100 FRIENDS 8948 05:48:58,640 --> 05:49:00,040 THE WHOLE WORLD IS THE SAME WITH HIM 8949 05:49:00,040 --> 05:49:05,760 DIAGNOSIS. HE METASTASES YOU 8950 05:49:05,760 --> 05:49:08,520 DIAGNOSIS STARTED IN 2014. HE 8951 05:49:08,520 --> 05:49:10,120 KEEP THE HEAD AND NECK UPWARDED 8952 05:49:10,120 --> 05:49:12,200 ONE SIDE IS THEN CALLED OR I 8953 05:49:12,200 --> 05:49:27,920 STUDY THEN MENTIONED (INAUDIBLE) 8954 05:49:27,920 --> 05:49:31,320 THE STITCHES IN HIS BRAIN OPEN 8955 05:49:31,320 --> 05:49:32,760 WHEN IT COMES TO CLOSED WHEN IT SHOULD BE 8956 05:49:32,760 --> 05:49:38,400 STILL OPEN. 8957 05:49:38,400 --> 05:49:40,400 (UNSEEN) HIS HEAD 8958 05:49:40,400 --> 05:49:42,080 FAILED AND DUE TO STITCHING 8959 05:49:42,080 --> 05:49:44,520 CLOSED WOULD CAUSE HIS HEAD 8960 05:49:44,520 --> 05:49:47,160 BE DIAGONAL IF HE DON'T DO IT 8961 05:49:47,160 --> 05:49:49,160 PERFORMING SURGERY TO OPEN THE STITCHES 8962 05:49:49,160 --> 05:49:51,320 WEAR A MEDICAL HELMET FOR 8963 05:49:51,320 --> 05:49:53,560 REFORMING HIS HEAD. I HAVE BEEN TOLD 8964 05:49:53,560 --> 05:49:56,480 IT'S NOT AMAZING BECAUSE OF HIM 8965 05:49:56,480 --> 05:49:58,240 breech. HE DIDN'T REACH 8966 05:49:58,240 --> 05:49:59,160 MILESTONE EVEN THOUGH PHYSICAL 8967 05:49:59,160 --> 05:50:00,520 THERAPY. THAT is what O looks like 8968 05:50:00,520 --> 05:50:01,760 VISIT SEVERAL DOCTORS NEARBY 8969 05:50:01,760 --> 05:50:03,320 COUNTRY, TRYING TO FIND 8970 05:50:03,320 --> 05:50:08,600 WHAT'S WRONG WITH ASIA ASIA. 8971 05:50:08,600 --> 05:50:10,720 BECAUSE IT DOESN'T GIVE AN ANSWER 8972 05:50:10,720 --> 05:50:15,120 BECAUSE TBCK WAS NOT FOUND 8973 05:50:15,120 --> 05:50:32,640 UNTIL 2016. THAT'S WRONG 8974 05:50:32,640 --> 05:50:34,800 STATEMENTS GIVE US FALSE HOPE 8975 05:50:34,800 --> 05:50:37,320 ABOUT AVA AND HER FUTURE 8976 05:50:37,320 --> 05:50:38,080 REACHING THE MILESTONE WAITS 8977 05:50:38,080 --> 05:50:41,840 TO. AFTER COUNTABLE 8978 05:50:41,840 --> 05:50:44,840 PROMISE AND SOME SNAKE OIL 8979 05:50:44,840 --> 05:50:47,160 SALESMEN PRAY FOR US 8980 05:50:47,160 --> 05:50:48,480 VULNERABILITY FOR ANSWER I 8981 05:50:48,480 --> 05:50:51,520 LEADED TO UDM THROUGH A POST ON 8982 05:50:51,520 --> 05:50:53,560 MY FACEBOOK GROUP IS PART OF IT 8983 05:50:53,560 --> 05:50:55,520 BECAUSE THEY HAVE THE SAME 8984 05:50:55,520 --> 05:50:58,000 AVA SYMPTOMS. THE DIAGNOSIS 8985 05:50:58,000 --> 05:50:59,840 EVEN RARE LIKE I SAID 8986 05:50:59,840 --> 05:51:01,040 BECAUSE IT MUST BE TWO PARENTS 8987 05:51:01,040 --> 05:51:04,600 HOST FOR HAVING TBCK CHILDREN 8988 05:51:04,600 --> 05:51:06,040 AND THAT'S NOT OUR CASE 8989 05:51:06,040 --> 05:51:08,960 CREATING THE MEDICAL TERM DE NOVO. 8990 05:51:08,960 --> 05:51:11,960 AND OUR ULTRA RARE TDCK DEVICE 8991 05:51:11,960 --> 05:51:14,000 YOU. HE HAS A BIG SMILE AND 8992 05:51:14,000 --> 05:51:16,120 CONTAGIOUS LAUGHTER. RIGHT NOW HE 8993 05:51:16,120 --> 05:51:18,200 WALKING WITH HELP, AND HE WAS 8994 05:51:18,200 --> 05:51:19,880 RUNNING ON A TREADMILL, HE 8995 05:51:19,880 --> 05:51:21,880 LONGEST TIME UNTIL DATE IS 11 8996 05:51:21,880 --> 05:51:22,920 VERY BIG MINUTE 8997 05:51:22,920 --> 05:51:28,720 ACHIEVEMENTS. AVA IS 8998 05:51:28,720 --> 05:51:31,040 NON-VERBAL BUT VERY LOUD. THAT 8999 05:51:31,040 --> 05:51:32,520 THE HARDEST NON-VERBAL CHILD EVER. 9000 05:51:32,520 --> 05:51:34,320 HE IS IN SPEECH THERAPY AND WE ARE 9001 05:51:34,320 --> 05:51:35,440 BE CONFIDENT WITH MEDICAL 9002 05:51:35,440 --> 05:51:37,920 NOT FACE AND RESEARCH HE WOULD 9003 05:51:37,920 --> 05:51:39,320 WALK AND TALK ONE DAY IN 9004 05:51:39,320 --> 05:51:49,760 NEAR FUTURE. 9005 05:51:49,760 --> 05:51:51,760 >> HEY ALL MY NAME 9006 05:51:51,760 --> 05:51:53,360 MONIQUE AND MY NAME IS VIVIAN. 9007 05:51:53,360 --> 05:51:58,120 >> WE WERE DIAGNOSED WITH 9008 05:51:58,120 --> 05:51:58,560 (INAUDIBLE) CLOSE. 9009 05:51:58,560 --> 05:52:02,800 >> CTLA 4 IS HAPPENING PLEASE 9010 05:52:02,800 --> 05:52:03,720 INSUFFICIENCY, AND WE ARE THERE 9011 05:52:03,720 --> 05:52:06,160 DIAGNOSED IN 2014 AND THAT 9012 05:52:06,160 --> 05:52:07,920 IT'S IMPORTANT BECAUSE OF THAT 9013 05:52:07,920 --> 05:52:11,360 THE FIRST YEAR THAT THERE WAS A DOCTOR 9014 05:52:11,360 --> 05:52:12,520 EXPLAINED, THAT'S DR. SOME AN 9015 05:52:12,520 --> 05:52:13,720 COLLEAGUES AT THAT TIME AND 9016 05:52:13,720 --> 05:52:15,080 I THINK IT'S VERY IMPORTANT FOR US 9017 05:52:15,080 --> 05:52:18,720 DIAGNOSED THAT YEAR BECAUSE 9018 05:52:18,720 --> 05:52:22,280 LIKE I BRING A LOT OF HOPE TO ME 9019 05:52:22,280 --> 05:52:23,160 THE JOURNEY OF A TEACHED EAR PRINCESS. 9020 05:52:23,160 --> 05:52:25,200 BASICALLY EVERYONE HAS A CTLA 4 9021 05:52:25,200 --> 05:52:27,560 GENE AND IT MAKE CTLA 4 9022 05:52:27,560 --> 05:52:29,720 PROTEINS. THIS PROSTEEN IS SUPER 9023 05:52:29,720 --> 05:52:31,840 IMPORTANT IN YOUR IMMUNITY 9024 05:52:31,840 --> 05:52:34,160 THIS SYSTEM IS BRAKES 9025 05:52:34,160 --> 05:52:34,840 FOR YOU. 9026 05:52:34,840 --> 05:52:35,600 IMMUNOSYSTEM, AND WE DO NOT MAKE IT 9027 05:52:35,600 --> 05:52:36,920 PROTEIN IS OUR IMMUNITY 9028 05:52:36,920 --> 05:52:39,000 SYSTEM IS IN ALL OVERDRIVE 9029 05:52:39,000 --> 05:52:40,080 TIME AND I KNOW IT SOUNDS LIKE 9030 05:52:40,080 --> 05:52:42,120 SUCH A GOOD THING OH MAN YOU 9031 05:52:42,120 --> 05:52:44,400 NEVER GET SICK BECAUSE OF YOU 9032 05:52:44,400 --> 05:52:45,840 THE IMMUNE SYSTEM IS WORKING 9033 05:52:45,840 --> 05:52:48,840 BUT TO BE HONEST THAT'S FAR FROM 9034 05:52:48,840 --> 05:52:49,720 TRUTH. EXCUSE ME. 9035 05:52:49,720 --> 05:52:51,800 >> THIS IS ACTUALLY A BIG DEAL 9036 05:52:51,800 --> 05:52:55,240 PROBLEMS AND PARTICULARS 9037 05:52:55,240 --> 05:52:58,000 AUTOIMMUNE PROBLEMS. I HAVE ASKED DR. 9038 05:52:58,000 --> 05:53:00,560 (INAUDIBLE) THE LAST TIME WAS ABOUT TWO 9039 05:53:00,560 --> 05:53:01,720 LAST WEEK HOW MANY AROUND THE WORLD 9040 05:53:01,720 --> 05:53:03,600 HAVING THIS DISEASE IS VERY RARE 9041 05:53:03,600 --> 05:53:05,600 THAT AND HE TOLD ME JUST THAT 9042 05:53:05,600 --> 05:53:07,680 ABOUT 500 PEOPLE ARE DIAGNOSED 9043 05:53:07,680 --> 05:53:09,120 GLOBALLY WITH THIS DISEASE SO ME 9044 05:53:09,120 --> 05:53:10,760 VERY SHOCKED TO HEAR THAT 9045 05:53:10,760 --> 05:53:13,000 HOW RARE WE ARE, I DON'T 9046 05:53:13,000 --> 05:53:13,920 OUR BELIEFS ARE VERY RARE 9047 05:53:13,920 --> 05:53:15,720 BECAUSE IT'S A GENETIC THING. 9048 05:53:15,720 --> 05:53:16,960 SO IT'S A GENETIC THING 9049 05:53:16,960 --> 05:53:19,720 MEANS YOU CAN PASS 9050 05:53:19,720 --> 05:53:21,640 FROM GENERATION TO GENERATION 9051 05:53:21,640 --> 05:53:23,880 AND THEREFORE, WE 9052 05:53:23,880 --> 05:53:25,480 AN ODYSSEY DIAGNOSIS INVOLVES A LOT 9053 05:53:25,480 --> 05:53:28,360 OUR FAMILY. AND OUR EXTENSION 9054 05:53:28,360 --> 05:53:30,320 THE FAMILY I ATTEND MANY 9055 05:53:30,320 --> 05:53:32,000 THE CEMETERY GROUP FOR US 9056 05:53:32,000 --> 05:53:33,560 FAMILY MEMBERS AND LOOKING BACK 9057 05:53:33,560 --> 05:53:35,160 ON IT NOW THROUGH THE LENS 9058 05:53:35,160 --> 05:53:36,720 THAT WE NOW KNOW WHAT WE ARE 9059 05:53:36,720 --> 05:53:38,760 YOU KNOW NOW, WE REALIZE A LOT 9060 05:53:38,760 --> 05:53:42,200 FROM THAT DEATH CAN OCCUR 9061 05:53:42,200 --> 05:53:44,000 CTLA 4 RELATED. FOR IMMEDIATELY ME 9062 05:53:44,000 --> 05:53:46,920 MY MOTHER'S FAMILY, MY SISTER AND ME 9063 05:53:46,920 --> 05:53:50,520 ALL POSITIVE FOR CTLA 4 9064 05:53:50,520 --> 05:53:52,240 LACKY BUT HONEST 9065 05:53:52,240 --> 05:53:54,040 OUR ENTIRE ODYSSEY 9066 05:53:54,040 --> 05:53:56,560 OUR ODYSSEY DIAGNOSIS IS NOT 9067 05:53:56,560 --> 05:53:57,800 BE AWARE THAT THERE IS 9068 05:53:57,800 --> 05:53:58,840 FALSE BASIC PROBLEM 9069 05:53:58,840 --> 05:54:01,520 WITH US. WE WERE NOT AWARE OF THAT 9070 05:54:01,520 --> 05:54:03,360 WE ARE MEDICALLY WEIRD OR WHAT 9071 05:54:03,360 --> 05:54:05,400 WE CANNOT BE DIAGNOSED OR US 9072 05:54:05,400 --> 05:54:07,520 VERY TERM AT ALL. AND THERE IS 9073 05:54:07,520 --> 05:54:10,040 TWO REASONS FOR THIS, NUMBER ONE 9074 05:54:10,040 --> 05:54:11,720 BECAUSE THIS DISEASE IS PLAYING 9075 05:54:11,720 --> 05:54:13,720 DIRTY, BECAUSE IT MAKES YOU FEEL 9076 05:54:13,720 --> 05:54:16,200 AS YOU ARE DIAGNOSED. WE 9077 05:54:16,200 --> 05:54:17,480 IT WILL BE ILL, WE WILL GO 9078 05:54:17,480 --> 05:54:19,560 DOCTOR, WE WILL BE 9079 05:54:19,560 --> 05:54:20,920 DIAGNOSED WITH AUTOIMMUNE 9080 05:54:20,920 --> 05:54:22,040 DISEASE AND THEN WE WILL 9081 05:54:22,040 --> 05:54:27,120 RECEIVE TREATMENT FOR THEM. IT 9082 