1 00:00:05,480 --> 00:00:08,760 >> HI, EVERYONE. 2 00:00:08,760 --> 00:00:10,360 IT'S PAST 9:00. 3 00:00:10,360 --> 00:00:13,520 WE'RE GOING TO GET STARTED. 4 00:00:13,520 --> 00:00:15,360 WE HAVE A FULL AGENDA TODAY. 5 00:00:15,360 --> 00:00:17,360 I KNOW SOME ARE STILL COMING IN. 6 00:00:17,360 --> 00:00:18,160 TAKE YOUR TIME. 7 00:00:18,160 --> 00:00:19,800 WE'LL KICK OFF THE DAY WITH A 8 00:00:19,800 --> 00:00:21,040 FEW REMARKS. 9 00:00:21,040 --> 00:00:24,840 WE WANTED TO WELL COUPLE TO RARE 10 00:00:24,840 --> 00:00:27,320 DISEASE DAY AT NIH THE FIRST 11 00:00:27,320 --> 00:00:28,680 IN-PERSON COMPONENT IN THREE 12 00:00:28,680 --> 00:00:29,880 YEARS. 13 00:00:29,880 --> 00:00:30,640 THANKS FOR EVERYONE'S PATIENCE 14 00:00:30,640 --> 00:00:33,080 AND UNDERSTANDING AS WE PREPARE 15 00:00:33,080 --> 00:00:35,800 FOR THE 2023 EVENT AND WORK 16 00:00:35,800 --> 00:00:39,800 THROUGH THE NEW CHANGES. 17 00:00:39,800 --> 00:00:43,800 WE'RE AL IS AND AINSLIE AND WE 18 00:00:43,800 --> 00:00:44,960 LEAD THE PLANNING FOR THIS EVENT 19 00:00:44,960 --> 00:00:46,320 WITH A BIG TEAM. 20 00:00:46,320 --> 00:00:49,280 WE ARE FROM THE DIVISION OF RARE 21 00:00:49,280 --> 00:00:50,560 DISEASES RESEARCH INNOVATION 22 00:00:50,560 --> 00:00:53,480 WITHIN THE NATIONAL CENTER FOR 23 00:00:53,480 --> 00:00:54,200 ADVANCING TRANSLATIONAL SCIENCES 24 00:00:54,200 --> 00:00:58,960 AT NIH. 25 00:00:58,960 --> 00:01:09,440 WE WOULD LIKE TO THANK OUR 26 00:01:14,440 --> 00:01:16,520 PLANNING AND OUR CO-SPONSORS 27 00:01:16,520 --> 00:01:20,840 FROM THE NIH CLINICAL CENTER AND 28 00:01:20,840 --> 00:01:30,680 HAD NCI, NHLBI, DRDRI AND USFDA 29 00:01:30,680 --> 00:01:32,800 AND THE CHILDREN'S INN AT NIH, 30 00:01:32,800 --> 00:01:35,280 EVERY LIFE FOUNDATION FOR RARE 31 00:01:35,280 --> 00:01:37,680 DISEASES AND NORD AND UVC. 32 00:01:37,680 --> 00:01:39,880 AS OF THIS MORNING WE HAVE MORE 33 00:01:39,880 --> 00:01:43,120 THAN 2200 PARTICIPANTS -- EXCUSE 34 00:01:43,120 --> 00:01:45,520 ME, 2200 REGISTRANTS IN PERSON 35 00:01:45,520 --> 00:01:47,160 AND ONLINE FROM ALL OVER THE 36 00:01:47,160 --> 00:01:47,360 WORLD. 37 00:01:47,360 --> 00:01:48,880 EVERYONE IS EXCITED TO BRING YOU 38 00:01:48,880 --> 00:01:51,120 A WONDERFUL LINEUP OF SPEAKERS, 39 00:01:51,120 --> 00:01:52,960 PATIENT STORIES, EXHIBITS, 40 00:01:52,960 --> 00:01:55,200 SCIENTIFIC POSTERS AND ARTWORK. 41 00:01:55,200 --> 00:01:57,920 WE'LL NOW GO THROUGH A FEW 42 00:01:57,920 --> 00:01:59,000 HOUSEKEEPING ITEMS AND LOGISTICS 43 00:01:59,000 --> 00:02:04,600 TO HELP YOU NAVIGATE THE DAY. 44 00:02:04,600 --> 00:02:06,240 THE MAIN AGENDA WILL TAKE PLACE 45 00:02:06,240 --> 00:02:07,920 IN THIS AUDITORIUM. 46 00:02:07,920 --> 00:02:09,800 IT CAN BE VIEWED IN THE LOWER 47 00:02:09,800 --> 00:02:11,360 LEVEL OF THE CONFERENCE CENTER 48 00:02:11,360 --> 00:02:13,440 OR FROM THE UPPER LEVEL ON THE 49 00:02:13,440 --> 00:02:13,920 BALCONIES. 50 00:02:13,920 --> 00:02:17,680 WE HAVE PLENTY OF SPACE SO 51 00:02:17,680 --> 00:02:19,080 PLEASE DO NOT HANG OUT BY THE 52 00:02:19,080 --> 00:02:21,720 DOORS OR THE FIRE MARSHAL WILL 53 00:02:21,720 --> 00:02:22,200 COME. 54 00:02:22,200 --> 00:02:24,120 FILMING AND PHOTOGRAPHY IS 55 00:02:24,120 --> 00:02:25,640 TAKING PLACE AT THE EVENT SO IF 56 00:02:25,640 --> 00:02:28,960 YOU DO NOT WISH TO BE FILMED OR 57 00:02:28,960 --> 00:02:29,760 PHOTOGRAPH SEE OUR STAFF AT THE 58 00:02:29,760 --> 00:02:37,880 CHECK-IN DESK. 59 00:02:37,880 --> 00:02:40,440 QUE HAVE OVER FLOW ROOMS FOR 60 00:02:40,440 --> 00:02:42,520 NETWORKING OR YOU CAN VIEW THE 61 00:02:42,520 --> 00:02:44,680 EVENT FROM THOSE AREAS. 62 00:02:44,680 --> 00:02:48,600 YOU CAN SEE ROOMS A, B, C, D, F 63 00:02:48,600 --> 00:02:51,280 AND G ON THE SLIDE AND SEE THE 64 00:02:51,280 --> 00:02:52,480 BATHROOMS AND ELEVATORS LOCATED 65 00:02:52,480 --> 00:02:55,920 ON THE SLIDE ON BOTH LEVELS. 66 00:02:55,920 --> 00:02:59,440 FOR THOSE WHO NEED CLOSED 67 00:02:59,440 --> 00:03:01,440 CAPTIONING YOU CANNING TO OL ON 68 00:03:01,440 --> 00:03:03,960 THIS OPTION -- TOGGLE ON THE 69 00:03:03,960 --> 00:03:05,520 OPTION ON THE NIH VIDEOCAST AND 70 00:03:05,520 --> 00:03:07,720 FOR THOSE IN PERSON YOU CAN ALSO 71 00:03:07,720 --> 00:03:09,800 VIEW LIVE CAPTIONING BY GOING TO 72 00:03:09,800 --> 00:03:12,320 THIS LINK OR SCANNING THE QR 73 00:03:12,320 --> 00:03:14,800 CODE AND WE HAVE A CHANGE FOR 74 00:03:14,800 --> 00:03:18,640 TODAY. 75 00:03:18,640 --> 00:03:26,320 WE HAVE THE EVENT CODE 2824 IF 76 00:03:26,320 --> 00:03:27,960 YOU NEED LIVE CLOSED CAPTIONING 77 00:03:27,960 --> 00:03:30,200 IN PERSON. 78 00:03:30,200 --> 00:03:32,120 IF YOU'RE VIRTUAL THERE'S OTHER 79 00:03:32,120 --> 00:03:33,840 WAYS TO GET THE CLOSED 80 00:03:33,840 --> 00:03:35,480 CAPTIONING TO PLAY AND IF YOU 81 00:03:35,480 --> 00:03:38,040 HAVE QUESTIONS YOU CAN ASK THE 82 00:03:38,040 --> 00:03:41,440 CHECK-IN DESK ABOUT THAT. 83 00:03:41,440 --> 00:03:43,440 WE KNOW OPTIONS ARE A LITTLE 84 00:03:43,440 --> 00:03:45,440 DIFFERENT THIS YEAR AND WE 85 00:03:45,440 --> 00:03:47,120 APPRECIATE YOUR PATIENCE THIS 86 00:03:47,120 --> 00:03:47,640 YEAR. 87 00:03:47,640 --> 00:03:52,360 IF YOU PREORDERED A BOX LUNCH IT 88 00:03:52,360 --> 00:03:55,120 WILL BE READY ON THE CREDENZA ON 89 00:03:55,120 --> 00:03:56,920 THE LOWER LEVEL AROUND NOON. 90 00:03:56,920 --> 00:03:59,000 IF YOU TAKE ADVANTAGE OF THE 91 00:03:59,000 --> 00:04:02,880 SAME-DAY MOBILE ORDERS FOR PICK 92 00:04:02,880 --> 00:04:05,360 UP OR WANT TO WALK OR TAKE THE 93 00:04:05,360 --> 00:04:07,720 SHUTTLE TO BUILDINGS 10, 31 OR 94 00:04:07,720 --> 00:04:09,960 35 AND SEE THE LOCATIONS OF 95 00:04:09,960 --> 00:04:11,360 THESE BUILDINGS RELATIVE TO THE 96 00:04:11,360 --> 00:04:12,600 CONFERENCE CENTER YOU'RE IN 97 00:04:12,600 --> 00:04:14,320 WHICH IS 45. 98 00:04:14,320 --> 00:04:16,520 WE ALSO HAVE SHUTTLE SCHEDULES 99 00:04:16,520 --> 00:04:17,760 OUTSIDE BY THE REGISTRATION DESK 100 00:04:17,760 --> 00:04:19,800 AND MAIN ENTRANCE ON THE UPPER 101 00:04:19,800 --> 00:04:23,640 LEFT LEVEL. 102 00:04:23,640 --> 00:04:25,680 TO CLARIFY, SHUTTLE BUSSES WILL 103 00:04:25,680 --> 00:04:28,480 COME TO THE MAIN ENTRANCE AT THE 104 00:04:28,480 --> 00:04:29,440 CONFERENCE CENTER ON THE UPPER 105 00:04:29,440 --> 00:04:31,680 LEVEL ON THE LEFT AND WE HAVE 106 00:04:31,680 --> 00:04:34,320 SIGNS INDICATING WHERE TO GO FOR 107 00:04:34,320 --> 00:04:34,720 THAT. 108 00:04:34,720 --> 00:04:37,520 YOU'LL NOTICE ON THE UPPER LEVEL 109 00:04:37,520 --> 00:04:39,360 IS AN EXTRA SEATING AREA THOUGH 110 00:04:39,360 --> 00:04:41,360 THE CAFETERIA IN THIS BUILDING 111 00:04:41,360 --> 00:04:44,200 IS CLOSED YOU CAN STILL USED THE 112 00:04:44,200 --> 00:04:47,080 SEATING AREA PAST THE ELEVATORS. 113 00:04:47,080 --> 00:04:51,800 THIS YEAR'S EVENT IS FEATURING 114 00:04:51,800 --> 00:04:52,400 EXHIBITS AND SCIENTIFIC POSTERS 115 00:04:52,400 --> 00:04:55,040 AGAIN. 116 00:04:55,040 --> 00:04:57,600 THIS YEAR WE'RE HOSTING NEARLY 117 00:04:57,600 --> 00:05:04,680 80 TOTAL EXHIBITS AND POSTERS. 118 00:05:04,680 --> 00:05:07,800 THE CIRCLES SHOW WHERE THEY'RE 119 00:05:07,800 --> 00:05:09,920 AT NACHER IN THE UPPER LEVEL 120 00:05:09,920 --> 00:05:12,280 ATRIUM AND THE LOWER LEVEL LOBBY 121 00:05:12,280 --> 00:05:13,960 OUTSIDE THE REGISTRATION DESK AS 122 00:05:13,960 --> 00:05:14,560 WELL AS ROOM E. 123 00:05:14,560 --> 00:05:16,960 FOR THOSE INTERESTED IN VISITING 124 00:05:16,960 --> 00:05:18,400 OUR VIRTUAL EXHIBITS AND 125 00:05:18,400 --> 00:05:19,600 POSTERS, WE'RE GOING INTO MORE 126 00:05:19,600 --> 00:05:28,840 DETAIL ABOUT THAT NEXT. 127 00:05:28,840 --> 00:05:34,200 >> THE EVENT APP CAN BE FOUND BY 128 00:05:34,200 --> 00:05:37,560 SENK FOR HOPIN' OR USE THE 129 00:05:37,560 --> 00:05:39,800 CUSTOMIZED BUTTON ON YOUR 130 00:05:39,800 --> 00:05:42,160 REGISTRATION CONFIRMATION 131 00:05:42,160 --> 00:05:42,400 E-MAIL. 132 00:05:42,400 --> 00:05:43,920 FOR THOSE REGISTERED AND VIEWING 133 00:05:43,920 --> 00:05:47,760 THE EVENT ON VIDEOCAST, THE LINK 134 00:05:47,760 --> 00:05:51,800 PROVIDED HERE IS LOCATED IN THE 135 00:05:51,800 --> 00:05:54,840 DESCRIPTION BELOW AS WELL. 136 00:05:54,840 --> 00:05:56,440 WE'LL NOW GO DETAILS WHEN USING 137 00:05:56,440 --> 00:05:57,720 THE ICON ON THE LEFT. 138 00:05:57,720 --> 00:06:00,120 THIS YEAR YOU CAN EITHER VIEW 139 00:06:00,120 --> 00:06:01,720 THE VIRTUAL LIVE STREAM DIRECTLY 140 00:06:01,720 --> 00:06:06,640 IN THE EVENT APP OR THROUGH 141 00:06:06,640 --> 00:06:09,280 VIDEOCAST.NIH.gov. 142 00:06:09,280 --> 00:06:10,920 WITHIN THE EVENT APP CLICK ON 143 00:06:10,920 --> 00:06:13,080 THE MAIN AGENDA BUTTON ON THE 144 00:06:13,080 --> 00:06:14,400 LEFT NAVIGATION PANE TO WATCH 145 00:06:14,400 --> 00:06:15,240 THE LIVE STREAM. 146 00:06:15,240 --> 00:06:16,480 CLICK ON THE ARROW ON THE BOTTOM 147 00:06:16,480 --> 00:06:19,320 OF THE SCREEN TO GET TO KNOW OUR 148 00:06:19,320 --> 00:06:19,720 SPEAKERS. 149 00:06:19,720 --> 00:06:21,920 TO THE RIGHT OF THE LIVE STREAM 150 00:06:21,920 --> 00:06:23,600 YOU'LL SEE ANOTHER PANE. 151 00:06:23,600 --> 00:06:25,600 CLICK ON MAIN AGENDA TO VIEW THE 152 00:06:25,600 --> 00:06:30,440 CHAT POLL QUESTION, Q&A AND LIVE 153 00:06:30,440 --> 00:06:32,360 UPDATE OF OUR DRDRI TWITTER 154 00:06:32,360 --> 00:06:32,600 ACCOUNT. 155 00:06:32,600 --> 00:06:35,200 YOU CAN CHECK OUT EVENT OR MY 156 00:06:35,200 --> 00:06:35,440 AGENDA. 157 00:06:35,440 --> 00:06:37,440 NEXT LET'S TAKE A LOOK AT 158 00:06:37,440 --> 00:06:39,800 ANOTHER FEATURE ON THE LEFT 159 00:06:39,800 --> 00:06:41,560 NAVIGATION PANE. 160 00:06:41,560 --> 00:06:43,160 DISCUSSIONS. 161 00:06:43,160 --> 00:06:43,800 ANYONE REGISTERED AND LOGGED 162 00:06:43,800 --> 00:06:45,920 INTO THE APP CAN SET UP VIRTUAL 163 00:06:45,920 --> 00:06:47,720 DISCUSSIONS AND BREAKOUTS WITH 164 00:06:47,720 --> 00:06:49,840 OTHER ATTENDEES BY CLICK ON THE 165 00:06:49,840 --> 00:06:52,640 CREATE DISCUSSION BUTTON OR 166 00:06:52,640 --> 00:06:53,280 RESPONDING DIRECTLY TO THOSE 167 00:06:53,280 --> 00:06:54,280 ALREADY CREATED. 168 00:06:54,280 --> 00:06:56,520 FOR A VIRTUAL ATTENDEES THIS IS 169 00:06:56,520 --> 00:06:58,520 A GREAT WAY TO NETWORK AND 170 00:06:58,520 --> 00:06:59,760 CONNECT WITH THOSE IN THE RARE 171 00:06:59,760 --> 00:07:00,200 DISEASE COMMUNITY. 172 00:07:00,200 --> 00:07:02,560 AS WE LEARNED IN THE PREVIOUS 173 00:07:02,560 --> 00:07:05,360 SLIDE, KEEP IN MIND ON THE RIGHT 174 00:07:05,360 --> 00:07:06,920 PANE THERE ARE OTHER TABS TO 175 00:07:06,920 --> 00:07:08,200 CLICK ON. 176 00:07:08,200 --> 00:07:09,760 FOR EXAMPLE, WE'RE IN THE EVENT 177 00:07:09,760 --> 00:07:10,680 TAB RIGHT NOW AND THIS SCREEN 178 00:07:10,680 --> 00:07:13,360 SHOT IS SHOWING THE OPTIONS FOR 179 00:07:13,360 --> 00:07:13,480 Q&A. 180 00:07:13,480 --> 00:07:15,800 QUESTIONS CAN BE SUBMITTED 181 00:07:15,800 --> 00:07:18,600 ANONYMOUSLY. 182 00:07:18,600 --> 00:07:22,000 WE'LL TAKE A LOOK AT THE 183 00:07:22,000 --> 00:07:22,360 NETWORKING TAB. 184 00:07:22,360 --> 00:07:23,520 THERE'S MORE OPPORTUNITIES TO 185 00:07:23,520 --> 00:07:25,080 CONNECT WITH THOSE IN THE 186 00:07:25,080 --> 00:07:25,520 COMMUNITY. 187 00:07:25,520 --> 00:07:27,520 YOU CAN CHOOSE TO JOIN SPEED 188 00:07:27,520 --> 00:07:29,560 NETWORKING WHERE YOU'LL BE ABLE 189 00:07:29,560 --> 00:07:30,840 TO BE MATCHED WITH SOMEONE 190 00:07:30,840 --> 00:07:33,360 RANDOMLY ALSO ONLINE AT THE SAME 191 00:07:33,360 --> 00:07:35,080 TIME AND A VIDEO CHAT WILL 192 00:07:35,080 --> 00:07:35,320 BEGIN. 193 00:07:35,320 --> 00:07:37,240 DON'T FORGET TO UPDATE YOUR 194 00:07:37,240 --> 00:07:39,200 PROFILE SO PEOPLE CAN CONNECT 195 00:07:39,200 --> 00:07:39,720 WITH YOU BASED ON SHARED 196 00:07:39,720 --> 00:07:41,760 INTERESTS. 197 00:07:41,760 --> 00:07:44,840 BELOW SPEED NETWORKING IS A LIST 198 00:07:44,840 --> 00:07:47,040 OF RECOMMENDED CONNECTION AND 199 00:07:47,040 --> 00:07:48,800 ATTENDEES CAN REQUEST A MEETING 200 00:07:48,800 --> 00:07:49,720 AND INVITE OTHERS TO VIDEO CALL 201 00:07:49,720 --> 00:07:52,040 OR SEND A MESSAGE. 202 00:07:52,040 --> 00:07:53,880 THE LAST BUTTON IS PROBABLY WHAT 203 00:07:53,880 --> 00:07:55,000 MOST ARE INTERESTED IN. 204 00:07:55,000 --> 00:07:57,520 THE EXHIBITS AND POSTERS. 205 00:07:57,520 --> 00:07:59,520 COME HERE TO SEE A FULL CATALOG 206 00:07:59,520 --> 00:08:01,280 OF THE EXHIBITERS AND POSTER 207 00:08:01,280 --> 00:08:01,880 PRESENTERS. 208 00:08:01,880 --> 00:08:02,960 THERE'S BUTTONS AT THE TOP TO 209 00:08:02,960 --> 00:08:05,440 FILTER BY WHAT YOU WANT TO SEE 210 00:08:05,440 --> 00:08:07,200 WHETHER THAT'S NIH OR 211 00:08:07,200 --> 00:08:07,880 NIH-FUNDED, IN PERSON EXHIBITS 212 00:08:07,880 --> 00:08:09,400 OR POSTERS. 213 00:08:09,400 --> 00:08:14,160 YOU CAN ALSO ENTER THE FIRST 214 00:08:14,160 --> 00:08:16,760 BOOTH, RARE DISEASE AT NIH 2023 215 00:08:16,760 --> 00:08:19,440 TO FIND INFORMATION ABOUT THE 216 00:08:19,440 --> 00:08:21,600 EVENT AND INFORMATION TO EXPLORE 217 00:08:21,600 --> 00:08:23,840 THE VIRTUAL ART EXHIBITION. 218 00:08:23,840 --> 00:08:25,280 IF YOU SEE THE EVENT AGENDA WE 219 00:08:25,280 --> 00:08:27,800 HAVE A STRONG FOCUS ON RESOURCES 220 00:08:27,800 --> 00:08:29,160 FOR THE RARE DISEASES COMMUNITY. 221 00:08:29,160 --> 00:08:31,360 BECAUSE OF THIS WE WANTED TO 222 00:08:31,360 --> 00:08:34,360 SPECIFICALLY CALL OUT THE BOOTH 223 00:08:34,360 --> 00:08:35,760 HOSTED BY THE NIH NATIONAL 224 00:08:35,760 --> 00:08:36,800 LIBRARY OF MEDICINE. 225 00:08:36,800 --> 00:08:38,600 NLM STAFF ARE LOOK FORWARD TO 226 00:08:38,600 --> 00:08:39,320 TALKING TO YOU AND ANSWERING 227 00:08:39,320 --> 00:08:39,800 YOUR QUESTION. 228 00:08:39,800 --> 00:08:43,160 THEY HAVE A BOOTH HERE IN PERSON 229 00:08:43,160 --> 00:08:46,000 AND VIRTUALLY ON THE HOPIN APP 230 00:08:46,000 --> 00:08:49,400 AND PUT TOGETHER A CUSTOMIZED 231 00:08:49,400 --> 00:08:51,440 PLAY LIST OF VIDEOS BECAUSE WE 232 00:08:51,440 --> 00:08:53,960 HEARD FEEDBACK YOU'D LIKE TO 233 00:08:53,960 --> 00:08:55,120 BETTER SEARCH THE LITERATURE FOR 234 00:08:55,120 --> 00:08:56,800 THE RARE DISEASE OF INTEREST. 235 00:08:56,800 --> 00:08:58,920 SCAN THE QR CODES ON THE SCREEN 236 00:08:58,920 --> 00:09:03,760 TO VISIT THE VIRTUAL BOOTH OR 237 00:09:03,760 --> 00:09:06,640 THEIR TRAINING VIDEOS. 238 00:09:06,640 --> 00:09:08,400 NEXT WE WANTED TO SHARE A FEW 239 00:09:08,400 --> 00:09:11,640 PHOTOS OF THE LIGHT UP FOR RARE 240 00:09:11,640 --> 00:09:12,040 CAMPAIGN. 241 00:09:12,040 --> 00:09:14,160 IN OBSERVANCE OF RARE DISEASE 242 00:09:14,160 --> 00:09:18,560 WEEK, FDA'S BUILDING IN SILVER 243 00:09:18,560 --> 00:09:19,800 SPRING, MARYLAND WILL BE 244 00:09:19,800 --> 00:09:22,200 ILLUMINATED TO DUSK TO DAWN THIS 245 00:09:22,200 --> 00:09:24,120 WEEK AND NIH HAS ILLUMINATED 246 00:09:24,120 --> 00:09:27,040 SOME IN THE PAST IN RECOGNITION 247 00:09:27,040 --> 00:09:28,080 OF RARE DISEASE DAY WITH LIGHTS 248 00:09:28,080 --> 00:09:29,280 PROVIDED BY NORD. 249 00:09:29,280 --> 00:09:31,480 THIS YEAR WE'LL HAVE BUILDING 250 00:09:31,480 --> 00:09:32,880 38A, ACROSS FROM THIS CONFERENCE 251 00:09:32,880 --> 00:09:35,000 CENTER ILLUMINATED THROUGH 252 00:09:35,000 --> 00:09:35,680 TOMORROW MORNING. 253 00:09:35,680 --> 00:09:37,920 WE WANT TO SAY A SPECIAL THANK 254 00:09:37,920 --> 00:09:41,240 YOU TO CHRIS MOUER AND JAMES 255 00:09:41,240 --> 00:09:42,360 TAYLOR WHO LED THE COORDINATION 256 00:09:42,360 --> 00:09:48,120 AT THE EFFORT AT NIH WIN -- 257 00:09:48,120 --> 00:09:50,320 WITH THE OFFICE RESEARCH 258 00:09:50,320 --> 00:09:51,760 FACILITIES AND COULDN'T HAVE 259 00:09:51,760 --> 00:09:53,400 DONE IT WITHOUT THEM AND WANTED 260 00:09:53,400 --> 00:09:56,520 TO SHARE THE PHOTO OF THE 261 00:09:56,520 --> 00:09:56,920 LIGHTS. 262 00:09:56,920 --> 00:09:59,280 >> WE WANTED TO REMIND EVERYONE 263 00:09:59,280 --> 00:10:01,040 ALL ATTENDEES BOTH IN PERSON AND 264 00:10:01,040 --> 00:10:04,200 VIRTUAL ARE EXPECTED TO EXERCISE 265 00:10:04,200 --> 00:10:05,080 PROFESSIONALISM, CONSIDERATION 266 00:10:05,080 --> 00:10:06,640 AND RESPECT IN YOUR SPEECH, 267 00:10:06,640 --> 00:10:08,240 POSTINGS AND OTHER ACTIONS. 268 00:10:08,240 --> 00:10:10,000 THANK YOU AND LET'S HAVE A GREAT 269 00:10:10,000 --> 00:10:18,920 2023 EVENT. 270 00:10:18,920 --> 00:10:20,680 NEXT WE WOULD LIKE TO INTRODUCE 271 00:10:20,680 --> 00:10:23,400 DR. JONI RUTTER TO OFFICIALLY 272 00:10:23,400 --> 00:10:24,960 PROVIDE WELCOMING REMARKS TO 273 00:10:24,960 --> 00:10:26,400 KICK OFF THE DAY. 274 00:10:26,400 --> 00:10:28,640 WE ARE THRILLED THAT DR. RUTTER 275 00:10:28,640 --> 00:10:30,320 HAS BECOME THE DIRECTOR OF NCATS 276 00:10:30,320 --> 00:10:34,000 AND IS OUR FEARLESS LEADER IN 277 00:10:34,000 --> 00:10:36,840 THE IMPORTANT WORK NCATS TAKES 278 00:10:36,840 --> 00:10:39,480 PART IN AND PLANS AND EXECUTES 279 00:10:39,480 --> 00:10:40,520 THE COMPLEX AND MULTIFACETED 280 00:10:40,520 --> 00:10:41,880 PROGRAMS AS IT RELATES TO RARE 281 00:10:41,880 --> 00:10:42,120 DISEASE. 282 00:10:42,120 --> 00:10:43,640 LET'S WELCOME DR. RUTTER TO THE STAGE 283 00:10:43,640 --> 00:10:45,600 >>IT'S SO GREAT TO BE HERE. 284 00:10:45,600 --> 00:10:47,280 IT'S BEEN THREE YEARS SINCE 285 00:10:47,280 --> 00:10:49,360 WE'VE BEEN ABLE TO GATHER 286 00:10:49,360 --> 00:10:54,160 TOGETHER TO WELCOME ALL TO ARE 287 00:10:54,160 --> 00:10:56,000 HERE AND ONLINE AND IT'S SUPER 288 00:10:56,000 --> 00:10:57,080 SPECIAL TO BE HERE AFTER THREE 289 00:10:57,080 --> 00:10:57,520 YEARS. 290 00:10:57,520 --> 00:10:59,080 I'M PLEASED TO BE HERE. 291 00:10:59,080 --> 00:11:01,760 I'M JONI RUTTER AND I'M THE 292 00:11:01,760 --> 00:11:03,200 DIRECTOR OF NCATS WHERE OUR 293 00:11:03,200 --> 00:11:05,960 MISSION IN A NUTSHELL IS TO TURN 294 00:11:05,960 --> 00:11:06,800 SCIENCE INTO HEALTH. 295 00:11:06,800 --> 00:11:09,000 AND MY BACKGROUND IS IN 296 00:11:09,000 --> 00:11:10,600 PHARMACOLOGY AND GENETICS. 297 00:11:10,600 --> 00:11:12,320 I THINK A LOT ABOUT HOW TO BRING 298 00:11:12,320 --> 00:11:16,240 THOSE TWO DISCIPLINES TOGETHER. 299 00:11:16,240 --> 00:11:20,960 AND RARE DISEASES ARE AN IDEAL 300 00:11:20,960 --> 00:11:21,160 PLACE. 301 00:11:21,160 --> 00:11:23,360 AS I LOOK FORWARD TO THE DECADE 302 00:11:23,360 --> 00:11:25,520 AHEAD I CAN SUM UP MY VISION IN 303 00:11:25,520 --> 00:11:27,200 THREE SIMPLE OBJECTIVES. 304 00:11:27,200 --> 00:11:31,680 TO BRING MORE TREATMENTS FOR ALL 305 00:11:31,680 --> 00:11:32,920 PEOPLE MORE QUICKLY. 306 00:11:32,920 --> 00:11:36,000 WHEN WE TALK ABOUT THIS WE'RE 307 00:11:36,000 --> 00:11:38,960 TALKING OVER 10,000 DISEASES 308 00:11:38,960 --> 00:11:40,480 AFFECTING 30 MILLION TO 40 309 00:11:40,480 --> 00:11:42,560 MILLION IN THE U.S. AND OVER 350 310 00:11:42,560 --> 00:11:44,240 MILLION WORLDWIDE WITH AN 311 00:11:44,240 --> 00:11:47,120 ECONOMIC BURDEN OF OVER $400 312 00:11:47,120 --> 00:11:49,480 BILLION IN MEDICAL CARE COSTS 313 00:11:49,480 --> 00:11:51,840 PER YEAR AND UPWARDS OF $1 314 00:11:51,840 --> 00:11:53,760 TRILLION IN MEDICAL AND 315 00:11:53,760 --> 00:11:56,880 NON-MEDICAL COSTS PER YEAR. 316 00:11:56,880 --> 00:12:00,720 RARE DISEASES ARE A PUBLIC 317 00:12:00,720 --> 00:12:01,320 HEALTH CHALLENGE. 318 00:12:01,320 --> 00:12:02,920 THAT SAID, WHAT WE'RE DOING IS 319 00:12:02,920 --> 00:12:03,320 WORKING. 