05:54:27,120 --> 05:54:29,120 ANOTHER REASON WE DON'T 9083 05:54:29,120 --> 05:54:30,720 REALLY -- WE WEREN'T AWARE 9084 05:54:30,720 --> 05:54:32,320 PAIN FROM EACH OF THEM 9085 05:54:32,320 --> 05:54:34,560 WE HAVE OUR OWN LITTLE UNIQUE 9086 05:54:34,560 --> 05:54:36,960 OUR OWN UNIQUE AUTOIMMUNE PROBLEMS 9087 05:54:36,960 --> 05:54:38,520 A MIXTURE OF AUTOIMMUNE ISSUES WE HAVE 9088 05:54:38,520 --> 05:54:39,920 FACING. NOTHING IS THE SAME 9089 05:54:39,920 --> 05:54:41,840 OUR PROBLEM HAPPENED TO THE SAME THING 9090 05:54:41,840 --> 05:54:45,760 TIME AND SO WE THOUGHT THAT WE WERE 9091 05:54:45,760 --> 05:54:47,640 VERY LUCKY WE HAVE AUTOIMMUNE 9092 05:54:47,640 --> 05:54:48,840 PROBLEMS BUT JUST WALK IN 9093 05:54:48,840 --> 05:54:52,600 FAMILY. THERE IS NO CAUSE 9094 05:54:52,600 --> 05:54:54,040 IT, IT JUST WALK INSIDE 9095 05:54:54,040 --> 05:54:56,480 FAMILY. NOW, MAKE NO WRONG, 9096 05:54:56,480 --> 05:54:58,120 WE'VE BEEN HARD TIMES, WE HAVE 9097 05:54:58,120 --> 05:55:00,280 IN AND OUT OF THE HOSPITAL, AND IN 9098 05:55:00,280 --> 05:55:02,320 AND FROM ER, THERE IS 9099 05:55:02,320 --> 05:55:03,840 SOME AUTOIMMUNE PROBLEMS ARE 9100 05:55:03,840 --> 05:55:05,840 MUCH LONGER THAN OTHERS AND US 9101 05:55:05,840 --> 05:55:09,720 -- IT TAKES US A LONG TIME 9102 05:55:09,720 --> 05:55:11,320 DIAGNOSE OR GET DIAGNOSED 9103 05:55:11,320 --> 05:55:12,720 FOR SOME PROBLEMS BUT FOR ALL 9104 05:55:12,720 --> 05:55:14,520 THE ODYSSEY THAT WE DIDN'T HAVE 9105 05:55:14,520 --> 05:55:16,120 DIAGNOSE AND WE ACCEPT 9106 05:55:16,120 --> 05:55:17,920 TREATMENT. SO WE DON'T THINK 9107 05:55:17,920 --> 05:55:19,680 WHAT WE SHOULD BE LOOKING FOR 9108 05:55:19,680 --> 05:55:22,320 WHAT ELSE. SO JUST TO GIVE 9109 05:55:22,320 --> 05:55:26,920 YOU UNDERSTAND HOW WE ARE NOT RELATED 9110 05:55:26,920 --> 05:55:28,600 IT IS, HOW UNCONNECTED WE ALL ARE 9111 05:55:28,600 --> 05:55:31,160 THE DISEASE IS MY MOTHER AND ME 9112 05:55:31,160 --> 05:55:32,600 SISTER HAS THREE DISEASES, 9113 05:55:32,600 --> 05:55:34,520 THREE AUTOIMMUNE PROBLEMS 9114 05:55:34,520 --> 05:55:35,720 THE SAME AND THE REST 9115 05:55:35,720 --> 05:55:37,720 DIFFERENT. MY MOTHER HAS 15 9116 05:55:37,720 --> 05:55:39,640 MY SISTER'S AUTOIMMUNE PROBLEMS 9117 05:55:39,640 --> 05:55:41,920 14 AUTOIMMUNE PROBLEMS. BUT ONLY 9118 05:55:41,920 --> 05:55:46,800 THREE OF THEM WERE CUTS. i 9119 05:55:46,800 --> 05:55:49,280 PERSONALLY CONSIDERED 9120 05:55:49,280 --> 05:55:53,120 Asymptomatic to Having CTLA 4 9121 05:55:53,120 --> 05:55:55,600 DISADVANTAGE, ONLY I HAVE 9122 05:55:55,600 --> 05:56:00,840 HYPOTHIC THYROIDISM, I HAVE 9123 05:56:00,840 --> 05:56:02,080 PSORIASIS AND ECZEMA. 9124 05:56:02,080 --> 05:56:04,440 >> I HAVE HYPOTHYROIDISM AND 9125 05:56:04,440 --> 05:56:05,360 TUBE 1 DIABETES. SO 9126 05:56:05,360 --> 05:56:08,480 >> SO HE HAS TWO AUTOIMMUNE 9127 05:56:08,480 --> 05:56:09,000 DISEASE. 9128 05:56:09,000 --> 05:56:11,520 >> THANK YOU. THAT'S IT 9129 05:56:11,520 --> 05:56:13,680 BECAUSE OF MY BROTHER 9130 05:56:13,680 --> 05:56:14,320 AND NOER THIS IS THEIR GENERATION 9131 05:56:14,320 --> 05:56:16,200 FINDING A DIAGNOSIS. SO AFTER 9132 05:56:16,200 --> 05:56:18,240 YEARS OF DISEASE FOR MY BROTHER 9133 05:56:18,240 --> 05:56:21,920 AND MOTHER AND THEN GET IT ALL 9134 05:56:21,920 --> 05:56:24,800 THIS AUTOIMMUNE DIAGNOSIS, 9135 05:56:24,800 --> 05:56:26,520 MY BROTHER FINALLY DEVELOPED ONE 9136 05:56:26,520 --> 05:56:28,480 THINGS THEY DON'T KNOW WHAT 9137 05:56:28,480 --> 05:56:31,240 THAT. AND THAT'S WHAT IT IS 9138 05:56:31,240 --> 05:56:32,760 FINALLY IT'S BEEN FOR US TO KNOW 9139 05:56:32,760 --> 05:56:34,760 WHY DO WE HAVE SO MUCH AUTOIMMUNE 9140 05:56:34,760 --> 05:56:37,240 PROBLEM. HE DEVELOPED ALL THE LESIONS 9141 05:56:37,240 --> 05:56:39,720 IN HIS BRAIN AND EVERYTHING 9142 05:56:39,720 --> 05:56:41,600 BONES BONE BONES AND DOCTORS HAVE 9143 05:56:41,600 --> 05:56:44,040 THERE IS ABSOLUTELY NO ANSWER FOR US. 9144 05:56:44,040 --> 05:56:47,000 THEY SENT HIM TO MD ANDERSON, HE 9145 05:56:47,000 --> 05:56:48,720 RECEIVED CHEMO THERE AND HE WAS 9146 05:56:48,720 --> 05:56:49,800 GETTING SOME TREATMENT IN 9147 05:56:49,800 --> 05:56:55,200 VA HOSPITAL IN HOUSTON BUT 9148 05:56:55,200 --> 05:56:57,320 THEY HAVE NO ANSWERS AND WE DO 9149 05:56:57,320 --> 05:56:58,960 HAVE BEEN LOOKING FOR ABOUT A YEAR 9150 05:56:58,960 --> 05:57:00,640 THIS POINT AND HE GOES DOWN 9151 05:57:00,640 --> 05:57:03,080 HURRY UP, HE'S IN THE VA, HE IS 9152 05:57:03,080 --> 05:57:06,120 ALREADY IN HOSPITAL, THEY USE HIM 9153 05:57:06,120 --> 05:57:08,200 COMFORT MEDICINE IS VERY AWAITING 9154 05:57:08,200 --> 05:57:10,200 FOR HE DIED AND THEM 9155 05:57:10,200 --> 05:57:12,120 DECIDED TO DO A BIOPSY ON ONE 9156 05:57:12,120 --> 05:57:13,520 LESIONS ON HIS BRAIN. SO 9157 05:57:13,520 --> 05:57:16,360 THEY DID A BIOPSY, THEY DID A BIOPSY 9158 05:57:16,360 --> 05:57:18,600 HE SLIDES AND SENDS HIM OUT 9159 05:57:18,600 --> 05:57:19,760 ALL OVER AMERICA UNTIL 9160 05:57:19,760 --> 05:57:21,800 DIFFERENT RESEARCH HOSPITALS TO 9161 05:57:21,800 --> 05:57:24,800 TRY TO GET ANSWERS FROM US 9162 05:57:24,800 --> 05:57:27,440 VERY desperate. WE HAVE THAT HOPE 9163 05:57:27,440 --> 05:57:28,720 SOMEONE ANYWHERE WILL 9164 05:57:28,720 --> 05:57:30,360 Get to know WHAT THIS IS BUT 9165 05:57:30,360 --> 05:57:31,960 UNFORTUNATELY WHEN THE ANSWER WAS 9166 05:57:31,960 --> 05:57:33,720 BACK, NO ONE KNOWS WHAT IT IS 9167 05:57:33,720 --> 05:57:41,240 AT ALL. WE ARE LEFT WITH NO 9168 05:57:41,240 --> 05:57:43,920 ANSWER. RANDOM LAB TECHNOLOGY SAYS 9169 05:57:43,920 --> 05:57:45,920 WE DON'T TRY IT LET'S SEND IT 9170 05:57:45,920 --> 05:57:47,600 WILL. SO THEY SENT SAMPLES 9171 05:57:47,600 --> 05:57:50,760 WHERE AND HOW TO GET TO THEM 9172 05:57:50,760 --> 05:57:51,840 DEPARTMENT OF IMMUNOLOGY AND THEM 9173 05:57:51,840 --> 05:57:53,280 AS YOU KNOW WE THINK WE ARE 9174 05:57:53,280 --> 05:57:54,720 THERE IS AN ANSWER FOR YOU, COME ON 9175 05:57:54,720 --> 05:57:56,240 RUN A BLOOD TEST AND THEY WALKED 9176 05:57:56,240 --> 05:58:01,200 BLOOD TEST, HE WAS POSITIVE 9177 05:58:01,200 --> 05:58:04,400 CTLA Deficiency 4. HE IS IN 9178 05:58:04,400 --> 05:58:05,680 VERY BAD FORM AT THAT POINT 9179 05:58:05,680 --> 05:58:07,760 BUT MY PARENTS ARE ABLE 9180 05:58:07,760 --> 05:58:10,520 TO GET MY BROTHER OUT OF 9181 05:58:10,520 --> 05:58:12,520 HOSPITAL AND FLIGHT FROM TEXAS 9182 05:58:12,520 --> 05:58:15,680 TO BETHESDA AND HE STARTED 9183 05:58:15,680 --> 05:58:18,160 LONG ROAD TO RECOVERY. THAT'S IT 9184 05:58:18,160 --> 05:58:21,320 A VERY LONG TIME BEFORE HIM 9185 05:58:21,320 --> 05:58:23,000 OKAY BUT THEY SAVED HIS LIFE 9186 05:58:23,000 --> 05:58:24,120 WITH THE CARE THEY GIVE 9187 05:58:24,120 --> 05:58:26,120 HE. SO WHO'S CHARLIE AND MY MOTHER 9188 05:58:26,120 --> 05:58:27,680 IT IS THE MOST SICK OF US 9189 05:58:27,680 --> 05:58:29,480 FAMILY, OUR IMMEDIATE FAMILY, 9190 05:58:29,480 --> 05:58:31,680 HELP US FOR OUR DIAGNOSIS. AND 9191 05:58:31,680 --> 05:58:33,600 THAT OPENS UP A WHOLE NEW WORLD 9192 05:58:33,600 --> 05:58:35,720 FOR OUR FAMILY. AND IT'S TIME 9193 05:58:35,720 --> 05:58:37,960 MY DAUGHTER'S STORY BEGINS. 9194 05:58:37,960 --> 05:58:40,440 HE STARTED AFTER THE DIAGNOSIS ON 9195 05:58:40,440 --> 05:58:41,920 2014, HOW OLD WERE YOU WHEN WE 9196 05:58:41,920 --> 05:58:47,520 DIAGNOSIS? DO YOU REMEMBER? 9197 05:58:47,520 --> 05:58:48,120 >> 3. 9198 05:58:48,120 --> 05:58:51,240 >> YOU THREE. AND US 9199 05:58:51,240 --> 05:58:52,680 STARTING -- WE ARE ADDED TO 9200 05:58:52,680 --> 05:58:55,120 RESEARCH PROTOCOLS AT NIH 9201 05:58:55,120 --> 05:58:57,880 AND WE WILL GO ANNUAL TO CHECK 9202 05:58:57,880 --> 05:59:00,000 UPS BECAUSE WE ARE Asymptomatic 9203 05:59:00,000 --> 05:59:02,120 NO DEVELOPMENT IN 9204 05:59:02,120 --> 05:59:04,120 SICKNESS AND WHAT HAPPENS, DEAR? 9205 05:59:04,120 --> 05:59:07,280 >> WHEN I WAS SIX, THEY WERE DIAGNOSED 9206 05:59:07,280 --> 05:59:14,520 I AM WITH HYPOTING AND THYROIDISM 9207 05:59:14,520 --> 05:59:15,800 WHEN IT WAS SEVEN THEY FOUND ME ALREADY 9208 05:59:15,800 --> 05:59:16,480 DIABETES. 9209 05:59:16,480 --> 05:59:18,480 >> WHAT TYPE OF DIABETES? 9210 05:59:18,480 --> 05:59:19,680 >> 1. 9211 05:59:19,680 --> 05:59:22,120 >> TYPE 1 DIABETES. SO HE HAS IT 9212 05:59:22,120 --> 05:59:25,000 STARTS DEVELOPING AUTOIMMUNE 9213 05:59:25,000 --> 05:59:27,880 PROBLEMS AND THEY CAUGHT HER TYPE 9214 05:59:27,880 --> 05:59:30,040 1 QUITE EARLY IN THEIR DIABETES 9215 05:59:30,040 --> 05:59:32,960 START TREATMENT IMMEDIATELY ON 9216 05:59:32,960 --> 05:59:34,200 STOP DEVELOPMENT 9217 05:59:34,200 --> 05:59:35,880 DESTRUCTION OF THE PANCREAS, THE 9218 05:59:35,880 --> 05:59:38,200 BETA CELLS IN 9219 05:59:38,200 --> 05:59:38,720 M.S. PANCHAL: CREEIUS. 9220 05:59:38,720 --> 05:59:41,320 >> THEY LIKE YOU, BETTER STOP 9221 05:59:41,320 --> 05:59:42,240 PROGRESS OR OTHERWISE. 9222 05:59:42,240 --> 05:59:44,600 >> THEY EXIST. SO WE STARTED 9223 05:59:44,600 --> 05:59:46,920 2019, WILL GO ANYWAY 9224 05:59:46,920 --> 05:59:50,160 TWO WEEKS FOR HE TO RECEIVE 9225 05:59:50,160 --> 05:59:51,520 SUBSTITUTE MEDICINE -- 9226 05:59:51,520 --> 05:59:54,480 ESSENTIALLY REPLACES THE CTLA 4 9227 05:59:54,480 --> 05:59:56,600 PROTEIN AND AT HOME HE TAKES 9228 05:59:56,600 --> 05:59:58,080 MEDICATION TO BRING IMMUNITY 9229 05:59:58,080 --> 06:00:01,480 SYSTEM DOWN TO NOT ENTER 9230 06:00:01,480 --> 06:00:03,040 OVERDRIVE. SO, YOU REMEMBER 9231 06:00:03,040 --> 06:00:04,200 THE FIRST FEW WEEKS WHEN WE 9232 06:00:04,200 --> 06:00:06,800 DO MANY GO TO THIS? DO IT 9233 06:00:06,800 --> 06:00:09,360 DO YOU REMEMBER? DO YOU REMEMBER 9234 06:00:09,360 --> 06:00:11,040 GO TO THIS HOW ARE YOU 9235 06:00:11,040 --> 06:00:11,920 FEEL LIKE GOING THERE FOR THE FIRST TIME? 9236 06:00:11,920 --> 06:00:12,720 >> AFRAID. 9237 06:00:12,720 --> 06:00:13,920 >> WHAT MAKES YOU AFRAID?? 9238 06:00:13,920 --> 06:00:14,960 >> SHARP THINGS. 9239 06:00:14,960 --> 06:00:17,280 >> SHARP THING, YES. SO WE 9240 06:00:17,280 --> 06:00:18,680 WILL GO EVERY TWO WEEKS FOR A 9241 06:00:18,680 --> 06:00:20,920 A WHILE AND THEN FOR TWO 9242 06:00:20,920 --> 06:00:22,720 YEARS WE DO IT EVERY FOUR WEEKS 9243 06:00:22,720 --> 06:00:24,160 TRAVEL FROM TEXAS TO 9244 06:00:24,160 --> 06:00:26,280 BETHESDA. AND HERE THEY RECENTLY ARE 9245 06:00:26,280 --> 06:00:29,720 CHANGE US NOW WE HAVE 9246 06:00:29,720 --> 06:00:31,280 TRAVEL EVERY SIX WEEKS. SO 9247 06:00:31,280 --> 06:00:34,000 THE TREATMENT WORKED FOR HIM. 9248 06:00:34,000 --> 06:00:36,320 HE -- H HIS LEVEL OF AUTOIMMUNE 9249 06:00:36,320 --> 06:00:37,680 IT'S ALREADY TRENDING DOWN. HE 9250 06:00:37,680 --> 06:00:39,640 IT'S NOT DEVELOPING ANY MORE 9251 06:00:39,640 --> 06:00:41,880 AUTOIMMUNE DISEASES AND THEIR TYPES 9252 06:00:41,880 --> 06:00:44,640 1 DIABETES HAS NOT DEVELOPED. 9253 06:00:44,640 --> 06:00:47,840 HE'S STILL ALMOST ALL FULL 9254 06:00:47,840 --> 06:00:49,760 PANCREATIC FUNCTION. SO THAT'S IT 9255 06:00:49,760 --> 06:00:51,920 WHERE I FEEL LIKE OUR DIAGNOSIS 9256 06:00:51,920 --> 06:00:53,800 THE ODYSSEY IS DIFFERENT FROM MOST 9257 06:00:53,800 --> 06:00:56,000 PEOPLE, BECAUSE MOST PEOPLE ARE 9258 06:00:56,000 --> 06:00:58,560 NOT DIAGNOSED OR TERM 9259 06:00:58,560 --> 06:01:01,240 THE DISEASE THEY FIGHT WITH 9260 06:01:01,240 --> 06:01:04,480 GETTING A DIAGNOSIS. AND THEN 9261 06:01:04,480 --> 06:01:06,320 THEY HAVE TO STRUGGLE TO FIND A 9262 06:01:06,320 --> 06:01:08,320 HEALING OR TREATMENT. WITH 9263 06:01:08,320 --> 06:01:10,840 VIVIAN, WITH HER STORY, I 9264 06:01:10,840 --> 06:01:12,840 PARENTS -- MY BROTHER AND MOTHER 9265 06:01:12,840 --> 06:01:14,200 THEIR GENERATIONS FIGHTED FOR 9266 06:01:14,200 --> 06:01:17,720 FIND A DIAGNOSIS. BUT VIVIANNE 9267 06:01:17,720 --> 06:01:19,160 YOU CAN GET THE BENEFITS 9268 06:01:19,160 --> 06:01:20,400 THEY FIGHTED AND HE DID NOT 9269 06:01:20,400 --> 06:01:22,320 MUST PROVIDE DISEASES 9270 06:01:22,320 --> 06:01:23,600 DESTROYING HER BODY BECAUSE OF HIM 9271 06:01:23,600 --> 06:01:25,000 YOU CAN GO DIRECTLY TO 9272 06:01:25,000 --> 06:01:26,080 TREATMENT. HE DON'T HAVE TO DO IT 9273 06:01:26,080 --> 06:01:28,560 THROUGH THE PROBLEMS GO 9274 06:01:28,560 --> 06:01:30,960 THROUGH ALL THE DIAGNOSES 9275 06:01:30,960 --> 06:01:33,800 LIKE MY SISTER AND MOTHER DID. 9276 06:01:33,800 --> 06:01:37,280 I THINK LIKE THIS. 9277 06:01:37,280 --> 06:01:38,560 DIAGNOSIS, DISCOVERY 9278 06:01:38,560 --> 06:01:40,240 DISEASE IS THE CEILING FOR ME 9279 06:01:40,240 --> 06:01:41,440 MOTHER AND SISTER. THEY WILL 9280 06:01:41,440 --> 06:01:43,840 FOREVER TO LIVE WITH 9281 06:01:43,840 --> 06:01:44,920 DESTRUCTION OF THIS DISEASE 9282 06:01:44,920 --> 06:01:46,920 HAS BEEN DONE TO THEIR BODY. THEY 9283 06:01:46,920 --> 06:01:48,280 STILL LIVING WITH IT. HE STILL IS 9284 06:01:48,280 --> 06:01:49,400 HA LESIONS ON THEIR BRAIN, THEY 9285 06:01:49,400 --> 06:01:51,720 SMALLER BUT HE STILL HAS IT 9286 06:01:51,720 --> 06:01:54,320 LEAGUE. MY MOTHER JUST YESTERDAY 9287 06:01:54,320 --> 06:01:55,920 HAD 38 POLYPS REMOVED FROM HIM 9288 06:01:55,920 --> 06:01:58,160 STOMACH. HE'S STILL FIGHTING, 9289 06:01:58,160 --> 06:01:59,840 THEY'RE STILL STRUGGLING BUT 9290 06:01:59,840 --> 06:02:01,920 THEIR CEILINGS ARE MY DAUGHTERS 9291 06:02:01,920 --> 06:02:03,720 FLOOR BECAUSE THEY HAVE 9292 06:02:03,720 --> 06:02:05,200 DIAGNOSIS, HE WAS ABLE TO GET 9293 06:02:05,200 --> 06:02:07,200 IMMEDIATE TREATMENT, AND SO 9294 06:02:07,200 --> 06:02:10,240 HE AND HIS FUTURE CHILDREN REAP 9295 06:02:10,240 --> 06:02:12,440 THE BENEFITS OF MY STRUGGLE 9296 06:02:12,440 --> 06:02:15,000 MY MOTHER AND SISTER WHAT THEY ARE IN 9297 06:02:15,000 --> 06:02:16,440 IN. THIS IS A NEW TRACK FOR ME 9298 06:02:16,440 --> 06:02:18,440 MY PRINCESS AND ME IF I STARTED 9299 06:02:18,440 --> 06:02:20,200 PROGRESS THAT MY MOTHER AND 9300 06:02:20,200 --> 06:02:23,320 BROTHER WILL NEVER ARRIVE 9301 06:02:23,320 --> 06:02:25,320 EXPERIENCE. SEARCH 9302 06:02:25,320 --> 06:02:26,720 ANSWER, FIND OUT WHY WE HAPPENED 9303 06:02:26,720 --> 06:02:29,920 MANY AUTOIMMUNE DISEASES, ARE 9304 06:02:29,920 --> 06:02:31,800 THE IMPORTANCE OF OVERCOMING MY MOTHER 9305 06:02:31,800 --> 06:02:33,320 AND BROTHER BUT SEARCH A 9306 06:02:33,320 --> 06:02:38,760 THE HEALING FOR MY DAUGHTER, IS 9307 06:02:38,760 --> 06:02:39,920 HIS CHANCE TO HAVE A 9308 06:02:39,920 --> 06:02:55,560 LIVE NORMAL. 9309 06:02:55,560 --> 06:02:58,640 >> HELLO, EVERYONE. MY NAME IS 9310 06:02:58,640 --> 06:03:00,760 TERRENCE AND THIS IS WHAT IT LOOKS LIKE TO ME 9311 06:03:00,760 --> 06:03:05,760 TERRAN PRINCESS. AND WE ARE 9312 06:03:05,760 --> 06:03:10,200 SO EXCITED TO DO THIS 9313 06:03:10,200 --> 06:03:13,920 ODYSSEY IS WITH YOU ALL. TO GET STARTED 9314 06:03:13,920 --> 06:03:17,680 WITH, MY DAUGHTER AT HER AGE 14 9315 06:03:17,680 --> 06:03:20,920 DIAGNOSIS WITH MESOTHELIOMA 9316 06:03:20,920 --> 06:03:22,920 AND I'LL LET HIM SHARE 9317 06:03:22,920 --> 06:03:26,480 HER STORY BUT FIRST MESOTHELIOMA 9318 06:03:26,480 --> 06:03:33,120 VERY, VERY RARE IN CHILDREN. SO 9319 06:03:33,120 --> 06:03:35,560 AT AGE 14 WE SEE SOME THINGS 9320 06:03:35,560 --> 06:03:37,720 HAPPENING WITH OUR BODY 9321 06:03:37,720 --> 06:03:39,520 DON'T UNDERSTAND. BE ONE OF 9322 06:03:39,520 --> 06:03:43,520 THE BIGGEST THING WE SAW 9323 06:03:43,520 --> 06:03:45,240 ARE HIS LEGS Swollen FROM HIM 9324 06:03:45,240 --> 06:03:49,000 KNEEL AT HIS FEET. AND 9325 06:03:49,000 --> 06:03:52,520 THAT REALLY CONCERNS ME 9326 06:03:52,520 --> 06:03:56,800 AND HIS MOTHER. SO WE WILL HAVE 9327 06:03:56,800 --> 06:03:59,080 SHE WENT TO THE DOCTOR, GET SOMETHING 9328 06:03:59,080 --> 06:04:01,120 CHECKED AND THEY THINK THAT'S IT 9329 06:04:01,120 --> 06:04:04,480 MOSTLY IN HIS KIDNEYS. IT 9330 06:04:04,480 --> 06:04:05,600 DOCTORS TODAY DO NOT THINK 9331 06:04:05,600 --> 06:04:13,640 ABOUT ANY TYPE OF CANCER. SO 9332 06:04:13,640 --> 06:04:15,840 BEFORE WE HAVE ANYTHING ELSE 9333 06:04:15,840 --> 06:04:18,480 SET THE RAPTURE, AND BEFORE HIM 9334 06:04:18,480 --> 06:04:19,960 CAN DO THAT 9335 06:04:19,960 --> 06:04:23,680 HIS APPOINTMENT IS WITHDRAWN 9336 06:04:23,680 --> 06:04:26,200 SCHOOL. SO AT THAT TIME WE WERE STILL 9337 06:04:26,200 --> 06:04:27,120 DON'T KNOW WHAT HAPPENED 9338 06:04:27,120 --> 06:04:30,640 I HAVE BEEN TO SCHOOL, THE SPEECH 9339 06:04:30,640 --> 06:04:32,920 ALREADY A SHIT, HE'S TRYING 9340 06:04:32,920 --> 06:04:35,120 STILL WAKE UP ON TIME. AND 9341 06:04:35,120 --> 06:04:37,520 HE TRIED TO EXPLAIN IT TO ME 9342 06:04:37,520 --> 06:04:39,520 WHAT HAPPENED, AND HE DID IT 9343 06:04:39,520 --> 06:04:43,080 A PRETTY GOOD EXPLANATION OF THE JOB TO ME 9344 06:04:43,080 --> 06:04:45,880 WHAT HAS ALREADY HAPPENED BUT IS STILL NOT YET 9345 06:04:45,880 --> 06:04:47,120 THERE ARE MANY CONCERNS 9346 06:04:47,120 --> 06:04:49,320 BECAUSE OF THE WAY HE APPEARS 9347 06:04:49,320 --> 06:04:51,120 LYING IN BED AT SCHOOL. 