320 00:12:03,320 --> 00:12:05,320 OF COURSE WE HAVE MORE WORK TO 321 00:12:05,320 --> 00:12:07,440 DO SO I WANT TO TALK ABOUT A FEW 322 00:12:07,440 --> 00:12:09,320 THINGS ABOUT THAT AND WHAT I 323 00:12:09,320 --> 00:12:12,760 HOPE YOU'LL GLEAN FROM THIS DAY. 324 00:12:12,760 --> 00:12:16,200 ESPECIALLY AS THIS DAY IS ABOUT 325 00:12:16,200 --> 00:12:18,240 PAUSING TO REMEMBER LOVED ONES 326 00:12:18,240 --> 00:12:19,240 WE'VE LOST. 327 00:12:19,240 --> 00:12:21,520 TO CELEBRATE THE BIG AND SMALL 328 00:12:21,520 --> 00:12:23,120 WINS. 329 00:12:23,120 --> 00:12:25,320 TO SUPPORT THOSE WHO WORKED 330 00:12:25,320 --> 00:12:26,200 TIRELESSLY CARING FOR PEOPLE 331 00:12:26,200 --> 00:12:29,520 WITH RARE DISEASES AND TO HONOR 332 00:12:29,520 --> 00:12:31,480 ALL PEOPLE WITH RARE DISEASE AND 333 00:12:31,480 --> 00:12:33,000 RECOGNIZE THAT STRUGGLE AND TO 334 00:12:33,000 --> 00:12:35,720 HEAR ABOUT NEW IDEAS AND 335 00:12:35,720 --> 00:12:37,080 PROJECTS THAT SPELL HOPE. 336 00:12:37,080 --> 00:12:40,240 WE PAUSE ON THIS DAY SO WE CAN 337 00:12:40,240 --> 00:12:43,040 SPEED UP IN THE NEXT DAYS. 338 00:12:43,040 --> 00:12:45,000 AND THERE HAVE BEEN INCREDIBLE 339 00:12:45,000 --> 00:12:48,200 ADVANCES THROUGH ADVOCACY, 340 00:12:48,200 --> 00:12:49,800 THROUGH CONGRESSIONAL LEADERSHIP 341 00:12:49,800 --> 00:12:52,440 THAT HAVE SAVED THOUSANDS OF 342 00:12:52,440 --> 00:12:52,840 LIVES. 343 00:12:52,840 --> 00:12:55,640 THINGS LIKE THE ORPHAN DRUG ACT 344 00:12:55,640 --> 00:12:58,440 AND NEWBORN SCREENING ACT SAVES 345 00:12:58,440 --> 00:12:58,640 LIVES. 346 00:12:58,640 --> 00:13:00,240 THESE HAVE ALL CONTRIBUTED TO 347 00:13:00,240 --> 00:13:01,920 THE SAVING LIVES OF RARE 348 00:13:01,920 --> 00:13:02,280 DISEASES. 349 00:13:02,280 --> 00:13:05,000 AND THE DRAMATIC RISE IN OVER 350 00:13:05,000 --> 00:13:07,360 ALL ORPHAN DESIGNATIONS OVER THE 351 00:13:07,360 --> 00:13:08,800 PAST 40 YEARS SUGGEST WE'LL 352 00:13:08,800 --> 00:13:10,480 CONTINUE TO SEE AN UPWARD TRA 353 00:13:10,480 --> 00:13:14,760 JECT ARE -- TRAJECTORY IN THE 354 00:13:14,760 --> 00:13:16,440 COMING DECADES TOO. 355 00:13:16,440 --> 00:13:18,080 BUT WE SHOULDN'T BE COMPLACENT 356 00:13:18,080 --> 00:13:18,720 AND WE'RE NOT. 357 00:13:18,720 --> 00:13:20,680 MORE HELP IS ON THE WAY. 358 00:13:20,680 --> 00:13:22,440 PETER MARKS HEAD OF THE FDA 359 00:13:22,440 --> 00:13:24,200 CENTER FOR BIOLOGICS AND 360 00:13:24,200 --> 00:13:25,800 RESEARCH SAID AT A CONFERENCE A 361 00:13:25,800 --> 00:13:28,920 COUPLE DAYS AGO HE ENVISIONS THE 362 00:13:28,920 --> 00:13:30,800 NEXT GENERATION OF OPERATION 363 00:13:30,800 --> 00:13:32,240 WARP SPEED IT TAKE AIM AT RARE 364 00:13:32,240 --> 00:13:33,240 DISEASES. 365 00:13:33,240 --> 00:13:36,760 HE SAID HE'S GEARING UP FOR A 366 00:13:36,760 --> 00:13:38,080 PILOT PROGRAM TO CONSIDER 367 00:13:38,080 --> 00:13:40,120 BREAKTHROUGHS OR ADVANCED 368 00:13:40,120 --> 00:13:42,000 THERAPY DESIGNATIONS FOR 369 00:13:42,000 --> 00:13:44,000 THERAPEUTICS THAT HAVE PROMISE. 370 00:13:44,000 --> 00:13:46,960 THIS WILL ALLOW FASTER CLINICAL 371 00:13:46,960 --> 00:13:48,320 DEVELOPMENT WITH MORE REAL TIME 372 00:13:48,320 --> 00:13:50,640 FDA SPONSORED COMMUNICATIONS ON 373 00:13:50,640 --> 00:13:51,840 SHARING POTENTIAL RESULTS WHICH 374 00:13:51,840 --> 00:13:56,240 ALL CAN ULTIMATELY MOVE PRODUCTS 375 00:13:56,240 --> 00:13:58,440 AS FAST AS POSSIBLE THROUGH THE 376 00:13:58,440 --> 00:13:59,080 REGULATORY PIPELINE. 377 00:13:59,080 --> 00:14:00,840 AT NCATS WE'RE ALSO PUSHING 378 00:14:00,840 --> 00:14:01,280 BOUNDARIES. 379 00:14:01,280 --> 00:14:02,720 WE USE APPROACHES OF ADDRESSING 380 00:14:02,720 --> 00:14:05,520 MORE THAN ONE DISEASE AT A TIME, 381 00:14:05,520 --> 00:14:06,640 DEVELOPING PLATFORM-BASED 382 00:14:06,640 --> 00:14:07,760 TECHNOLOGIES TO ADVANCE THE 383 00:14:07,760 --> 00:14:10,480 SCIENCE OF ENABLING MORE 384 00:14:10,480 --> 00:14:12,120 TREATMENTS FASTER. 385 00:14:12,120 --> 00:14:14,880 ONE CASE IN POINT, IN THIS SLIDE 386 00:14:14,880 --> 00:14:19,960 IS THE RECENT DEVELOPMENT OF A 387 00:14:19,960 --> 00:14:21,320 GENE THERAPY. 388 00:14:21,320 --> 00:14:23,840 ALSO KNOWN AS AADC. 389 00:14:23,840 --> 00:14:26,160 THIS RARE DISEASE CAUSES 390 00:14:26,160 --> 00:14:28,240 PROFOUND NEURO DEVELOPMENTAL 391 00:14:28,240 --> 00:14:31,800 FAILURE WITH A LIFE EXPECTANCY 392 00:14:31,800 --> 00:14:35,320 OF 4 TO 8 AND WE LOOKED AT 393 00:14:35,320 --> 00:14:38,480 STUDIES WE HOPE WE'LL SEE BLA 394 00:14:38,480 --> 00:14:39,640 APPROVAL SOON. 395 00:14:39,640 --> 00:14:41,840 PTC THERAPEUTICS ACQUIRED THE 396 00:14:41,840 --> 00:14:43,040 WORK AND RECEIVED EUROPEAN 397 00:14:43,040 --> 00:14:45,720 COMMISSION APPROVAL LAST SUMMER 398 00:14:45,720 --> 00:14:47,280 AND CAN NOW DELIVERING THE GENE 399 00:14:47,280 --> 00:14:49,720 THERAPY TO RESTORE DEFICIENT 400 00:14:49,720 --> 00:14:51,240 LEVELS OF KEY NEURO 401 00:14:51,240 --> 00:14:52,240 TRANSMITTERS. 402 00:14:52,240 --> 00:14:54,400 THIS REPRESENTS THE FIRST GENE 403 00:14:54,400 --> 00:14:56,240 THERAPY DELIVERED DIRECTLY TO 404 00:14:56,240 --> 00:14:57,960 THE BRAIN. 405 00:14:57,960 --> 00:15:00,400 THROUGH THIS PROJECT WE LEARNED 406 00:15:00,400 --> 00:15:02,640 A LOT ABOUT COMPLEXITY AND COST, 407 00:15:02,640 --> 00:15:05,200 MANUFACTURING AND DELIVERY 408 00:15:05,200 --> 00:15:06,920 BARRIERS THAT ARE NOW WE'RE 409 00:15:06,920 --> 00:15:09,040 GOING TO BE ABLE TO APPLY THOSE 410 00:15:09,040 --> 00:15:10,480 TO DEVELOPING OTHER THERAPIES 411 00:15:10,480 --> 00:15:12,120 AND MOVE THAT APPROACH AT SCALE. 412 00:15:12,120 --> 00:15:14,800 THAT'S WHAT TRANSLATIONAL 413 00:15:14,800 --> 00:15:16,040 SCIENCE IS ALL ABOUT. 414 00:15:16,040 --> 00:15:17,720 THESE LESSONS IMPACT OUR WORK IN 415 00:15:17,720 --> 00:15:19,760 THE PLATFORM VECTOR GENE THERAPY 416 00:15:19,760 --> 00:15:21,120 PILOT PROGRAM YOU'LL HEAR ABOUT LATER TODAY 417 00:15:21,120 --> 00:15:22,520 AND THE ACCELERATED MEDICINES 418 00:15:22,520 --> 00:15:24,680 BESPOKE GENE THERAPY CONSORTIUM 419 00:15:24,680 --> 00:15:27,520 THAT HAS A BOOTH OUT THERE IN THE BACK 420 00:15:27,520 --> 00:15:31,280 SO THE BGTC PROGRAM IS 421 00:15:31,280 --> 00:15:32,480 STREAMLINING THE REGULATORY 422 00:15:32,480 --> 00:15:34,160 PROCESSES AND FACILITATE 423 00:15:34,160 --> 00:15:36,600 COST-EFFICIENT AND HIGH-QUALITY 424 00:15:36,600 --> 00:15:38,000 AAV PRODUCTION TO INCREASE 425 00:15:38,000 --> 00:15:38,600 ACCESS FOR PATIENTS WITH RARE 426 00:15:38,600 --> 00:15:40,240 DISEASES. 427 00:15:40,240 --> 00:15:42,200 THESE APPROACHES CAN BE APPLIED 428 00:15:42,200 --> 00:15:44,160 TO OTHER TREATMENT MODALITIES 429 00:15:44,160 --> 00:15:48,600 LIKE GENE EDITING AND NUCLEOTIDE 430 00:15:48,600 --> 00:15:49,960 THERAPIES AND AS WE START TO 431 00:15:49,960 --> 00:15:51,320 TRANSITION TO MORE AND MORE 432 00:15:51,320 --> 00:15:53,800 PRECISION TARGET THERAPIES THESE 433 00:15:53,800 --> 00:15:56,400 CAN BE ENABLED BY THESE KINDS OF 434 00:15:56,400 --> 00:15:57,640 PLATFORM-BASED APPROACHES WE'RE 435 00:15:57,640 --> 00:15:58,080 WORKING ON. 436 00:15:58,080 --> 00:16:00,680 AND NOW THAT WE'VE MADE THE CASE 437 00:16:00,680 --> 00:16:02,360 THAT RARE DISEASES ARE A PUBLIC 438 00:16:02,360 --> 00:16:04,720 HEALTH CHALLENGE, WHAT ARE WE 439 00:16:04,720 --> 00:16:06,240 GOING TO DO NEXT? 440 00:16:06,240 --> 00:16:07,000 NCATS HAS OTHER EFFORTS 441 00:16:07,000 --> 00:16:14,000 INCLUDING INFORMATICS AND 442 00:16:14,000 --> 00:16:15,320 EMPHASIS ON DEI AND BELONGING. 443 00:16:15,320 --> 00:16:17,440 IT'S ABOUT MORE TREATMENTS FOR 444 00:16:17,440 --> 00:16:19,040 ALL PEOPLE MORE QUICKLY. 445 00:16:19,040 --> 00:16:22,280 AND WE HAVE A SESSION COMING UP 446 00:16:22,280 --> 00:16:25,840 ON GUARD AND RARE SOURCE AND 447 00:16:25,840 --> 00:16:28,800 RARE DISEASE ALEFT SYSTEMS AND 448 00:16:28,800 --> 00:16:31,200 WE'LL TALK ABOUT MODERNIZATION 449 00:16:31,200 --> 00:16:36,800 SYSTEMS TO MAKE IT MORE 450 00:16:36,800 --> 00:16:40,800 ACCESSIBLE FOR PATIENTS AND 451 00:16:40,800 --> 00:16:43,000 ENHANCING COLLECTION OF RARE 452 00:16:43,000 --> 00:16:44,720 DISEASE PATIENT DATA AND EXPAND 453 00:16:44,720 --> 00:16:46,720 PATIENT ACCESS TO ADVANCE 454 00:16:46,720 --> 00:16:48,760 DIAGNOSTICS AND SUPPORT 455 00:16:48,760 --> 00:16:50,120 REGISTRIES AND ENHANCE 456 00:16:50,120 --> 00:16:50,640 ELECTRONIC HEALTH RECORD 457 00:16:50,640 --> 00:16:53,400 STRUCTURE TO FACILITATE RESEARCH 458 00:16:53,400 --> 00:17:00,360 AND IMPROVE DIAGNOSES IN VARIOUS 459 00:17:00,360 --> 00:17:01,640 HEALTH CARE SETTINGS. 460 00:17:01,640 --> 00:17:04,280 SO THERE'S A LOT GOING ON AND 461 00:17:04,280 --> 00:17:05,600 LOOKING FORWARD TO MORE AND IF 462 00:17:05,600 --> 00:17:08,080 YOU WANT REFRESHERS ABOUT THE 463 00:17:08,080 --> 00:17:10,760 WORK CHECK OUT THE LANDING PAGE 464 00:17:10,760 --> 00:17:12,120 OR ACCESS THE QR CODE THAT WILL 465 00:17:12,120 --> 00:17:13,520 TAKE YOU TO INFORMATION AND 466 00:17:13,520 --> 00:17:15,160 RESOURCES FOR RESEARCHERS, 467 00:17:15,160 --> 00:17:15,760 PATIENTS AND PATIENT ADVOCACY 468 00:17:15,760 --> 00:17:19,000 GROUPS. 469 00:17:19,000 --> 00:17:20,760 AND FINALLY I'D LIKE TO SAY A 470 00:17:20,760 --> 00:17:23,360 FEW THANK YOUS. 471 00:17:23,360 --> 00:17:25,440 FIRST AND FOREMOST TO ALICE 472 00:17:25,440 --> 00:17:31,800 CHEN, GRADY, AINSLIE TISDALE AND 473 00:17:31,800 --> 00:17:33,320 EVERYONE A PART OF THE TEAMS 474 00:17:33,320 --> 00:17:34,760 LISTED ON THE SLIDE FOR THEIR 475 00:17:34,760 --> 00:17:35,680 PLANNING OF THIS EVENT. 476 00:17:35,680 --> 00:17:37,560 THIS HAS BEEN ESPECIALLY 477 00:17:37,560 --> 00:17:39,400 CHALLENGING AFTER THREE YEARS TO 478 00:17:39,400 --> 00:17:40,800 COME IN PERSON AND HYBRID AND I 479 00:17:40,800 --> 00:17:42,640 APPRECIATE ALL THE WORK YOU'VE 480 00:17:42,640 --> 00:17:44,200 DONE. 481 00:17:44,200 --> 00:17:45,520 YOU'VE PULLED TOGETHER AN AGENDA 482 00:17:45,520 --> 00:17:46,560 THAT'S PACKED AND EXCITING. 483 00:17:46,560 --> 00:17:52,680 THANK YOU SO MUCH FOR BRINGING 484 00:17:52,680 --> 00:17:58,800 IT ALL TOGETHER. 485 00:17:58,800 --> 00:18:00,960 AND THANKS TO ALL OF YOU AND THE 486 00:18:00,960 --> 00:18:02,920 SPEAKERS AND ATTENDEES AND 487 00:18:02,920 --> 00:18:05,040 JOINING US AND SHARING YOUR 488 00:18:05,040 --> 00:18:08,240 POSTERS, DISPLAYING YOUR ART, 489 00:18:08,240 --> 00:18:09,520 WEARING YOUR COLORS AND SHOWING 490 00:18:09,520 --> 00:18:12,800 YOUR STRIPES EVEN WHEN THEY'RE 491 00:18:12,800 --> 00:18:18,400 ON YOUR COWBOY BOOTS. 492 00:18:18,400 --> 00:18:20,680 SO YOUR JOB NOW IS TO USE THE 493 00:18:20,680 --> 00:18:22,360 MEETING TO FIND NEW WAYS TO HELP 494 00:18:22,360 --> 00:18:24,600 ADVANCE THE RARE DISEASES WORK 495 00:18:24,600 --> 00:18:25,600 WE ALL DO TOGETHER. 496 00:18:25,600 --> 00:18:27,080 AND WITH THAT, SPEAKING OF DOING 497 00:18:27,080 --> 00:18:28,160 WORK TOGETHER IN A GREAT 498 00:18:28,160 --> 00:18:30,920 COLLEAGUE, I'D LIKE TO INTRODUCE 499 00:18:30,920 --> 00:18:33,800 JIM GILMAN THE CEO OF THE 500 00:18:33,800 --> 00:18:35,000 CLINICAL CENTER AT THE NIH WHO 501 00:18:35,000 --> 00:18:38,840 IS OUR CO-SPONSOR FOR THIS 502 00:18:38,840 --> 00:18:40,120 ANNUAL EVENT ON RARE DISEASE 503 00:18:40,120 --> 00:18:41,640 RARE DISEASE DAY AT THE NIH. 504 00:18:41,640 --> 00:18:43,280 AND ALSO A DEAR COLLEAGUE. 505 00:18:43,280 --> 00:18:44,800 DR. GILMAN, PLEASE COME TO THE 506 00:18:44,800 --> 00:18:53,040 STAGE. 507 00:18:53,040 --> 00:18:54,280 >> THANKS, JONI. 508 00:18:54,280 --> 00:18:55,600 GOOD MORNING AND WELCOME. 509 00:18:55,600 --> 00:18:57,440 I WANT TO START BY THANKING ALL 510 00:18:57,440 --> 00:18:59,080 OF YOU FOR BEING HERE AND 511 00:18:59,080 --> 00:19:00,360 SPECIAL THANKS TO JONI RUTTER 512 00:19:00,360 --> 00:19:03,720 AND THE FOLKS AT NCATS FOR 513 00:19:03,720 --> 00:19:05,160 PARTNERING WITH THE NIH CLINICAL 514 00:19:05,160 --> 00:19:06,320 CENTER IN THIS FORM AGAIN THIS 515 00:19:06,320 --> 00:19:09,000 YEAR. 516 00:19:09,000 --> 00:19:11,280 THIS IS ACTUALLY ONE OF THE VERY 517 00:19:11,280 --> 00:19:14,720 FEW TIMES I'VE BEEN PHYSICALLY 518 00:19:14,720 --> 00:19:16,880 PRESENT IN NATCHER HERE AT THE 519 00:19:16,880 --> 00:19:18,960 AUDITORIUM SINCE THE START OF 520 00:19:18,960 --> 00:19:19,600 THE PANDEMIC. 521 00:19:19,600 --> 00:19:22,520 WITH ALL DUE RESPECT TO MY 522 00:19:22,520 --> 00:19:23,280 INFORMATION TECHNOLOGY 523 00:19:23,280 --> 00:19:24,720 COLLEAGUES WHO ENABLED OUR 524 00:19:24,720 --> 00:19:27,040 OPERATIONS DURING THE LAST THREE 525 00:19:27,040 --> 00:19:29,800 YEARS THERE ARE SOME OCCASIONS 526 00:19:29,800 --> 00:19:33,440 WHEN PRESENCE AND PHYSICAL 527 00:19:33,440 --> 00:19:35,360 PROXIMITY TO LIKE-MINDED PEOPLE 528 00:19:35,360 --> 00:19:37,360 ARE REALLY IMPORTANT. 529 00:19:37,360 --> 00:19:38,480 FOR US RARE DISEASE DAY IS ONE 530 00:19:38,480 --> 00:19:41,680 OF THOSE SPECIAL OCCASIONS. 531 00:19:41,680 --> 00:19:44,280 THE ECO SYSTEM CONDUCIVE TO 532 00:19:44,280 --> 00:19:48,680 PROGRESS IN THE FIGHT AGAINST 533 00:19:48,680 --> 00:19:49,320 RARE DISEASES IS COMPLEX. 534 00:19:49,320 --> 00:19:52,680 IT INCLUDES SCIENTISTS AND 535 00:19:52,680 --> 00:19:55,920 CLINICIANS SEARCHING FOR A CURE. 536 00:19:55,920 --> 00:19:58,560 ADVOCACY ORGANIZATIONS, PATIENTS 537 00:19:58,560 --> 00:20:00,920 AND FAMILIES SUFFERING WITH THE 538 00:20:00,920 --> 00:20:03,760 DISEASES AND POLICY MAKERS AND 539 00:20:03,760 --> 00:20:05,560 ELECTED LEADERS WHO OFTEN HELP 540 00:20:05,560 --> 00:20:10,640 UNDER WRITE THE BASIC RESEARCH 541 00:20:10,640 --> 00:20:11,480 AND CLINICAL TRIALS. 542 00:20:11,480 --> 00:20:13,320 RARE DISEASE DAY IS UNIQUE IN 543 00:20:13,320 --> 00:20:14,240 THAT IT BRINGS ALL THE 544 00:20:14,240 --> 00:20:15,920 COMPONENTS OF THIS ECO SYSTEM IN 545 00:20:15,920 --> 00:20:18,280 THE SAME ORBIT FOR AT LEAST A 546 00:20:18,280 --> 00:20:20,680 BRIEF PERIOD OF TIME. 547 00:20:20,680 --> 00:20:23,760 IT IS A REMINDER OF WHY WE ARE 548 00:20:23,760 --> 00:20:25,480 ALL IN THIS WORK AND A REMINDER 549 00:20:25,480 --> 00:20:28,680 THAT NONE OF US ARE IN THIS WORK 550 00:20:28,680 --> 00:20:29,240 ALONE. 551 00:20:29,240 --> 00:20:33,520 IT'S A DAY WHEN THE HEAD 552 00:20:33,520 --> 00:20:34,480 ACQUIRES NEW INFORMATION AND 553 00:20:34,480 --> 00:20:35,640 KNOWLEDGE BUT IS ALSO A DAY WHEN 554 00:20:35,640 --> 00:20:38,120 THE HEART RENEWS HOPE AND FINDS 555 00:20:38,120 --> 00:20:46,400 SOURCES OF NEW INSPIRATION. 556 00:20:46,400 --> 00:20:47,920 WHILE THE PATIENT CENSUS HAS 557 00:20:47,920 --> 00:20:48,720 BEEN LOWER DURING THE PANDEMIC 558 00:20:48,720 --> 00:20:50,880 WE HAVE NOT BEEN IDLE OR 559 00:20:50,880 --> 00:20:51,240 COMPLACENT. 560 00:20:51,240 --> 00:20:53,840 WE HAVE INCREASED OUR EMERGENCY 561 00:20:53,840 --> 00:20:55,280 RESPONSE CAPABILITIES FOR ALL 562 00:20:55,280 --> 00:20:57,400 PATIENTS AND TAKEN A NUMBER OF 563 00:20:57,400 --> 00:20:59,480 STEPS PARTICULARLY TO IMPROVE 564 00:20:59,480 --> 00:21:00,680 THE ORGANIZATION OF CLINICAL 565 00:21:00,680 --> 00:21:01,320 RESOURCES USED FOR THE CARE OF 566 00:21:01,320 --> 00:21:04,280 CHILDREN. 567 00:21:04,280 --> 00:21:06,920 TWO YEARS AGO WE PROVIDED CARE 568 00:21:06,920 --> 00:21:08,480 FOR TWO INFANTS PARTICIPATING IN 569 00:21:08,480 --> 00:21:09,680 A GENE THERAPY TRIAL. 570 00:21:09,680 --> 00:21:12,680 THE FIRST TWO INFANTS CARED FOR 571 00:21:12,680 --> 00:21:14,480 IN THE CLINICAL CENTER IN QUITE 572 00:21:14,480 --> 00:21:15,200 SOME TIME. 573 00:21:15,200 --> 00:21:17,720 A SUBSTANTIAL PORTION OF THE 574 00:21:17,720 --> 00:21:21,240 CLINICAL CENTER STAFF SPENT SIX 575 00:21:21,240 --> 00:21:23,800 MONTHS GETTING READY INCLUDING 576 00:21:23,800 --> 00:21:25,440 DIDACTIC AND SIMULATION 577 00:21:25,440 --> 00:21:25,680 TRAINING. 578 00:21:25,680 --> 00:21:27,360 WE'RE PROUD OF THAT EFFORT AND 579 00:21:27,360 --> 00:21:28,720 WANT TO DO MORE WORK LIKE IT IN 580 00:21:28,720 --> 00:21:29,200 THE FUTURE. 581 00:21:29,200 --> 00:21:30,840 THROUGH A PARTNERSHIP WITH 582 00:21:30,840 --> 00:21:31,920 CHILDREN'S NATIONAL HOSPITAL, 583 00:21:31,920 --> 00:21:34,920 THE CARE OF CHILDREN IN OUR ICU 584 00:21:34,920 --> 00:21:37,720 IS NOW PROVIDED BY PEDIATRIC 585 00:21:37,720 --> 00:21:38,040 INTENSIVISTS. 586 00:21:38,040 --> 00:21:41,720 OUR HOPE IS TO ENABLE CLINICAL 587 00:21:41,720 --> 00:21:42,680 TRIALS IN SMALLER CHILDREN 588 00:21:42,680 --> 00:21:44,800 ROUTINELY AND ENGAGED A NUMBER 589 00:21:44,800 --> 00:21:47,240 OF PEDIATRIC THOUGHT LEADERS IN 590 00:21:47,240 --> 00:21:48,280 THE EXTRAMURAL COMMUNITY TO 591 00:21:48,280 --> 00:21:50,200 ADVISE US IN THESE EFFORTS. 592 00:21:50,200 --> 00:21:53,640 IF YOU ARE TO REMAIN THE WORLD'S 593 00:21:53,640 --> 00:21:54,600 FOREMOST CLINICAL RESEARCH 594 00:21:54,600 --> 00:21:59,640 CENTER WITH A FOCUS ON RARE 595 00:21:59,640 --> 00:22:00,640 DISEASES, IT'S TIME TO MOVE 596 00:22:00,640 --> 00:22:03,480 BEYOND NATURAL HISTORY STUDIES 597 00:22:03,480 --> 00:22:05,320 AND COMMIT TO EARLY IN HUMAN 598 00:22:05,320 --> 00:22:05,680 CLINICAL TRIALS. 599 00:22:05,680 --> 00:22:08,080 LAST SUMMER WE OPENED NEW 600 00:22:08,080 --> 00:22:10,120 OUT-PATIENT AND IN-PATIENT 601 00:22:10,120 --> 00:22:12,640 SECTIONS OF OUR PHARMACY AND WE 602 00:22:12,640 --> 00:22:15,320 EXPECT TO OPEN THE NEW STATE OF 603 00:22:15,320 --> 00:22:18,760 THE ART INTRAVENOUS AD MIXTURE 604 00:22:18,760 --> 00:22:20,040 ROOM LATER THIS YEAR. 605 00:22:20,040 --> 00:22:21,360 IN A FEW DAYS CONSTRUCTION 606 00:22:21,360 --> 00:22:27,240 BEGINS ON A NEW WING FOR THE 607 00:22:27,240 --> 00:22:29,000 CLINICAL CENTER TO HOUSE 608 00:22:29,000 --> 00:22:31,240 SURGERY, RADIOLOGY AND MEDICINE. 609 00:22:31,240 --> 00:22:33,240 YOU'RE FORTUNATE YOU JUST MISSED 610 00:22:33,240 --> 00:22:36,000 THE CHANGES AND TRAFFIC PATTERNS 611 00:22:36,000 --> 00:22:39,760 AND PARKING LOCATIONS THIS MAJOR 612 00:22:39,760 --> 00:22:41,120 CONSTRUCTION EFFORT REQUIRES. 613 00:22:41,120 --> 00:22:43,680 THE NEW WING WILL NOT COME 614 00:22:43,680 --> 00:22:46,320 ONLINE UNTIL 2028. 615 00:22:46,320 --> 00:22:48,040 WE HAVE YEARS OF INCONVENIENCE 616 00:22:48,040 --> 00:22:51,520 AHEAD OF US BUT IT'S NECESSARY 617 00:22:51,520 --> 00:22:54,960 INCONVENIENCE AS WE UPGRADE AND 618 00:22:54,960 --> 00:22:56,760 MODERNIZE THE CLINICAL CENTER. 619 00:22:56,760 --> 00:22:58,800 THE NATIONAL CANCER INSTITUTE 620 00:22:58,800 --> 00:23:00,400 AND THE NATIONAL HEART, LUNG AND 621 00:23:00,400 --> 00:23:02,600 BLOOD INSTITUTE WILL OCCUPY 622 00:23:02,600 --> 00:23:03,320 PORTIONS OF THIS NEW 623 00:23:03,320 --> 00:23:04,240 CONSTRUCTION AS WELL. 624 00:23:04,240 --> 00:23:06,440 THERE ARE A NUMBER OF SMALLER 625 00:23:06,440 --> 00:23:07,080 PROJECTS IN THE CLINICAL CENTER 626 00:23:07,080 --> 00:23:09,080 ALSO. 627 00:23:09,080 --> 00:23:10,880 THE NEW WING AND OTHER PROJECTS 628 00:23:10,880 --> 00:23:14,360 REPRESENT THE HARD WORK OF MANY 629 00:23:14,360 --> 00:23:16,680 PEOPLE INCLUDING ADVOCATES AND 630 00:23:16,680 --> 00:23:17,160 POLICY MAKERS. 631 00:23:17,160 --> 00:23:20,080 COMMITTED TO THE MANTRA THAT 632 00:23:20,080 --> 00:23:20,680 WORLD CLASS RESEARCH REQUIRES 633 00:23:20,680 --> 00:23:22,920 WORLD CLASS INFRASTRUCTURE. 