9348 06:04:51,120 --> 06:04:56,000 SO WE TAKE HIM TO THE HOSPITAL, 9349 06:04:56,000 --> 06:04:59,760 DOCTORS AT OUR LOCAL HOSPITAL 9350 06:04:59,760 --> 06:05:02,000 TOLD US THAT HE WAS EXPOSED TO BLOOD USE 9351 06:05:02,000 --> 06:05:08,720 AT HER FEET. AND THE REASON 9352 06:05:08,720 --> 06:05:11,560 IT BECOMES THAT HERE AT OUR HOSPITAL 9353 06:05:11,560 --> 06:05:12,920 THEY DESTROY THE BLOOD COLLECTS BUT 9354 06:05:12,920 --> 06:05:17,160 THEY DON'T SEE THE TUMOR. SO 9355 06:05:17,160 --> 06:05:18,920 THEN WHEN WE FINALLY LEAVE 9356 06:05:18,920 --> 06:05:22,200 FOR -- BECAUSE WE DON'T HAVE A 9357 06:05:22,200 --> 06:05:23,320 CHILDREN'S HOSPITAL IS HERE, HE 9358 06:05:23,320 --> 06:05:26,440 SHOULD GO TO COLUMBIA, SOUTH 9359 06:05:26,440 --> 06:05:31,640 CAROLINA, TO CHILDREN'S HOSPITAL 9360 06:05:31,640 --> 06:05:34,080 THERE THEY FOUND A TUMOR IN THE METHOD 9361 06:05:34,080 --> 06:05:36,320 PARTS AND STILL DON'T KNOW 9362 06:05:36,320 --> 06:05:40,200 WHAT IS IT SO THAT WE CAN UNDERSTAND 9363 06:05:40,200 --> 06:05:43,160 YOUR JOURNEY ALL 9364 06:05:43,160 --> 06:05:48,840 NOT DIAGNOSED FOR 9365 06:05:48,840 --> 06:05:49,520 SAW CHILDREN'S HOSPITAL 9366 06:05:49,520 --> 06:05:51,400 SOMETHING THEY NEVER HAVE 9367 06:05:51,400 --> 06:05:52,440 WITH EARLIER IN HER AGE 9368 06:05:52,440 --> 06:05:55,440 HE COULD GO TO THE CHILDREN 9369 06:05:55,440 --> 06:06:05,320 Hospital. BUT BUT STILL A 9370 06:06:05,320 --> 06:06:08,120 CONCERNS. SO WE WENT TO COLUMBIA, 9371 06:06:08,120 --> 06:06:10,600 THEY DID A BIOPSY, SEND IT TO 9372 06:06:10,600 --> 06:06:11,600 MASSACHUSETTS, GET YOUR RESULTS BACK 9373 06:06:11,600 --> 06:06:13,920 AND IT HAPPENED 9374 06:06:13,920 --> 06:06:15,320 MESOTHELIOMA BUT MORE 9375 06:06:15,320 --> 06:06:18,120 ESPECIALLY PAIR TA 9376 06:06:18,120 --> 06:06:22,640 KNEEL IN THE MIDDLE. SO 9377 06:06:22,640 --> 06:06:25,320 WHAT HAPPENS TO THE USE OF BLOOD 9378 06:06:25,320 --> 06:06:29,320 HIS LEGS BROKE OFF AND WAS GONE 9379 06:06:29,320 --> 06:06:31,000 INTO HIS LUNGS AND IT TAKES HIM DOWN 9380 06:06:31,000 --> 06:06:33,720 OUT OF SCHOOL. SO THE TUMOR 9381 06:06:33,720 --> 06:06:35,720 VERY BIG ACTUALLY 9382 06:06:35,720 --> 06:06:38,400 COMPRESSION OF THE BLOOD VESSELS 9383 06:06:38,400 --> 06:06:41,720 THE MIDDLE PART IS SO HER 9384 06:06:41,720 --> 06:06:46,320 NOT GETTING ENOUGH GENERAL OX 9385 06:06:46,320 --> 06:06:48,960 OCCUR WHEN BLOOD USE OCCURS 9386 06:06:48,960 --> 06:06:50,960 THE BREAK OFF ENDED UNTIL HIS LUNGS 9387 06:06:50,960 --> 06:06:54,960 SO THAT'S WHY HE'S OUT 9388 06:06:54,960 --> 06:06:57,800 MANY SCHOOLS BECAUSE OF BLOOD 9389 06:06:57,800 --> 06:07:03,480 Blob. I'LL WATCH AND LET IT GO 9390 06:07:03,480 --> 06:07:04,920 HE SAID HE WAS SORRY FOR THAT 9391 06:07:04,920 --> 06:07:09,440 TELL HIM BUT I AM PART OF YOU 9392 06:07:09,440 --> 06:07:10,640 NCI IS TRYING TO FIND OUT WHAT 9393 06:07:10,640 --> 06:07:14,000 IT HAPPENED WITH HIM. SO TAKE IT 9394 06:07:14,000 --> 06:07:14,920 THAT'S FAR. 9395 06:07:14,920 --> 06:07:16,360 >> LIKE MY DAD SAID ME 9396 06:07:16,360 --> 06:07:19,120 DIAGNOSIS WITH MESOTHELIOMA. i 9397 06:07:19,120 --> 06:07:24,160 DIDN'T KNOW UNTIL JUNE 9398 06:07:24,160 --> 06:07:27,520 2014. AND I STILL REMEMBER IT 9399 06:07:27,520 --> 06:07:32,320 DAY BECAUSE I WILL -- 9400 06:07:32,320 --> 06:07:34,120 MORNING AND WALKING 9401 06:07:34,120 --> 06:07:36,720 IT'S ON THE UPPER FLOOR AND IT'S VERY WINDY, THAT'S IT 9402 06:07:36,720 --> 06:07:40,160 LIKE OUT OF NOWHERE 9403 06:07:40,160 --> 06:07:42,160 ABSOLUTELY AND -- YES, I'M GOING 9404 06:07:42,160 --> 06:07:43,960 FOR LUNCH AND THAT'S ME 9405 06:07:43,960 --> 06:07:46,520 OUT ON THE GIRL 9406 06:07:46,520 --> 06:07:48,760 WC. AND ABSOLUTELY JUST 9407 06:07:48,760 --> 06:07:51,320 FROM THAT TIME FORWARD, THIS 9408 06:07:51,320 --> 06:07:54,480 THE ENTIRE ODYSSEY OR JOURNEY, THAT 9409 06:07:54,480 --> 06:07:56,360 LIKE REALLY KEEPING IT 9410 06:07:56,360 --> 06:07:59,000 THE BALL WILL AND. I AM GRATEFUL 9411 06:07:59,000 --> 06:08:04,040 THAT THE BALL SLOWS DOWN. BUT 9412 06:08:04,040 --> 06:08:07,560 I'M ALSO VERY HAPPY EVEN 9413 06:08:07,560 --> 06:08:11,960 THOUGH THE REASON IS NOT 9414 06:08:11,960 --> 06:08:15,040 GREATEST, BUT THE FACT IS ME 9415 06:08:15,040 --> 06:08:18,520 HAVE TO TRAVEL AND MEET ALL 9416 06:08:18,520 --> 06:08:21,120 DIFFERENT TYPES OF PEOPLE AND ME 9417 06:08:21,120 --> 06:08:25,920 HAVE TO TALK IN SOME SPACES 9418 06:08:25,920 --> 06:08:26,680 WHICH I NEVER THOUGHT ABOUT 9419 06:08:26,680 --> 06:08:28,920 WILL GET THE OPPORTUNITY TO SPEAK AT, 9420 06:08:28,920 --> 06:08:32,760 I'M VERY GRATEFUL AND I'M TRYING 9421 06:08:32,760 --> 06:08:35,920 LOOK AT THE POSITIVE SIDE AND 9422 06:08:35,920 --> 06:08:40,600 EVEN THOUGH NOBODY TOLD ANYONE 9423 06:08:40,600 --> 06:08:42,400 THIS, WAS DIAGNOSED WITH 9424 06:08:42,400 --> 06:08:47,560 CANCER ABSOLUTELY CAN -- IT CAN 9425 06:08:47,560 --> 06:08:49,720 REALLY DISTURBING YOUR MENTALITY 9426 06:08:49,720 --> 06:08:54,920 THE COUNTRY IS JUST A LITTLE. AND 9427 06:08:54,920 --> 06:09:00,680 I AM GLAD THAT I HAVE OVERCOMED 9428 06:09:00,680 --> 06:09:07,040 MAPPING MY ZITY AND DEPRESSION. 9429 06:09:07,040 --> 06:09:08,400 I AM THANKFUL FOR THE MEMORIES 9430 06:09:08,400 --> 06:09:10,560 THAT I HAVE WITH EXISTING PEOPLE 9431 06:09:10,560 --> 06:09:12,800 SADLY IS HERE WITH US 9432 06:09:12,800 --> 06:09:20,440 TODAY. JUST REALLY GRANTED. . I AM 9433 06:09:20,440 --> 06:09:22,280 JUST CAN'T WAIT TO SEE WHAT IT IS 9434 06:09:22,280 --> 06:09:24,040 THE FUTURE HAS BEEN AVAILABLE FOR ME AND 9435 06:09:24,040 --> 06:09:37,280 FOR ALL OF YOU. 9436 06:09:37,280 --> 06:09:38,520 >> THIS IS ERIC SID FROM THE OFFICE 9437 06:09:38,520 --> 06:09:39,840 MORE RARE DISEASES RESEARCH. 9438 06:09:39,840 --> 06:09:41,960 I WANT TO START FIRST 9439 06:09:41,960 --> 06:09:43,680 SAYING WE WANT TO THANK EVERYONE 9440 06:09:43,680 --> 06:09:44,680 OUR DIFFERENT PATIENT SPEAKER 9441 06:09:44,680 --> 06:09:47,000 FOR THEIR AMAZING STORIES AND 9442 06:09:47,000 --> 06:09:49,120 A CHANCE TO HEAR FROM THEM. 9443 06:09:49,120 --> 06:09:50,360 ONE OF THE THINGS YOU 9444 06:09:50,360 --> 06:09:51,880 MAY NOTE FROM A DIFFERENT ONE 9445 06:09:51,880 --> 06:09:54,840 THIS STORY IS REALLY A 9446 06:09:54,840 --> 06:09:56,280 DIAGNOSTIC EXPOSURE. I'M IN 9447 06:09:56,280 --> 06:09:58,600 THE SCREEN YOU ALSO SEE 9448 06:09:58,600 --> 06:10:01,480 GRAPHICS TAKEN FROM EACH 9449 06:10:01,480 --> 06:10:03,720 LIFE FOUNDATION REPORTS ON EXPENSES 9450 06:10:03,720 --> 06:10:05,200 RARE DISEASES. WHAT I WANT 9451 06:10:05,200 --> 06:10:07,480 WHAT YOU NEED TO NOTE IS 9452 06:10:07,480 --> 06:10:09,280 THE FACT THAT THIS IS THE ENTIRE DIAGNOSTIC 9453 06:10:09,280 --> 06:10:11,520 THE ODYSSEY PROCESS REQUIRES A LOT, 9454 06:10:11,520 --> 06:10:13,600 MANY, MANY YEARS. AND GO 9455 06:10:13,600 --> 06:10:14,320 THROUGH MANY DIFFERENT THINGS 9456 06:10:14,320 --> 06:10:15,920 SPECIALIST. THIS IS NOT 9457 06:10:15,920 --> 06:10:18,560 DO NOT BE GENERAL IN DIAGNOSIS. WHAT ARE YOU 9458 06:10:18,560 --> 06:10:21,560 LOOK AT THE TOP LEFT IS A 9459 06:10:21,560 --> 06:10:22,720 BASICALLY THE MODEL COMES FROM 9460 06:10:22,720 --> 06:10:25,040 NATIONAL ACADEMY OF SCIENCES 9461 06:10:25,040 --> 06:10:26,280 TECHNIQUES AND TREATMENT 9462 06:10:26,280 --> 06:10:28,360 SHOWING SOME OF THE PROBLEMS 9463 06:10:28,360 --> 06:10:30,680 ABOUT HOW DIAGNOSTICS WORK IN 9464 06:10:30,680 --> 06:10:33,880 PROBLEMS AROUND THERE. ADA A 9465 06:10:33,880 --> 06:10:35,760 OFTEN CLICK ON THE SICK PROCESS HERE 9466 06:10:35,760 --> 06:10:36,920 TIME AT WHICH THE PATIENT STARTED 9467 06:10:36,920 --> 06:10:39,400 GET DIAGNOSTICS THROUGH 9468 06:10:39,400 --> 06:10:41,320 THE DIAGNOSTIC PROCESS WILL START 9469 06:10:41,320 --> 06:10:43,120 COLLECT INFORMATION WITH THEM 9470 06:10:43,120 --> 06:10:44,320 PROVIDER AND THEN START 9471 06:10:44,320 --> 06:10:46,280 INTEGRATING TYPE DIFFERENCES 9472 06:10:46,280 --> 06:10:48,080 LAB AND OTHER ACTIONS 9473 06:10:48,080 --> 06:10:49,720 THROUGH WORKING DIAGNOSIS 9474 06:10:49,720 --> 06:10:50,920 AND CYCLE IT OVER AND OVER 9475 06:10:50,920 --> 06:10:52,960 AGAIN. SO, VERY VERY UN 9476 06:10:52,960 --> 06:10:55,840 THIS PROCESS IS NORMAL 9477 06:10:55,840 --> 06:10:58,280 DISEASES ARE RARE BECAUSE WE ARE IMPOSSIBLE 9478 06:10:58,280 --> 06:11:00,640 HAVE A TEXT TEST THAT IS CAPABLE OF DIAGNOSIS 9479 06:11:00,640 --> 06:11:02,520 MANY DISEASES ARE RARE BUT ALSO 9480 06:11:02,520 --> 06:11:04,640 IT COULD HAVE BEEN AWESOME BEFORE IF THERE WAS 9481 06:11:04,640 --> 06:11:06,520 THIS IS ONE