634 00:23:22,920 --> 00:23:27,120 I WANT TO CLOSE AS I BEGAN 635 00:23:27,120 --> 00:23:30,520 WELCOMING YOU ONCE AGAIN TO THE 636 00:23:30,520 --> 00:23:31,480 NIH CAMPUS. 637 00:23:31,480 --> 00:23:32,680 BY THE WAY, THE NIH CLINICAL 638 00:23:32,680 --> 00:23:36,000 CENTER HAS NO RESTRICTIONS ON 639 00:23:36,000 --> 00:23:38,920 VISITORS AND IF YOU WANT TO PAY 640 00:23:38,920 --> 00:23:40,240 US A VISIT PLEASE DO SO. 641 00:23:40,240 --> 00:23:42,440 WE ASK YOU MAYBE NOT ALL GO TO 642 00:23:42,440 --> 00:23:44,680 THE COFFEE LINE AT THE SAME TIME 643 00:23:44,680 --> 00:23:45,480 THOUGH. 644 00:23:45,480 --> 00:23:47,680 I'D ENCOURAGE YOU TO TAKE FULL 645 00:23:47,680 --> 00:23:49,040 ADVANTAGE OF THE DAY TO BECOME 646 00:23:49,040 --> 00:23:51,960 MORE UP TO DATE, BETTER INFORMED 647 00:23:51,960 --> 00:23:53,200 AND MORE COMMITTED TO THE FIGHT 648 00:23:53,200 --> 00:23:55,000 AGAINST RARE DISEASES. 649 00:23:55,000 --> 00:24:02,160 THANK YOU. 650 00:24:02,160 --> 00:24:02,680 >> OKAY. 651 00:24:02,680 --> 00:24:05,520 AND NOW I'M GOING TO INTRODUCE A 652 00:24:05,520 --> 00:24:10,080 SERIES OF VIDEOS FOR WELCOMING 653 00:24:10,080 --> 00:24:12,680 REMARKS FROM OTHER FOLKS ON 654 00:24:12,680 --> 00:24:15,240 CAMPUS IN FACT OUR LEADER IN 655 00:24:15,240 --> 00:24:17,160 DR. LARRY TABAK WHO HAS BEEN 656 00:24:17,160 --> 00:24:20,000 PERFORMING THE DUTIES OF THE 657 00:24:20,000 --> 00:24:20,800 DIRECTOR OF NIH SINCE DECEMBER 658 00:24:20,800 --> 00:24:24,400 20, 2021. 659 00:24:24,400 --> 00:24:27,440 PREVIOUSLY FOR MORE THAN 11 660 00:24:27,440 --> 00:24:30,440 YEARS HE SERVED AS THE DEPUTY 661 00:24:30,440 --> 00:24:32,000 ETHICS COUNSELOR AND PRIOR TO 662 00:24:32,000 --> 00:24:33,360 THAT FOR 10 YEARS WAS THE 663 00:24:33,360 --> 00:24:34,080 DIRECTOR OF THE NATIONAL 664 00:24:34,080 --> 00:24:37,800 INSTITUTE OF DENTAL AND 665 00:24:37,800 --> 00:24:38,360 CRANIOFACIAL RESEARCH. 666 00:24:38,360 --> 00:24:40,880 BEFORE JOINING NIH HE WAS A 667 00:24:40,880 --> 00:24:41,920 PROFESSOR AND SENIOR ASSOCIATE 668 00:24:41,920 --> 00:24:44,120 DEAN AT THE UNIVERSITY OF 669 00:24:44,120 --> 00:24:44,640 ROCHESTER IN NEW YORK. 670 00:24:44,640 --> 00:24:48,400 HE'S TRAINED AS A DOCTOR OF 671 00:24:48,400 --> 00:24:54,120 DENTAL SURGERY WITH A Ph.D. IN 672 00:24:54,120 --> 00:25:00,320 ENDODONTICS AND 673 00:25:00,320 --> 00:25:03,520 NOW I'D LIKE TO WELCOME THE 674 00:25:03,520 --> 00:25:08,480 VIDEO OF DR. TABAK. 675 00:25:08,480 --> 00:25:11,080 >> WELCOME TO THE 2023 RARE 676 00:25:11,080 --> 00:25:11,400 DISEASE DAY. 677 00:25:11,400 --> 00:25:13,320 THANK YOU DR. ARE RUTTER AND 678 00:25:13,320 --> 00:25:14,920 GILMAN FOR THE WORK YOU AND YOUR 679 00:25:14,920 --> 00:25:16,480 COLLEAGUES DO AT THE NATIONAL 680 00:25:16,480 --> 00:25:17,920 CENTER FOR ADVANCING 681 00:25:17,920 --> 00:25:21,040 TRANSLATIONAL SCIENCES AND THE 682 00:25:21,040 --> 00:25:24,520 NIH CLINICAL CENTER TO BETTER 683 00:25:24,520 --> 00:25:26,400 UNDERSTAND AND TREAT THE 684 00:25:26,400 --> 00:25:27,160 ENORMOUSLY WIDE RANGING 685 00:25:27,160 --> 00:25:29,040 CONDITIONS CAUSED BY RARE 686 00:25:29,040 --> 00:25:30,560 DISEASES. 687 00:25:30,560 --> 00:25:32,920 A COUPLE WEEKS AGO I WAS PLEASED 688 00:25:32,920 --> 00:25:36,680 TO HOST AN ARTICLE ON THE NIH 689 00:25:36,680 --> 00:25:41,040 DIRECTOR'S BLOG ON RARE DISEASES 690 00:25:41,040 --> 00:25:41,400 FROM DR. RUTTER. 691 00:25:41,400 --> 00:25:44,040 AS SHE POINTED OUT, MORE THAN 692 00:25:44,040 --> 00:25:48,480 10,000 RARE DISEASES AFFECT MORE 693 00:25:48,480 --> 00:25:51,440 THAN 30 MILLION PEOPLE IN THE 694 00:25:51,440 --> 00:25:53,360 UNITED STATES AND NEARLY 400 695 00:25:53,360 --> 00:25:55,640 MILLION PEOPLE WORLDWIDE. 696 00:25:55,640 --> 00:25:57,560 COLLECTIVELY, THESE TOTALS DWARF 697 00:25:57,560 --> 00:26:02,240 THE NUMBERS AFFECTED BY MANY 698 00:26:02,240 --> 00:26:03,000 COMMON DISEASES. 699 00:26:03,000 --> 00:26:05,840 PEOPLE WITH RARE DISEASES OFTEN 700 00:26:05,840 --> 00:26:10,600 STRUGGLE FOR YEARS TO RECEIVE AN 701 00:26:10,600 --> 00:26:12,520 ACCURATE DIAGNOSIS AND WHEN THEY 702 00:26:12,520 --> 00:26:13,880 DO FEW FIND THEY HAVE TREATMENTS 703 00:26:13,880 --> 00:26:17,440 AVAILABLE TO THEM. 704 00:26:17,440 --> 00:26:20,400 A PERSISTENT PROBLEM IS THAT WE 705 00:26:20,400 --> 00:26:23,320 AREN'T VERY GOOD ABOUT TRACKING 706 00:26:23,320 --> 00:26:23,800 RARE DISEASES. 707 00:26:23,800 --> 00:26:26,760 MANY ARE TOO RARE TO EVEN HAVE A 708 00:26:26,760 --> 00:26:31,160 CODE THAT IDENTIFIES THEM IN 709 00:26:31,160 --> 00:26:34,200 ELECTRONIC HEALTH RECORD. 710 00:26:34,200 --> 00:26:35,400 AT NIH WE ARE COMMITTED TO 711 00:26:35,400 --> 00:26:36,720 BUILDING NEW WAYS TO TAKE ON THE 712 00:26:36,720 --> 00:26:42,200 CHALLENGE OF RARE DISEASES. 713 00:26:42,200 --> 00:26:44,800 VIRTUALLY ALL OF THE 27 NIH 714 00:26:44,800 --> 00:26:48,600 INSTITUTES AND CENTERS HAVE SOME 715 00:26:48,600 --> 00:26:49,800 INVESTMENT IN RARE DISEASE 716 00:26:49,800 --> 00:26:53,040 RESEARCH AND 10 INSTITUTES AND 717 00:26:53,040 --> 00:26:55,240 CENTERS PARTICIPATE IN THE RARE 718 00:26:55,240 --> 00:26:56,720 DISEASES CLINICAL RESEARCH 719 00:26:56,720 --> 00:26:59,600 NETWORK WHICH IS LED BY NCATS. 720 00:26:59,600 --> 00:27:02,960 THE NETWORK ALLOWS SCIENTISTS TO 721 00:27:02,960 --> 00:27:05,760 WORK WITH RARE DISEASE 722 00:27:05,760 --> 00:27:06,560 ORGANIZATIONS AND PATIENT 723 00:27:06,560 --> 00:27:09,600 ADVOCACY GROUPS TOWARD A BETTER 724 00:27:09,600 --> 00:27:13,040 UNDERSTANDING OF HOW TO PROCEED 725 00:27:13,040 --> 00:27:14,600 IN OUR RESEARCH EFFORT. 726 00:27:14,600 --> 00:27:17,040 NIH IS COMMITTED TO ADVANCING 727 00:27:17,040 --> 00:27:19,760 RESEARCH ON THERAPEUTICS FOR 728 00:27:19,760 --> 00:27:21,040 RARE DISEASES AND I WANT TO 729 00:27:21,040 --> 00:27:22,280 BRIEFLY TELL YOU ABOUT THREE 730 00:27:22,280 --> 00:27:25,640 PROGRAMS. 731 00:27:25,640 --> 00:27:26,920 ALL THREE EFFORTS TAKE INTO 732 00:27:26,920 --> 00:27:29,040 ACCOUNT THE FACT THAT MISTAKE 733 00:27:29,040 --> 00:27:30,880 RARE DISEASES ARISE FROM A 734 00:27:30,880 --> 00:27:35,160 DEFECT IN A SINGLE GENE SO GENE 735 00:27:35,160 --> 00:27:36,160 THERAPY IS POTENTIALLY A 736 00:27:36,160 --> 00:27:39,480 POWERFUL APPROACH FOR TREATING A 737 00:27:39,480 --> 00:27:42,560 WIDE RANGE OF RARE DISEASES 738 00:27:42,560 --> 00:27:44,000 INCLUDING THOSE CURRENTLY VIEWED 739 00:27:44,000 --> 00:27:45,000 AS TOO RARE FOR COMMERCIAL 740 00:27:45,000 --> 00:27:49,320 DEVELOPMENT. 741 00:27:49,320 --> 00:27:52,680 FIRST, NIH IS INVOLVED IN THE 742 00:27:52,680 --> 00:27:55,400 ACCELERATING MEDICINES 743 00:27:55,400 --> 00:27:58,040 PARTNERSHIP BESPOKE GENE THERAPY 744 00:27:58,040 --> 00:27:58,320 CONSORTIUM. 745 00:27:58,320 --> 00:28:02,440 THE PARTNERSHIP BRINGS TOGETHER 746 00:28:02,440 --> 00:28:05,040 PUBLIC PRIVATE AND NON-PUBLIC 747 00:28:05,040 --> 00:28:06,480 ORGANIZATIONS TO BRING TOGETHER 748 00:28:06,480 --> 00:28:07,400 CUSTOMIZED GENE THERAPIES. 749 00:28:07,400 --> 00:28:12,560 THE EFFORT WAS LAUNCHED IN 750 00:28:12,560 --> 00:28:15,000 OCTOBER 2021 AND AIMS TO 751 00:28:15,000 --> 00:28:17,520 OVERCOME THE OBSTACLES TO CREATE 752 00:28:17,520 --> 00:28:22,640 GENE THERAPIES AND PLANS TO 753 00:28:22,640 --> 00:28:24,800 CREATE A PROTOCOL BOOK TO HELP 754 00:28:24,800 --> 00:28:28,480 MAKE THE PROCESS OF DEVELOPING 755 00:28:28,480 --> 00:28:29,160 GENE THERAPIES FOR RARE 756 00:28:29,160 --> 00:28:37,680 CONDITIONS MUCH MORE EFFICIENT. 757 00:28:37,680 --> 00:28:39,960 SECOND, WE HAVE A PROGRAM WHICH 758 00:28:39,960 --> 00:28:42,600 SUPPORTS HIGH-RISK INNOVATIVE 759 00:28:42,600 --> 00:28:43,400 ENDEAVORS WITH THE POTENTIAL FOR 760 00:28:43,400 --> 00:28:51,680 EXTRAORDINARY IMPACT. 761 00:28:51,680 --> 00:28:54,040 THE PROGRAM IS TO DEVELOP TOOLS 762 00:28:54,040 --> 00:28:56,640 TO PERFORM AND ASSESS GENE 763 00:28:56,640 --> 00:28:57,200 EDITING IN THE CELLS OF THE 764 00:28:57,200 --> 00:29:02,640 BODY. 765 00:29:02,640 --> 00:29:04,960 THE RESEARCH TOOLS THIS PROGRAM 766 00:29:04,960 --> 00:29:05,760 WILL BE MADE AVAILABLE TO THE 767 00:29:05,760 --> 00:29:07,400 RESEARCH COMMUNITY TO REDUCE THE 768 00:29:07,400 --> 00:29:09,040 TIME AND COST OF DEVELOPING NEW 769 00:29:09,040 --> 00:29:13,720 THERAPIES. 770 00:29:13,720 --> 00:29:15,840 LASTLY THE THIRD NIH INITIATIVE 771 00:29:15,840 --> 00:29:18,600 IN THIS AREA IS THE PLATFORM 772 00:29:18,600 --> 00:29:20,800 VECTOR GENE THERAPY PROGRAM. 773 00:29:20,800 --> 00:29:23,440 THE PROGRAM AIMS TO STREAMLINE 774 00:29:23,440 --> 00:29:25,400 THE DEVELOPMENT OF GENE THERAPY 775 00:29:25,400 --> 00:29:28,520 AND CLINICAL TESTING BY USING 776 00:29:28,520 --> 00:29:30,840 THE SAME MANUFACTURING METHOD 777 00:29:30,840 --> 00:29:33,880 AND SAME GENE DELIVERY SYSTEM IN 778 00:29:33,880 --> 00:29:36,560 CLINICAL TRIALS THAT AIM TO 779 00:29:36,560 --> 00:29:37,280 TREAT FOUR DIFFERENT RARE 780 00:29:37,280 --> 00:29:41,600 DISEASE GENETIC DISEASES. 781 00:29:41,600 --> 00:29:42,720 THE NATIONAL INSTITUTES OF 782 00:29:42,720 --> 00:29:45,880 HEALTH IS THE WORLD'S LARGEST 783 00:29:45,880 --> 00:29:47,680 FUNDER OF BIO MEDICAL RESEARCH 784 00:29:47,680 --> 00:29:49,400 AND WITH THESE INNOVATIVE 785 00:29:49,400 --> 00:29:52,960 APPROACHES WORKING IN TANDEM, I 786 00:29:52,960 --> 00:29:54,400 AM HOPEFUL WE WILL MAKE PROGRESS 787 00:29:54,400 --> 00:29:58,200 THAT WILL IMPROVE LIVES. 788 00:29:58,200 --> 00:30:00,560 BEFORE CLOSING, I WANT TO POINT 789 00:30:00,560 --> 00:30:03,640 OUT THAT A PRINCIPLE FOCUS FOR 790 00:30:03,640 --> 00:30:05,040 NIH LEADERSHIP IN THE LAST FEW 791 00:30:05,040 --> 00:30:06,440 YEARS HAS BEEN AN EFFORT TO 792 00:30:06,440 --> 00:30:12,680 ADDRESS DIVERSITY, EQUITY, 793 00:30:12,680 --> 00:30:13,280 INCLUSION AND ACCESSIBILITY. 794 00:30:13,280 --> 00:30:15,520 WE LAUNCHED THE NIH UNITE 795 00:30:15,520 --> 00:30:16,600 INITIATIVE ALMOST TWO YEARS AGO 796 00:30:16,600 --> 00:30:19,800 AS A CONCERTED EFFORT TO CREATE 797 00:30:19,800 --> 00:30:23,480 EQUITY ACROSS BIO MEDICAL 798 00:30:23,480 --> 00:30:23,720 SCIENCE. 799 00:30:23,720 --> 00:30:25,800 AS WE DEVELOP TREATMENTS FOR 800 00:30:25,800 --> 00:30:26,360 RARE DISEASES IT WILL BE 801 00:30:26,360 --> 00:30:29,680 IMPORTANT TO BE ALERT TO 802 00:30:29,680 --> 00:30:31,400 POTENTIAL INEQUITIES AND 803 00:30:31,400 --> 00:30:34,440 DISPARITIES IN ACCESS TO 804 00:30:34,440 --> 00:30:37,040 TREATMENTS INCLUDING 805 00:30:37,040 --> 00:30:38,000 GENE-TARGETED THERAPIES. 806 00:30:38,000 --> 00:30:40,440 I AM PLEASED TO SEE THERE WILL 807 00:30:40,440 --> 00:30:43,400 BE A SESSION TODAY AFTER LUNCH 808 00:30:43,400 --> 00:30:46,040 TOUCHING ON THIS ISSUE. 809 00:30:46,040 --> 00:30:48,400 THE WORK OF IMPROVING LIFE FOR 810 00:30:48,400 --> 00:30:50,680 PEOPLE WITH RARE DISEASES WILL 811 00:30:50,680 --> 00:30:52,120 TAKE THE CONCERTED AND FOCUSSED 812 00:30:52,120 --> 00:30:55,960 EFFORTS OF ALL OF US, 813 00:30:55,960 --> 00:30:56,760 SCIENTISTS, CAREGIVERS AND 814 00:30:56,760 --> 00:30:58,880 PATIENT ADVOCATES WITH BOTH 815 00:30:58,880 --> 00:31:02,600 PUBLIC AND PRIVATE INVESTMENT. 816 00:31:02,600 --> 00:31:05,200 THANK YOU FOR DOING ALL THAT YOU 817 00:31:05,200 --> 00:31:10,600 CAN IN ADVANCING THIS CAUSE. 818 00:31:10,600 --> 00:31:13,520 >> NEXT WE'LL SHOW A FEW VIDEOS 819 00:31:13,520 --> 00:31:15,560 FROM SENATOR WICKER, CONGRESSMAN 820 00:31:15,560 --> 00:31:18,200 BILIRAKIS AND MATSUI CO-CHAIRS 821 00:31:18,200 --> 00:31:19,080 OF THE RARE DISEASE 822 00:31:19,080 --> 00:31:20,160 CONGRESSIONAL CAUCUS. 823 00:31:20,160 --> 00:31:21,200 UNFORTUNATELY THEIR SCHEDULES 824 00:31:21,200 --> 00:31:23,320 DID NOT ALLOW THEM TO JOIN US 825 00:31:23,320 --> 00:31:25,240 TODAY BUT WE'RE VERY GRATEFUL 826 00:31:25,240 --> 00:31:26,960 THEY'RE ABLE TO SEND US THEIR 827 00:31:26,960 --> 00:31:28,200 REMARKS AND IF YOU'RE INTERESTED 828 00:31:28,200 --> 00:31:32,560 YOU CAN READ SOME OF THEIR BIOS 829 00:31:32,560 --> 00:31:34,480 ON THE RARE DISEASE EVENT APP. 830 00:31:34,480 --> 00:31:36,440 SENATOR KLOBUCHAR HOPED TO 831 00:31:36,440 --> 00:31:37,280 PARTICIPATE IN PERSON BUT WAS 832 00:31:37,280 --> 00:31:39,880 NOT ABLE TO ATTEND. 833 00:31:39,880 --> 00:31:41,400 WE DO HOWEVER, APPRECIATE HER 834 00:31:41,400 --> 00:31:43,720 CONTINUED SUPPORT AS WELL. 835 00:31:43,720 --> 00:31:46,320 I'D ALSO LIKE TO ACKNOWLEDGE THE 836 00:31:46,320 --> 00:31:48,120 SPORT OF THE RARE DISEASE 837 00:31:48,120 --> 00:31:49,120 CONGRESSIONAL CAUCUS AND ITS 838 00:31:49,120 --> 00:31:51,680 MEMBERS AND ALL THE MEMBERS OF 839 00:31:51,680 --> 00:31:51,920 CONGRESS. 840 00:31:51,920 --> 00:31:54,200 WHENEVER NCATS AND I GET THE 841 00:31:54,200 --> 00:31:55,800 PRIVILEGE TO MEET WITH MEMBERS 842 00:31:55,800 --> 00:31:59,600 OF CONGRESS THEY ALMOST ALWAYS 843 00:31:59,600 --> 00:32:05,680 TELL US ABOUT CONSTITUENTS OR 844 00:32:05,680 --> 00:32:07,040 FAMILY MEMBER WITH RARE DISEASE 845 00:32:07,040 --> 00:32:09,640 AND HELPING TO DO WHAT THEY CAN 846 00:32:09,640 --> 00:32:10,360 AND FURTHER PROOF RARE DISEASES 847 00:32:10,360 --> 00:32:13,720 ARE NOT RARE. 848 00:32:13,720 --> 00:32:15,280 WE APPRECIATE THE BYPRODUCT 849 00:32:15,280 --> 00:32:18,880 SUPPORT OF RARE DISEASES AND I'D 850 00:32:18,880 --> 00:32:24,160 LIKE TO INTRODUCE SENATOR WICK 851 00:32:24,160 --> 00:32:28,800 ER SERVING HIS THIRD TERM AND 852 00:32:28,800 --> 00:32:29,960 REPRESENTED MISSISSIPPI IN THE 853 00:32:29,960 --> 00:32:30,520 UNITED STATES SENATE SINCE 854 00:32:30,520 --> 00:32:30,880 SEPTEMBER 2007. 855 00:32:30,880 --> 00:32:33,040 HE'S THE RANKING MEMBER OF THE 856 00:32:33,040 --> 00:32:34,800 SENATE ARMS SERVICES COMMITTEE 857 00:32:34,800 --> 00:32:37,240 AND A SENIOR MEMBER OF THE 858 00:32:37,240 --> 00:32:40,400 SENATE COMMITTEE ON COMMERCE, 859 00:32:40,400 --> 00:32:41,280 SCIENCE, TRANSPORTATION. 860 00:32:41,280 --> 00:32:43,000 HE IS PART OF THE ENVIRONMENT 861 00:32:43,000 --> 00:32:45,240 AND PUBLIC WORKS AND RULES AND 862 00:32:45,240 --> 00:32:46,280 ADMINISTRATION COMMITTEE. 863 00:32:46,280 --> 00:32:49,240 IN ADDITION TO CO-CHAIRS OF THE 864 00:32:49,240 --> 00:32:51,680 RARE DISEASE CONGRESSIONAL 865 00:32:51,680 --> 00:32:53,840 CAUCUS HE'S ON THE SENATE NIH 866 00:32:53,840 --> 00:32:54,640 CAUCUS AS WELL. 867 00:32:54,640 --> 00:32:55,840 LET'S SHOW THE VIDEO FOR SENATOR 868 00:32:55,840 --> 00:32:59,400 ROGER WICKER. 869 00:32:59,400 --> 00:33:02,080 >> HELLO THIS IS U.S. SENATOR 870 00:33:02,080 --> 00:33:04,360 ROGER WICKER FROM MISSISSIPPI. 871 00:33:04,360 --> 00:33:08,400 AS A CO-CHAIRMAN OF THE SENATE 872 00:33:08,400 --> 00:33:09,720 RARE DISEASE CAUCUS IT'S MY 873 00:33:09,720 --> 00:33:11,960 HONOR TO WORK WITH THE NATIONAL 874 00:33:11,960 --> 00:33:12,960 INSTITUTE OF HEALTH TO FIGHT 875 00:33:12,960 --> 00:33:13,280 RARE DISEASES. 876 00:33:13,280 --> 00:33:15,440 THERE'S MORE THAN 7,000 TYPES OF 877 00:33:15,440 --> 00:33:17,240 RARE DISEASES IN THE UNITED 878 00:33:17,240 --> 00:33:23,520 STATES ALONE MANY OF WHICH 879 00:33:23,520 --> 00:33:24,880 DISPROPORTIONATELY AFFECT 880 00:33:24,880 --> 00:33:25,120 CHILDREN. 881 00:33:25,120 --> 00:33:26,240 THERE ARE 25 MILLION AMERICANS 882 00:33:26,240 --> 00:33:27,960 LIVING WITH RARE DISEASES IN THE 883 00:33:27,960 --> 00:33:29,320 UNITED STATES. 884 00:33:29,320 --> 00:33:33,200 THAT NUMBER GROWS TO 350 MILLION 885 00:33:33,200 --> 00:33:33,520 WORLDWIDE. 886 00:33:33,520 --> 00:33:35,160 WITH SO MANY LIVES AFFECTED 887 00:33:35,160 --> 00:33:36,200 EVERY MEDICAL ADVANCEMENT HAS 888 00:33:36,200 --> 00:33:37,320 THE POTENTIAL TO BRING HOPE TO 889 00:33:37,320 --> 00:33:39,160 MANY. 890 00:33:39,160 --> 00:33:41,840 AS YOU ALL KNOW WELL THE NIH 891 00:33:41,840 --> 00:33:45,280 PLAYS A CRUCIAL ROLE IN PUSHING 892 00:33:45,280 --> 00:33:45,840 THESE FORWARD. 893 00:33:45,840 --> 00:33:48,240 YOUR SCIENTISTS CONDUCT RESEARCH 894 00:33:48,240 --> 00:33:50,640 AND DEVELOP DIAGNOSTICS THAT CAN 895 00:33:50,640 --> 00:33:52,640 LEAD TO TREATMENTS AND SAVE 896 00:33:52,640 --> 00:33:53,080 LIVES. 897 00:33:53,080 --> 00:33:55,320 AS A UNITED STATES SENATOR, I 898 00:33:55,320 --> 00:33:57,320 HAVE CONTINUED TO MAKE THIS WORK 899 00:33:57,320 --> 00:33:58,120 A PRIORITY. 900 00:33:58,120 --> 00:34:00,480 EACH YEAR I SUPPORT INCREASES IN 901 00:34:00,480 --> 00:34:02,720 NIH FUNDING WHICH IS CRITICAL TO 902 00:34:02,720 --> 00:34:04,520 FINDING SOLUTIONS FOR THE 903 00:34:04,520 --> 00:34:06,160 MILLIONS WHO SUFFER FROM 904 00:34:06,160 --> 00:34:08,560 AILMENTS WITH NO APPROVED 905 00:34:08,560 --> 00:34:09,800 OPTIONS FOR TREATMENT. 906 00:34:09,800 --> 00:34:11,760 I'LL ALSO WORK TO SUPPORT SMART 907 00:34:11,760 --> 00:34:14,240 LEGISLATION THAT CAN MAKE A 908 00:34:14,240 --> 00:34:14,840 DIFFERENCE. 909 00:34:14,840 --> 00:34:16,040 THIS CONGRESS I'M RE-INTRODUCING 910 00:34:16,040 --> 00:34:21,680 THE BENEFIT ACT WHICH WOULD 911 00:34:21,680 --> 00:34:23,480 ENSURE PATIENT EXPERIENCES AND 912 00:34:23,480 --> 00:34:25,280 LOOK FOR CONSIDERATIONS IN THE 913 00:34:25,280 --> 00:34:27,680 FDA APPROVAL PROCESS. 914 00:34:27,680 --> 00:34:29,280 THIS BIPARTISAN LEGISLATION 915 00:34:29,280 --> 00:34:30,680 WOULD BENEFIT THE RISK FRAMEWORK 916 00:34:30,680 --> 00:34:32,280 AND A REMAIN COMMITTED TO 917 00:34:32,280 --> 00:34:36,120 PUSHING IT OVER THE FINISH LINE 918 00:34:36,120 --> 00:34:39,760 WITH MY COLLEAGUE SENATOR 919 00:34:39,760 --> 00:34:40,000 KLOBUCHAR. 920 00:34:40,000 --> 00:34:43,800 I SUPPORTED THE LANGUAGE IN THE 921 00:34:43,800 --> 00:34:46,800 LEGISLATION TO EXPAND THE USE OF 922 00:34:46,800 --> 00:34:49,160 ORPHAN PRODUCT GRANT TO FUND 923 00:34:49,160 --> 00:34:49,840 REGULATORY SCIENCE. 924 00:34:49,840 --> 00:34:52,480 THIS POLICY ORIGINATED IN THE 925 00:34:52,480 --> 00:34:55,760 STAT ACT WHICH I LED WITH 926 00:34:55,760 --> 00:34:57,240 SENATOR KLOBUCHAR IN THE SENATE. 927 00:34:57,240 --> 00:34:58,680 IT'S A GREAT MILESTONE 40 YEARS 928 00:34:58,680 --> 00:34:59,840 AFTER THE PASSAGE OF THE ORPHAN 929 00:34:59,840 --> 00:35:03,520 DRUG ACT. 930 00:35:03,520 --> 00:35:07,360 THE FIGHT IS FAR FROM OVER BUT 931 00:35:07,360 --> 00:35:08,840 THE GAINS SHOW THE PROMISE OF 932 00:35:08,840 --> 00:35:09,320 BREAKTHROUGHS TO COME. 933 00:35:09,320 --> 00:35:11,160 I HOPE ONE DAY WE CAN FIND CURES 934 00:35:11,160 --> 00:35:11,720 TO RARE DISEASES. 935 00:35:11,720 --> 00:35:27,160 THANK YOU. 936 00:35:27,160 --> 00:35:31,760 >> NEXT UP OUR VIDEO REMARKS 937 00:35:31,760 --> 00:35:35,520 FROM CONGRESSMAN BILIRAKIS. 938 00:35:35,520 --> 00:35:37,920 HE WAS ELECT IN 2007 AND SERVING 939 00:35:37,920 --> 00:35:39,600 HIS NINTH TERM. 940 00:35:39,600 --> 00:35:43,880 THE CONGRESSMAN SERVES AS A 941 00:35:43,880 --> 00:35:45,840 SENIOR MEMBER OF THE COMMITTEE 942 00:35:45,840 --> 00:35:51,480 THAT OVERSEES NIH AND PART OF 943 00:35:51,480 --> 00:35:53,400 THE DATA SUBCOMMITTEE AND PART 944 00:35:53,400 --> 00:35:54,520 OF THE COMMUNICATIONS AND 945 00:35:54,520 --> 00:35:55,040 TECHNOLOGY SUBCOMMITTEE. 946 00:35:55,040 --> 00:35:58,120 LET'S PLEASE ROLL THE TAPE OF 947 00:35:58,120 --> 00:36:05,320 REPRESENTATIVE BILIRAKIS. 948 00:36:05,320 --> 00:36:09,200 >> I'M HONORED TO PARTICIPATE IN 949 00:36:09,200 --> 00:36:11,400 RARE DISEASE OF 2023. 950 00:36:11,400 --> 00:36:13,840 I'M HONORED AND APPRECIATE ALL 951 00:36:13,840 --> 00:36:21,400 THE ADVOCATES FOR ALL THE WORK 952 00:36:21,400 --> 00:36:23,840 THEY DO. 953 00:36:23,840 --> 00:36:27,560 IT'S THE LORD'S WORK AND I WORK 954 00:36:27,560 --> 00:36:29,040 AS THE SUBCOMMITTEE ON HEALTH AS 955 00:36:29,040 --> 00:36:34,080 WELL AS SERVING AS THE CO-CHAIR 956 00:36:34,080 --> 00:36:35,440 OF THE RARE DISEASE CAUCUS HERE 957 00:36:35,440 --> 00:36:37,080 IN THE UNITED STATES CONGRESS. 958 00:36:37,080 --> 00:36:38,520 AS YOU ALL KNOW RARE DISEASES 959 00:36:38,520 --> 00:36:41,280 ARE NOT A RARE PROBLEM AND THERE 960 00:36:41,280 --> 00:36:44,440 ARE AN ESTIMATED 7,000 RARE 961 00:36:44,440 --> 00:36:45,440 DISEASES WHICH AFFECT MORE THAN 962 00:36:45,440 --> 00:36:49,240 30 MILLION AMERICANS. 963 00:36:49,240 --> 00:36:51,880 AND YET 95% OF THESE CONDITIONS 964 00:36:51,880 --> 00:36:55,400 HAVE NO KNOWN TREATMENT OR CURE 965 00:36:55,400 --> 00:36:55,720 UNFORTUNATELY. 966 00:36:55,720 --> 00:36:59,040 WITH EACH RARE DISEASE IMPACTING 967 00:36:59,040 --> 00:37:00,280 SMALLER PATIENT POPULATIONS 968 00:37:00,280 --> 00:37:03,000 THERE ARE CHALLENGES IN GETTING 969 00:37:03,000 --> 00:37:06,440 THE RESOURCES AND ATTENTION 970 00:37:06,440 --> 00:37:10,320 OF -- REALLY THE ATTENTION AND 971 00:37:10,320 --> 00:37:11,640 RESEARCH THAT PATIENTS DESERVE. 972 00:37:11,640 --> 00:37:13,800 WE HAVE TO SOLVE THIS PROBLEM, 973 00:37:13,800 --> 00:37:15,600 FOLKS, AND I KNOW YOU KNOW THIS 974 00:37:15,600 --> 00:37:17,040 BETTER THAN ANYONE. 975 00:37:17,040 --> 00:37:22,200 FOR THIS REASON I'VE BEEN A HUGE 976 00:37:22,200 --> 00:37:23,360 PROPONENT OF FEDERAL GOVERNMENT 977 00:37:23,360 --> 00:37:25,880 RESEARCH THAT CAN PROVIDE HOPE 978 00:37:25,880 --> 00:37:27,840 AND POTENTIAL FOR CURES FOR MANY 979 00:37:27,840 --> 00:37:29,840 OF THESE RARE DISEASES. 980 00:37:29,840 --> 00:37:32,920 NOW, WE WANT TREATMENTS IF WE 981 00:37:32,920 --> 00:37:34,440 CAN'T FIND CURES. 982 00:37:34,440 --> 00:37:37,360 I'M PROUD THE MOST RECENT BUDGET 983 00:37:37,360 --> 00:37:38,920 WE PASSED INCLUDES A SUBSTANTIAL 984 00:37:38,920 --> 00:37:43,400 INCREASE IN FUNDING BY $2.5 985 00:37:43,400 --> 00:37:44,800 BILLION FOR THE NIH AS WELL AS 986 00:37:44,800 --> 00:37:47,320 FUNDING FOR THE CONGENITAL HEART 987 00:37:47,320 --> 00:37:50,520 DISEASE RESEARCH FOR THE 988 00:37:50,520 --> 00:37:53,200 DEVELOPMENT OF THE NATIONAL 989 00:37:53,200 --> 00:37:55,200 NEUROLOGICAL CONDITIONS 990 00:37:55,200 --> 00:37:56,960 SURVEILLANCE SYSTEM AND FOR THE 991 00:37:56,960 --> 00:38:02,280 NATIONAL ALS REGISTRY AND BIO 992 00:38:02,280 --> 00:38:02,600 REPOSITORY. 993 00:38:02,600 --> 00:38:03,560 BIO MEDICAL RESEARCH SAVES LIVES 994 00:38:03,560 --> 00:38:06,000 FOLKS AND I THINK YOU KNOW THAT. 995 00:38:06,000 --> 00:38:10,200 I'M GLAD TO SEE THIS CRITICAL 996 00:38:10,200 --> 00:38:11,920 FUNDING AT NIH HAS CONTINUED. 997 00:38:11,920 --> 00:38:14,440 IT WILL CONTINUE TO BE AN ISSUE 998 00:38:14,440 --> 00:38:17,400 THAT BRINGS TOGETHER MEMBERS OF 999 00:38:17,400 --> 00:38:18,560 CONGRESS IN A BIPARTISAN 1000 00:38:18,560 --> 00:38:19,080 FASHION. 1001 00:38:19,080 --> 00:38:20,560 IN PARTICULAR I WANT TO 1002 00:38:20,560 --> 00:38:22,480 RECOGNIZE THE WORK THE NATIONAL 1003 00:38:22,480 --> 00:38:25,520 CENTER FOR ADVANCING 1004 00:38:25,520 --> 00:38:29,440 TRANSLATIONAL SCIENCES OR THE 1005 00:38:29,440 --> 00:38:33,400 NCATS IS DOING TO ADVANCE GENE 1006 00:38:33,400 --> 00:38:35,080 THERAPY SCIENTIFIC RESEARCH AND 1007 00:38:35,080 --> 00:38:36,840 OTHER RARE DISEASE THERAPEUTICS. 1008 00:38:36,840 --> 00:38:41,320 THIS IS CRITICAL IN PUSHING FOR 1009 00:38:41,320 --> 00:38:42,520 ADDITIONAL TREATMENT AND CURES 1010 00:38:42,520 --> 00:38:45,520 AND TO GET TO CLINICAL TRIALS. 1011 00:38:45,520 --> 00:38:48,280 WHILE I APPRECIATE ALL THE 1012 00:38:48,280 --> 00:38:50,280 RESEARCH THAT HAS BEEN DONE 1013 00:38:50,280 --> 00:38:51,840 UNDER THE NIH, I DO REMAIN 1014 00:38:51,840 --> 00:38:54,800 CONCERNED ABOUT THE ABILITY FOR 1015 00:38:54,800 --> 00:38:56,200 THAT BASIC SCIENCE TO ENTER INTO 1016 00:38:56,200 --> 00:39:00,200 THE DRUG DEVELOPMENT PIPELINE 1017 00:39:00,200 --> 00:39:01,320 AND ULTIMATELY GET TREATMENTS 1018 00:39:01,320 --> 00:39:05,160 APPROVED AND THE HANDS OF THE 1019 00:39:05,160 --> 00:39:05,800 RARE DISEASE PATIENTS THAT NEED 1020 00:39:05,800 --> 00:39:08,040 IT AS SOON AS POSSIBLE. 1021 00:39:08,040 --> 00:39:10,920 IS OF THE ESSENCE. 1022 00:39:10,920 --> 00:39:15,120 THIS YEAR WE CELEBRATE THE 40th 1023 00:39:15,120 --> 00:39:17,880 ANNIVERSARY OF THE ORPHAN DRUG 1024 00:39:17,880 --> 00:39:19,360 ACT AND I PARTICIPATE IN THAT 1025 00:39:19,360 --> 00:39:20,760 AND HONORED TO DO SO. 1026 00:39:20,760 --> 00:39:24,440 AGAIN, THE ORPHAN DRUG ACT WHICH 1027 00:39:24,440 --> 00:39:26,760 HAS LED TO SIGNIFICANT 1028 00:39:26,760 --> 00:39:27,840 INNOVATION IN THE PRIVATE 1029 00:39:27,840 --> 00:39:28,720 SECTOR. 1030 00:39:28,720 --> 00:39:31,280 PRIOR TO THE ORPHAN DRUG ACT'S 1031 00:39:31,280 --> 00:39:36,120 PASSAGE IN 1983, ONLY 38 1032 00:39:36,120 --> 00:39:39,080 TREATMENTS WERE FOOD AND DRUG 1033 00:39:39,080 --> 00:39:41,400 ADMINISTRATION APPROVED FOR 1034 00:39:41,400 --> 00:39:45,440 INDIVIDUALS WITH RARE DISEASES. 1035 00:39:45,440 --> 00:39:46,520 ONLY 38. 1036 00:39:46,520 --> 00:39:51,120 NOW 40 YEARS LATER OVER 1100 NEW 1037 00:39:51,120 --> 00:39:54,560 ORPHAN INDICATIONS HAVE BEEN 1038 00:39:54,560 --> 00:39:57,040 APPROVED BY THE FDA. 1039 00:39:57,040 --> 00:40:00,720 AN ASTOUNDING INCREASE THAT'S 1040 00:40:00,720 --> 00:40:02,200 PROGRESS AND ASTOUNDING INCREASE 1041 00:40:02,200 --> 00:40:05,400 IN THE NUMBER OF SAFE AND 1042 00:40:05,400 --> 00:40:06,600 EFFECTIVE PRODUCTS FOR RARE 1043 00:40:06,600 --> 00:40:08,240 DISEASE PATIENTS WHO PREVIOUSLY 1044 00:40:08,240 --> 00:40:14,240 HAD NO OTHER OPTIONS. 1045 00:40:14,240 --> 00:40:15,120 DESPITE THIS PROGRESS, MUCH WORK 1046 00:40:15,120 --> 00:40:18,760 NEEDS TO BE DONE AND I REMAIN 1047 00:40:18,760 --> 00:40:19,640 COMMITTED TO THE COMMISSION FOR 1048 00:40:19,640 --> 00:40:22,640 POLICY REFORMS AT THE FDA TO 1049 00:40:22,640 --> 00:40:24,680 ACCELERATE DEVELOPMENT OF 1050 00:40:24,680 --> 00:40:28,160 TREATMENTS AND CURES ACROSS THE 1051 00:40:28,160 --> 00:40:29,040 SPECTRUM OF RARE DISEASES AND 1052 00:40:29,040 --> 00:40:29,400 DISORDERS. 1053 00:40:29,400 --> 00:40:33,600 I LOOK FORWARD TO WORK ACROSS 1054 00:40:33,600 --> 00:40:35,600 THE AISLE AS WE HAVE ALL THESE 1055 00:40:35,600 --> 00:40:38,040 YEARS TO DEVELOP SOLUTIONS TO 1056 00:40:38,040 --> 00:40:40,040 ACCELERATE THE FRAMEWORK AND 1057 00:40:40,040 --> 00:40:41,880 CONTINUE TO SPUR INNOVATIVE 1058 00:40:41,880 --> 00:40:44,840 IDEAS IN THE PUBLIC AND PRIVATE 1059 00:40:44,840 --> 00:40:45,080 SECTOR. 1060 00:40:45,080 --> 00:40:46,280 AGAIN, THANK YOU FOR INVITING ME 1061 00:40:46,280 --> 00:40:47,680 TO SPEAK. 1062 00:40:47,680 --> 00:40:49,600 WHAT A GREAT HONOR. 1063 00:40:49,600 --> 00:40:51,560 THANK YOU AGAIN FOR INVITING ME 1064 00:40:51,560 --> 00:40:55,720 TO SPEAK FOR THE RARE DISEASE 1065 00:40:55,720 --> 00:40:56,920 DAY 2023. 1066 00:40:56,920 --> 00:40:58,520 IT IS TRULY A PRIVILEGE. 1067 00:40:58,520 --> 00:41:01,360 IT REALLY IS. 1068 00:41:01,360 --> 00:41:05,880 I ALSO APPRECIATE HEARING FROM 1069 00:41:05,880 --> 00:41:09,400 CONSTITUENTS AND PATIENTS AND I 1070 00:41:09,400 --> 00:41:10,560 HAVE MANY FRIENDS ADVOCATING FOR 1071 00:41:10,560 --> 00:41:14,000 YEARS AND MAKING A GREAT DEAL OF 1072 00:41:14,000 --> 00:41:14,520 PROGRESS. 1073 00:41:14,520 --> 00:41:17,160 I'VE ALWAYS FOUND IT IS THE 1074 00:41:17,160 --> 00:41:18,560 PERSONAL INDIVIDUAL STORIES THAT 1075 00:41:18,560 --> 00:41:21,280 TRULY MAKE THE BIGGEST IMPACT 1076 00:41:21,280 --> 00:41:23,280 AND IT'S SO TRUE. 1077 00:41:23,280 --> 00:41:27,160 IT WILL HELP GARNER THE MUCH 1078 00:41:27,160 --> 00:41:30,240 NEEDED SUPPORT FOR LEGISLATIVE 1079 00:41:30,240 --> 00:41:32,080 CHANGES WE'RE HOPING TO MAKE. 1080 00:41:32,080 --> 00:41:33,880 THANK YOU FOR GETTING OUTSIDE 1081 00:41:33,880 --> 00:41:37,400 YOUR COMFORT ZONE AND EDUCATING 1082 00:41:37,400 --> 00:41:39,440 OUR GOVERNMENT OFFICIALS HOW 1083 00:41:39,440 --> 00:41:41,200 CONGRESS AND OTHER FEDERAL 1084 00:41:41,200 --> 00:41:42,520 STAKEHOLDERS CAN MAKE A POSITIVE 1085 00:41:42,520 --> 00:41:45,400 DIFFERENCE IN THE LIVES OF THOSE 1086 00:41:45,400 --> 00:41:47,240 LIVING WITH RARE DISEASES. 1087 00:41:47,240 --> 00:41:50,520 I KNOW YOU'LL DO GREAT WORK. 1088 00:41:50,520 --> 00:41:52,960 WE'VE BEEN WORKING TOGETHER FOR 1089 00:41:52,960 --> 00:41:55,480 SO MANY YEARS AND MAKING A GREAT 1090 00:41:55,480 --> 00:41:56,320 DEAL OF PROGRESS. 1091 00:41:56,320 --> 00:41:57,800 I KNOW YOU'LL CONTINUE THAT 1092 00:41:57,800 --> 00:41:58,320 GREAT WORK. 1093 00:41:58,320 --> 00:42:01,760 AGAIN, THANK YOU FOR 1094 00:42:01,760 --> 00:42:02,920 PARTICIPATING TODAY AND THANK 1095 00:42:02,920 --> 00:42:05,400 YOU FOR YOUR SUPPORT FOR THIS 1096 00:42:05,400 --> 00:42:13,600 WORTHWHILE ENDEAVOR. 1097 00:42:13,600 --> 00:42:16,440 >> I COULDN'T HELP BUT NOTICE 1098 00:42:16,440 --> 00:42:19,760 HIS CALENDAR THERE THINKING WOW, 1099 00:42:19,760 --> 00:42:21,560 HE WORKS 24/7. 1100 00:42:21,560 --> 00:42:24,960 AND I'M SURE THAT'S THE SAME FOR 1101 00:42:24,960 --> 00:42:26,280 ALL THESE CONGRESSMEN AND WOMEN 1102 00:42:26,280 --> 00:42:31,960 WHO ARE SPEAKING TO US TODAY. 1103 00:42:31,960 --> 00:42:34,440 WHAT A THRILL TO HAVE THEM JOIN 1104 00:42:34,440 --> 00:42:36,080 US FOR RARE DISEASE RESEARCH. 1105 00:42:36,080 --> 00:42:38,920 AND FINALLY REMARKS FROM DORIS 1106 00:42:38,920 --> 00:42:41,400 MATSUI WHO REPRESENTED THE CITY 1107 00:42:41,400 --> 00:42:43,880 OF SACRAMENTO IN THE 7th 1108 00:42:43,880 --> 00:42:45,400 DISTRICT OF CALIFORNIA SINCE 1109 00:42:45,400 --> 00:42:45,600 2005. 1110 00:42:45,600 --> 00:42:47,240 THIS IS HER 10th TERM. 1111 00:42:47,240 --> 00:42:50,880 AS A SENIOR MEMBER OF THE HOUSE 1112 00:42:50,880 --> 00:42:53,240 ENERGY COMMITTEE SERVES ON THE 1113 00:42:53,240 --> 00:42:54,080 CLIMATE AND GRID SECURITY 1114 00:42:54,080 --> 00:42:56,240 COMMITTEE AND VICE CHAIR OF THE 1115 00:42:56,240 --> 00:42:57,280 COMMUNICATIONS AND TECHNOLOGY 1116 00:42:57,280 --> 00:43:00,480 SUBCOMMITTEE AND BEEN A TIRELESS 1117 00:43:00,480 --> 00:43:01,360 SUPPORTER OF THE NIH CHILDREN'S 1118 00:43:01,360 --> 00:43:07,920 INN DOWN THE ROAD. 1119 00:43:07,920 --> 00:43:09,760 CONGRESSWOMAN MATSUI IS PART OF 1120 00:43:09,760 --> 00:43:13,360 THE RARE DISEASE CAUCUS TAKING 1121 00:43:13,360 --> 00:43:14,280 THE POSITION THIS CONGRESS. 1122 00:43:14,280 --> 00:43:17,320 I LOOK FORWARD TO HEARING 1123 00:43:17,320 --> 00:43:18,920 REMARKS FROM CONGRESSWOMAN 1124 00:43:18,920 --> 00:43:21,400 MATSUI. 1125 00:43:21,400 --> 00:43:22,600 THANK YOU. 1126 00:43:22,600 --> 00:43:27,000 >> THANK YOU FOR JOINING US FOR 1127 00:43:27,000 --> 00:43:29,680 RARE DISEASE DAY AT NIH. 1128 00:43:29,680 --> 00:43:31,880 AS A NEW CO-CHAIR OF THE RARE 1129 00:43:31,880 --> 00:43:32,920 DISEASE CONGRESSIONAL CAUCUSES 1130 00:43:32,920 --> 00:43:33,480 IT EXCITING TO SPEAK TO YOU 1131 00:43:33,480 --> 00:43:35,960 TODAY. 1132 00:43:35,960 --> 00:43:39,280 I WANT TO GIVE A SPECIAL THANK 1133 00:43:39,280 --> 00:43:43,120 YOU TO ALL THE NIH STAFF AND 1134 00:43:43,120 --> 00:43:45,280 PARTNERS WHO MADE THIS EVENT 1135 00:43:45,280 --> 00:43:46,400 POSSIBLE EVERY YEAR. 1136 00:43:46,400 --> 00:43:48,880 I ALSO WANT TO THANK EACH OF YOU 1137 00:43:48,880 --> 00:43:52,600 FOR TAKING THE TIME TO BE WITH 1138 00:43:52,600 --> 00:43:54,880 US TODAY FROM RESEARCHERS WHO 1139 00:43:54,880 --> 00:43:57,440 HAVE COMMITTED THEIR LIVES TO 1140 00:43:57,440 --> 00:43:58,960 FINDING CURES FOR RARE DISEASES 1141 00:43:58,960 --> 00:44:01,840 TO PATIENTS, FAMILIES AND 1142 00:44:01,840 --> 00:44:02,240 CAREGIVERS. 1143 00:44:02,240 --> 00:44:05,520 YOUR DEDICATION TO IMPROVING THE 1144 00:44:05,520 --> 00:44:07,640 LIVES OF THE RARE DISEASE 1145 00:44:07,640 --> 00:44:09,880 COMMUNITY IS FOUNDATIONAL TO THE 1146 00:44:09,880 --> 00:44:13,880 WORK WE DO IN CONGRESS. 1147 00:44:13,880 --> 00:44:15,920 RARE DISEASE WEEK IS AN 1148 00:44:15,920 --> 00:44:17,840 IMPORTANT TIME TO HAVE 1149 00:44:17,840 --> 00:44:19,880 DISCUSSIONS LIKE THE ONE WE ARE 1150 00:44:19,880 --> 00:44:22,400 HAVING TODAY TO THINK BIGGER, 1151 00:44:22,400 --> 00:44:24,840 LEARN FROM EACH OTHER AND CHART 1152 00:44:24,840 --> 00:44:26,720 A PATH FORWARD. 1153 00:44:26,720 --> 00:44:29,200 THIS YEAR WE'RE CELEBRATING 40 1154 00:44:29,200 --> 00:44:32,840 YEARS OF THE ORPHAN DRUG ACT 1155 00:44:32,840 --> 00:44:35,960 WHICH HAS BEEN CRUCIAL TO 1156 00:44:35,960 --> 00:44:36,480 ENCOURAGE PHARMACEUTICAL 1157 00:44:36,480 --> 00:44:39,880 COMPANIES TO DEVELOP DRUGS FOR 1158 00:44:39,880 --> 00:44:40,480 THE RARE DISEASE COMMUNITY. 1159 00:44:40,480 --> 00:44:44,360 IT HAS BEEN A KEY DRIVER FOR 1160 00:44:44,360 --> 00:44:45,960 DECADES OF INNOVATION. 1161 00:44:45,960 --> 00:44:49,400 AND THAT LEGISLATION CONTINUES 1162 00:44:49,400 --> 00:44:51,400 TO BE VITALLY IMPORTANT BUT WE 1163 00:44:51,400 --> 00:44:54,760 MUST ALSO KNOW WE MUST BUILD ON 1164 00:44:54,760 --> 00:44:57,400 THAT PROGRESS DESPITE THE 1165 00:44:57,400 --> 00:45:01,400 SUCCESS OF THE ORPHAN DRUG ACT 1166 00:45:01,400 --> 00:45:03,040 OF 7,000 KNOWN RARE DISEASES 1167 00:45:03,040 --> 00:45:05,960 MORE THAN 10% HAVE A TREATMENT. 1168 00:45:05,960 --> 00:45:08,080 AND THE DEMANDS OF RARE DISEASES 1169 00:45:08,080 --> 00:45:12,760 WE MUST CONTINUE TO PUSH 1170 00:45:12,760 --> 00:45:13,120 FORWARD. 1171 00:45:13,120 --> 00:45:18,400 AND THAT'S WHY DAYS LIKE TODAY 1172 00:45:18,400 --> 00:45:21,920 ARE SO IMPORTANT TO SHARE 1173 00:45:21,920 --> 00:45:24,280 STORIES, TO ENGAGE PRODUCTIVE 1174 00:45:24,280 --> 00:45:27,240 DIALOGUE ABOUT THE FUTURE. 1175 00:45:27,240 --> 00:45:29,400 MY COLLEAGUES AND I KNOW WE'VE 1176 00:45:29,400 --> 00:45:31,840 TALKED ABOUT THE NEXT 40 YEARS. 1177 00:45:31,840 --> 00:45:35,360 ABOUT THE COLLECTIVE WORK WE'LL 1178 00:45:35,360 --> 00:45:37,840 DO TO HELP CLOSE INNOVATION GAP 1179 00:45:37,840 --> 00:45:40,120 FOR THOUSANDS OF RARE DISEASES 1180 00:45:40,120 --> 00:45:41,400 THAT HAVE NO FDA APPROVED 1181 00:45:41,400 --> 00:45:44,080 TREATMENT. 1182 00:45:44,080 --> 00:45:47,280 WE KNOW THAT ACCESS TO THE BEST 1183 00:45:47,280 --> 00:45:49,400 MEDICAL CARE IS CRUCIAL FOR 1184 00:45:49,400 --> 00:45:51,560 PATIENTS LIVING WITH RARE AND 1185 00:45:51,560 --> 00:45:53,840 ULTRA RARE DISEASES. 1186 00:45:53,840 --> 00:45:56,320 THAT'S WHY I'VE LONG MADE IT A 1187 00:45:56,320 --> 00:46:00,760 PRIORITY TO WORK ON POLICIES 1188 00:46:00,760 --> 00:46:02,160 THAT ADVANCE THE SCIENCE OF RARE 1189 00:46:02,160 --> 00:46:03,880 DISEASE THERAPIES AND EXPAND 1190 00:46:03,880 --> 00:46:09,920 ACCESS TO CARE. 1191 00:46:09,920 --> 00:46:13,360 THIS CONGRESS I'VE RE-INTRODUCED 1192 00:46:13,360 --> 00:46:15,600 THE ACT TO BENEFIT PATIENT 1193 00:46:15,600 --> 00:46:17,040 ENGAGEMENT IN THE DRUG 1194 00:46:17,040 --> 00:46:17,920 DEVELOPMENT PROCESS. 1195 00:46:17,920 --> 00:46:20,280 I'M ALSO PROUD TO LEAD THE 1196 00:46:20,280 --> 00:46:21,880 ACCESS TO RARE DISEASE 1197 00:46:21,880 --> 00:46:23,680 INDICATIONS ACT TO SUPPORT 1198 00:46:23,680 --> 00:46:27,200 PATIENTS WITH RARE AND ULTRA 1199 00:46:27,200 --> 00:46:30,320 RARE DISEASES IN GETTING 1200 00:46:30,320 --> 00:46:30,840 EVIDENCE-BASED MEDICALLY 1201 00:46:30,840 --> 00:46:31,680 NECESSARY CARE COVERED BY THEIR 1202 00:46:31,680 --> 00:46:34,120 HEALTH INSURANCE. 1203 00:46:34,120 --> 00:46:36,280 AS WE MOVE FORWARD IN A NEW 1204 00:46:36,280 --> 00:46:38,360 CONGRESS, I LOOK FORWARD TO 1205 00:46:38,360 --> 00:46:41,400 WORKING TOGETHER WITH MY CAUCUS 1206 00:46:41,400 --> 00:46:42,400 COLLEAGUES AND THE RARE DISEASE 1207 00:46:42,400 --> 00:46:45,160 COMMUNITY TO FOCUS ON HOW WE CAN 1208 00:46:45,160 --> 00:46:48,040 STRENGTHEN AND PROTECT THE 1209 00:46:48,040 --> 00:46:51,200 ORPHAN DRUG ACT INCENTIVES AND 1210 00:46:51,200 --> 00:46:52,640 MAKE IMPORTANT PROGRESS TOWARD 1211 00:46:52,640 --> 00:46:54,640 OUR COLLECTIVE GOAL TO IMPROVE 1212 00:46:54,640 --> 00:46:59,520 THE LIVES OF PATIENTS AND 1213 00:46:59,520 --> 00:46:59,800 FAMILIES. 1214 00:46:59,800 --> 00:47:02,040 TODAY IS ABOUT THE ACTIONS WE'LL 1215 00:47:02,040 --> 00:47:04,360 TAKE FOR TOMORROW AND THE DAY 1216 00:47:04,360 --> 00:47:08,480 AFTER THAT AND THE YEARS AHEAD 1217 00:47:08,480 --> 00:47:12,320 TO ADVANCE EFFORTS THAT SUPPORT 1218 00:47:12,320 --> 00:47:13,560 INNOVATIVE THERAPIES AND 1219 00:47:13,560 --> 00:47:14,320 EVENTUALLY CURES TO FOREVER 1220 00:47:14,320 --> 00:47:17,440 CHANGE THE OUTLOOK FOR LIVING 1221 00:47:17,440 --> 00:47:20,440 WITH RARE DISEASES. 1222 00:47:20,440 --> 00:47:22,680 I TRULY BELIEVE THE TREMENDOUS 1223 00:47:22,680 --> 00:47:25,040 ADVANCEMENTS WE HAVE MADE IN 1224 00:47:25,040 --> 00:47:27,480 RESEARCHING AND UNDERSTANDING 1225 00:47:27,480 --> 00:47:31,640 THESE DISEASES WILL ONLY 1226 00:47:31,640 --> 00:47:32,720 CONTINUE TO GROW. 1227 00:47:32,720 --> 00:47:35,040 I LOOK FORWARD TO CONTINUING OUR 1228 00:47:35,040 --> 00:47:37,200 WORK TOGETHER AND THANK YOU 1229 00:47:37,200 --> 00:47:39,920 AGAIN FOR BEING HERE TO SUPPORT 1230 00:47:39,920 --> 00:47:50,400 THE RARE DISEASE COMMUNITY. 1231 00:47:59,120 --> 00:48:03,000 >> I'D LIKE TO INTRODUCE PG 1232 00:48:03,000 --> 00:48:04,120 BROOKS FOR OUR FIRST SESSION OF 1233 00:48:04,120 --> 00:48:05,080 THE DAY. 1234 00:48:05,080 --> 00:48:09,360 THE SESSION IS A WAY FOR US TO 1235 00:48:09,360 --> 00:48:10,080 HIGHLIGHT OUR MANY NCATS RARE 1236 00:48:10,080 --> 00:48:11,880 DISEASE PROGRAMS AND RESOURCES. 1237 00:48:11,880 --> 00:48:14,120 PJ IS OUR ACTING DIRECTOR OF THE 1238 00:48:14,120 --> 00:48:16,160 DIVISION RARE DISEASES RESEARCH 1239 00:48:16,160 --> 00:48:17,320 INNOVATION AND HE WILL NOW 1240 00:48:17,320 --> 00:48:17,880 PROVIDE AN OVERVIEW OF THE 1241 00:48:17,880 --> 00:48:26,480 SESSION. 1242 00:48:26,480 --> 00:48:27,240 >> THANK YOU. 1243 00:48:27,240 --> 00:48:28,320 IT'S WONDERFUL TO BE BACK AND 1244 00:48:28,320 --> 00:48:29,880 SEE EVERYBODY IN PERSON. 1245 00:48:29,880 --> 00:48:31,560 LOTS OF OLD FRIENDS AND NEW 1246 00:48:31,560 --> 00:48:33,880 FRIENDS AND LOTS OF ZEBRA ATTIRE 1247 00:48:33,880 --> 00:48:39,920 IS INSPIRING TO SEE. 1248 00:48:39,920 --> 00:48:50,480 I'LL GIVE A BRIEF INTRODUCTION. 1249 00:49:02,760 --> 00:49:05,640 A COUPLE THINGS HAVE HAPPENED IN 1250 00:49:05,640 --> 00:49:07,280 THE LAST FEW YEARS. 1251 00:49:07,280 --> 00:49:08,760 THREE YEARS AGO WE WERE HERE 1252 00:49:08,760 --> 00:49:10,840 THERE WAS SOMETHING CALLED THE 1253 00:49:10,840 --> 00:49:13,120 ORDR UPDATE FOR THE OFFICE OF 1254 00:49:13,120 --> 00:49:15,720 ARE RARE DISEASES RESEARCH. 1255 00:49:15,720 --> 00:49:16,480 IN THE INTERVENING TIME WE'VE 1256 00:49:16,480 --> 00:49:18,760 GONE FROM AN OFFICE TO DIVISION. 