THAT PROVIDERS NEED TO KNOW 9482 06:11:06,520 --> 06:11:09,320 THE MESSAGE IS PART OF THE WHOLE 9483 06:11:09,320 --> 06:11:10,840 THE PROBLEM IS UNDERSTANDING THIS 9484 06:11:10,840 --> 06:11:13,120 IT'S A JOURNEY, OVERALL, IT IS 9485 06:11:13,120 --> 06:11:14,320 MANY DIFFERENT PATIENTS 9486 06:11:14,320 --> 06:11:16,840 DISEASES WILL FACE. AND PARTS ARE 9487 06:11:16,840 --> 06:11:18,200 UNDERSTAND WHO YOU NEED TO BE 9488 06:11:18,200 --> 06:11:20,440 REACH AND CONNECT WITH, 9489 06:11:20,440 --> 06:11:22,120 I SHOWN THIS METHOD BEFORE 9490 06:11:22,120 --> 06:11:23,920 THE RIGHT SIDE IS PATIENCE 9491 06:11:23,920 --> 06:11:25,720 JOURNEY MAP TO DIAGNOSIS BY 9492 06:11:25,720 --> 06:11:27,840 NATIONAL ORGANIZATION FOR 9493 06:11:27,840 --> 06:11:31,360 A RARE DISEASE, NORD, THEY CALLED IT 9494 06:11:31,360 --> 06:11:34,200 ATTENTION TO PRIMARY ROLE 9495 06:11:34,200 --> 06:11:35,640 CARE PROVIDES AZ AS WELL AS YOU ARE 9496 06:11:35,640 --> 06:11:37,440 YOU NEED TO TAKE ADVANTAGE OF THE DIFFERENT 9497 06:11:37,440 --> 06:11:39,120 THE SPECIALIST YOU SEE. 9498 06:11:39,120 --> 06:11:42,560 THE PRIMARY CARE PROVIDER IS 9499 06:11:42,560 --> 06:11:44,480 INTEGRAL IMPORTANCE FOR THIS 9500 06:11:44,480 --> 06:11:45,880 ODYSSEY FINDS THE DOCTOR 9501 06:11:45,880 --> 06:11:48,920 CARE AND COORDINATION CHAMPION 9502 06:11:48,920 --> 06:11:50,040 HELP CONNECT YOU THROUGH 9503 06:11:50,040 --> 06:11:51,320 DIFFERENT SPECIALISTS AND 9504 06:11:51,320 --> 06:11:52,280 INTEGRATION OF THAT INFORMATION 9505 06:11:52,280 --> 06:11:54,280 IMPORTANT FOR THE DIAGNOSTIC PROCESS. 9506 06:11:54,280 --> 06:11:56,320 SO FIND SOMEONE YOU CAN TRUST 9507 06:11:56,320 --> 06:11:58,760 AND YOU CAN SHARE 9508 06:11:58,760 --> 06:12:01,280 YOUR HISTORY SYMPTOMS, AND YOU 9509 06:12:01,280 --> 06:12:04,440 STORIES, CREATE UNDERSTANDING AND 9510 06:12:04,440 --> 06:12:05,440 INTERPRET HEALTH GUIDELINES THROUGH 9511 06:12:05,440 --> 06:12:06,760 THIS IS VERY IMPORTANT. FOR THEM 9512 06:12:06,760 --> 06:12:08,520 LOOKING FOR A SPECIALIST AND NOT 9513 06:12:08,520 --> 06:12:10,120 IT'S DEFINITE WHERE TO GO NEXT, I 9514 06:12:10,120 --> 06:12:11,480 WANT TO BRING MORE RESEARCH 9515 06:12:11,480 --> 06:12:13,720 WHAT WE SHARED BEFORE, 9516 06:12:13,720 --> 06:12:15,720 RARE DISEASES INFORMATION CENTER 9517 06:12:15,720 --> 06:12:17,760 WE HAVE THAT CONTACT CENTER 9518 06:12:17,760 --> 06:12:19,040 STAFF BY INFORMATION 9519 06:12:19,040 --> 06:12:20,720 SPECIALISTS WHO CAN PROVIDE 9520 06:12:20,720 --> 06:12:21,920 INDIVIDUAL SUPPORT SUPPORT 9521 06:12:21,920 --> 06:12:24,160 IN SEARCH FOR A MEDICAL SPECIALIST, 9522 06:12:24,160 --> 06:12:25,320 PATIENT ORGANIZATION OR OTHERS 9523 06:12:25,320 --> 06:12:26,520 YOUR TYPE OF INFORMATION 9524 06:12:26,520 --> 06:12:28,320 FIND OUT ABOUT RARE DISEASES. 9525 06:12:28,320 --> 06:12:31,320 VISIT THE WEBSITE AND OR OPEN IT 9526 06:12:31,320 --> 06:12:32,120 OUR EXHIBITION BOOTH IF YOU HAVE 9527 06:12:32,120 --> 06:12:33,440 ANY QUESTIONS. INSIDE 9528 06:12:33,440 --> 06:12:36,960 ADDITIONALLY, THE RESOURCES ARE 9529 06:12:36,960 --> 06:12:38,480 SHARED PREVIOUSLY ABOUT UNDIAGNOSIZED 9530 06:12:38,480 --> 06:12:40,120 DISEASES NETWORK HERE IS A LINK 9531 06:12:40,120 --> 06:12:44,880 BELOW 9532 06:12:44,880 --> 06:12:46,120 UNDIAGNOSIZED.HMS.HARVARD.EDU. 9533 06:12:46,120 --> 06:12:48,880 THE SERVICE WAS ABSOLUTELY TO BE CURSED 9534 06:12:48,880 --> 06:12:50,520 FOCUS ON THE PEOPLE WHO HAVE GONE 9535 06:12:50,520 --> 06:12:53,240 THROUGH AND HAVE BEEN THROUGH 9536 06:12:53,240 --> 06:12:53,800 SEVERAL DIFFERENT STAGES 9537 06:12:53,800 --> 06:12:55,920 EVALUATION IN THE DIAGNOSTICS 9538 06:12:55,920 --> 06:12:57,120 PROCESS, FIRST FORWARD 9539 06:12:57,120 --> 06:12:58,840 BEGIN TO MAKE SURE THAT YOU 9540 06:12:58,840 --> 06:13:00,040 FIND THE RIGHT SPECIALIST AND 9541 06:13:00,040 --> 06:13:02,600 YOU BEGIN THAT DIAGNOSTIC 9542 06:13:02,600 --> 06:13:03,920 ODYSSEY WITH A RIGHT CHAMPION 9543 06:13:03,920 --> 06:13:05,720 AND A MEDICAL CARE TEAM TO SUPPORT 9544 06:13:05,720 --> 06:13:08,080 YOU. SO PLEASE CALL IF YOU ARE 9545 06:13:08,080 --> 06:13:10,360 THERE'S A QUESTION, IN TERMS 9546 06:13:10,360 --> 06:13:12,720 OUR INFORMATION AND CERTAINTY 9547 06:13:12,720 --> 06:13:14,400 WILL HEAR BACK FROM US 9548 06:13:14,400 --> 06:13:15,160 PANELISTS SOON. THANK YOU 9549 06:13:15,160 --> 06:13:28,720 YOU. 9550 06:13:28,720 --> 06:13:30,440 >> I SINCERELY APPRECIATE ALL 9551 06:13:30,440 --> 06:13:31,680 PANELIST FOR THEM 9552 06:13:31,680 --> 06:13:32,760 PARTICIPATE AND SHARE 9553 06:13:32,760 --> 06:13:35,480 SPECIAL STAGES OF THE STORY TO 9554 06:13:35,480 --> 06:13:37,120 BRING YOUR FAVORITE AND SHOW IT 9555 06:13:37,120 --> 06:13:38,840 THIS IS TO ALL OF US. I HAVE A 9556 06:13:38,840 --> 06:13:41,720 QUESTION TO ALL OF YOU. WHAT 9557 06:13:41,720 --> 06:13:43,400 THAT BRINGS YOUR MESSAGE HOME 9558 06:13:43,400 --> 06:13:48,960 WANT TO SEND TO OUR AUDIENCE? 9559 06:13:48,960 --> 06:13:51,120 >> I WOULD SAY TO NEVER GIVE UP. 9560 06:13:51,120 --> 06:13:55,520 TO KEEP FIGHTING TO STAY STRONG 9561 06:13:55,520 --> 06:13:56,760 CONTINUE LOOKING FOR THE POSITIVE 9562 06:13:56,760 --> 06:13:58,760 AND THINGS ARE OPTIMISTIC AND HAPPY 9563 06:13:58,760 --> 06:14:01,120 IN LIFE. WE ALL NEED TO BE CONNECTED 9564 06:14:01,120 --> 06:14:02,880 WITH THE THINGS THAT ARE 9565 06:14:02,880 --> 06:14:04,920 darling. BUT IT'S STILL THERE 9566 06:14:04,920 --> 06:14:07,080 HOW TO TRY TO CHASE IT AND 9567 06:14:07,080 --> 06:14:11,480 BE AS HAPPY AS WE CAN. 9568 06:14:11,480 --> 06:14:14,240 >> I WOULD SAY TO TRUST YOU 9569 06:14:14,240 --> 06:14:15,320 Instinct, IF YOU FEEL THAT 9570 06:14:15,320 --> 06:14:17,160 SOMETHING IS WRONG WITH YOU 9571 06:14:17,160 --> 06:14:20,520 CHILDREN AND DIAGNOSIS NOT OR 9572 06:14:20,520 --> 06:14:23,280 EVEN THE LACK OF DIAGNOSIS IS NOT 9573 06:14:23,280 --> 06:14:27,800 WHAT YOU FEEL IS THE ANSWER 9574 06:14:27,800 --> 06:14:30,040 EXPLORE GETTING A DIAGNOSIS, AND 9575 06:14:30,040 --> 06:14:32,520 THEN ALSO AFTER YOU HAVE THAT 9576 06:14:32,520 --> 06:14:37,120 DIAGNOSIS, DON'T BE LIMITED TO 9577 06:14:37,120 --> 06:14:38,720 THAT'S WITH LIMITATIONS. EVERY CHILD IS THERE 9578 06:14:38,720 --> 06:14:39,680 DIFFERENT. FIND THEM WHERE THEY ARE 9579 06:14:39,680 --> 06:14:42,760 BE THERE AND KNOW THAT THEY WILL GET IT 9580 06:14:42,760 --> 06:14:45,360 IT IS IN ITS OWN TIME. AVA HAS 9581 06:14:45,360 --> 06:14:47,160 DO MORE THAN WE TELL US TO DO 9582 06:14:47,160 --> 06:14:49,520 WILL DO THE DIAGNOSIS AND 9583 06:14:49,520 --> 06:14:52,120 HE CONTINUES VERY EVERY DAY, 9584 06:14:52,120 --> 06:14:58,160 VERY SMALL BUT IT CAN HAPPEN 9585 06:14:58,160 --> 06:15:01,360 >> I WANT TO GIVE PEOPLE HOPE 9586 06:15:01,360 --> 06:15:03,720 WHO SEEKS ANSWERS AND DOES 9587 06:15:03,720 --> 06:15:05,960 THIS IS OUR RESEARCH STUDY 9588 06:15:05,960 --> 06:15:08,760 PROOF THAT IT WORKS. WE ARE 9589 06:15:08,760 --> 06:15:11,120 BENEFIT FROM 9590 06:15:11,120 --> 06:15:12,720 DIAGNOSIS OF OTHERS AND 9591 06:15:12,720 --> 06:15:13,920 SUCCESSFUL TREATMENT 9592 06:15:13,920 --> 06:15:15,760 TO OTHER PEOPLE. WE ARE 9593 06:15:15,760 --> 06:15:17,840 DEFINITELY STILL EXPERIMENTAL, 9594 06:15:17,840 --> 06:15:20,120 THEY DON'T KNOW WHAT MY CHILD IS LIKE 9595 06:15:20,120 --> 06:15:22,400 WILL REACTION TO LONG MEDICATION 9596 06:15:22,400 --> 06:15:24,080 IT'S A TIMELINE BUT THERE IS HOPE. IT 9597 06:15:24,080 --> 06:15:27,160 WORKS. RESEARCH SUCCESSFUL. 9598 06:15:27,160 --> 06:15:29,480 SEEK ANSWERS AND GET 9599 06:15:29,480 --> 06:15:30,720 TREATMENT WAS SUCCESSFUL. WE ARE 9600 06:15:30,720 --> 06:15:31,920 IN PROOF, OUR FAMILY IS 9601 06:15:31,920 --> 06:15:33,480 THE PROOF. IN SHORT 9602 06:15:33,480 --> 06:15:34,920 AMOUNT OF TIME FOR A GENERAL RATING 9603 06:15:34,920 --> 06:15:39,000 GO NEXT. THE NEXT GENERATION. 9604 06:15:39,000 --> 06:15:41,080 WHAT SHOULD A BABY SAY TO A 9605 06:15:41,080 --> 06:15:42,080 CHILDREN WHO MAY HAVE RARE DISEASES 9606 06:15:42,080 --> 06:15:45,400 LIKE YOU? WHAT WILL YOU 9607 06:15:45,400 --> 06:15:48,040 TELL THEM? WHEN THEY ARE SCARED 9608 06:15:48,040 --> 06:15:49,640 MANY HOSPITALS ARE UNNECESSARY 9609 06:15:49,640 --> 06:15:50,040 OR SOMETHING. 9610 06:15:50,040 --> 06:15:50,560 >> I DON'T KNOW. 9611 06:15:50,560 --> 06:15:53,040 >> YOU DON'T KNOW? DO YOU 9612 06:15:53,040 --> 06:15:54,720 TELL THEM IT'S GOOD AND IT GETS IT 9613 06:15:54,720 --> 06:15:56,520 BETTER? YES? AND BE STRONG 9614 06:15:56,520 --> 06:16:01,640 AND DARE YOU? YES. 9615 06:16:01,640 --> 06:16:04,120 >> BIBLE VERSES BE STRONG AN 9616 06:16:04,120 --> 06:16:04,480 THE BRAVE. 