1257 00:49:18,760 --> 00:49:20,760 NOW WE'RE DRDRI AND I REALIZE 1258 00:49:20,760 --> 00:49:23,000 THE SIGNIFICANCE OF THAT MAY NOT 1259 00:49:23,000 --> 00:49:25,560 BE OBVIOUS TO MANY OF YOU BUT A 1260 00:49:25,560 --> 00:49:27,880 DIVISION IS BIGGER THAN AN 1261 00:49:27,880 --> 00:49:30,480 OFFICE SO THAT'S AN INDICATION 1262 00:49:30,480 --> 00:49:38,160 OF THE POESHS -- IMPORTANCE OF 1263 00:49:38,160 --> 00:49:39,480 NCATS AND NIH PLAYS ON RESEARCH 1264 00:49:39,480 --> 00:49:40,440 AND SOME PROGRAMS HAVE CONTINUED 1265 00:49:40,440 --> 00:49:42,280 AND WE HAVE THEM LISTED HERE. 1266 00:49:42,280 --> 00:49:44,640 I'M NOT GOING TO GO THROUGH ALL 1267 00:49:44,640 --> 00:49:46,040 BECAUSE IT WOULD TAKE TOO MUCH 1268 00:49:46,040 --> 00:49:46,440 TIME. 1269 00:49:46,440 --> 00:49:47,920 MANY WILL BE HIGHLIGHTED IN THE 1270 00:49:47,920 --> 00:49:50,360 TALKS HERE AND IN SOME OF THE 1271 00:49:50,360 --> 00:49:50,600 BOOTHS. 1272 00:49:50,600 --> 00:49:54,240 I DO WANT TO PARTICULARLY 1273 00:49:54,240 --> 00:49:56,360 HIGHLIGHT THOUGH TWO PROGRAMS 1274 00:49:56,360 --> 00:49:58,080 THE TOOL KIT FOR 1275 00:49:58,080 --> 00:49:59,920 PATIENT-FOCUSSED THERAPY AND THE 1276 00:49:59,920 --> 00:50:00,720 REGISTRY PROGRAM. 1277 00:50:00,720 --> 00:50:03,960 THESE ARE TWO WE PLAN TO UPGRADE 1278 00:50:03,960 --> 00:50:06,920 IN THE NEXT YEAR AND WE'RE VERY 1279 00:50:06,920 --> 00:50:08,040 INTERESTED IN HEARING 1280 00:50:08,040 --> 00:50:09,120 IMPRESSIONS FROM THE COMMUNITY 1281 00:50:09,120 --> 00:50:11,080 ON THE EFFORTS. 1282 00:50:11,080 --> 00:50:14,040 LINDA HO FROM MY TEAM HAS A 1283 00:50:14,040 --> 00:50:16,440 BOOTH AND IF YOU WANT TO SPEAK 1284 00:50:16,440 --> 00:50:21,400 TO HER ABOUT IT IT'S A GREAT 1285 00:50:21,400 --> 00:50:23,040 OPPORTUNITY. 1286 00:50:23,040 --> 00:50:26,040 THERE'S A FEW THINGS I FIND LESS 1287 00:50:26,040 --> 00:50:27,720 INTERESTING THAN THE 1288 00:50:27,720 --> 00:50:28,240 ORGANIZATIONAL CHART OF A 1289 00:50:28,240 --> 00:50:30,160 FEDERAL GOVERNMENT ACTIVITY. 1290 00:50:30,160 --> 00:50:32,600 IN THIS CASE I PUT THIS UP HERE 1291 00:50:32,600 --> 00:50:35,600 FOR A PARTICULAR REASON WHICH IS 1292 00:50:35,600 --> 00:50:39,040 TO INDICATE THAT THE SUPPORT FOR 1293 00:50:39,040 --> 00:50:42,040 RARE DISEASE AT NCATS IS NOT 1294 00:50:42,040 --> 00:50:48,000 LIMITED TO THE RARE DISEASE 1295 00:50:48,000 --> 00:50:49,160 RESEARCH INNOVATION AND I PUT 1296 00:50:49,160 --> 00:50:51,240 THE STARS TO INDICATE THE 1297 00:50:51,240 --> 00:50:52,560 DIVISION PROVIDE RESEARCH AND 1298 00:50:52,560 --> 00:50:56,520 ALL HAVE AT LEAST SOME ACTIVITY 1299 00:50:56,520 --> 00:50:59,520 THAT SPECIFICALLY CALLS OUT AND 1300 00:50:59,520 --> 00:51:00,160 TARGETS RARE DISEASE RESEARCH. 1301 00:51:00,160 --> 00:51:02,240 THE OTHER ENTITIES DON'T 1302 00:51:02,240 --> 00:51:05,040 DIRECTLY SUPPORT RESEARCH BUT 1303 00:51:05,040 --> 00:51:06,080 THEY SUPPORT -- THEY DON'T 1304 00:51:06,080 --> 00:51:09,400 SUPPORT THEM FINANCIALLY BUT 1305 00:51:09,400 --> 00:51:19,520 SUPPORT 1306 00:51:39,520 --> 00:51:42,560 THE FIRST IS BY ERIC SID TO TALK 1307 00:51:42,560 --> 00:51:47,040 ABOUT THE GUARD INFORMATION 1308 00:51:47,040 --> 00:51:51,920 CENTER AND LIZ WILL TALK ABOUT 1309 00:51:51,920 --> 00:51:56,920 RARE SOURCE AND QIAN WILL TALK 1310 00:51:56,920 --> 00:51:58,080 ABOUT THE SYSTEM AND THEY'RE 1311 00:51:58,080 --> 00:52:02,960 MEANT TO BE INTERLOCKING AND 1312 00:52:02,960 --> 00:52:03,520 INTERRELATED SO THEY ALL 1313 00:52:03,520 --> 00:52:04,960 COMMUNICATE AND AS WE BRING IN 1314 00:52:04,960 --> 00:52:06,880 NEW INFORMATICS PROGRAMS THEY'LL 1315 00:52:06,880 --> 00:52:08,560 BE CONNECTED WITH THE OTHER 1316 00:52:08,560 --> 00:52:08,760 ONES. 1317 00:52:08,760 --> 00:52:11,480 AFTER THOSE INFORMATICS PROGRAMS 1318 00:52:11,480 --> 00:52:15,240 WE'LL HEAR A TALK FROM RICHA 1319 00:52:15,240 --> 00:52:20,760 LOMASH AND WILL GIVE AN UPDATE 1320 00:52:20,760 --> 00:52:23,720 ON THE PAVE-GT PROGRAM AND WE'LL 1321 00:52:23,720 --> 00:52:26,480 HAVE THOSE TALKS IN A ROW AND 1322 00:52:26,480 --> 00:52:29,840 THEN COME DOWN IN THE COMFY 1323 00:52:29,840 --> 00:52:33,360 CHAIRS AND HAVE QUESTIONS. 1324 00:52:33,360 --> 00:52:43,600 FIRST TO ERIC. 1325 00:53:08,320 --> 00:53:14,840 -- IT CAN TAKE 6.3 YEARS ON 1326 00:53:14,840 --> 00:53:16,480 AVERAGE ONCE SYMPTOMS START TO 1327 00:53:16,480 --> 00:53:18,600 GET A DIAGNOSIS. 1328 00:53:18,600 --> 00:53:22,360 THERE'S MANY REASONS BEHIND A 1329 00:53:22,360 --> 00:53:23,800 TIMELY DIAGNOSIS WITHIN RARE 1330 00:53:23,800 --> 00:53:24,200 DISEASES. 1331 00:53:24,200 --> 00:53:26,720 I WON'T EXPLORE ALL THESE IS 1332 00:53:26,720 --> 00:53:29,400 FROM A DLA REPORT AND I'LL FOCUS 1333 00:53:29,400 --> 00:53:31,480 ON ONE, LACK OF KNOWLEDGE ABOUT 1334 00:53:31,480 --> 00:53:32,440 DISEASE. 1335 00:53:32,440 --> 00:53:36,240 WHAT LIMITS THE USE OF EXISTING 1336 00:53:36,240 --> 00:53:37,400 RARE DISEASE KNOWLEDGE WE'RE 1337 00:53:37,400 --> 00:53:38,720 TALKING ABOUT SIGNS AND 1338 00:53:38,720 --> 00:53:40,720 SYMPTOMS, CLINICAL COURSE, 1339 00:53:40,720 --> 00:53:42,280 NATURAL HISTORY OF THE DISEASE, 1340 00:53:42,280 --> 00:53:44,760 CAUSE OR ETIOLOGY AND WHICH 1341 00:53:44,760 --> 00:53:46,160 MEDICAL SPECIALISTS SUPPORT IT 1342 00:53:46,160 --> 00:53:48,280 AND ISSUES SUCH AS STATISTICS 1343 00:53:48,280 --> 00:53:50,200 SUCH AS POPULATION ESTIMATES. 1344 00:53:50,200 --> 00:53:51,080 THIS INFORMATION AND RESEARCH 1345 00:53:51,080 --> 00:53:53,000 INFORMATION CAN OFTEN TIMES BE 1346 00:53:53,000 --> 00:53:57,400 HARD TO ACCESS, RETRIEVE OR 1347 00:53:57,400 --> 00:54:01,320 INTERPRET AND OFTEN IN FORMATS 1348 00:54:01,320 --> 00:54:03,040 AND TERMS THAT AREN'T USED DAY 1349 00:54:03,040 --> 00:54:03,480 TO DAY. 1350 00:54:03,480 --> 00:54:05,400 NEW RESEARCH INFORMATION IS 1351 00:54:05,400 --> 00:54:06,920 CONSTANTLY PUBLISHED OR UPDATED 1352 00:54:06,920 --> 00:54:11,160 AS TWO EXAMPLES FOR ONE DISEASE 1353 00:54:11,160 --> 00:54:15,480 SPECIFIC WE HAVE DATA SHOWING 1354 00:54:15,480 --> 00:54:18,720 EVERY YEAR HUNDREDS OF ARTICLES 1355 00:54:18,720 --> 00:54:20,560 COME OUT AND PUBLICATIONS THAT 1356 00:54:20,560 --> 00:54:22,120 DESCRIBE THE DISEASE AND LOOKED 1357 00:54:22,120 --> 00:54:25,000 AT A COLLECTIVE WITH OVER 5,000 1358 00:54:25,000 --> 00:54:27,640 DISEASE WE FOUND OVER 160,000 1359 00:54:27,640 --> 00:54:28,600 PUBLICATIONS IN HISTORY. 1360 00:54:28,600 --> 00:54:30,840 WHAT THIS MEANS IS AS A WHOLE WE 1361 00:54:30,840 --> 00:54:31,840 CAN'T ADDRESS INDIVIDUAL 1362 00:54:31,840 --> 00:54:34,200 DISEASES ONE BY ONE WHEN WE'RE 1363 00:54:34,200 --> 00:54:35,200 TRYING TO UNDERSTAND THEM. 1364 00:54:35,200 --> 00:54:37,040 WE NEED TO THINK ABOUT 1365 00:54:37,040 --> 00:54:38,200 COMMONALITIES AND THINK ABOUT 1366 00:54:38,200 --> 00:54:40,200 MANY DISEASES AT A TIME OR 1367 00:54:40,200 --> 00:54:42,480 PLATFORM APPROACHES. 1368 00:54:42,480 --> 00:54:45,440 THIS GOES INTO NCATS' MISSION TO 1369 00:54:45,440 --> 00:54:47,960 TURN RESEARCH OBSERVATIONS INTO 1370 00:54:47,960 --> 00:54:49,000 HEALTH SOLUTIONS THROUGH 1371 00:54:49,000 --> 00:54:49,480 TRANSLATIONAL SCIENCE. 1372 00:54:49,480 --> 00:54:50,880 WHEN WE THINK ABOUT HOW TO DO 1373 00:54:50,880 --> 00:54:53,400 THAT WE HAVE TO THINK WHERE THE 1374 00:54:53,400 --> 00:54:54,560 SOURCES OF INFORMATION ARE. 1375 00:54:54,560 --> 00:54:56,800 THERE ARE MANY DIFFERENT 1376 00:54:56,800 --> 00:54:57,760 RESOURCES FOR BOTH RARE DISEASES 1377 00:54:57,760 --> 00:54:59,800 AS WELL AS COMMON DISEASES FOR 1378 00:54:59,800 --> 00:55:00,080 KNOWLEDGE. 1379 00:55:00,080 --> 00:55:02,040 SOME ARE LISTED HERE BUT THERE'S 1380 00:55:02,040 --> 00:55:05,720 MANY MORE OUT THERE AS WELL. 1381 00:55:05,720 --> 00:55:06,640 ONE THING IS A NUMBER OF THE 1382 00:55:06,640 --> 00:55:10,280 RESOURCES ARE TALKING ABOUT THE 1383 00:55:10,280 --> 00:55:12,800 SAME DISEASE OVER 6300 DISEASE 1384 00:55:12,800 --> 00:55:14,240 PRESENT IN THREE OR MORE 1385 00:55:14,240 --> 00:55:15,800 RESOURCES BUT THEY'RE UNIQUE TO 1386 00:55:15,800 --> 00:55:16,600 ONLY ONE SOURCE. 1387 00:55:16,600 --> 00:55:17,920 THIS AGAIN IS A PROBLEM. 1388 00:55:17,920 --> 00:55:19,640 WE DON'T WANT TO SILO 1389 00:55:19,640 --> 00:55:20,520 INFORMATION IN EFFORTS AROUND 1390 00:55:20,520 --> 00:55:23,240 TRYING TO MAKE DISCOVERIES IN 1391 00:55:23,240 --> 00:55:23,880 RARE DISEASES. 1392 00:55:23,880 --> 00:55:25,960 IF WE THINK ABOUT THE 1393 00:55:25,960 --> 00:55:26,440 TRANSLATIONAL SCIENCE 1394 00:55:26,440 --> 00:55:27,120 OPPORTUNITIES IN RARE DISEASES 1395 00:55:27,120 --> 00:55:30,360 WE WANT TO FOCUS ON TWO SPECIFIC 1396 00:55:30,360 --> 00:55:31,160 PRINCIPLES. 1397 00:55:31,160 --> 00:55:32,040 GENERALIZABLE SOLUTIONS AND A 1398 00:55:32,040 --> 00:55:33,920 FOCUS ON UNMET NEEDS. 1399 00:55:33,920 --> 00:55:35,960 YOU NEED TO CREATE SOLUTIONS TO 1400 00:55:35,960 --> 00:55:37,120 ADDRESS MANY DISEASES AT A TIME 1401 00:55:37,120 --> 00:55:38,960 SO WE'RE NOT TALKING ABOUT ONE 1402 00:55:38,960 --> 00:55:40,640 OR A HUNDRED OR A DOZEN. 1403 00:55:40,640 --> 00:55:42,520 YOU NEED TO THINK UP TO 1404 00:55:42,520 --> 00:55:43,760 THOUSANDS OF DISEASES TOGETHER. 1405 00:55:43,760 --> 00:55:46,680 IN ADDITION WE NEED TO BUILD ON 1406 00:55:46,680 --> 00:55:48,080 EXISTING KNOWLEDGE SOURCES AND 1407 00:55:48,080 --> 00:55:51,360 THINKING ABOUT OTHER TYPES OF 1408 00:55:51,360 --> 00:55:53,400 QUESTIONS AND UNMET NEEDS THAT 1409 00:55:53,400 --> 00:55:54,440 MAY NOT HAVE BEEN EXPLORED YET. 1410 00:55:54,440 --> 00:55:57,160 I'LL START BY TALKING A LITTLE 1411 00:55:57,160 --> 00:55:58,760 BIT ABOUT THE GARD INFORMATION 1412 00:55:58,760 --> 00:56:02,280 CENTER AND THESE ARE RELATED. 1413 00:56:02,280 --> 00:56:04,800 AND RATHER THAN TRYING TO DO THE 1414 00:56:04,800 --> 00:56:05,760 SAME EXACT QUESTION OR 1415 00:56:05,760 --> 00:56:08,120 UNDERSTAND THE SAME TYPE OF 1416 00:56:08,120 --> 00:56:09,120 INFORMATION THREE DIFFERENT 1417 00:56:09,120 --> 00:56:10,080 TIMES, WE'RE TRYING TO FUNNEL 1418 00:56:10,080 --> 00:56:12,440 THIS THROUGH A SINGLE APPROACH 1419 00:56:12,440 --> 00:56:14,040 TO TAKE INFORMATION AND THINK 1420 00:56:14,040 --> 00:56:15,480 THE DIFFERENT WAYS TO EXPLORE 1421 00:56:15,480 --> 00:56:17,440 AND MAKE USE OF THAT 1422 00:56:17,440 --> 00:56:17,720 INFORMATION. 1423 00:56:17,720 --> 00:56:18,600 FOR THE GARD INFORMATION CENTER 1424 00:56:18,600 --> 00:56:21,520 THIS IS THE GENETIC AND RARE 1425 00:56:21,520 --> 00:56:22,560 DISEASE INFORMATION CENTER. 1426 00:56:22,560 --> 00:56:24,200 THE GOAL IS TO PROVIDE 1427 00:56:24,200 --> 00:56:25,200 UNDERSTANDABLE INFORMATION ON 1428 00:56:25,200 --> 00:56:26,720 RARE DISEASES TO PATIENTS, 1429 00:56:26,720 --> 00:56:28,000 CAREGIVERS AND PUBLIC. 1430 00:56:28,000 --> 00:56:30,640 IT MANAGES PUBLIC WEBSITE FOUND 1431 00:56:30,640 --> 00:56:38,480 AT RARE DISEASES.INFO.NIH.gov 1432 00:56:38,480 --> 00:56:40,400 AND SUPPORT FOR ANYONE WITH RARE 1433 00:56:40,400 --> 00:56:43,240 DISEASE TO FIND ACCESS TO 1434 00:56:43,240 --> 00:56:43,560 INFORMATION. 1435 00:56:43,560 --> 00:56:46,240 WHEN WE TALK ABOUT THE DIFFERENT 1436 00:56:46,240 --> 00:56:46,880 EXISTING KNOWLEDGE SOURCES I 1437 00:56:46,880 --> 00:56:48,880 WANT TO FOCUS ON TWO. 1438 00:56:48,880 --> 00:56:53,320 ONE IS A RESOURCE CALLED 1439 00:56:53,320 --> 00:56:55,400 ORPHANET AND THE TARGET IS 1440 00:56:55,400 --> 00:56:56,800 CLINICIANS AND RESEARCHERS WITH 1441 00:56:56,800 --> 00:56:59,160 THOUSANDS OF INFORMATION POINTS 1442 00:56:59,160 --> 00:57:02,920 IN TERMS OF DISEASES SUCH AS 1443 00:57:02,920 --> 00:57:05,360 RARE CANCERS AND WHAT SYMPTOMS 1444 00:57:05,360 --> 00:57:07,280 THEY'RE ASSOCIATED WITH OR 1445 00:57:07,280 --> 00:57:08,960 ORGANS AND TISSUES AND CODES 1446 00:57:08,960 --> 00:57:09,800 AVAILABLE FOR HEALTH CARE 1447 00:57:09,800 --> 00:57:12,240 SYSTEMS, AGE OF ONSET 1448 00:57:12,240 --> 00:57:15,040 INFORMATION AND MUCH MORE. 1449 00:57:15,040 --> 00:57:16,800 ANOTHER EXAMPLE RESOURCE TAR 1450 00:57:16,800 --> 00:57:19,800 GETTING CLINICIANS AND 1451 00:57:19,800 --> 00:57:21,800 RESEARCHERS IS THE OMIN RESEARCH 1452 00:57:21,800 --> 00:57:27,880 WITH THOUSANDS OF INFORMATION ON 1453 00:57:27,880 --> 00:57:31,600 DISEAS 1454 00:57:31,600 --> 00:57:33,120 DISEASES RELATED AND GENE 1455 00:57:33,120 --> 00:57:33,480 MUTATION. 1456 00:57:33,480 --> 00:57:35,240 THEY HAVE HUNDREDS OF CONCEPTS 1457 00:57:35,240 --> 00:57:36,520 UNDERSTOOD AND ADDED TO THE 1458 00:57:36,520 --> 00:57:36,920 DATABASE. 1459 00:57:36,920 --> 00:57:38,960 HOW CAN WE BUILD ON TOP OF THAT 1460 00:57:38,960 --> 00:57:40,280 RATHER THAN DOING THE SAME THING 1461 00:57:40,280 --> 00:57:42,400 AND BEING REDUNDANT? 1462 00:57:42,400 --> 00:57:45,240 FOR GARD, ONE OF OUR FOCUS IS 1463 00:57:45,240 --> 00:57:48,200 THINKING HOW TO REPURPOSE THIS 1464 00:57:48,200 --> 00:57:53,400 RESEARCH INFORMATION AND HOW WE 1465 00:57:53,400 --> 00:57:59,120 MIGHT BE ABLE TO USE THAT FOR 1466 00:57:59,120 --> 00:57:59,520 CONSUMER HEALTH. 1467 00:57:59,520 --> 00:58:02,160 WE'RE TRYING TO THINK OF HOW TO 1468 00:58:02,160 --> 00:58:04,560 TAKE THE INFORMATION THEY'VE 1469 00:58:04,560 --> 00:58:05,840 CONSTRUCTED AND USING IT TO PUSH 1470 00:58:05,840 --> 00:58:09,360 INFORMATION FOR PATIENT AND 1471 00:58:09,360 --> 00:58:11,440 CAREGIVER AUDIENCES. 1472 00:58:11,440 --> 00:58:13,320 AS ONE EXAMPLE HERE YOU CAN SEE 1473 00:58:13,320 --> 00:58:14,520 THE WEBSITE. 1474 00:58:14,520 --> 00:58:16,560 THIS IS VERY MUCH IN 1475 00:58:16,560 --> 00:58:16,960 DEVELOPMENT. 1476 00:58:16,960 --> 00:58:18,440 IT'S NOT REPRESENTATION OF A 1477 00:58:18,440 --> 00:58:19,320 FINAL PRODUCT. 1478 00:58:19,320 --> 00:58:20,760 IT'S A STARTING POINT AND PART 1479 00:58:20,760 --> 00:58:22,440 OF THIS HAS TO DO WITH WHAT WE 1480 00:58:22,440 --> 00:58:24,480 WANT TO DO IS WORK WITH THE 1481 00:58:24,480 --> 00:58:25,280 COMMUNITY TO BETTER UNDERSTAND 1482 00:58:25,280 --> 00:58:27,240 WHAT YOU WANT TO USE THIS 1483 00:58:27,240 --> 00:58:29,040 INFORMATION FOR AND THINK HOW WE 1484 00:58:29,040 --> 00:58:32,400 CAN THEN PUT IT IN A FORMAT THAT 1485 00:58:32,400 --> 00:58:33,560 MAKES SENSE TO CAREGIVERS AND 1486 00:58:33,560 --> 00:58:34,400 PATIENTS ONLINE. 1487 00:58:34,400 --> 00:58:37,200 HOW DO WE DO THIS FOR THOUSANDS 1488 00:58:37,200 --> 00:58:37,920 OF DISEASES? 1489 00:58:37,920 --> 00:58:39,120 WE'RE PULLING IN INFORMATION 1490 00:58:39,120 --> 00:58:41,400 FROM THOSE RESOURCE TO THINK OF 1491 00:58:41,400 --> 00:58:43,920 QUESTIONS SUCH AS AGE OF ONSET 1492 00:58:43,920 --> 00:58:45,160 SPECIFICALLY WHEN DO SYMPTOMS OF 1493 00:58:45,160 --> 00:58:46,360 A DISEASE BEGIN? 1494 00:58:46,360 --> 00:58:49,680 HOW CAN WE PERHAPS USE THE 1495 00:58:49,680 --> 00:58:50,960 INFORMATION TO THEN UNDERSTAND 1496 00:58:50,960 --> 00:58:53,000 TO UNDERSTAND RESOURCES BETTER 1497 00:58:53,000 --> 00:58:54,280 TARGETED TOWARDS PETE TRICK 1498 00:58:54,280 --> 00:58:55,160 PATIENTS OR CHILDREN? 1499 00:58:55,160 --> 00:58:56,800 AS AN EXAMPLE OF WHAT WE'RE 1500 00:58:56,800 --> 00:58:58,800 DOING WE'RE JUST TRYING TO PULL 1501 00:58:58,800 --> 00:59:01,040 IN THE INFORMATION FROM THOSE 1502 00:59:01,040 --> 00:59:01,760 DIFFERENT SYSTEMS. 1503 00:59:01,760 --> 00:59:05,400 YOU'LL SEE STUFF THAT DOESN'T 1504 00:59:05,400 --> 00:59:09,960 LOOK LIKE WHAT WE WANT SHARE IN 1505 00:59:09,960 --> 00:59:10,880 THE END BUT CREATE DIALOGUE STO 1506 00:59:10,880 --> 00:59:12,760 WE UNDERSTAND WHAT YOU NEED TO 1507 00:59:12,760 --> 00:59:14,080 KNOW TO UNDERSTAND THIS? 1508 00:59:14,080 --> 00:59:16,560 IS THIS A SIGN OR SYMPTOM A 1509 00:59:16,560 --> 00:59:19,360 DOCTOR HAS MENTIONED IN THE 1510 00:59:19,360 --> 00:59:21,400 OFFICE WITH THEM AND NOW HAVE TO 1511 00:59:21,400 --> 00:59:24,240 THINK WHAT INFORMATION WE SHOULD 1512 00:59:24,240 --> 00:59:26,200 PROVIDE? 1513 00:59:26,200 --> 00:59:29,240 IMAGES, PLAIN TEXT, DESCRIPTION 1514 00:59:29,240 --> 00:59:30,200 AND UNDERSTAND THAT IN 1515 00:59:30,200 --> 00:59:31,640 CONVERSATIONS WITH YOUR MEDICAL 1516 00:59:31,640 --> 00:59:31,840 TEAM. 1517 00:59:31,840 --> 00:59:33,840 ON TOP OF THAT WE'RE THINKING 1518 00:59:33,840 --> 00:59:36,640 ABOUT HOW WE CAN SCALE THIS OUT. 1519 00:59:36,640 --> 00:59:38,400 ONE OF THE THINGS JONI MENTIONED 1520 00:59:38,400 --> 00:59:39,720 EARLIER AND BROUGHT UP BY OTHERS 1521 00:59:39,720 --> 00:59:42,880 WAS THE NEED FOR EQUITY. 1522 00:59:42,880 --> 00:59:44,120 OFTEN TIMES WHEN YOU LOOK FOR 1523 00:59:44,120 --> 00:59:45,400 INFORMATION ONLINE FOR RARE 1524 00:59:45,400 --> 00:59:46,520 DISEASES YOU'LL FIND A LOT OF 1525 00:59:46,520 --> 00:59:47,360 INFORMATION ABOUT A COUPLE 1526 00:59:47,360 --> 00:59:49,600 HUNDRED AND USUALLY THOSE ARE 1527 00:59:49,600 --> 00:59:50,640 DISEASES WE MOST UNDERSTAND AND 1528 00:59:50,640 --> 00:59:52,280 HAVE THE HIGHEST NUMBER OF 1529 00:59:52,280 --> 00:59:53,520 PEOPLE THAT ARE AFFECTED BY 1530 00:59:53,520 --> 00:59:53,880 THEM. 1531 00:59:53,880 --> 00:59:55,920 WHAT WE WANT TO BE THINKING 1532 00:59:55,920 --> 00:59:57,240 ABOUT IS ALL 10,000 DISEASES AND 1533 00:59:57,240 --> 01:00:00,200 THINKING OF ALL THE WAYS WE NEED 1534 01:00:00,200 --> 01:00:01,360 TO PULL INFORMATION AND THINK 1535 01:00:01,360 --> 01:00:04,640 WHAT WE NEED TO PUT ON TO 1536 01:00:04,640 --> 01:00:06,040 BASICALLY SEARCH RESULTS WHEN A 1537 01:00:06,040 --> 01:00:07,840 PATIENT'S TRYING TO LOOK FOR 1538 01:00:07,840 --> 01:00:08,440 THAT. 1539 01:00:08,440 --> 01:00:10,840 AS PART OF THAT THIS MAY BE 1540 01:00:10,840 --> 01:00:11,680 ANSWERING SIMPLE QUESTIONS JUST 1541 01:00:11,680 --> 01:00:12,880 TRYING TO UNDERSTAND WHEN YOU'RE 1542 01:00:12,880 --> 01:00:14,440 TALKING TO A DOCTOR AND THEY'RE 1543 01:00:14,440 --> 01:00:16,440 MENTIONING YOU HAVE A GENETIC 1544 01:00:16,440 --> 01:00:17,280 DISEASE, WHAT'S THAT MEAN? 1545 01:00:17,280 --> 01:00:19,240 WHAT'S IT MEAN TO GET A GENETIC 1546 01:00:19,240 --> 01:00:19,600 TEST? 1547 01:00:19,600 --> 01:00:22,120 WHAT'S IT MEAN TO UNDERSTAND 1548 01:00:22,120 --> 01:00:25,080 INHERITANCE OR ISSUES THAT 1549 01:00:25,080 --> 01:00:26,960 AFFECT A FAMILY BECAUSE OF THAT? 1550 01:00:26,960 --> 01:00:28,040 I THINK OF THIS ALMOST LIKE 1551 01:00:28,040 --> 01:00:30,440 YOU'RE BUILDING A HOUSE. 1552 01:00:30,440 --> 01:00:32,080 WE CREATED A SCAFFOLDING AND 1553 01:00:32,080 --> 01:00:33,400 SAID HOW MANY ROOMS ARE 1554 01:00:33,400 --> 01:00:35,680 AVAILABLE IN THE FIRST FLOOR AND 1555 01:00:35,680 --> 01:00:37,880 SECOND FLOOR AND HAVEN'T FILLED 1556 01:00:37,880 --> 01:00:40,440 IN THE WALL PAPER OR APPLIANCES 1557 01:00:40,440 --> 01:00:42,560 AND THAT'S WHAT WE NEED NEXT 1558 01:00:42,560 --> 01:00:46,280 WITH YOUR HELP. 1559 01:00:46,280 --> 01:00:51,440 I STARTED THE FOCUS ON THE 1560 01:00:51,440 --> 01:00:56,360 DIAGNOSTIC ODYSSEY AND LOOKING 1561 01:00:56,360 --> 01:00:57,880 AT OTHERS ORGANIZATIONS 1562 01:00:57,880 --> 01:00:58,760 INFORMATION AROUND RARE DISEASE 1563 01:00:58,760 --> 01:01:00,000 AROUND CLINICAL SYSTEMS AND 1564 01:01:00,000 --> 01:01:01,800 CODING AND WE'VE STARTED TO 1565 01:01:01,800 --> 01:01:04,200 THINK CAN WE USE THAT TO THEN 1566 01:01:04,200 --> 01:01:07,080 SAY WHEN A PATIENT STARTS THEIR 1567 01:01:07,080 --> 01:01:07,680 DIAGNOSTIC PROCESS AND THEIR 1568 01:01:07,680 --> 01:01:10,320 FIRST STEP AFTER TALKING TO 1569 01:01:10,320 --> 01:01:12,280 PRIMARY CARE, WHICH SPECIALIST 1570 01:01:12,280 --> 01:01:16,680 DO WE NEED TO SEE? 1571 01:01:16,680 --> 01:01:19,200 MAYBE A GENETICISTS OR 1572 01:01:19,200 --> 01:01:19,560 NEUROLOGIST. 1573 01:01:19,560 --> 01:01:21,080 HERE'S A LINK TO AMERICAN 1574 01:01:21,080 --> 01:01:24,680 COLLEGE OF MEDICAL GENETICS AND 1575 01:01:24,680 --> 01:01:28,200 GENOMICS WHERE TO FIND THAT 1576 01:01:28,200 --> 01:01:28,600 GENETICISTS. 1577 01:01:28,600 --> 01:01:31,720 AGAIN, THIS IS TO THE WAY WE WE 1578 01:01:31,720 --> 01:01:33,800 ENVISION THIS NOT TRYING TO 1579 01:01:33,800 --> 01:01:35,360 REINVENT THE WHEEL BUT THINKING 1580 01:01:35,360 --> 01:01:36,920 WHAT IT IS PATIENTS ARE LOOKING 1581 01:01:36,920 --> 01:01:38,760 FOR AND HOW TO USE EXISTING 1582 01:01:38,760 --> 01:01:39,840 RESEARCH INFORMATION TO HELP 1583 01:01:39,840 --> 01:01:45,280 SUPPORT THEM IN THEIR JOURNEY. 1584 01:01:45,280 --> 01:01:47,240 I WANT TO NOTE WE'RE ONLY JUST 1585 01:01:47,240 --> 01:01:48,160 GETTING STARTED. 1586 01:01:48,160 --> 01:01:50,960 MANY CHANGES WILL BE COMING AND 1587 01:01:50,960 --> 01:01:51,880 AGAIN MUCH OF THE WORK STILL 1588 01:01:51,880 --> 01:01:54,800 NEEDS TO BE DONE ON THIS WE'RE 1589 01:01:54,800 --> 01:01:56,400 WORKING ON A LARGE UPLOAD OF NEW 1590 01:01:56,400 --> 01:01:56,760 DATA. 1591 01:01:56,760 --> 01:01:59,120 CURRENTLY ON THE WEBSITE WE ONLY 1592 01:01:59,120 --> 01:02:02,240 ARE USING SOME OF THAT DATA TO 1593 01:02:02,240 --> 01:02:03,920 REPRESENT 2500 DIFFERENT DISEASE 1594 01:02:03,920 --> 01:02:04,160 PAGES. 1595 01:02:04,160 --> 01:02:05,720 WE'LL ALMOST DOUBLE THAT IN THE 1596 01:02:05,720 --> 01:02:07,360 COMING MONTHS AND EXPECT TO BE 1597 01:02:07,360 --> 01:02:08,680 ABLE TO DO MORE AS WE THINK 1598 01:02:08,680 --> 01:02:10,560 ABOUT ALL THE OTHER QUESTIONS WE 1599 01:02:10,560 --> 01:02:12,960 NEED TO ANSWER AND WHERE THERE 1600 01:02:12,960 --> 01:02:13,880 MAY BE DATA RESOURCES OR 1601 01:02:13,880 --> 01:02:15,800 INFORMATION TO HELP SUPPORT 1602 01:02:15,800 --> 01:02:16,800 THAT. 1603 01:02:16,800 --> 01:02:17,800 UNFORTUNATELY IN THE MEANTIME 1604 01:02:17,800 --> 01:02:19,000 WHAT THAT'S GOING TO MEAN IS 1605 01:02:19,000 --> 01:02:21,080 YOU'LL SEE PAGES THAT LOOK LIKE 1606 01:02:21,080 --> 01:02:22,080 THIS WHERE YOU'LL SEE THIS 1607 01:02:22,080 --> 01:02:24,560 SECTION IS CURRENTLY IN 1608 01:02:24,560 --> 01:02:24,920 DEVELOPMENT. 1609 01:02:24,920 --> 01:02:27,920 OUR GOAL IS WE'RE APPLYING USER 1610 01:02:27,920 --> 01:02:29,080 EXPERIENCE AND HEALTH LITERACY 1611 01:02:29,080 --> 01:02:30,840 BEST PRACTICES IN OUR WEBSITE. 1612 01:02:30,840 --> 01:02:33,360 WE'RE BUILDING IT OUT AS WE GO 1613 01:02:33,360 --> 01:02:36,120 NOT WITH THE IDEA OF MAKE IT 1614 01:02:36,120 --> 01:02:38,360 PERFECT FROM THE START BUT MAKE 1615 01:02:38,360 --> 01:02:40,640 SURE WE'RE ADDRESSING YOUR NEEDS 1616 01:02:40,640 --> 01:02:44,160 AND COMMUNITY'S NEEDS AT A 1617 01:02:44,160 --> 01:02:44,440 WHOLE. 1618 01:02:44,440 --> 01:02:47,400 EXPECT TO SEE CHANGES. 1619 01:02:47,400 --> 01:02:48,760 VISIT THE GARD BOOTH FOR A SNEAK 1620 01:02:48,760 --> 01:02:50,520 PEEK OF WHAT WE'RE STARTING TO 1621 01:02:50,520 --> 01:02:52,760 DO AND SHARE YOUR INPUT AND HELP 1622 01:02:52,760 --> 01:02:54,440 US UNDERSTAND HOW TO PUT THE 1623 01:02:54,440 --> 01:02:55,880 INFORMATION TOGETHER IN A WAY 1624 01:02:55,880 --> 01:02:57,240 THAT MAKES SENSE FOR NEW 1625 01:02:57,240 --> 01:02:58,280 PATIENTS WITH RARE DISEASE 1626 01:02:58,280 --> 01:03:00,280 STARTING OUT THEIR DIAGNOSTIC 1627 01:03:00,280 --> 01:03:01,200 ODYSSEY. 1628 01:03:01,200 --> 01:03:03,440 AGAIN, THIS IS ONE OF SEVERAL 1629 01:03:03,440 --> 01:03:05,360 EFFORTS HERE AT NCATS AND WITHIN 1630 01:03:05,360 --> 01:03:07,160 THE NIH AS A WLOEL. 1631 01:03:07,160 --> 01:03:09,560 I WANTED TO NOTE SOME ARE 1632 01:03:09,560 --> 01:03:09,800 RELATED. 1633 01:03:09,800 --> 01:03:10,760 THANK YOU. 1634 01:03:10,760 --> 01:03:12,680 I'LL NOW HAND IT OFF TO 1635 01:03:12,680 --> 01:03:13,640 COLLEAGUES TO TALK ABOUT ANOTHER 1636 01:03:13,640 --> 01:03:24,200 PROGRAM RARE SOURCE. 1637 01:03:24,200 --> 01:03:27,000 >> WELCOME WE'RE HAPPY TO 1638 01:03:27,000 --> 01:03:27,640 BE ABLE TO CONNECT AGAIN. 1639 01:03:27,640 --> 01:03:29,760 IT'S GREAT TO BE BACK AND SEE 1640 01:03:29,760 --> 01:03:30,120 EVERYBODY. 1641 01:03:30,120 --> 01:03:32,840 TODAY, WE WANTED TO TALK 1642 01:03:32,840 --> 01:03:34,440 ABOUT -- I'M ELIZABETH OTTINGER 1643 01:03:34,440 --> 01:03:37,480 THE ACTING DIRECTOR OF OUR 1644 01:03:37,480 --> 01:03:39,360 THERAPEUTIC DEVELOPMENT BRANCH 1645 01:03:39,360 --> 01:03:43,280 WHICH IS AN INTRAMURAL BRANCH 1646 01:03:43,280 --> 01:03:45,360 WHERE WE WORK WITH VARIOUS 1647 01:03:45,360 --> 01:03:48,680 PARTNERS FROM ACADEMICS, 1648 01:03:48,680 --> 01:03:50,520 INDUSTRY AND GOVERNMENT TO MOVE 1649 01:03:50,520 --> 01:03:51,760 THERAPEUTIC DEVELOPMENT THROUGH 1650 01:03:51,760 --> 01:03:54,960 THE PRE-CLINICAL DEVELOPMENT 1651 01:03:54,960 --> 01:03:55,200 PIPELINE. 1652 01:03:55,200 --> 01:03:58,960 AND I'M HERE TO INTRODUCE AND 1653 01:03:58,960 --> 01:04:01,600 WE'RE EXCITED TO SHOW EVERYONE 1654 01:04:01,600 --> 01:04:07,000 VERSION 1 OF WHAT WE BUILT, RARE 1655 01:04:07,000 --> 01:04:09,760 SOURCE AN INTEGRATED BIO 1656 01:04:09,760 --> 01:04:10,760 INFORMATIC RESOURCE. 1657 01:04:10,760 --> 01:04:12,000 I'LL DO A FEW SLIDES TO 1658 01:04:12,000 --> 01:04:13,960 INTRODUCE THE CONCEPT AND HOW WE 1659 01:04:13,960 --> 01:04:15,080 STARTED THE DEVELOPMENT AND THEN 1660 01:04:15,080 --> 01:04:25,600 HAND IT OVER TO UMA MUDINURI AT 1661 01:04:28,520 --> 01:04:29,160 IN THE COLLABORATIVE EFFORT. 1662 01:04:29,160 --> 01:04:33,360 AS WE SAID EVERYTHING WE DO AT 1663 01:04:33,360 --> 01:04:35,080 NCATS IN A COLLABORATIVE AND 1664 01:04:35,080 --> 01:04:36,440 INTEGRATIVE MANNER TO WORK 1665 01:04:36,440 --> 01:04:46,640 TOGETHER. 1666 01:05:11,160 --> 01:05:12,200 THERE'S A RARE DISEASE PUBLIC 1667 01:05:12,200 --> 01:05:14,080 HEALTH CHALLENGE WE'RE WORKING 1668 01:05:14,080 --> 01:05:15,840 ON TOGETHER AND WE'RE WORKING 1669 01:05:15,840 --> 01:05:17,160 TOGETHER TO SPEED UP THE SEARCH 1670 01:05:17,160 --> 01:05:17,680 FOR SOLUTIONS. 1671 01:05:17,680 --> 01:05:20,320 HOW CAN WE MAKE IT EASIER AND 1672 01:05:20,320 --> 01:05:23,360 MORE EFFICIENT TO MAKE ACCESS 1673 01:05:23,360 --> 01:05:25,560 AND USE AVAILABLE DATA TO 1674 01:05:25,560 --> 01:05:27,120 DISCOVER TREATMENT FOR RARE 1675 01:05:27,120 --> 01:05:27,560 DISEASES? 1676 01:05:27,560 --> 01:05:30,520 AS YOU KNOW, THE MAJORITY OF 1677 01:05:30,520 --> 01:05:33,360 RARE DISEASES HAVE A GENETIC 1678 01:05:33,360 --> 01:05:36,440 ETIOLOGY AND SO BEING ABLE TO 1679 01:05:36,440 --> 01:05:41,720 HAVE ACCESS TO GENOMIC, 1680 01:05:41,720 --> 01:05:43,920 MOLECULAR, PHENOTYPIC AND 1681 01:05:43,920 --> 01:05:45,200 FUNCTIONAL DATA IS CRITICAL. 1682 01:05:45,200 --> 01:05:47,160 HOWEVER, THERE'S CHALLENGES 1683 01:05:47,160 --> 01:05:50,040 BECAUSE MUCH OF THIS DATA IS 1684 01:05:50,040 --> 01:05:52,800 OFTEN DISTRIBUTED OVER A WIDE 1685 01:05:52,800 --> 01:05:54,520 RANGE OF AREAS AND DATA SETS AND 1686 01:05:54,520 --> 01:05:56,160 IT'S HOW DO WE BRING THOSE 1687 01:05:56,160 --> 01:05:56,440 TOGETHER. 1688 01:05:56,440 --> 01:05:59,320 HOW CAN WE BRING THAT DATA 1689 01:05:59,320 --> 01:06:00,600 TOGETHER? 1690 01:06:00,600 --> 01:06:03,520 AGAIN, IT'S BEING ABLE TO ACCESS 1691 01:06:03,520 --> 01:06:05,760 THAT DATA WHICH IS VERY CRITICAL 1692 01:06:05,760 --> 01:06:07,880 AND THEN UTILIZE, INTEGRATE AND 1693 01:06:07,880 --> 01:06:08,960 HARMONIZE THE DATA. 1694 01:06:08,960 --> 01:06:11,240 AGAIN, HOW DO WE USE THE DATA IN 1695 01:06:11,240 --> 01:06:13,400 ORDER TO GAIN INSIGHTS ABOUT 1696 01:06:13,400 --> 01:06:15,120 RARE DISEASES AND FURTHER OUR 1697 01:06:15,120 --> 01:06:16,200 ABILITY TO DEVELOP NEW 1698 01:06:16,200 --> 01:06:16,520 THERAPIES? 1699 01:06:16,520 --> 01:06:20,720 SO IF YOU LOOK, DATA IS THE 1700 01:06:20,720 --> 01:06:21,040 FOUNDATION. 1701 01:06:21,040 --> 01:06:22,600 IT'S THE BEGINNING BUILDING 1702 01:06:22,600 --> 01:06:24,480 BLOCK YOU HAVE IN ORDER TO KEEP 1703 01:06:24,480 --> 01:06:26,640 BUILDING VALUE IN YOUR SYSTEM 1704 01:06:26,640 --> 01:06:28,280 UNTIL YOU GET MORE INFORMATION, 1705 01:06:28,280 --> 01:06:29,080 KNOWLEDGE AND THEN FURTHER 1706 01:06:29,080 --> 01:06:31,120 INSIDE INTO RARE DISEASES. 1707 01:06:31,120 --> 01:06:33,520 SO AGAIN, WE'RE HOPING TO BUILD 1708 01:06:33,520 --> 01:06:37,280 A SOLUTION THAT WE CAN WORK WITH 1709 01:06:37,280 --> 01:06:39,360 RESEARCHERS OR COMMUNITY OR 1710 01:06:39,360 --> 01:06:41,360 WHOLE RARE DISEASE COMMUNITY 1711 01:06:41,360 --> 01:06:42,360 CLINICIANS AND AGAIN RARE 1712 01:06:42,360 --> 01:06:43,440 PATIENT ADVOCATES IN ORDER FOR 1713 01:06:43,440 --> 01:06:48,400 THEM TO HAVE MORE ACCESS AND 1714 01:06:48,400 --> 01:06:50,480 AVAILABILITY TO THIS DATA. 1715 01:06:50,480 --> 01:06:52,320 HOW DID WE GO ABOUT THIS 1716 01:06:52,320 --> 01:06:58,280 DEVELOPMENT OF THIS INTEGRATIVE 1717 01:06:58,280 --> 01:06:59,280 BIOINFORMATICS RESEARCH AND THE 1718 01:06:59,280 --> 01:07:00,840 VERSION ONE IS A WORK IN 1719 01:07:00,840 --> 01:07:01,080 PROGRESS. 1720 01:07:01,080 --> 01:07:03,000 WE WANT FEEDBACK AND INTERACTION 1721 01:07:03,000 --> 01:07:03,920 WITH THE COMMUNITY TO UNDERSTAND 1722 01:07:03,920 --> 01:07:05,080 HOW THIS CAN BE A BETTER 1723 01:07:05,080 --> 01:07:08,560 RESOURCE FOR ALL OF YOU. 1724 01:07:08,560 --> 01:07:11,560 WHAT OUR GOAL WAS TO CREATE A 1725 01:07:11,560 --> 01:07:13,200 SEARCHABLE, ACCESSIBLE AND 1726 01:07:13,200 --> 01:07:14,240 USER-FRIENDLY RESOURCE AND 1727 01:07:14,240 --> 01:07:14,520 INTERFACE. 1728 01:07:14,520 --> 01:07:16,360 THE WAY WE WENT ABOUT IT IS WE 1729 01:07:16,360 --> 01:07:18,880 FIRST DID A TRAINING. 1730 01:07:18,880 --> 01:07:22,080 WE USED A COUPLE OF IN-HOUSE 1731 01:07:22,080 --> 01:07:25,680 PROJECTS WHERE WE'RE DOING DRUG 1732 01:07:25,680 --> 01:07:28,840 DEVELOPMENT AND TRANSPORTER 1733 01:07:28,840 --> 01:07:35,320 DISEASE AND USED IT THROUGH 1734 01:07:35,320 --> 01:07:39,360 MANUAL CREATION OF THE KNOWN ALL 1735 01:07:39,360 --> 01:07:41,560 RIGHT -- LITERATURE AND WE ARE 1736 01:07:41,560 --> 01:07:43,800 NOT REINVENTING THE WHEEL BUT 1737 01:07:43,800 --> 01:07:45,360 BRINGING TOGETHER AND 1738 01:07:45,360 --> 01:07:48,400 INTEGRATING INFORMATION THAT 1739 01:07:48,400 --> 01:07:58,680 ALREADY EXISTS. 1740 01:07:59,720 --> 01:08:02,280 WE'D LIKE TO APPLY NATURAL 1741 01:08:02,280 --> 01:08:03,640 LANGUAGE PROCESSING TO AUTOMATE 1742 01:08:03,640 --> 01:08:06,200 AND EXTRACT THE INFORMATION FROM 1743 01:08:06,200 --> 01:08:07,880 THE LITERATURE AND OUR ULTIMATE 1744 01:08:07,880 --> 01:08:10,120 GOAL IS HOW DO WE EXPAND IT AND 1745 01:08:10,120 --> 01:08:13,440 SCALE IT TO THE THOUSANDS OF 1746 01:08:13,440 --> 01:08:13,760 RARE DISEASES? 1747 01:08:13,760 --> 01:08:15,360 IF YOU LOOK ON THE RIGHT, THIS 1748 01:08:15,360 --> 01:08:17,440 IS THE WEBSITE YOU WILL COME TO 1749 01:08:17,440 --> 01:08:20,000 IF YOU GO TO OUR WEBSITE AND 1750 01:08:20,000 --> 01:08:23,080 AGAIN THIS IS A WORK IN PROGRESS 1751 01:08:23,080 --> 01:08:24,720 WE'RE BUILDING BUT OUR ULTIMATE 1752 01:08:24,720 --> 01:08:27,880 GOAL IS TO HOPE TO UNLOCK NOVEL 1753 01:08:27,880 --> 01:08:30,280 INSIGHTS INTO RARE DISEASE 1754 01:08:30,280 --> 01:08:30,880 COMMONALITIES THROUGH THIS 1755 01:08:30,880 --> 01:08:37,720 MULTIMODAL DATA INTEGRATION. 1756 01:08:37,720 --> 01:08:41,720 HERE'S THE WEBSITE ON THE TOP 1757 01:08:41,720 --> 01:08:43,440 AND THIS IS THE TYPE OF 1758 01:08:43,440 --> 01:08:44,800 INFORMATION WE STARTED WITH THE 1759 01:08:44,800 --> 01:08:48,080 GENOMIC WITH OUR GENES AND THE 1760 01:08:48,080 --> 01:08:49,120 VARIANTS AND UNDERSTANDING THE 1761 01:08:49,120 --> 01:08:53,280 PROTEINS IN THE DISEASE AND 1762 01:08:53,280 --> 01:08:56,160 BRINGING THOSE TOGETHER. 1763 01:08:56,160 --> 01:08:58,240 WE'LL FOCUS ON THE LINK TO 1764 01:08:58,240 --> 01:08:59,480 LITERATURE EFFORTS AND WHY THAT 1765 01:08:59,480 --> 01:09:01,720 CAN BE CRITICAL AND HELP IN RARE 1766 01:09:01,720 --> 01:09:03,360 DISEASE WITH GENETIC ETIOLOGY 1767 01:09:03,360 --> 01:09:05,120 AND THE RARE DISEASES GENES AND 1768 01:09:05,120 --> 01:09:08,000 HOW THE SYSTEM CAN HOPEFULLY 1769 01:09:08,000 --> 01:09:09,640 MAKE IT EASIER FOR PEOPLE TO 1770 01:09:09,640 --> 01:09:10,560 ACCESS THAT INFORMATION. 1771 01:09:10,560 --> 01:09:14,400 IT HAS CURATION OF THE GENE 1772 01:09:14,400 --> 01:09:15,040 VARYING ASSOCIATIONS FROM THE 1773 01:09:15,040 --> 01:09:16,400 LITERATURE AND DATABASES AND 1774 01:09:16,400 --> 01:09:18,320 IMPACT ANALYSIS PREDICTIONS. 1775 01:09:18,320 --> 01:09:22,240 THAT HAS BEEN INTEGRATED WITH 1776 01:09:22,240 --> 01:09:25,280 3-D PROTEIN STRUCTURE TO 1777 01:09:25,280 --> 01:09:28,360 VISUALIZE THE ANNOTATED 1778 01:09:28,360 --> 01:09:28,680 VARIANTS. 1779 01:09:28,680 --> 01:09:29,760 AGAIN THIS IS PROGRESS WE'LL 1780 01:09:29,760 --> 01:09:33,360 CONTINUE TO BUILD TO ADD MORE 1781 01:09:33,360 --> 01:09:35,760 INFORMATION IN THE CHEMISTRY, 1782 01:09:35,760 --> 01:09:41,640 PHENOTYPE, FUNCTIONAL ASPECTS OF 1783 01:09:41,640 --> 01:09:46,080 ALL THE INFORMATION SO AGAIN TO 1784 01:09:46,080 --> 01:09:48,080 FIND NEW WAYS TO FIND 1785 01:09:48,080 --> 01:09:49,160 THERAPEUTICS FOR RARE DISEASES. 1786 01:09:49,160 --> 01:09:51,200 OVER TO UMA. 1787 01:09:51,200 --> 01:09:53,640 >> IN MY PART OF THE 1788 01:09:53,640 --> 01:09:56,000 PRESENTATION I'LL GOING TO FOCUS 1789 01:09:56,000 --> 01:09:58,360 ON WHAT LIZ WAS POINTING TO HOW 1790 01:09:58,360 --> 01:10:02,080 WE GOT HERE FOCUSSING AND 1791 01:10:02,080 --> 01:10:03,920 TALKING ABOUT THE LITERATURE 1792 01:10:03,920 --> 01:10:06,040 MAINLY AND FOR US WE'RE 1793 01:10:06,040 --> 01:10:08,080 FOCUSSING ON RARE DISEASES THAT 1794 01:10:08,080 --> 01:10:10,600 HAVE A GENETIC ASSOCIATION 1795 01:10:10,600 --> 01:10:12,640 MEANING ONE OR MORE CHANGES IN 1796 01:10:12,640 --> 01:10:14,080 THE GENOME IS CAUSING THE RARE 1797 01:10:14,080 --> 01:10:16,200 DISEASE AND WE'RE TRYING TO 1798 01:10:16,200 --> 01:10:18,080 UNDERSTAND HOW THOSE CHANGES ARE 1799 01:10:18,080 --> 01:10:18,880 IMPACTING US. 1800 01:10:18,880 --> 01:10:21,400 HOW DO WE GET FROM THIS CHANGE 1801 01:10:21,400 --> 01:10:24,520 TO THE DISEASE ITSELF AND AS LIZ 1802 01:10:24,520 --> 01:10:25,720 SHARED IN HER FIRST SLIDE WAS 1803 01:10:25,720 --> 01:10:31,640 THE FIRST STEP FOR US IS TO BE 1804 01:10:31,640 --> 01:10:32,440 ABLE TO GET TO ALL THE 1805 01:10:32,440 --> 01:10:38,160 INFORMATION AND DATA OUT THERE 1806 01:10:38,160 --> 01:10:41,000 AND FILTER THE DATA SETS TO OUR 1807 01:10:41,000 --> 01:10:42,160 SPECIFIC GENES OF INTEREST. 1808 01:10:42,160 --> 01:10:43,960 WE'RE JUST LOOKING AT THOSE 1809 01:10:43,960 --> 01:10:46,280 ASSOCIATED WITH RARE DISEASES 1810 01:10:46,280 --> 01:10:48,240 AND THEN WE SAID NOW WE HAVE ALL 1811 01:10:48,240 --> 01:10:50,560 THESE MILLIONS OF VARIANTS, WHAT 1812 01:10:50,560 --> 01:10:52,800 DO THEY MEAN? 1813 01:10:52,800 --> 01:10:54,280 WE LOOKED AT OPEN SOURCE TOOLS 1814 01:10:54,280 --> 01:10:56,880 TO GET INFORMATION ON EACH 1815 01:10:56,880 --> 01:10:57,120 VARIANTS. 1816 01:10:57,120 --> 01:11:05,200 WHERE IS IT LOCATED AND 1817 01:11:05,200 --> 01:11:08,440 INTEGRATED ALL THE DATA AND 1818 01:11:08,440 --> 01:11:11,320 PRESENTED IT ON THE WEBSITE AS 1819 01:11:11,320 --> 01:11:17,760 3-D VISUALIZATIONS AND AS WE 1820 01:11:17,760 --> 01:11:19,040 LOOKED THROUGH WE KNOW MOST THE 1821 01:11:19,040 --> 01:11:20,160 INFORMATION WILL BE BURIED IN 1822 01:11:20,160 --> 01:11:20,880 PUBLISHED LITERATURE BECAUSE 1823 01:11:20,880 --> 01:11:22,920 MOST OF US AS RESEARCHERS WHEN 1824 01:11:22,920 --> 01:11:26,080 WE FIND SOMETHING THERE'S A NEW 1825 01:11:26,080 --> 01:11:28,400 EXPERIMENT AND A NOVEL FINDING 1826 01:11:28,400 --> 01:11:30,800 WE FIRST PUBLISH IT AS A 1827 01:11:30,800 --> 01:11:31,840 PEER-REVIEWED ARTICLE. 1828 01:11:31,840 --> 01:11:33,400 WHAT IF THE INFORMATION IS 1829 01:11:33,400 --> 01:11:36,400 BURIED OVER THERE AND WE DON'T 1830 01:11:36,400 --> 01:11:40,120 HAVE ACCESS THROUGH AN EASY TO 1831 01:11:40,120 --> 01:11:41,800 DOWNLOAD INTERFACE. 1832 01:11:41,800 --> 01:11:44,040 SOME HAVE ASKED THIS AND 1833 01:11:44,040 --> 01:11:45,040 DEVELOPED TOOLS TO GATHER 1834 01:11:45,040 --> 01:11:45,960 INFORMATION FROM THE LITERATURE. 1835 01:11:45,960 --> 01:11:48,680 WE LOOKED AT THOSE TOOLS AND 1836 01:11:48,680 --> 01:11:51,400 TRYING TO UNDERSTAND WHAT THEY 1837 01:11:51,400 --> 01:11:55,640 CONTAIN AND THEN WE DID A PILOT 1838 01:11:55,640 --> 01:11:58,680 STUDY WITH DISEASES. 1839 01:11:58,680 --> 01:12:03,400 AND OUR CURATOR LOOKED THROUGH 1840 01:12:03,400 --> 01:12:09,200 THE ARTICLES AND THE DISEASE IS 1841 01:12:09,200 --> 01:12:11,280 STILL ONGOING AND WE COMPARED 1842 01:12:11,280 --> 01:12:16,080 WITH THE EXISTING KNOWN 1843 01:12:16,080 --> 01:12:19,560 INFORMATION AND ARE THESE GAPS 1844 01:12:19,560 --> 01:12:21,120 VIABLE FOR US TO GO AND EXPLORE. 1845 01:12:21,120 --> 01:12:24,360 THIS IS A REAL NEED FOR THE 1846 01:12:24,360 --> 01:12:25,640 COMMUNITY AND YES, THERE'S STILL 1847 01:12:25,640 --> 01:12:28,760 A NEED TO EXPLORE THAT AND SCALE 1848 01:12:28,760 --> 01:12:30,440 THE EFFORT THROUGH THE THOUSANDS 1849 01:12:30,440 --> 01:12:32,880 OF RARE DISEASES OUT THERE AND 1850 01:12:32,880 --> 01:12:34,440 WE DID REACH OUT TO THE NATIONAL 1851 01:12:34,440 --> 01:12:35,960 LIBRARY OF MEDICINE BECAUSE 1852 01:12:35,960 --> 01:12:37,080 THEY'RE THE EXPERTS IN THIS 1853 01:12:37,080 --> 01:12:37,280 FIELD. 1854 01:12:37,280 --> 01:12:41,040 WE FOUND SOME COLLABORATIONS 1855 01:12:41,040 --> 01:12:41,480 OVER THERE AS WELL. 1856 01:12:41,480 --> 01:12:44,400 AND NOW WE'VE IMPLEMENTED THE 1857 01:12:44,400 --> 01:12:48,760 LANGUAGE MODELS WHERE WE LOOKED 1858 01:12:48,760 --> 01:12:50,760 AT THE NOVEL MODELS WHERE THEY 1859 01:12:50,760 --> 01:12:52,400 CAN IDENTIFY DISEASES AND GENES 1860 01:12:52,400 --> 01:12:55,040 FROM ANY KIND OF TITLE AND 1861 01:12:55,040 --> 01:12:56,680 ABSTRACTS THROUGH THE ENTIRE 1862 01:12:56,680 --> 01:12:57,560 MEDLINE. 1863 01:12:57,560 --> 01:12:59,480 WE INTEGRATED WITH GARD BECAUSE 1864 01:12:59,480 --> 01:13:01,280 THEY'RE DOING ALL THE DISEASE 1865 01:13:01,280 --> 01:13:03,040 HARMONIZATION FOR US AND 1866 01:13:03,040 --> 01:13:06,280 INTEGRATED TO GET THE GENE NAMES 1867 01:13:06,280 --> 01:13:12,040 AND THEN USING THESE RESULTS WE 1868 01:13:12,040 --> 01:13:14,720 NOW HAVE A LITERATURE A.I. 1869 01:13:14,720 --> 01:13:17,760 FEATURE AVAILABLE. 1870 01:13:17,760 --> 01:13:21,360 I'M GOING TO RUN THROUGH A FAST 1871 01:13:21,360 --> 01:13:23,560 PACE THE BROWSE FEATURE IS WHERE 1872 01:13:23,560 --> 01:13:27,000 YOU CAN ACCESS THE LITERATURE 1873 01:13:27,000 --> 01:13:29,960 A.I. YOU CAN SEARCH USING A RARE 1874 01:13:29,960 --> 01:13:33,440 DISEASE NAME OR GENE NAME AND 1875 01:13:33,440 --> 01:13:35,760 SEE THE ASSOCIATED RESULTS WHERE 1876 01:13:35,760 --> 01:13:38,120 THE TITLE ITSELF IS AVAILABLE 1877 01:13:38,120 --> 01:13:39,920 AND LINKED BACK TO PUB MED AND 1878 01:13:39,920 --> 01:13:41,720 YOU CAN READ THROUGH THE ARTICLE 1879 01:13:41,720 --> 01:13:44,200 IF THAT'S OF INTEREST AND SHOW 1880 01:13:44,200 --> 01:13:45,520 TRENDS ON THE PARTICULAR GENE OR 1881 01:13:45,520 --> 01:13:46,720 DISEASE OVER THE YEARS AS WELL 1882 01:13:46,720 --> 01:13:49,120 AS THE TALK JOURNALS WHERE THE 1883 01:13:49,120 --> 01:13:50,200 LITERATURE FOR THAT PARTICULAR 1884 01:13:50,200 --> 01:13:51,680 GENE OR DISEASE HAS BEEN 1885 01:13:51,680 --> 01:13:51,960 PUBLISHED. 