9617 06:16:04,480 --> 06:16:05,320 >> UH-HUH. 9618 06:16:05,320 --> 06:16:12,120 >> YES. 9619 06:16:12,120 --> 06:16:14,960 >> I ENJOY SOMETHING I WILL 9620 06:16:14,960 --> 06:16:17,320 TO SAY IS TO HAVE FAITH EVEN THOUGH 9621 06:16:17,320 --> 06:16:20,600 IT BECAME VERY DIFFICULT AND DESPITE 9622 06:16:20,600 --> 06:16:25,120 IT SEEMS POSSIBLE TO ACHIEVE, 9623 06:16:25,120 --> 06:16:27,160 AND FROM MY EXPERIENCE, WE BOTH 9624 06:16:27,160 --> 06:16:29,800 KNOW THAT THEY REALLY DO rub together 9625 06:16:29,800 --> 06:16:33,400 PEOPLE DIE AND -- YEAH, WHEN 9626 06:16:33,400 --> 06:16:36,080 YOU HAVE ENOUGH FAITH THAT YOU CAN DO ANYTHING 9627 06:16:36,080 --> 06:16:36,320 ANYTHING. 9628 06:16:36,320 --> 06:16:41,040 >> OH, YES. EVEN WITH HIM 9629 06:16:41,040 --> 06:16:43,640 AS A CHILD EVEN THOUGH HE WAS 22 YEARS OLD 9630 06:16:43,640 --> 06:16:45,600 NOW, BUT SEE A LOT OF CHILDREN 9631 06:16:45,600 --> 06:16:48,280 HOSPITALS AND HOW THEY ARE RESILIENT 9632 06:16:48,280 --> 06:16:52,760 IT IS, VERY AMAZING TO SEE. 9633 06:16:52,760 --> 06:16:55,640 IT EVEN GROWS, BECAUSE OF SEEING 9634 06:16:55,640 --> 06:16:59,280 THAT'S ONE THING I LEARNED 9635 06:16:59,280 --> 06:17:03,000 SEEING ADVERTISEMENTS ON TV, 9636 06:17:03,000 --> 06:17:05,680 NOT COMPARED TO REAL LIFE 9637 06:17:05,680 --> 06:17:07,520 THE SITUATIONS PEOPLE LIVE IN 9638 06:17:07,520 --> 06:17:08,880 THROUGH. I KNOW 9639 06:17:08,880 --> 06:17:11,160 ADVERTISING IS NICE BUT WHEN 9640 06:17:11,160 --> 06:17:14,120 IT HAPPENED TO YOU, IT CHANGED 9641 06:17:14,120 --> 06:17:16,840 YOUR LIFE TO THE FULLEST. BUT YOU 9642 06:17:16,840 --> 06:17:18,280 LEARN HOW TO DEAL WITH IT AND 9643 06:17:18,280 --> 06:17:22,920 HOW TO OVERCOME IT. AND LIKE 9644 06:17:22,920 --> 06:17:25,520 TROY SAYS, LOOK AT THE POSITIVES 9645 06:17:25,520 --> 06:17:27,600 IT'S ALL IN IT. AND EVERYTHING WILL WORK 9646 06:17:27,600 --> 06:17:31,240 OUT. EVEN ON A BAD DAY. 9647 06:17:31,240 --> 06:17:33,040 >> THANK YOU, MUCH FOR 9648 06:17:33,040 --> 06:17:34,320 SHARE YOUR STORY AND I HOPE 9649 06:17:34,320 --> 06:17:37,560 VIEWERS, WHEREVER YOU ARE 9650 06:17:37,560 --> 06:17:39,560 IN YOUR ODYSSEY, THE BEGINNING 9651 06:17:39,560 --> 06:17:41,720 MIDDLE O OR END, GOOD LUCK 9652 06:17:41,720 --> 06:17:43,760 EVERYONE IS HOPE. THANK YOU FOR 9653 06:17:43,760 --> 06:17:45,520 WATCH OUR SESSIONS AND INSIDE 9654 06:17:45,520 --> 06:17:46,920 FINALLY I WANT TO BRING YOU 9655 06:17:46,920 --> 06:17:48,680 ATTENTION USEFUL TOOLS 9656 06:17:48,680 --> 06:17:50,560 AND RESOURCES ARE PREPARED 9657 06:17:50,560 --> 06:18:00,920 YOU. THANK YOU. 9658 06:18:00,920 --> 06:18:02,600 >> HELLO, EVERYONE. THANK YOU 9659 06:18:02,600 --> 06:18:04,040 MUCH TO STAY WITH US 9660 06:18:04,040 --> 06:18:09,480 RARE DISEASES DAY. WE HAVE 9661 06:18:09,480 --> 06:18:10,520 ALMOST 2000 PEOPLE JOINED FROM 9662 06:18:10,520 --> 06:18:13,280 AROUND THE WORLD. I DON'T KNOW 9663 06:18:13,280 --> 06:18:16,520 HOW COULD SOMETHING HAPPEN 9664 06:18:16,520 --> 06:18:18,080 tiring but VERY FUN 9665 06:18:18,080 --> 06:18:18,920 SO THANK YOU VERY MUCH FOR 9666 06:18:18,920 --> 06:18:21,000 STAY. BEFORE I CONTINUE I WANT 9667 06:18:21,000 --> 06:18:23,080 THANKS AGAIN ALICE CHEN, 9668 06:18:23,080 --> 06:18:24,960 MIRA SHAW AND MANY OTHERS FOR 9669 06:18:24,960 --> 06:18:26,480 INFORMATIVE ORGANIZATION AND 9670 06:18:26,480 --> 06:18:28,720 TODAY'S INSPIRATION AGENDA. PLEASE 9671 06:18:28,720 --> 06:18:31,040 GIVE ALICE AND THE TEAM A TRY 9672 06:18:31,040 --> 06:18:31,920 VIRTUAL APPLAUSE. THANK YOU 9673 06:18:31,920 --> 06:18:33,720 LOTS. 9674 06:18:33,720 --> 06:18:35,440 I WANT TO CLOSE BY SHARING 9675 06:18:35,440 --> 06:18:38,040 SOME REFLECTIONS OF THE DAY AND 9676 06:18:38,040 --> 06:18:40,760 THERE ARE MANY OF THEM. I FOUND 9677 06:18:40,760 --> 06:18:43,440 IT'S VERY HARD TO PROVIDE IT 9678 06:18:43,440 --> 06:18:45,120 DOWN. AT N CAT EVERY DAY IS 9679 06:18:45,120 --> 06:18:46,480 DAY A RARE DISEASE BUT I LEARNED 9680 06:18:46,480 --> 06:18:47,480 SOMETHING NEW FROM A RARE DISEASE 9681 06:18:47,480 --> 06:18:49,280 DAY HERE. THIS EVENT IS US 9682 06:18:49,280 --> 06:18:51,840 HAS BEEN TODAY. AND I HOPE YOU HAVE 9683 06:18:51,840 --> 06:18:54,040 TOO. WE HEARD ABOUT 9684 06:18:54,040 --> 06:18:54,720 TREMENDOUS ECONOMIC BURDEN 9685 06:18:54,720 --> 06:18:56,280 RARE DISEASES. VIA NCATS LED 9686 06:18:56,280 --> 06:18:57,880 STUDYING THE IMPACT OF RARE DISEASES 9687 06:18:57,880 --> 06:19:00,320 IN HEALTH CARE SYSTEMS. US 9688 06:19:00,320 --> 06:19:01,760 DIRECT MEDICAL COSTS FOUND 9689 06:19:01,760 --> 06:19:06,320 FOR RARE DISEASES IN ONE YEAR IS 9690 06:19:06,320 --> 06:19:07,520 APPROXIMATELY $400 BILLION DIRECTLY 9691 06:19:07,520 --> 06:19:09,880 MEDICAL COSTS. AND THIS STUDY 9692 06:19:09,880 --> 06:19:11,320 IS ABOVE OTHER PEOPLE 9693 06:19:11,320 --> 06:19:12,920 IMPORTANT STUDY OF EACH 9694 06:19:12,920 --> 06:19:14,960 LIVING FOUNDATIONS WHERE THEY ARE FOUND 9695 06:19:14,960 --> 06:19:17,200 USING A VERY DIFFERENT APPROACH 9696 06:19:17,200 --> 06:19:20,360 THE VERY SAME NUMBER. IN ABOUT 9697 06:19:20,360 --> 06:19:21,320 $450 BILLION IN DIRECT MEDICAL 9698 06:19:21,320 --> 06:19:26,080 FEES. OVER $1 TRILLION 9699 06:19:26,080 --> 06:19:28,400 TOTAL COSTS PER YEAR FOR 9700 06:19:28,400 --> 06:19:30,760 THOSE WITH RARE DISEASES. THIS 9701 06:19:30,760 --> 06:19:32,440 DATA BEFORE COVID AND ME 9702 06:19:32,440 --> 06:19:34,560 THE COVID BETS HAVE ONLY ENLARGED 9703 06:19:34,560 --> 06:19:36,760 THIS COST. PAY ATTENTION TO ONE 9704 06:19:36,760 --> 06:19:38,680 TRILLION COSTS, INCORP LEVEL COSTS 9705 06:19:38,680 --> 06:19:42,520 TO THE SUPERVISOR. AND I WAS REMEMBERED 9706 06:19:42,520 --> 06:19:45,160 FROM DR. MARGARET BEVIN'S POINT 9707 06:19:45,160 --> 06:19:46,360 STRESSORS ABOUT SUPERVISORS AND 9708 06:19:46,360 --> 06:19:48,080 IMPACT ON QUALITY OF LIFE. HE 9709 06:19:48,080 --> 06:19:49,920 TALKED ABOUT HER DAUGHTER WITH 9710 06:19:49,920 --> 06:19:51,120 DIAGNOSIS OF POMPEII DISEASE 9711 06:19:51,120 --> 06:19:52,000 THROUGH A NEWBORN EXAMINATION 9712 06:19:52,000 --> 06:19:56,320 PROGRAM. SEE THE IMPACT 9713 06:19:56,320 --> 06:19:57,280 DIAGNOSIS IN GRANDCHILDREN AND 9714 06:19:57,280 --> 06:20:01,880 FAMILY. HE GAVE US THE REST 9715 06:20:01,880 --> 06:20:04,240 The acronym R IS REST, E IS EAT 9716 06:20:04,240 --> 06:20:05,800 HEALTHY, S IS SLEEP AND IS 9717 06:20:05,800 --> 06:20:08,120 Take care of yourself. AND HE 9718 06:20:08,120 --> 06:20:10,440 GIVING BLANKET PERMISSION TO ALL 9719 06:20:10,440 --> 06:20:12,280 WATCHERS ARE OUT THERE, TO ASK 9720 06:20:12,280 --> 06:20:18,440 Rest. ALWAYS. WE HEAR FROM 9721 06:20:18,440 --> 06:20:21,480 MEHMET WITH ATAXIA, HE TOO 9722 06:20:21,480 --> 06:20:23,520 IDENTIFIED THROUGH A NEWBORN 9723 06:20:23,520 --> 06:20:25,080 FILTERING. AND MEHMET IS 9724 06:20:25,080 --> 06:20:26,400 WORKED HARD SINCE THEN 9725 06:20:26,400 --> 06:20:27,920 DIAGNOSIS FOR NAVIGATION 9726 06:20:27,920 --> 06:20:29,560 RESEARCH AND CLINICAL SPACES 9727 06:20:29,560 --> 06:20:31,400 TOWARDS ASO THERAPY. IT CAN 9728 06:20:31,400 --> 06:20:33,720 HELP HER DAUGHTER. HE FOUND A 9729 06:20:33,720 --> 06:20:35,200 RESEARCHERS TO WORK WITH HIM AND 9730 06:20:35,200 --> 06:20:36,880 FINDING THE RESEARCHER HE FOUND 9731 06:20:36,880 --> 06:20:38,520 COMING OUT IS NOT ALWAYS THE SAME THING 9732 06:20:38,520 --> 06:20:40,520 AS DISCOVERING A TREATMENT. BUT IT IS 9733 06:20:40,520 --> 06:20:42,720 THAT IS AN EXCELLENT START. HOW COULD 9734 06:20:42,720 --> 06:20:44,840 WE HELP FAMILIES LIKE MEHMET'S WHO 9735 06:20:44,840 --> 06:20:46,200 MAY NOT HAVE THE SAME PATH OR 9736 06:20:46,200 --> 06:20:48,200 KNOW WHAT TO DO. NEWBORN 9737 06:20:48,200 --> 06:20:49,440 GENETIC FILTERING AND IMPROVEMENT 9738 06:20:49,440 --> 06:20:51,360 TESTING IS VERY IMPORTANT TO HELP 9739 06:20:51,360 --> 06:20:53,640 DIAGNOSIS IDENTIFICATION OF RARE DISEASES 9740 06:20:53,640 --> 06:20:55,000 EARLY AND IS ONE OF THE KEYS TO 9741 06:20:55,000 --> 06:20:56,360 SHORTEN DIAGNOSTICS 9742 06:20:56,360 --> 06:20:59,360 wandering. BUT MOST OF THE TIME 9743 06:20:59,360 --> 06:21:01,560 THAT ALSO MEANS THE NEXT STEP 9744 06:21:01,560 --> 06:21:03,120 ODYSSEY TREATMENT. That's when 9745 06:21:03,120 --> 06:21:05,160 IT STARTED, GETTING THE DIAGNOSIS 9746 06:21:05,160 --> 06:21:07,520 IT NEEDS A FIRST STEP BUT THEN 9747 