1886 01:13:51,960 --> 01:13:55,000 THE SAME IS ALSO AVAILABLE IN A 1887 01:13:55,000 --> 01:13:56,520 COMBINATION SO YOU CAN SAY IF 1888 01:13:56,520 --> 01:13:59,600 I'M INTERESTED IN A RARE DISEASE 1889 01:13:59,600 --> 01:14:05,320 OR GENE WHAT ARE THE ASSOCIATED 1890 01:14:05,320 --> 01:14:12,400 DISEASES OR GENES? 1891 01:14:12,400 --> 01:14:17,520 YOU CAN EXPORT OUT THE TABLE AND 1892 01:14:17,520 --> 01:14:20,040 LOOK AT THE ALGORITHMS AND 1893 01:14:20,040 --> 01:14:24,000 MODELS AND DATABASE QUERIES. 1894 01:14:24,000 --> 01:14:26,800 OUR CURRENT STATUS IN ACTIVE 1895 01:14:26,800 --> 01:14:28,080 DEVELOPMENT WE'LL LOVE ALL THE 1896 01:14:28,080 --> 01:14:30,000 FEEDBACK THAT WE CAN GET. 1897 01:14:30,000 --> 01:14:35,920 WE'RE LOOKING TO CONTINUOUSLY 1898 01:14:35,920 --> 01:14:38,480 IMPROVE AND BECAUSE WE HAVE 1899 01:14:38,480 --> 01:14:41,200 COLLABORATIVE MEETINGS WE HAVE 1900 01:14:41,200 --> 01:14:44,040 242 RARE DISEASES WITH A GENETIC 1901 01:14:44,040 --> 01:14:46,000 ASSOCIATION AS WELL AS CLOSE TO 1902 01:14:46,000 --> 01:14:47,400 3,000 GENES TO BE EXPLORED 1903 01:14:47,400 --> 01:14:48,800 THROUGH THE RESOURCE. 1904 01:14:48,800 --> 01:14:52,440 WE ARE PLANNING TO RELEASE ALL 1905 01:14:52,440 --> 01:14:54,880 THE FEATURES PERIODICALLY. 1906 01:14:54,880 --> 01:14:57,040 FOR OUR FUTURE PLANS NEAR TERM 1907 01:14:57,040 --> 01:15:00,000 IS INTEGRATING THE MINING 1908 01:15:00,000 --> 01:15:01,120 ALGORITHMS DEVELOPED BY NLM AND 1909 01:15:01,120 --> 01:15:02,960 TRYING TO IMPLEMENT MODELS FOR 1910 01:15:02,960 --> 01:15:04,120 MINING THE CLINICAL AND 1911 01:15:04,120 --> 01:15:04,880 FUNCTIONAL CONTEXT ITSELF FROM 1912 01:15:04,880 --> 01:15:08,960 THE ARTICLE. 1913 01:15:08,960 --> 01:15:13,840 AND THIS IS OUR WONDERFUL TEAM. 1914 01:15:13,840 --> 01:15:17,840 THERE'S A BIG EFFORT HERE IN 10 1915 01:15:17,840 --> 01:15:27,240 MINUTES OF A PRESENTATION. 1916 01:15:27,240 --> 01:15:28,400 THERE'S A THERAPEUTIC 1917 01:15:28,400 --> 01:15:29,960 DEVELOPMENT BRANCH WITH A POSTER 1918 01:15:29,960 --> 01:15:31,320 AND FOR RARE DISEASE WE'RE 1919 01:15:31,320 --> 01:15:34,440 PLANNING TO DO LIVE DEMOS AT THE 1920 01:15:34,440 --> 01:15:34,960 BOOTH. 1921 01:15:34,960 --> 01:15:36,800 IF YOU CAN GIVE IT A TRY AND 1922 01:15:36,800 --> 01:15:38,400 GIVE US YOUR OPINION ON THE 1923 01:15:38,400 --> 01:15:41,280 FEATURE AND WHAT WE CAN DO TO 1924 01:15:41,280 --> 01:15:44,600 MAKE IT BETTER. 1925 01:15:44,600 --> 01:15:54,800 THANK YOU. 1926 01:16:34,080 --> 01:16:36,960 >> HELLO. 1927 01:16:36,960 --> 01:16:42,760 I'M QIAN ZHU I'M PART OF THE 1928 01:16:42,760 --> 01:16:49,400 CLINICAL INNOVATION TEAM. 1929 01:16:49,400 --> 01:16:52,160 YOU HAVE ALREADY HEARD ABOUT THE 1930 01:16:52,160 --> 01:16:54,120 CHALLENGE IN RARE DISEASE SPACE. 1931 01:16:54,120 --> 01:16:56,440 FOR INFORMATICS ASPECT WE 1932 01:16:56,440 --> 01:17:01,640 REVIEWED THE CHALLENGES AND 1933 01:17:01,640 --> 01:17:12,160 INFORMATION AND WE HAVE COME UP 1934 01:17:13,600 --> 01:17:17,520 WITH A NEW SYSTEM FOR PATIENTS 1935 01:17:17,520 --> 01:17:20,880 AND CLINICIANS AND SCIENTISTS TO 1936 01:17:20,880 --> 01:17:24,000 EMPOWER THE EFFORTS AND PROVIDE 1937 01:17:24,000 --> 01:17:24,440 EDUCATIONAL RESOURCE. 1938 01:17:24,440 --> 01:17:28,440 OUR PROJECT IS TO INTEGRATE THE 1939 01:17:28,440 --> 01:17:33,800 LATEST DATA IN A STRUCTURED, 1940 01:17:33,800 --> 01:17:34,200 STANDARDIZED WAY. 1941 01:17:34,200 --> 01:17:39,440 BY THE END OF THE DAY RARE 1942 01:17:39,440 --> 01:17:44,400 DISEASE WILL BE RARE DISEASE 1943 01:17:44,400 --> 01:17:47,280 WILL BE THE MAIN FEATURE 1944 01:17:47,280 --> 01:17:51,160 INCLUDING INTEGRATING DIVERSE 1945 01:17:51,160 --> 01:17:52,760 INFORMATION FROM DIFFERENT 1946 01:17:52,760 --> 01:17:53,000 RESOURCES. 1947 01:17:53,000 --> 01:17:55,120 THE CURRENT VERSION IS FOCUSSING 1948 01:17:55,120 --> 01:17:59,360 ON THE ARTICLES FROM PUB MED AND 1949 01:17:59,360 --> 01:18:02,240 THE CLINICAL TRIAL DATA AND THE 1950 01:18:02,240 --> 01:18:04,040 NIH-FUNDED GRANT DATA. 1951 01:18:04,040 --> 01:18:08,400 IN ORDER TO MAKE THE SYSTEM MORE 1952 01:18:08,400 --> 01:18:13,120 INCONNECTED WITH OTHER RESOURCES 1953 01:18:13,120 --> 01:18:15,680 AND USE AND STANDARDIZATION. 1954 01:18:15,680 --> 01:18:18,320 FOR EXAMPLE ALL THE DATA OR 1955 01:18:18,320 --> 01:18:21,440 CONCEPT IN OUR SYSTEM WILL 1956 01:18:21,440 --> 01:18:23,480 STANDARDIZE WITH THE WELL KNOWN 1957 01:18:23,480 --> 01:18:27,440 RARE DISEASE BEST CONTROL 1958 01:18:27,440 --> 01:18:33,440 VOCABULARY WITH GARD AND 1959 01:18:33,440 --> 01:18:39,480 ORPHANET AND WILL SEND OVER TO 1960 01:18:39,480 --> 01:18:42,480 THE SUBSCRIBERS AND HAVE A 1961 01:18:42,480 --> 01:18:44,120 USER-FRIENDLY INTERFACE AND API 1962 01:18:44,120 --> 01:18:46,080 TO ACCESS THE DATA. 1963 01:18:46,080 --> 01:18:49,680 TO IMPLEMENT THE MAIN FEATURES 1964 01:18:49,680 --> 01:18:51,120 I'LL QUICKLY GO THROUGH THE 1965 01:18:51,120 --> 01:18:52,840 ARCHITECTURE OF THE SYSTEMS. 1966 01:18:52,840 --> 01:18:55,080 FOR THE FIRST STEP WE CONNECT 1967 01:18:55,080 --> 01:18:56,360 THE DATA LIKE I MENTIONED BEFORE 1968 01:18:56,360 --> 01:19:00,760 TO CONNECT THE DATA FROM PUB MED 1969 01:19:00,760 --> 01:19:07,320 FROM NIH-GRANT FUNDING DATA AND 1970 01:19:07,320 --> 01:19:09,320 OPEN DATA AND IF YOU HAVE A 1971 01:19:09,320 --> 01:19:10,880 SUGGESTION WITH ANOTHER RESOURCE 1972 01:19:10,880 --> 01:19:12,400 WE CAN FURTHER INTEGRATE WE'RE 1973 01:19:12,400 --> 01:19:15,200 HAPPY TO HEAR THAT. 1974 01:19:15,200 --> 01:19:17,440 ONCE WE COLLECT THE DATA WE GO 1975 01:19:17,440 --> 01:19:19,120 THROUGH THE NEXT STEP TO 1976 01:19:19,120 --> 01:19:21,120 ANNOTATE THE DATA FROM THE 1977 01:19:21,120 --> 01:19:21,680 ORIGINAL RESOURCES. 1978 01:19:21,680 --> 01:19:24,800 AND TRANSLATE IT INTO A 1979 01:19:24,800 --> 01:19:29,560 MACHINE-READABLE FORMAT FOR 1980 01:19:29,560 --> 01:19:29,840 IMPROVEMENT. 1981 01:19:29,840 --> 01:19:34,200 WE DEVELOP MODELS BASED ON DEEP 1982 01:19:34,200 --> 01:19:36,440 LEARNING AND MACHINE LEARNING 1983 01:19:36,440 --> 01:19:38,600 AND ANALYZE THE DATA FROM THE 1984 01:19:38,600 --> 01:19:39,120 ORIGINAL RESOURCE. 1985 01:19:39,120 --> 01:19:44,600 ONCE THE DATA HAS BEEN PREPARED 1986 01:19:44,600 --> 01:19:49,040 WE USE CONTROLLED VOCABULARIES 1987 01:19:49,040 --> 01:19:51,480 TO REPRESENT THEM. 1988 01:19:51,480 --> 01:19:53,360 FOR THE DISEASE CONCEPT WE FOCUS 1989 01:19:53,360 --> 01:19:58,280 ON GARD, ORPHANET AND PHENOTYPE 1990 01:19:58,280 --> 01:20:00,600 ONTOLOGY AND FOR OTHER CONCEPTS 1991 01:20:00,600 --> 01:20:03,240 LIKE GENES WE SELECT DIFFERENT 1992 01:20:03,240 --> 01:20:05,040 VOCABULARIES TO HARMONIZE THEM. 1993 01:20:05,040 --> 01:20:08,000 ONCE THE DATA HAS BEEN PREPARED 1994 01:20:08,000 --> 01:20:10,800 AND GO THROUGH THE FIRST STEP. 1995 01:20:10,800 --> 01:20:14,360 WE DEFINE A DATA MODEL TO 1996 01:20:14,360 --> 01:20:17,960 CAPTURE ALL THE MEANINGS OF EACH 1997 01:20:17,960 --> 01:20:22,080 OF THOSE CONCEPTS TO CONNECT AND 1998 01:20:22,080 --> 01:20:24,000 THE RELATIONSHIP PRESENT BETWEEN 1999 01:20:24,000 --> 01:20:25,480 THE TWO CONCEPT. 2000 01:20:25,480 --> 01:20:27,480 BASED ON THE DATA MODEL WE 2001 01:20:27,480 --> 01:20:31,120 INTEGRATE ALL THE INFORMATION IN 2002 01:20:31,120 --> 01:20:34,880 A CENTRALIZED DATA REPOSITORY. 2003 01:20:34,880 --> 01:20:39,480 WE'RE USING A GRAPH PROVIDER 2004 01:20:39,480 --> 01:20:41,400 REPRESENTING THE INDIVIDUAL 2005 01:20:41,400 --> 01:20:45,440 CONCEPT AND THE RELATIONSHIP IS 2006 01:20:45,440 --> 01:20:48,480 REPRESENTED BETWEEN THE TWO TO 2007 01:20:48,480 --> 01:20:51,360 HELP US TO UNDERSTAND HOW THE 2008 01:20:51,360 --> 01:20:52,880 RELATIONSHIP BETWEEN THE 2009 01:20:52,880 --> 01:20:53,400 CONCEPTS. 2010 01:20:53,400 --> 01:20:56,440 WITH THE DATA FOUNDATION HAS 2011 01:20:56,440 --> 01:21:02,480 BEEN SET UP NOW WE DEVELOP THE 2012 01:21:02,480 --> 01:21:04,440 WORK FOR USERS TO SEARCH OR 2013 01:21:04,440 --> 01:21:08,600 BROWSE THE INFORMATION WE 2014 01:21:08,600 --> 01:21:11,200 CONNECT AND ONCE A NEW UPDATE 2015 01:21:11,200 --> 01:21:11,920 COMES UP WE'LL SEND IT TO THE 2016 01:21:11,920 --> 01:21:17,960 USER. 2017 01:21:17,960 --> 01:21:23,560 THIS IS OUR BETA VERSION OF THE 2018 01:21:23,560 --> 01:21:23,840 RDAS. 2019 01:21:23,840 --> 01:21:27,880 SO THE RIGHT-HAND SIDE IS GARD 2020 01:21:27,880 --> 01:21:29,680 DISEASE CLASSIFICATION TREE TO 2021 01:21:29,680 --> 01:21:35,880 ALLOW YOU TO NAVIGATE ALL THE 2022 01:21:35,880 --> 01:21:37,120 HIERARCHICAL STRUCTURES FOR THE 2023 01:21:37,120 --> 01:21:39,360 DISEASE OF INTEREST AND ONCE YOU 2024 01:21:39,360 --> 01:21:41,440 CAN USE THE SEARCH TO SEARCH 2025 01:21:41,440 --> 01:21:43,400 WHATEVER DISEASE YOU'RE 2026 01:21:43,400 --> 01:21:46,040 INTERESTED IN AND LIKE I SAY IF 2027 01:21:46,040 --> 01:21:49,640 YOU WANT TO RECEIVE THE ALERTS 2028 01:21:49,640 --> 01:21:50,880 YOU ARE REQUIRED TO SIGN UP TO 2029 01:21:50,880 --> 01:21:51,400 THE TOOL. 2030 01:21:51,400 --> 01:21:57,440 ONCE YOU SIGN IN YOU'LL BE ABLE 2031 01:21:57,440 --> 01:21:59,920 TO SUBSCRIBE FOR ANY ALERTS YOU 2032 01:21:59,920 --> 01:22:04,200 WANT TO RECEIVE FOR EACH 2033 01:22:04,200 --> 01:22:06,280 INDIVIDUAL INTEREST OF DISEASE 2034 01:22:06,280 --> 01:22:07,920 AND IT'S CLICKABLE. 2035 01:22:07,920 --> 01:22:12,440 ONCE YOU CLICK YOU WILL BE ABLE 2036 01:22:12,440 --> 01:22:16,240 TO NAVIGATE TO THE INDIVIDUAL 2037 01:22:16,240 --> 01:22:17,960 DISEASE PAGE. 2038 01:22:17,960 --> 01:22:21,240 THIS IS A PAGE YOU'LL BE ABLE TO 2039 01:22:21,240 --> 01:22:21,640 SEE. 2040 01:22:21,640 --> 01:22:32,000 WE HAVE A MAIN TAP. 2041 01:22:33,360 --> 01:22:35,880 A 2042 01:22:35,880 --> 01:22:40,480 AND YOU CAN CLICK ON THE TAB FOR 2043 01:22:40,480 --> 01:22:46,480 ARTICLES AND THIS IS BASED ON 2044 01:22:46,480 --> 01:22:52,600 DEEP LEARNING MODEL AND EACH 2045 01:22:52,600 --> 01:22:54,200 ARTICLE YOU'LL SEE THE 2046 01:22:54,200 --> 01:22:59,760 INFORMATION AND THE ANNOTATIONS. 2047 01:22:59,760 --> 01:23:00,640 YOU'LL SEE THE INFORMATION 2048 01:23:00,640 --> 01:23:03,240 YOU'RE LOOKING FOR AND FOR EACH 2049 01:23:03,240 --> 01:23:09,280 OF THOSE SUBPROJECTS YOU'LL SEE 2050 01:23:09,280 --> 01:23:10,160 THE ANNOTATIONS AND YOU DON'T 2051 01:23:10,160 --> 01:23:14,600 HAVE TO JUST LOOK THROUGH THE 2052 01:23:14,600 --> 01:23:15,720 ENTIRETY BUT GO THROUGH THIS TO 2053 01:23:15,720 --> 01:23:16,600 FIND THE INFORMATION YOU'RE 2054 01:23:16,600 --> 01:23:17,840 LOOKING FOR. 2055 01:23:17,840 --> 01:23:20,120 IF YOU GO THROUGH THE CLINICAL 2056 01:23:20,120 --> 01:23:24,400 TRIAL YOU CAN FIND SIMILAR 2057 01:23:24,400 --> 01:23:27,400 INFORMATION AND THEN BREAK DOWN 2058 01:23:27,400 --> 01:23:28,400 DIFFERENT TABS TO BROWSE ALL THE 2059 01:23:28,400 --> 01:23:34,400 INFORMATION. 2060 01:23:34,400 --> 01:23:35,880 ALSO IF YOU'RE INTERESTED STOP 2061 01:23:35,880 --> 01:23:42,280 BY POSTER 46 AND BESIDES THIS 2062 01:23:42,280 --> 01:23:44,840 INFORMATION YOU CAN FIND THE ULI 2063 01:23:44,840 --> 01:23:47,880 AND DO THE RESEARCH ANALYSIS. 2064 01:23:47,880 --> 01:23:50,200 THESE ARE TWO CASE STUDIES TO 2065 01:23:50,200 --> 01:23:53,120 SHOW HOW WE USE THE DATA WE 2066 01:23:53,120 --> 01:23:55,800 CONNECT TO SUPPORT LANDSCAPE 2067 01:23:55,800 --> 01:23:56,400 ANALYSIS. 2068 01:23:56,400 --> 01:23:59,920 ON THE RIGHT-HAND SIDE PLOT 2069 01:23:59,920 --> 01:24:02,040 SHOWS THE FUNDING GENERATED BY 2070 01:24:02,040 --> 01:24:07,400 THE FUNDING GRANT DATA WE 2071 01:24:07,400 --> 01:24:08,880 CONNECT FOR THE RARE DISEASES IN 2072 01:24:08,880 --> 01:24:13,920 THE PAST 20 YEARS. 2073 01:24:13,920 --> 01:24:17,680 FROM THE CHART AND OVER YEARS 2074 01:24:17,680 --> 01:24:19,800 THE FUNDING HAS INCREASED. 2075 01:24:19,800 --> 01:24:22,120 ALSO THE RIGHT-HAND SIDE IS 2076 01:24:22,120 --> 01:24:25,040 SHOWING HOW WE CAN USE THE TRIAL 2077 01:24:25,040 --> 01:24:32,440 DATA WE CONNECT TO CATEGORIZE 2078 01:24:32,440 --> 01:24:34,440 THE TRIAL BY INTERVENTION TYPE. 2079 01:24:34,440 --> 01:24:38,000 THE GREATEST NUMBER OF TRIALS 2080 01:24:38,000 --> 01:24:39,080 HAS BEEN DEDICATED TO DESIGN. 2081 01:24:39,080 --> 01:24:43,160 I THINK THIS IS ENCOURAGING. 2082 01:24:43,160 --> 01:24:45,120 WE CAN EXPECT SOME OF THIS 2083 01:24:45,120 --> 01:24:48,160 COMING UP IN THE NEAR FUTURE. 2084 01:24:48,160 --> 01:24:49,920 AND WHAT IS INTERESTING TO 2085 01:24:49,920 --> 01:24:52,440 DISCUSS OR HEAR MORE CASE 2086 01:24:52,440 --> 01:24:53,320 STUDIES WITH OUR DATA PLEASE 2087 01:24:53,320 --> 01:24:57,720 STOP BY OUR POSTER. 2088 01:24:57,720 --> 01:25:02,640 SO WE HAVE A SOFT RELEASE FOR 2089 01:25:02,640 --> 01:25:06,520 INTERNAL USE TO SEEK FEEDBACK 2090 01:25:06,520 --> 01:25:09,600 FROM NIH STAFF. 2091 01:25:09,600 --> 01:25:13,680 I WANT TO REITERATE THE GOAL IS 2092 01:25:13,680 --> 01:25:17,920 TO UPDATE ALL BIO MEDICAL DATA 2093 01:25:17,920 --> 01:25:18,720 AND PROVIDE EDUCATIONAL RESOURCE 2094 01:25:18,720 --> 01:25:20,120 AND ADVANCING RESEARCH IN RARE 2095 01:25:20,120 --> 01:25:22,320 DISEASE. 2096 01:25:22,320 --> 01:25:25,000 OUR TARGET USER IS VERY WIDE 2097 01:25:25,000 --> 01:25:25,280 RANGE. 2098 01:25:25,280 --> 01:25:29,520 WE HOPE THE PATIENT FAMILIES AND 2099 01:25:29,520 --> 01:25:32,440 CURATORS CAN USE THIS AS AN 2100 01:25:32,440 --> 01:25:34,520 EDUCATIONAL RESOURCE AND 2101 01:25:34,520 --> 01:25:36,040 CLINICIANS AND SCIENTISTS WILL 2102 01:25:36,040 --> 01:25:38,200 BE ABLE TO USE THE DATA TO 2103 01:25:38,200 --> 01:25:38,800 SUPPORT THEIR OWN RESEARCH. 2104 01:25:38,800 --> 01:25:44,680 LOOK OUT AND WE'LL HAVE A PUBLIC 2105 01:25:44,680 --> 01:25:47,840 RELEASE BY JULY 2023. 2106 01:25:47,840 --> 01:25:50,160 I HAVE A HUGE AMOUNT OF PEOPLE 2107 01:25:50,160 --> 01:25:52,320 AND WITHOUT THE DEDICATED EFFORT 2108 01:25:52,320 --> 01:25:58,040 I WON'T BE ABLE TO INTRODUCE 2109 01:25:58,040 --> 01:26:03,520 THIS AND WE HAVE HAD TRAINEES 2110 01:26:03,520 --> 01:26:09,120 THAT ADDED TO THE EFFORT AND 2111 01:26:09,120 --> 01:26:10,000 COLLEAGUES AND SUPPORT FROM 2112 01:26:10,000 --> 01:26:13,480 OTHERS AND THIS RESEARCH WAS 2113 01:26:13,480 --> 01:26:17,000 SUPPORTED BY INTRAMURAL AND 2114 01:26:17,000 --> 01:26:19,720 EXTRAMURAL PROGRAM AND DATA SETS 2115 01:26:19,720 --> 01:26:24,440 FROM OFFICE OF DATA SCIENCES 2116 01:26:24,440 --> 01:26:28,440 STRATEGIES TO FUND THE PROJECT 2117 01:26:28,440 --> 01:26:31,280 AND WE HAVE THIS NEW RARE 2118 01:26:31,280 --> 01:26:32,080 DISEASE INFORMATICS SCIENTIFIC 2119 01:26:32,080 --> 01:26:34,760 INTEREST GROUP SET UP SO IF 2120 01:26:34,760 --> 01:26:38,960 YOU'RE INTERESTED PLEASE JOIN UP 2121 01:26:38,960 --> 01:26:41,960 TO WORK TOGETHER ADVANCE THE 2122 01:26:41,960 --> 01:26:42,600 TRANSLATIONAL RESEARCH IN RARE 2123 01:26:42,600 --> 01:26:44,440 DISEASE. 2124 01:26:44,440 --> 01:26:54,640 THANK YOU. 2125 01:27:29,240 --> 01:27:36,440 >> THANK YOU FOR MAKING THE TRIP 2126 01:27:36,440 --> 01:27:37,680 TO D.C. FOR THE RARE DISEASE 2127 01:27:37,680 --> 01:27:40,880 DISEASE AND WOULD LIKE TO SHARE 2128 01:27:40,880 --> 01:27:42,440 THE PLATFORM VECTOR GENE THERAPY 2129 01:27:42,440 --> 01:27:43,320 PROGRAM WITH YOU ALL. 2130 01:27:43,320 --> 01:27:46,320 WE'RE ALL AWARE OF THE DIFFERENT 2131 01:27:46,320 --> 01:27:47,600 CHALLENGES IN THE FIELD OF GENE 2132 01:27:47,600 --> 01:27:49,560 THERAPY SUCH AS THE HIGH COST OF 2133 01:27:49,560 --> 01:27:51,120 MANUFACTURING AND THE LIMITED 2134 01:27:51,120 --> 01:27:51,600 ACCESS TO EXPERTISE AND 2135 01:27:51,600 --> 01:27:55,160 RESOURCES. 2136 01:27:55,160 --> 01:27:58,400 SO PAVE-GT IS AN EXPERIMENTAL 2137 01:27:58,400 --> 01:28:00,240 PROGRAM WHERE WE'RE TRYING TO 2138 01:28:00,240 --> 01:28:03,440 TEST THE HYPOTHESIS WHETHER 2139 01:28:03,440 --> 01:28:05,880 USING A PLATFORM VECTOR APPROACH 2140 01:28:05,880 --> 01:28:09,440 CAN INCREASE THE EFFICIENCY IN 2141 01:28:09,440 --> 01:28:11,480 PRE-CLINICAL TESTING AS WELL AS 2142 01:28:11,480 --> 01:28:12,160 CLINICAL TRIAL START-UP. 2143 01:28:12,160 --> 01:28:14,720 WE HAVE SELECTED FOUR RARE 2144 01:28:14,720 --> 01:28:15,920 DISEASES FOR WHICH WE HAVE 2145 01:28:15,920 --> 01:28:21,480 DEVELOPED GENE THERAPIES USING A 2146 01:28:21,480 --> 01:28:26,400 PLATFORM AAV VECTOR. 2147 01:28:26,400 --> 01:28:28,800 WE'LL DEVELOP THROUGHOUT THE 2148 01:28:28,800 --> 01:28:29,880 PRECLINICAL DEVELOPMENT STEPS 2149 01:28:29,880 --> 01:28:32,160 AND LOOK AT PROCESSES AND 2150 01:28:32,160 --> 01:28:34,840 ANALYTICAL METHODS AND STUDY 2151 01:28:34,840 --> 01:28:37,480 DESIGNS AS WELL AS ADOPTING THE 2152 01:28:37,480 --> 01:28:38,240 SAME REGULATORY PATHWAY. 2153 01:28:38,240 --> 01:28:40,480 ONCE WE GET TO THE TRIALS WE'D 2154 01:28:40,480 --> 01:28:43,280 LIKE TO USE COMMON CRITICAL 2155 01:28:43,280 --> 01:28:44,480 PROTOCOL ELEMENTS WHEREVER 2156 01:28:44,480 --> 01:28:46,920 POSSIBLE AND THE OVER ALL AIM IS 2157 01:28:46,920 --> 01:28:50,160 TO IDENTIFY REDUNDANCIES IN THE 2158 01:28:50,160 --> 01:28:51,200 DIFFERENT DEVELOPMENT STEPS AND 2159 01:28:51,200 --> 01:28:53,080 ALSO LOOK INTO THE ABILITY WHERE 2160 01:28:53,080 --> 01:28:55,160 WE MIGHT BE ABLE TO LEVERAGE 2161 01:28:55,160 --> 01:28:56,520 DATA AS WE MOVE FROM ONE PRODUCT 2162 01:28:56,520 --> 01:28:58,760 ON TO THE NEXT. 2163 01:28:58,760 --> 01:29:01,000 AND AS WE ARE DOING ALL OF THIS 2164 01:29:01,000 --> 01:29:02,400 WE WOULD LIKE TO MAKE OUR DATA 2165 01:29:02,400 --> 01:29:08,920 PUBLICLY AVAILABLE. 2166 01:29:08,920 --> 01:29:12,280 PAVE-GT IS A HUGE TEAM EFFORT 2167 01:29:12,280 --> 01:29:12,880 AND PARTNERSHIP BETWEEN 2168 01:29:12,880 --> 01:29:14,960 DIFFERENT NIH INSTITUTES. 2169 01:29:14,960 --> 01:29:19,120 THE NCATS TEAM IS LED BY 2170 01:29:19,120 --> 01:29:21,520 DR. ELIZABETH OTTINGER DOING THE 2171 01:29:21,520 --> 01:29:25,600 PRE CLINICAL DEVELOPMENT WORK 2172 01:29:25,600 --> 01:29:31,240 AND DR. BROOKS AT THE DRDRI AND 2173 01:29:31,240 --> 01:29:32,800 NINDS IS BEING ALSO INVOLVED. 2174 01:29:32,800 --> 01:29:35,160 I'D LIKE TO ACKNOWLEDGE THE 2175 01:29:35,160 --> 01:29:36,440 SIGNIFICANT CONTRIBUTION EACH 2176 01:29:36,440 --> 01:29:38,000 AND EVERY MEMBER OF THIS TEAM IS 2177 01:29:38,000 --> 01:29:41,840 MAKING TOWARDS THE EFFORT. 2178 01:29:41,840 --> 01:29:46,000 SO WE HAVE FOUR RARE DISEASES TO 2179 01:29:46,000 --> 01:29:50,000 ORGANIC ACIDEMIAS AND THEY'RE IN 2180 01:29:50,000 --> 01:29:50,680 DIFFERENT STAGES OF THE 2181 01:29:50,680 --> 01:29:56,120 DEVELOPMENT PATHWAY. 2182 01:29:56,120 --> 01:29:58,720 SOME ARE IN THE EARLIER PHASE 2183 01:29:58,720 --> 01:30:00,520 AND ONE GROUP IS DOING THE PROOF 2184 01:30:00,520 --> 01:30:02,560 OF CONCEPT AND LEAD CANDIDATE 2185 01:30:02,560 --> 01:30:08,800 OPTIMIZATION STUDIES. 2186 01:30:08,800 --> 01:30:12,840 AND WORK INITIATED IN THE GROUP 2187 01:30:12,840 --> 01:30:16,200 AT NHERI LEAD OPTIMIZATION 2188 01:30:16,200 --> 01:30:19,520 STUDIES AND CURRENTLY THE NCATS 2189 01:30:19,520 --> 01:30:20,640 THERAPEUTIC DEVELOPMENT BRANCH 2190 01:30:20,640 --> 01:30:23,160 IS DOING THE DEVELOPMENT WORK 2191 01:30:23,160 --> 01:30:23,680 FOR THESE. 