06:21:07,520 --> 06:21:08,320 IT WAS THEIR SEARCH 9748 06:21:08,320 --> 06:21:10,720 TREATMENT AND HEALING. OTHER 9749 06:21:10,720 --> 06:21:12,080 THINGS WE CAN DO ARE HIGHLIGHTS 9750 06:21:12,080 --> 06:21:14,080 AWARENESS AND CREATING RESOURCES 9751 06:21:14,080 --> 06:21:16,120 AVAILABLE. ERIC SID TALK ABOUT 9752 06:21:16,120 --> 06:21:17,360 SOME NCATS RELATED RESOURCES 9753 06:21:17,360 --> 06:21:19,520 LIKE THAT'S GENETIC AND RARE 9754 06:21:19,520 --> 06:21:20,840 DISEASE INFORMATION CENTER OR 9755 06:21:20,840 --> 06:21:22,080 GARUD. AND THERE ARE MANY 9756 06:21:22,080 --> 06:21:23,360 SUCH ADDITIONAL RESOURCES 9757 06:21:23,360 --> 06:21:25,320 ON THAT SLIDE ONLY 9758 06:21:25,320 --> 06:21:28,520 SHOW PAST MOMENTS. OTHER 9759 06:21:28,520 --> 06:21:30,120 RESOURCES THROUGH PARTNERS 9760 06:21:30,120 --> 06:21:30,760 EXISTING ORGANIZATIONS 9761 06:21:30,760 --> 06:21:32,320 NOTED TODAY. WE TOO 9762 06:21:32,320 --> 06:21:33,880 HEARING ABOUT MANY NEW EFFORTS AND 9763 06:21:33,880 --> 06:21:37,600 THE STORY MENTIONED. Dr. 9764 06:21:37,600 --> 06:21:38,920 SCOTT DEMAREST FROM N FROM ONE 9765 06:21:38,920 --> 06:21:39,960 ORGANIZATIONS BUILD NETWORKS 9766 06:21:39,960 --> 06:21:41,200 COLLABORATOR AND 9767 06:21:41,200 --> 06:21:44,080 STAKEHOLDERS TO BRING 9768 06:21:44,080 --> 06:21:45,880 MOVE MILA TO RARE 9769 06:21:45,880 --> 06:21:47,440 DISEASE. HE'S TALKING ABOUT DATA SHARING 9770 06:21:47,440 --> 06:21:50,920 AND A GOOD LESSON 9771 06:21:50,920 --> 06:21:52,720 AND BAD. HE TALKED ABOUT THE MANUFACTURING 9772 06:21:52,720 --> 06:21:54,280 MEASURABLE RESOURCES AND JOBS 9773 06:21:54,280 --> 06:21:58,000 WORTH N OF ONE OR N OF 9774 06:21:58,000 --> 06:21:59,400 SMALL DISEASES LIKE THE ones WE DISCUSSED 9775 06:21:59,400 --> 06:22:00,840 DURING THAT PANEL. IN THIS IS 9776 06:22:00,840 --> 06:22:03,480 TYPE OF EFFORTS TO BE CARRIED OUT 9777 06:22:03,480 --> 06:22:04,480 EVERYONE AND EVERYONE SCALE RESEARCH 9778 06:22:04,480 --> 06:22:05,920 ECOSYSTEM RESEARCH CAME TO EXIST 9779 06:22:05,920 --> 06:22:07,240 MORE EXPERIENCE 9780 06:22:07,240 --> 06:22:10,120 EXPERTISE FOR ALL OF US. AND US 9781 06:22:10,120 --> 06:22:11,360 EVERYTHING NEEDED TO HELP MOVE IT 9782 06:22:11,360 --> 06:22:13,680 NEEDLE. Dr. PJ BROOKS SPEAKS 9783 06:22:13,680 --> 06:22:15,160 ABOUT VARIOUS APPROACHES 9784 06:22:15,160 --> 06:22:16,280 SEEING MORE THAN ONE DISEASE 9785 06:22:16,280 --> 06:22:19,840 ON TIME. A RARE DISEASE IS 9786 06:22:19,840 --> 06:22:21,920 HUMAN DIVERSITY. WITH 9787 06:22:21,920 --> 06:22:23,720 DIVERSITY OF DISEASES AND IT 9788 06:22:23,720 --> 06:22:24,600 NEEDS DIVERSITY 9789 06:22:24,600 --> 06:22:29,000 APPROACH. WE TAUGHT ABOUT AAV 9790 06:22:29,000 --> 06:22:30,400 GENE THERAPY FOR PLATFORM VECTORS 9791 06:22:30,400 --> 06:22:31,960 GENE THERAPY AND THE SPEAKING GENE 9792 06:22:31,960 --> 06:22:33,520 THERAPY CONSORTIUM, WE SPEAK 9793 06:22:33,520 --> 06:22:35,920 GENE EDITING AND ANTISENSE 9794 06:22:35,920 --> 06:22:36,960 OLIGOKNEW CLEO PAIRS AND THERE 9795 06:22:36,960 --> 06:22:38,920 WORKS IN OTHER TYPES OF TREATMENT 9796 06:22:38,920 --> 06:22:40,920 MODALITIES THROUGH NCATS SHARE 9797 06:22:40,920 --> 06:22:43,320 MOLECULAR ENTITY PROGRAM. THERE 9798 06:22:43,320 --> 06:22:45,200 THE ENTIRE SESSION IS ON 9799 06:22:45,200 --> 06:22:46,480 RESEARCH ON THE DIVERSITY OF RARE DISEASES 9800 06:22:46,480 --> 06:22:49,000 AND EQUALITY OF CARE WITH 9801 06:22:49,000 --> 06:22:49,920 MODERATE THE SESSION AND 9802 06:22:49,920 --> 06:22:51,160 TALKING INCREASES OUR DIVERSITY 9803 06:22:51,160 --> 06:22:53,120 IN GENETIC STUDIES. AND MAKE SURE 9804 06:22:53,120 --> 06:22:55,560 DIVERSITY IS INCLUDED IN IT 9805 06:22:55,560 --> 06:22:58,760 VARIOUS WAYS. Dr. (inaudible) 9806 06:22:58,760 --> 06:23:00,920 INCREASING DIVERSITY 9807 06:23:00,920 --> 06:23:02,680 ancestral population in 9808 06:23:02,680 --> 06:23:04,120 GENETIC STUDIES ARE VERY IMPORTANT. US 9809 06:23:04,120 --> 06:23:04,920 MUST GET BETTER 9810 06:23:04,920 --> 06:23:06,520 UNDERSTANDING GENETICS 9811 06:23:06,520 --> 06:23:08,760 BASIS OF THE DISEASE 9812 06:23:08,760 --> 06:23:09,680 MECHANISM AND DIVERSITY THAT WE HAVE 9813 06:23:09,680 --> 06:23:11,000 IN PEOPLE WITH THEM 9814 06:23:11,000 --> 06:23:15,360 DISEASE. THIS DOVE'S TAIL 9815 06:23:15,360 --> 06:23:16,720 GOOD WITH SESSION 3 PLANNING 9816 06:23:16,720 --> 06:23:18,440 CLINICAL TRIALS INCLUDED 9817 06:23:18,440 --> 06:23:21,040 BUILDING FROM THE PATIENT'S VOICE. LED A 9818 06:23:21,040 --> 06:23:22,360 PANEL DISCUSSION TO DISCUSS 9819 06:23:22,360 --> 06:23:25,040 SPECIFIC EXAMPLES OF HOW ATR 9820 06:23:25,040 --> 06:23:26,520 PHARMA REACHES OUT TO 9821 06:23:26,520 --> 06:23:28,400 BASIS FOR SARCOIDOSIS 9822 06:23:28,400 --> 06:23:30,400 RESEARCH ADVOCACY GROUPS FOR WORK 9823 06:23:30,400 --> 06:23:31,400 TOGETHER. THERE ARE TWO KEYS 9824 06:23:31,400 --> 06:23:34,120 TAKE AWAY FOR ME IN THAT. ONE 9825 06:23:34,120 --> 06:23:36,760 WORKING WITH ADVERTISEMENTS INVOLVES SKIING 9826 06:23:36,760 --> 06:23:37,680 GROUPS EARLY AND OFTEN ARE KEY 9827 06:23:37,680 --> 06:23:39,800 POINT. THE SECOND IS 9828 06:23:39,800 --> 06:23:41,920 THE IDEA PATIENT HAS A HAIKS LIFE 9829 06:23:41,920 --> 06:23:43,120 HELP OVERCOME THE RARENESS 9830 06:23:43,120 --> 06:23:46,560 DISEASE. AND THAT LIFE HACKS 9831 06:23:46,560 --> 06:23:47,960 COULD BE A HELPING INSIGHT 9832 06:23:47,960 --> 06:23:50,640 BIOLOGY. BIOMEDICAL 9833 06:23:50,640 --> 06:23:53,400 ECOSYSTEM ADVOCACY INDUSTRY 9834 06:23:53,400 --> 06:23:54,840 ACADEMIA, AND PATIENTS 9835 06:23:54,840 --> 06:23:56,520 PARTNERSHIP, ENTIRELY 9836 06:23:56,520 --> 06:23:57,360 ECOSYSTEMS REQUIRE TRUST AND 9837 06:23:57,360 --> 06:23:59,920 TRANSPARENCY. TAKE THE FIRST 9838 06:23:59,920 --> 06:24:01,280 STEPS TO ACHIEVE THE GOAL 9839 06:24:01,280 --> 06:24:03,480 FIND THERAPIES THAT WORK AND 9840 06:24:03,480 --> 06:24:05,840 FOCUS ON PATIENT IMPACT 9841 06:24:05,840 --> 06:24:08,480 LIFE IS VERY IMPORTANT. PATIENT 9842 06:24:08,480 --> 06:24:10,880 NOT A DATA POINT. THEY 9843 06:24:10,880 --> 06:24:14,120 PARTNER. AND THAT REMINDED ME OF 9844 06:24:14,120 --> 06:24:16,520 Dr. ASK LANGFORD acronym. A IS 9845 06:24:16,520 --> 06:24:18,080 ASSUME PEEK HE WANTS TO KNOW 9846 06:24:18,080 --> 06:24:19,320 WHAT -- PEOPLE WANT TO KNOW WHAT 9847 06:24:19,320 --> 06:24:21,800 THE CHOICE IS. S MEANS YOU CAN 9848 06:24:21,800 --> 06:24:23,480 SEEK COUNSELING FROM STAKEHOLDERS. 9849 06:24:23,480 --> 06:24:24,240 ASK WHAT THEY WANT AND 9850 06:24:24,240 --> 06:24:30,040 NEED. K, KNOW YOUR NUMBERS. WHO 9851 06:24:30,040 --> 06:24:31,280 ACCEPT IT TO BE A PART OF YOU 9852 06:24:31,280 --> 06:24:32,720 TRIAL OR LEARN AND WHY. IT 9853 06:24:32,720 --> 06:24:34,840 IS THE MAIN IMPORTANT ASPECT OF 9854 06:24:34,840 --> 06:24:35,680 AROUND UNDERSTANDING WHAT 9855 06:24:35,680 --> 06:24:37,000 PATIENT NEEDS AND HOW TO DO IT 9856 06:24:37,000 --> 06:24:37,680 THE IMPACT OF THE PATIENT'S NEEDS 9857 06:24:37,680 --> 06:24:40,320 BETTER. WE NEED MORE INNOVATION 9858 06:24:40,320 --> 06:24:42,080 FOR MORE EXPERT IN 9859 06:24:42,080 --> 06:24:42,880 BRINGING IN THE UNSERVED 9860 06:24:42,880 --> 06:24:44,800 COMMUNITY AND COMMUNITY 9861 06:24:44,800 --> 06:24:46,720 COLOR, ACCESS TO THINKING 9862 06:24:46,720 --> 06:24:48,920 LEARN FILES. LACK 9863 06:24:48,920 --> 06:24:49,800 INSURANCE, LACK OF FLEXIBILITY 9864 06:24:49,800 --> 06:24:51,840 IN WORK, LACK OF TRANSPORTATION, 9865 06:24:51,840 --> 06:24:53,280 THESE ARE JUST SOME OF THE THINGS 9866 06:24:53,280 --> 06:24:55,200 STILL A FRUSTRATING PROBLEM. 9867 06:24:55,200 --> 06:24:57,880 AND WE STARTED DOING MORE 9868 06:24:57,880 --> 06:24:58,760 DECENTRALIZED TRIALING BUT WE HAVE IT 9869 06:24:58,760 --> 06:25:00,760 LONG JOURNEY. WE HAVE A 9870 06:25:00,760 --> 06:25:03,000 SHORT TIME TO GET THERE. US 9871 06:25:03,000 --> 06:25:06,760 HEAR THE STORY FROM SHILLAN 9872 06:25:06,760 --> 06:25:10,160 RODRIGUEZ PENA, MOTHER AADC 9873 06:25:10,160 --> 06:25:11,480 CHILDREN AND FEET DEFICIENCY 9874 06:25:11,480 --> 06:25:13,640 MYOPEARSON TREATMENT DEFISH SAND 9875 06:25:13,640 --> 06:25:14,520 HOW IMPORTANT IS IT 9876 06:25:14,520 --> 06:25:15,480 UNDERSTANDING NATURAL 9877 06:25:15,480 --> 06:25:16,560 HISTORY IS DRIVEN TOWARD TREATMENT 9878 06:25:16,560 --> 06:25:18,680 APPROACH. Dr. PEARSON SPEAKS 9879 06:25:18,680 --> 06:25:20,920 ABOUT TRAVEL TO PATIENTS 9880 06:25:20,920 --> 06:25:22,920 IN THEIR HOMES AND WHEN COVID 9881 06:25:22,920 --> 06:25:24,480 THIS HIT TURNED INTO TELEMEDICINE 9882 06:25:24,480 --> 06:25:28,120 VISIT. HIS CARE OF GENE 9883 06:25:28,120 --> 06:25:30,400 TRIAL OF THERAPY FOR AADC 9884 06:25:30,400 --> 06:25:31,720 THE LACK SO HE SAW IT 9885 06:25:31,720 --> 06:25:32,720 BEFORE AND AFTER TREATMENT AND 9886 06:25:32,720 --> 06:25:36,200 FOUND A WAY NOT TO SUCCEED 9887 06:25:36,200 --> 06:25:37,400 HERRITY DISTANCE OR BY COVID AND 9888 06:25:37,400 --> 06:25:38,520 FOCUS ON TREATMENT AND 9889 06:25:38,520 --> 06:25:40,520 MAKE AN IMPACT ON THOSE WHO ARE 9890 06:25:40,520 --> 06:25:43,040 HAVE AADC Deficiency. FINDINGS 9891 06:25:43,040 --> 06:25:45,360 HOW TO MEET PEOPLE ANYWHERE DAY 9892 06:25:45,360 --> 06:25:47,560 IS. WE HEARD FROM NORD ABOUT 9893 06:25:47,560 --> 06:25:48,920 TELEHEALTH AND SURVEY 9894 06:25:48,920 --> 06:25:50,200 TREATMENT, THIS APPROACH IS 9895 06:25:50,200 --> 06:25:52,320 IT'S STILL VERY NEEDED, THAT 9896 06:25:52,320 --> 06:25:55,440 ALSO LIKE A STORY OF PREVENTION 9897 06:25:55,440 --> 06:25:56,840 IN TELEHEALTH IS NOT A PANACEA 9898 06:25:56,840 --> 06:25:58,560 FOR ACCESS WE WANT BUT CAN 9899 06:25:58,560 --> 06:25:59,920 GET IT THERE. IT'S STILL THERE 9900 06:25:59,920 --> 06:26:01,920 INTERNET ACCESS AGAINST DISPARITIES, 9901 06:26:01,920 --> 06:26:03,680 COMPUTER CONFIDENCE AND NAVIGATION 9902 06:26:03,680 --> 06:26:05,840 TECHNOLOGY AND HEALTH CARE BASED, 9903 06:26:05,840 --> 06:26:08,600 AND EVEN RESEARCH PROGRAMS, 9904 06:26:08,600 --> 06:26:10,240 SEEING SOMEONE IS ALMOST POSSIBLE 9905 06:26:10,240 --> 06:26:13,640 Awkward and UNABLE TO DO 9906 06:26:13,640 --> 06:26:15,560 SOME THINGS ARE BETTER TO DO INSIDE 9907 06:26:15,560 --> 06:26:17,440 PEOPLE. BUT THIS IS TELEHEALTH 9908 06:26:17,440 --> 06:26:18,720 A FANTASTIC TOOL THAT PROVIDES 9909 06:26:18,720 --> 06:26:20,400 ACCESS REQUIRED. AND HERE 9910 06:26:20,400 --> 06:26:23,800 STAY. AND JUST CAN GET IT 9911 06:26:23,800 --> 06:26:27,120 BETTER. WE HEARD FROM JIM FROM THE 9912 06:26:27,120 --> 06:26:28,800 JM HEAL AND GET FOUNDATION 9913 06:26:28,800 --> 06:26:32,000 INSPIRED BY KATHERINE AILED FORD 9914 06:26:32,000 --> 06:26:35,320 TEACHING FROM ZERO TO 9915 06:26:35,320 --> 06:26:36,760 HEALING. KATHERINE TALKED ABOUT HER 9916 06:26:36,760 --> 06:26:39,400 THE PATIENT'S OWN JOURNEY WITH 9917 06:26:39,400 --> 06:26:41,720 WHERE, M AND HOW DOES HE BELIEVE 9918 06:26:41,720 --> 06:26:43,600 NOW WILL SEEKING TREATMENT AND 9919 06:26:43,600 --> 06:26:45,720 PARTICIPATE IN RESEARCH. THIS A 9920 06:26:45,720 --> 06:26:47,360 STORIES LIKE MONIQUE AND 9921 06:26:47,360 --> 06:26:49,600 VIVIANNE AND TERRENCE AND TERRAN 9922 06:26:49,600 --> 06:26:52,360 AND ERIKA AND TROY EVERYONE 9923 06:26:52,360 --> 06:26:54,680 TALK ABOUT THEM THEMSELVES 9924 06:26:54,680 --> 06:26:57,120 TREATMENT. THIS IS THE PANEL 9925 06:26:57,120 --> 06:26:59,080 WE COULD MATCH TODAY, THERE 9926 06:26:59,080 --> 06:27:00,400 MANY MORE AND I CANNOT THANK YOU 9927 06:27:00,400 --> 06:27:03,320 SPEAKER AND PANELIST 9928 06:27:03,320 --> 06:27:04,520 AND OUR PATIENTS ARE ENOUGH FOR 9929 06:27:04,520 --> 06:27:07,120 SHARING THEIR STORIES ESPECIALLY 9930 06:27:07,120 --> 06:27:08,920 DIAGNOSTICS THAT THEY SHARE 9931 06:27:08,920 --> 06:27:10,240 ODYSSEY, THIS IS THE STORY 9932 06:27:10,240 --> 06:27:12,720 COURAGE, LOVE. CREATIVITY 9933 06:27:12,720 --> 06:27:17,000 AND INNOVATION. AND GRIT. 9934 06:27:17,000 --> 06:27:18,600 THERE ARE PATIENTS WITH RARE DISEASES 9935 06:27:18,600 --> 06:27:20,080 WHO WANTS PROGRESS 9936 06:27:20,080 --> 06:27:21,720 AND I HOPE YOU HEAR SOMETHING 9937 06:27:21,720 --> 06:27:23,560 THIS IS THE DAY THAT GIVES YOU HOPE. IT 9938 06:27:23,560 --> 06:27:25,240 WE LEARN MORE AND SHARE MORE 9939 06:27:25,240 --> 06:27:26,840 TOGETHER, WE WILL HAVE MORE 9940 06:27:26,840 --> 06:27:28,520 MAKE OUR HOPES MAKE FUCK 9941 06:27:28,520 --> 06:27:30,520 MORE CARE TO EVERYONE 9942 06:27:30,520 --> 06:27:32,960 FASTER. BEFORE WE CLOSE 9943 06:27:32,960 --> 06:27:34,600 OUT FOR THE DAY I'LL TURN IT ON 9944 06:27:34,600 --> 06:27:38,160 VIRTUAL STAGE TO DR. CHEN 9945 06:27:38,160 --> 06:27:40,720 FOR CLOSING ANNOUNCEMENT AND 9946 06:27:40,720 --> 06:27:41,800 BEFORE I OFFER YOU WELL, 9947 06:27:41,800 --> 06:27:44,120 THANK YOU FOR JOINING US AND ME 9948 06:27:44,120 --> 06:27:45,320 LOOK FORWARD TO NEXT YEAR. 9949 06:27:45,320 --> 06:27:50,720 ALICE TO YOU. 9950 06:27:50,720 --> 06:27:53,200 >> HI TONI, THANK YOU FOR THAT 9951 06:27:53,200 --> 06:27:56,920 EXCELLENT COVER AND SUMMARY OF 9952 06:27:56,920 --> 06:27:59,480 DAY. WE ARE SO GLAD TO HAVE YOU 9953 06:27:59,480 --> 06:28:02,000 ABLE TO START AND CLOSE US 9954 06:28:02,000 --> 06:28:03,480 EVERY EVENT IS VIRTUAL. I WANT 9955 06:28:03,480 --> 06:28:07,880 SAY A QUICK HELLO TO EVERYONE 9956 06:28:07,880 --> 06:28:09,440 AND SHORTLY PROMISED 9957 06:28:09,440 --> 06:28:10,680 ANNOUNCEMENT AT THE END 9958 06:28:10,680 --> 06:28:12,720 DAY ABOUT TODAY'S CONTEST WINNERS 9959 06:28:12,720 --> 06:28:14,040 AND I WANT TO SORRY 9960 06:28:14,040 --> 06:28:17,880 FORWARD IF I TOLD YOU WRONG 9961 06:28:17,880 --> 06:28:21,280 NAME. TRY TO BE CREATIVE 9962 06:28:21,280 --> 06:28:23,320 HERE. (INAUDIBLE) I WILL NOT GO 9963 06:28:23,320 --> 06:28:25,360 TO THROW OUT THE ACTUAL CONFETTI. SEE IF 9964 06:28:25,360 --> 06:28:31,280 THIS IS A GOOD COMPROMISE. ALL 9965 06:28:31,280 --> 06:28:34,400 TRUE. AND PULL THIS, 9966 06:28:34,400 --> 06:28:39,320 SORRY. SO WE HAVE OUR TOP 9967 06:28:39,320 --> 06:28:42,280 OUR LEADERS COUNCIL WINNER 9968 06:28:42,280 --> 06:28:47,320 CONTEST. THE NAMES ARE HONEST 9969 06:28:47,320 --> 06:28:57,120 RIVER, (INAUDIBLE) JACKSON, 9970 06:28:57,120 --> 06:28:59,560 MONIQUE AND VIVIAN WHO ARE YOU JUST 9971 06:28:59,560 --> 06:29:05,560 HEAR FROM SESSION 7. WE HAVE IT 9972 06:29:05,560 --> 06:29:08,960 ANNA SHUESTER AND LAUREL 9973 06:29:08,960 --> 06:29:10,800 RICHARDSON. THANKS AGAIN FOR 9974 06:29:10,800 --> 06:29:11,880 INTERACT WITH ALL OF US 9975 06:29:11,880 --> 06:29:13,880 TODAY AND HOPES ARE MADE -- 9976 06:29:13,880 --> 06:29:15,800 HELPING TO MAKE BOTH US 9977 06:29:15,800 --> 06:29:17,600 TRY AS MANY VIRTUAL EVENTS 9978 06:29:17,600 --> 06:29:23,040 AS FUN AS POSSIBLE. SOME CLOSING 9979 06:29:23,040 --> 06:29:25,200 DESCRIPTION. AS A REMINDER 9980 06:29:25,200 --> 06:29:28,120 ARCHIVES WILL BE AVAILABLE AT A 9981 06:29:28,120 --> 06:29:30,520 A FEW DAYS ACCESSED THROUGH 9982 06:29:30,520 --> 06:29:31,960 THE SAME VIDEOCAST LINK YOU USE 9983 06:29:31,960 --> 06:29:33,960 TODAY BUT DON'T WORRY IF YOU 9984 06:29:33,960 --> 06:29:35,640 WE WILL SEND ANY LOSSES TO ALL 9985 06:29:35,640 --> 06:29:37,280 REGISTER, IF YOU WANT TO GET 9986 06:29:37,280 --> 06:29:38,640 BE ADVISED, MAKE SURE YOU HAVE IT 9987 06:29:38,640 --> 06:29:42,040 REGISTER FOR TODAY'S EVENT. 9988 06:29:42,040 --> 06:29:43,320 THERE ARE MORE QUESTIONS 9989 06:29:43,320 --> 06:29:45,760 SENT AND WE CAN GET - FROM 9990 06:29:45,760 --> 06:29:48,320 WE GET IT, AS A REMINDER 9991 06:29:48,320 --> 06:29:50,080 WEBCAST WILL BE AVAILABLE FOR 9992 06:29:50,080 --> 06:29:57,440 THREE MONTHS UNTIL MAY SO WE 9993 06:29:57,440 --> 06:29:58,120 IT HAS BEEN AWESOME 9994 06:29:58,120 --> 06:29:59,320 SPEAKER TO CONTINUE ANSWERING 9995 06:29:59,320 --> 06:29:59,920 YOUR QUESTION. IF YOU HAVE 9996 06:29:59,920 --> 06:30:00,520 FEEDBACK, DON'T FORGET TO SHARE 9997 06:30:00,520 --> 06:30:02,000 YOUR MIND IS WITH US. IF YOU 9998 06:30:02,000 --> 06:30:08,800 WE HAVE ENJOYED TODAY'S EVENT 9999 06:30:08,800 --> 06:30:10,800 WANT TO GIVE SPECIAL 10000 06:30:10,800 --> 06:30:11,440 ACKNOWLEDGMENTS TO ALICIA STEVENS 10001 06:30:11,440 --> 06:30:12,040 WHO DOES HARD AND LONG WORK 10002 06:30:12,040 --> 06:30:15,240 HOURS TO PROVIDE EVERYTHING 10003 06:30:15,240 --> 06:30:16,360 TIME. THANKS AGAIN TO US 10004 06:30:16,360 --> 06:30:20,520 EXCELLENT NIH EVENT MANAGEMENT 10005 06:30:20,520 --> 06:30:21,120 THE TEAM AND FINALLY FOR THOSE WHO ENTER 10006 06:30:21,120 --> 06:30:21,760 BETHESDA, MARYLAND TERRITORY, US 10007 06:30:21,760 --> 06:30:23,320 TURNING ON NLM LISTER HILL 10008 06:30:23,320 --> 06:30:26,120 RARE CENTER. YOU CAN SEE IT 10009 06:30:26,120 --> 06:30:28,680 RARE DISEASES LIGHTS GO OFF 10010 06:30:28,680 --> 06:30:30,080 ROCKVILLE PLACE AND MONT WOOD 10011 06:30:30,080 --> 06:30:33,120 ROAD. MOVE AND TICK A 10012 06:30:33,120 --> 06:30:33,720 IMAGE. -- TAKE A PICTURE. 10013 06:30:33,720 --> 06:30:34,480 THANK YOU FOR JOINING US AND US 10014 06:30:34,480 --> 06:32:01,560 SEE YOU NEXT YEAR.