2192 01:30:23,680 --> 01:30:25,440 AND THIS IS THE FURTHEST ALONG 2193 01:30:25,440 --> 01:30:27,320 OF ALL THE FOUR CANDIDATES AND 2194 01:30:27,320 --> 01:30:29,520 IT IS GOING TO BE THE MAIN FOCUS 2195 01:30:29,520 --> 01:30:32,240 FOR THE UPDATES TODAY. 2196 01:30:32,240 --> 01:30:36,200 WHAT YOU CAN SEE HERE IS A 2197 01:30:36,200 --> 01:30:37,360 REGULATORY SNAPSHOT OF THE 2198 01:30:37,360 --> 01:30:39,080 REGULATORY PATHWAY WE HAVE 2199 01:30:39,080 --> 01:30:42,520 ADOPTED FOR THE FIRST PRODUCT OF 2200 01:30:42,520 --> 01:30:46,560 THE PAVE-GT PROGRAMS FOR 2201 01:30:46,560 --> 01:30:51,720 AAV9HPCCA A GENE THERAPY 2202 01:30:51,720 --> 01:30:56,040 TREATMENT FOR THE INDICATION 2203 01:30:56,040 --> 01:30:59,920 PROPIONIC ACIDEMIA RESULTING 2204 01:30:59,920 --> 01:31:03,720 FROM A DEFICIENCY OF PCCA. 2205 01:31:03,720 --> 01:31:07,840 WE HAD AN EARLY ENGAGEMENT WITH 2206 01:31:07,840 --> 01:31:15,560 THE FDA AND UTILIZING THE 2207 01:31:15,560 --> 01:31:22,000 FEEDBACK WE'RE ANTICIPATING A 2208 01:31:22,000 --> 01:31:23,880 MEETING THIS SUMMER AND WILL 2209 01:31:23,880 --> 01:31:25,720 SUBMIT TO FDA FOR REVIEW AND 2210 01:31:25,720 --> 01:31:27,880 AFTER THAT THE FIRST IN HUMAN 2211 01:31:27,880 --> 01:31:29,720 CLINICAL TRIALS WILL BE 2212 01:31:29,720 --> 01:31:32,440 INITIATED AT THE NIH CLINICAL 2213 01:31:32,440 --> 01:31:35,200 CENTER. 2214 01:31:35,200 --> 01:31:37,880 WE'VE ALSO TAKE ADVANTAGE OF THE 2215 01:31:37,880 --> 01:31:39,120 INCENTIVE PROGRAMS FOR ORPHAN 2216 01:31:39,120 --> 01:31:40,560 DRUG DEVELOPMENT AND THE PRODUCT 2217 01:31:40,560 --> 01:31:43,600 HAS BEEN DESIGNATED AN ORPHAN 2218 01:31:43,600 --> 01:31:45,560 DRUG DESIGNATION AS WELL AS 2219 01:31:45,560 --> 01:31:49,720 QUALIFIES AS A DRUG FOR RARE 2220 01:31:49,720 --> 01:31:50,640 PEDIATRIC DISEASE. 2221 01:31:50,640 --> 01:31:54,760 DIVING DEEPER INTO THE INTERACT 2222 01:31:54,760 --> 01:31:56,360 MEETING, NON-BINDING BUT THE 2223 01:31:56,360 --> 01:31:59,080 MEETING ARE A GREAT WAY TO 2224 01:31:59,080 --> 01:32:01,240 ENGAGE WITH THE FDA EARLIER ON 2225 01:32:01,240 --> 01:32:03,520 IN THE DEVELOPMENT OF ANY 2226 01:32:03,520 --> 01:32:13,960 PROGRAM AND GET FEEDBACK. 2227 01:32:16,040 --> 01:32:18,160 THEY AGREED WITH A PROOF OF 2228 01:32:18,160 --> 01:32:19,600 CONCEPT DATA IN ANIMAL MODELS 2229 01:32:19,600 --> 01:32:21,560 AND PROVIDED FEEDBACK AND 2230 01:32:21,560 --> 01:32:24,040 GUIDANCE HOW TO GO ABOUT THE 2231 01:32:24,040 --> 01:32:26,560 IMMUNOGENICITY STUDIES NEEDED 2232 01:32:26,560 --> 01:32:31,280 FOR THE PROGRAMS. 2233 01:32:31,280 --> 01:32:33,360 IMPORTANT OF ALL FDA SHARED WE 2234 01:32:33,360 --> 01:32:36,000 MAY BE ABLE TO USE THE CAPSID 2235 01:32:36,000 --> 01:32:37,200 BIO DESCRIBE USING DATA MOVING 2236 01:32:37,200 --> 01:32:39,240 FROM ONE PRODUCT ON TO THE NEXT. 2237 01:32:39,240 --> 01:32:41,440 SO THIS IS A GREAT LESSON 2238 01:32:41,440 --> 01:32:43,200 LEARNED FOR OUR TEAM AS WE FEEL 2239 01:32:43,200 --> 01:32:48,120 THIS MAY BE AN AREA WE CAN 2240 01:32:48,120 --> 01:32:49,560 PROBABLY CREATE EFFICIENCIES 2241 01:32:49,560 --> 01:32:51,760 USING THE PLATFORM VECTOR 2242 01:32:51,760 --> 01:32:52,160 APPROACH. 2243 01:32:52,160 --> 01:32:54,200 SO WE'LL BE SHARING THIS 2244 01:32:54,200 --> 01:32:56,200 INFORMATION AFTER FDA REVIEWS 2245 01:32:56,200 --> 01:33:00,120 OUR PACKAGE AND WE REACH THAT 2246 01:33:00,120 --> 01:33:00,720 STAGE. 2247 01:33:00,720 --> 01:33:03,040 WE WERE IN THE EARLIER STAGE OF 2248 01:33:03,040 --> 01:33:04,400 CMC MANUFACTURING. 2249 01:33:04,400 --> 01:33:06,080 WE DID NOT ADD MUCH INFORMATION 2250 01:33:06,080 --> 01:33:08,440 TO OUR PACKAGE FOR THE FDA TO 2251 01:33:08,440 --> 01:33:09,080 REVIEW. 2252 01:33:09,080 --> 01:33:13,120 STILL THE AGENCY WAS REALLY 2253 01:33:13,120 --> 01:33:15,400 HELPFUL AND THEY SHARED RELEVANT 2254 01:33:15,400 --> 01:33:16,960 GUIDANCES THAT COULD HELP US 2255 01:33:16,960 --> 01:33:19,880 WITH THE PROCESS DEVELOPMENT, 2256 01:33:19,880 --> 01:33:21,160 GMP MANUFACTURING, QUALITY 2257 01:33:21,160 --> 01:33:24,400 ATTRIBUTES NEEDED AND THE TYPES 2258 01:33:24,400 --> 01:33:25,720 OF POTENCY ASSAY. 2259 01:33:25,720 --> 01:33:31,160 WE BELIEVE TO GET VALUABLE 2260 01:33:31,160 --> 01:33:36,040 FEEDBACK ON FDA IT'S IMPORTANT 2261 01:33:36,040 --> 01:33:37,320 TO HAVE COMPLETE PACKAGE 2262 01:33:37,320 --> 01:33:40,880 AVAILABLE AT THAT STAGE OF 2263 01:33:40,880 --> 01:33:42,080 DEVELOPMENT. 2264 01:33:42,080 --> 01:33:43,280 AND FDA REVIEWED CLINICAL TRIAL 2265 01:33:43,280 --> 01:33:45,560 DESIGN AND GAVE US FEEDBACK AND 2266 01:33:45,560 --> 01:33:50,160 ALSO SUGGESTED BEST WAYS HOW TO 2267 01:33:50,160 --> 01:33:52,440 SELECT PATIENT FOR TRIALS FOR 2268 01:33:52,440 --> 01:33:55,960 RARE DISEASES WHICH INVOLVE THE 2269 01:33:55,960 --> 01:33:56,560 PEDIATRIC POPULATION. 2270 01:33:56,560 --> 01:33:58,320 IN A NUTSHELL THIS WAS A 2271 01:33:58,320 --> 01:34:00,400 VALUABLE EXPERIENCE FOR OUR TEAM 2272 01:34:00,400 --> 01:34:03,800 AND WE RECOMMEND EVERYONE TO 2273 01:34:03,800 --> 01:34:05,320 HAVE AN INTERACT MEETING AND 2274 01:34:05,320 --> 01:34:08,160 ENGAGE WITH THE FDA EARLY ON. 2275 01:34:08,160 --> 01:34:10,360 GETTING A LITTLE BIT INTO THE 2276 01:34:10,360 --> 01:34:13,440 INCENTIVE PROGRAMS, WAY BACK IN 2277 01:34:13,440 --> 01:34:15,240 1983, CONGRESS PASSED THE ORPHAN 2278 01:34:15,240 --> 01:34:18,600 DRUG ACT AS YOU'VE BEEN IN THE 2279 01:34:18,600 --> 01:34:20,480 VARIOUS TALKS AND EVER SINCE 2280 01:34:20,480 --> 01:34:24,320 THEN FDA HAS APPROVED OVER 1100 2281 01:34:24,320 --> 01:34:26,320 TREATMENT FOR RARE DISEASES. 2282 01:34:26,320 --> 01:34:30,840 THERE'S INCENTIVE PROGRAMS SUCH 2283 01:34:30,840 --> 01:34:33,960 AS THE ORPHAN DRUG DESIGNATION 2284 01:34:33,960 --> 01:34:36,400 AND THE TWO WE HAD TAKEN 2285 01:34:36,400 --> 01:34:39,040 ADVANTAGE OF AND THESE 2286 01:34:39,040 --> 01:34:39,680 DESIGNATIONS PROVIDE SUBSTANTIAL 2287 01:34:39,680 --> 01:34:41,200 FINANCIAL INCENTIVES. 2288 01:34:41,200 --> 01:34:44,040 I'M HAPPY WE HAVE THESE 2289 01:34:44,040 --> 01:34:45,640 DESIGNATIONS BUT WHAT WE ARE 2290 01:34:45,640 --> 01:34:47,680 REALLY HAPPY ON THE 40th 2291 01:34:47,680 --> 01:34:52,720 ANNIVERSARY OF THE ORPHAN DRUG 2292 01:34:52,720 --> 01:34:57,000 ACT THE PAVE-GT IS RELIEVING THE 2293 01:34:57,000 --> 01:34:58,920 REGULATORY DOCUMENTATION FOR 2294 01:34:58,920 --> 01:34:59,720 RARE PEDIATRIC DISEASE 2295 01:34:59,720 --> 01:35:00,240 DESIGNATION. 2296 01:35:00,240 --> 01:35:06,320 WE ALSO DRAFTED A WHITE PAPER 2297 01:35:06,320 --> 01:35:11,960 WHICH IS LOOKED AT A STEP WISE 2298 01:35:11,960 --> 01:35:13,840 MANNER HOW TO USE THE RESOURCES 2299 01:35:13,840 --> 01:35:16,640 AND GUIDANCES OUT THERE TO GO 2300 01:35:16,640 --> 01:35:20,440 AND COMPILE OUR APPLICATION SO 2301 01:35:20,440 --> 01:35:26,280 AT THIS POINT IN TIME THE 2302 01:35:26,280 --> 01:35:27,560 TEMPLATES HAVE BEEN RELEASED ON 2303 01:35:27,560 --> 01:35:29,920 THE WEBSITE AND IT'S IN PRESS 2304 01:35:29,920 --> 01:35:35,360 AND DUE IN THE COMING DAYS. 2305 01:35:35,360 --> 01:35:37,880 AS WE MOVE AHEAD WITH THE 2306 01:35:37,880 --> 01:35:40,200 PLATFORM WE'D LIKE TO 2307 01:35:40,200 --> 01:35:41,160 DISSEMINATE THE INFORMATION AND 2308 01:35:41,160 --> 01:35:43,480 DATA FROM THE LEARNINGS OF THIS. 2309 01:35:43,480 --> 01:35:49,160 THE OVER ALL AIM IS WE SHARE THE 2310 01:35:49,160 --> 01:35:51,040 LESSONS LEARNED AND ANY 2311 01:35:51,040 --> 01:35:53,160 EFFICIENCIES GAINED THROUGH THE 2312 01:35:53,160 --> 01:35:55,520 PRE-CLINICAL AND REGULATORY AND 2313 01:35:55,520 --> 01:35:56,080 CLINICAL SPACE. 2314 01:35:56,080 --> 01:35:58,800 WE'D LIKE TO PAVE THE WAY FOR 2315 01:35:58,800 --> 01:36:01,400 MORE GENE THERAPY DEVELOPMENTS 2316 01:36:01,400 --> 01:36:04,200 AND I'D URGE EVERYONE TO 2317 01:36:04,200 --> 01:36:08,520 SUBSCRIBE TO THE WEBSITE FOR 2318 01:36:08,520 --> 01:36:10,280 UPDATES AND VISIT AND TALK MORE 2319 01:36:10,280 --> 01:36:13,200 IN DETAIL ABOUT THE REGULATORY 2320 01:36:13,200 --> 01:36:15,600 PATHWAY AND THE PAVE-GT 2321 01:36:15,600 --> 01:36:15,840 PLATFORM. 2322 01:36:15,840 --> 01:36:26,200 THANK YOU, EVERYONE. 2323 01:37:16,800 --> 01:37:18,600 >> CAN YOU ADDRESS THE FIRST 2324 01:37:18,600 --> 01:37:19,000 QUESTION. 2325 01:37:19,000 --> 01:37:21,160 >> NOT YET BUT WE WOULD LIKE TO. 2326 01:37:21,160 --> 01:37:24,240 TO GO INTO MORE DEPTH ON THAT 2327 01:37:24,240 --> 01:37:24,400 ONE. 2328 01:37:24,400 --> 01:37:28,040 SO ALPHA FOLD IS A PROTEIN 2329 01:37:28,040 --> 01:37:29,560 STRUCTURE MODELLING ALGORITHM 2330 01:37:29,560 --> 01:37:30,440 RECENTLY RELEASED AND THEY'VE 2331 01:37:30,440 --> 01:37:32,240 DONE A REALLY GOOD JOB AT 2332 01:37:32,240 --> 01:37:33,560 PREDICTING SOME OF THE PROTEINS 2333 01:37:33,560 --> 01:37:39,160 SEQUENCES NOT WITH ALL OF THEM 2334 01:37:39,160 --> 01:37:49,400 YET BUT MANY. 2335 01:37:49,840 --> 01:37:52,320 AND WE MAY CHANGE THE STRUCTURE 2336 01:37:52,320 --> 01:37:53,920 AND THE ALGORITHM IT SOLVE 2337 01:37:53,920 --> 01:37:56,400 DOESN'T CAPTURE ALL THE DETAILS 2338 01:37:56,400 --> 01:37:58,400 YET. 2339 01:37:58,400 --> 01:38:01,560 AND WE ARE LOOKING AT THE NEWER 2340 01:38:01,560 --> 01:38:03,560 ALGORITHMS COMING OUT TRYING TO 2341 01:38:03,560 --> 01:38:05,240 DO EXACTLY THAT SO THERE ARE 2342 01:38:05,240 --> 01:38:06,880 VARIANT MODELLING ALGORITHMS 2343 01:38:06,880 --> 01:38:08,080 THAT MULTIPLE GROUPS ARE LOOKING 2344 01:38:08,080 --> 01:38:09,920 AT AND WE'RE ACTIVELY LOOKING AT 2345 01:38:09,920 --> 01:38:11,280 THEIR RESEARCH AND THEIR RESULTS 2346 01:38:11,280 --> 01:38:13,360 TO BE ABLE TO INTEGRATE. 2347 01:38:13,360 --> 01:38:14,320 NOT YET BUT HOPEFULLY IN THE 2348 01:38:14,320 --> 01:38:15,640 NEAR FUTURE. 2349 01:38:15,640 --> 01:38:16,600 >> GREAT, THANK YOU. 2350 01:38:16,600 --> 01:38:20,400 WE'LL TRY TO GO THROUGH AS MANY 2351 01:38:20,400 --> 01:38:20,680 QUESTIONS. 2352 01:38:20,680 --> 01:38:29,320 FIRST ONE DOWN HERE. 2353 01:38:29,320 --> 01:38:32,000 >> I HAVE A COMMENT AND A 2354 01:38:32,000 --> 01:38:33,240 QUESTION. 2355 01:38:33,240 --> 01:38:35,640 MY COMMENT IS THAT I'M AMAZED 2356 01:38:35,640 --> 01:38:39,760 WHEN YOU TALKED ABOUT THE 2357 01:38:39,760 --> 01:38:43,480 DIAGNOSTIC JOURNEY AND PATIENTS 2358 01:38:43,480 --> 01:38:44,480 LIVING WITH RARE DISEASE. 2359 01:38:44,480 --> 01:38:47,560 THEIR STORY SOUNDS LIKE UNDER 2360 01:38:47,560 --> 01:38:48,000 REPRESENTED GROUPS. 2361 01:38:48,000 --> 01:38:51,200 SOMETHING I'D ASK OF THIS GROUP 2362 01:38:51,200 --> 01:38:52,680 IS THAT THESE RESOURCES ARE 2363 01:38:52,680 --> 01:38:53,760 PHENOMENAL AS YOU'RE DEVELOPING 2364 01:38:53,760 --> 01:38:53,960 THEM. 2365 01:38:53,960 --> 01:38:57,880 I'D LIKE TO ASK YOU TO SPEND 2366 01:38:57,880 --> 01:38:59,280 JUST AS MUCH AS ENERGY ON THE 2367 01:38:59,280 --> 01:39:00,200 COMMUNICATION PLAN AS DEVELOPING 2368 01:39:00,200 --> 01:39:02,160 IT BECAUSE THE PEOPLE WHO NEED 2369 01:39:02,160 --> 01:39:04,440 TO KNOW ABOUT IT AND CONTRIBUTE 2370 01:39:04,440 --> 01:39:07,120 TO IT AND ENSURE IT'S 2371 01:39:07,120 --> 01:39:09,440 REPRESENTATIVE IT WON'T WORK 2372 01:39:09,440 --> 01:39:10,040 WITHOUT HAVING THAT 2373 01:39:10,040 --> 01:39:11,600 REPRESENTATION BUT IF THEY DON'T 2374 01:39:11,600 --> 01:39:14,240 KNOW ABOUT IT THEY CAN'T GET TO 2375 01:39:14,240 --> 01:39:14,920 IT. 2376 01:39:14,920 --> 01:39:16,080 THAT'S MY COMMENT. 2377 01:39:16,080 --> 01:39:17,920 MY QUESTION RELATE TO APPLYING 2378 01:39:17,920 --> 01:39:18,960 THIS IN A CLINICAL TRIAL. 2379 01:39:18,960 --> 01:39:21,240 IT'S NOT SPECIFICALLY TO YOU BUT 2380 01:39:21,240 --> 01:39:22,520 KIND OF IN GENERAL. 2381 01:39:22,520 --> 01:39:26,120 ONE OF MY ISSUES WHICH ERIC ALSO 2382 01:39:26,120 --> 01:39:29,320 RAISED IS THAT RARE DISEASES I'M 2383 01:39:29,320 --> 01:39:32,440 RESPONSIBLE FOR ARE VERY 2384 01:39:32,440 --> 01:39:34,640 HETEROGENOUS AND IT'S LIKELY THE 2385 01:39:34,640 --> 01:39:37,080 CLINICAL MANIFESTATION OF A 2386 01:39:37,080 --> 01:39:39,400 PATIENT MAY LOOK LIKE OTHER 2387 01:39:39,400 --> 01:39:42,080 DISEASES THAN OTHER PEOPLE WHO 2388 01:39:42,080 --> 01:39:43,600 HAVE THAT CONDITION BUT CLINICAL 2389 01:39:43,600 --> 01:39:44,280 TRIALS HAVE SMALL PATIENT 2390 01:39:44,280 --> 01:39:47,480 POPULATIONS AND THE BIGGEST 2391 01:39:47,480 --> 01:39:49,320 CONCERNING IS HAVING 10 PEOPLE 2392 01:39:49,320 --> 01:39:50,480 AND SAYING THESE ARE 2393 01:39:50,480 --> 01:39:51,600 REPRESENTATIVE OF EVERYBODY WITH 2394 01:39:51,600 --> 01:39:52,640 THIS CONDITION. 2395 01:39:52,640 --> 01:39:54,800 HOW DO YOU GUYS AVOID THAT OR 2396 01:39:54,800 --> 01:39:57,520 ENGAGE WITH INVESTIGATORS AND 2397 01:39:57,520 --> 01:40:00,240 SAY BE CAREFUL ABOUT SAYING THIS 2398 01:40:00,240 --> 01:40:03,360 SAY GENERALIZABLE RESPONSE WHEN 2399 01:40:03,360 --> 01:40:05,760 THERE'S SO MUCH HETEROGENEITY 2400 01:40:05,760 --> 01:40:06,320 AMONG RARE DISEASE. 2401 01:40:06,320 --> 01:40:09,200 >> I'LL RESPOND TO THE COMMENT 2402 01:40:09,200 --> 01:40:13,000 AND SEE IF ANYONE WANTS TO ADD. 2403 01:40:13,000 --> 01:40:18,280 I'M A MEMBER OF THE NIH UNITE 2404 01:40:18,280 --> 01:40:23,160 INITIATIVE DR. TABAK MENTIONED 2405 01:40:23,160 --> 01:40:25,440 THINKING ABOUT DIVERSITY, 2406 01:40:25,440 --> 01:40:25,880 EQUITY, INCLUSION AND 2407 01:40:25,880 --> 01:40:26,560 ACCESSIBILITY AND WITHIN OUR 2408 01:40:26,560 --> 01:40:27,240 BIOMARKER STRUCTURE. 2409 01:40:27,240 --> 01:40:28,520 SPECIFICALLY FOR RARE DISEASES I 2410 01:40:28,520 --> 01:40:29,840 THINK THE SAME ISSUE. 2411 01:40:29,840 --> 01:40:32,320 IT'S SMALL POPULATIONS IS THE 2412 01:40:32,320 --> 01:40:32,600 DIFFICULTY. 2413 01:40:32,600 --> 01:40:33,920 AND SMALL POPULATIONS YOU CAN 2414 01:40:33,920 --> 01:40:35,840 THINK OF IT FROM A RARE DISEASE 2415 01:40:35,840 --> 01:40:37,720 STANCE AND SAME WHEN YOU THINK 2416 01:40:37,720 --> 01:40:41,240 OF ETHNIC AND RACIAL GROUPS AND 2417 01:40:41,240 --> 01:40:42,560 AGE GROUPS AND OTHER WAYS TO 2418 01:40:42,560 --> 01:40:43,720 THINK OF UNDER SERVED 2419 01:40:43,720 --> 01:40:44,000 POPULATIONS. 2420 01:40:44,000 --> 01:40:45,960 THERE'S OVERLAP. 2421 01:40:45,960 --> 01:40:47,640 IT REQUIRES INTENTIONAL THINKING 2422 01:40:47,640 --> 01:40:49,400 ABOUT OUR APPROACH AND WE'RE 2423 01:40:49,400 --> 01:40:51,280 TRYING TO START WITH ASKING 2424 01:40:51,280 --> 01:40:51,560 QUESTIONS. 2425 01:40:51,560 --> 01:40:52,640 WHAT DATA'S AVAILABLE? 2426 01:40:52,640 --> 01:40:54,000 WHAT DO WE KNOW? 2427 01:40:54,000 --> 01:40:55,160 UNTIL WE CAN START TO COLLECT 2428 01:40:55,160 --> 01:40:57,720 THIS ALL AND SEE WHERE THE GAPS 2429 01:40:57,720 --> 01:41:01,520 ARE, WE'RE NOT GOING TO ADDRESS 2430 01:41:01,520 --> 01:41:06,120 THE TYPES OF QUESTIONS YOU AND I 2431 01:41:06,120 --> 01:41:07,840 HAVE ABOUT THESE POPULATIONS. 2432 01:41:07,840 --> 01:41:13,120 WITHIN CLINICAL TRIALS I THINK 2433 01:41:13,120 --> 01:41:23,160 IT GOES AND OUR DIVISION OF 2434 01:41:23,160 --> 01:41:24,960 CLINICAL INNOVATION HAS THE 2435 01:41:24,960 --> 01:41:27,440 TRIAL INNOVATION NETWORK WHICH 2436 01:41:27,440 --> 01:41:28,760 LOOKS AT ISSUES LIKE THIS 2437 01:41:28,760 --> 01:41:30,600 ENSURING AS YOU THINK OF 2438 01:41:30,600 --> 01:41:31,840 RECRUITMENT, HOW'S IT AFFECT 2439 01:41:31,840 --> 01:41:35,520 ISSUES WHEN YOU THINK OF SMALL 2440 01:41:35,520 --> 01:41:38,320 POPULATIONS AND ESPECIALLY UNDER 2441 01:41:38,320 --> 01:41:41,480 SERVED POPULATIONS. 2442 01:41:41,480 --> 01:41:43,040 AND WITHIN THE RARE DISEASE 2443 01:41:43,040 --> 01:41:44,320 CLINICAL RESEARCH NETWORK 2444 01:41:44,320 --> 01:41:50,400 THERE'S A GROUP FOCUSSED ON DEI 2445 01:41:50,400 --> 01:41:51,360 DEIA ISSUES. 2446 01:41:51,360 --> 01:41:54,040 >> IN THE PRECLINICAL SPACE WE 2447 01:41:54,040 --> 01:41:59,360 HAVE AN EFFORT INITIATED BY OUR 2448 01:41:59,360 --> 01:42:03,520 THERAPEUTIC DEVELOPMENT BRANCH 2449 01:42:03,520 --> 01:42:05,800 TO LOOK AT A LANDSCAPE ANALYSIS 2450 01:42:05,800 --> 01:42:08,000 AND UNDERSTAND THE UNDER 2451 01:42:08,000 --> 01:42:09,480 REPRESENTED POPULATIONS AND 2452 01:42:09,480 --> 01:42:12,440 TRYING TO DO DRUG DEVELOPMENT SO 2453 01:42:12,440 --> 01:42:17,360 WE'RE INTERESTED IN THAT. 2454 01:42:17,360 --> 01:42:19,200 CHECK OUT THE SESSION ON DEI AND 2455 01:42:19,200 --> 01:42:23,120 GENE TARGETED THERAPIES. 2456 01:42:23,120 --> 01:42:24,440 >> I HOPE THIS IS APPROPRIATE, 2457 01:42:24,440 --> 01:42:27,200 IF NOT LET ME KNOW. 2458 01:42:27,200 --> 01:42:29,400 IN REGARDS TO CURES UNTIL WE 2459 01:42:29,400 --> 01:42:35,720 HAVE ONE I WANT TO TALK ABOUT 2460 01:42:35,720 --> 01:42:36,080 SYMPTOMOLOGY. 2461 01:42:36,080 --> 01:42:37,400 MANY RARE DISEASES ARE 2462 01:42:37,400 --> 01:42:39,080 ACCOMPANIED BY PAIN. 2463 01:42:39,080 --> 01:42:40,640 IN 2016 THE CDC GUIDELINES AND 2464 01:42:40,640 --> 01:42:44,160 THE POPULATION THAT I WORK WITH 2465 01:42:44,160 --> 01:42:51,640 THAT ARE IMPACTING MY KIDS, 2466 01:42:51,640 --> 01:42:54,800 PANCREATITIS AND WE HAVE A HUGE 2467 01:42:54,800 --> 01:42:56,840 ISSUE WITH OUR PEDIATRIC 2468 01:42:56,840 --> 01:43:00,440 PATIENTS NOT BEING ABLE TO 2469 01:43:00,440 --> 01:43:03,120 ACCESS ADEQUATE PAIN MANAGEMENT. 2470 01:43:03,120 --> 01:43:05,760 I'M VERY CONCERNED ABOUT THAT. 2471 01:43:05,760 --> 01:43:12,440 IT'S NOT JUST OUR POPULATION, 2472 01:43:12,440 --> 01:43:15,640 SICKLE CELL A NUMBER OF 2473 01:43:15,640 --> 01:43:16,720 POPULATIONS AND A LOT OF RARE 2474 01:43:16,720 --> 01:43:18,480 DISEASES HAVE STIGMA TO IT AND 2475 01:43:18,480 --> 01:43:20,400 OPIOIDS HAVE STIGMA AND WE SEE 2476 01:43:20,400 --> 01:43:21,760 TRAUMA WITH OUR KIDS 2477 01:43:21,760 --> 01:43:23,720 TRANSITIONING FROM 18 TO 20, 21 2478 01:43:23,720 --> 01:43:26,240 IN REGARDS TO THE STIGMA, RARE 2479 01:43:26,240 --> 01:43:27,600 DISEASE AND IS THERE ANYTHING 2480 01:43:27,600 --> 01:43:29,880 BEING DONE IN REGARDS TO THAT 2481 01:43:29,880 --> 01:43:31,640 SYMPTOM OF PAIN THAT ACCOMPANIES 2482 01:43:31,640 --> 01:43:32,720 OR IS THAT NOT AN APPROPRIATE 2483 01:43:32,720 --> 01:43:42,880 QUESTION? 2484 01:50:14,160 --> 01:50:14,600 [TECHNICAL DIFFICULTIES] 2485 01:50:14,600 --> 01:50:16,440 -- IT'S THE INFORMATION 2486 01:50:16,440 --> 01:50:19,440 CLINICIANS ALSO HAVE AS WELL. 2487 01:50:19,440 --> 01:50:22,000 TO US IT'S WHAT WE'RE ALL 2488 01:50:22,000 --> 01:50:22,360 LOOKING TOWARDS. 2489 01:50:22,360 --> 01:50:25,080 WE DON'T WANT TO SILO EFFORTS AS 2490 01:50:25,080 --> 01:50:26,920 A PATIENT LEADER YOU HAVE TO GO 2491 01:50:26,920 --> 01:50:28,080 TO EACH GROUP INDIVIDUALLY TO 2492 01:50:28,080 --> 01:50:28,960 UPDATE INFORMATION. 2493 01:50:28,960 --> 01:50:32,000 PART OF WHAT WE NEED TO DO IS 2494 01:50:32,000 --> 01:50:33,360 THINK WHAT HELPS IMPROVE THE 2495 01:50:33,360 --> 01:50:35,240 INFORMATION FOR RARE DISEASES AS 2496 01:50:35,240 --> 01:50:37,960 A WHOLE AND HOW TO WE GAIN 2497 01:50:37,960 --> 01:50:39,560 ACCESS FOR EVERY EFFORT TO HAVE 2498 01:50:39,560 --> 01:50:44,640 AN IDEA. 2499 01:50:44,640 --> 01:50:50,840 >> I'VE WORKED WITH THE 2500 01:50:50,840 --> 01:50:52,920 RESEARCHERS AND I GOT MY VARIANT 2501 01:50:52,920 --> 01:50:56,320 OF UNKNOWN SIGNIFICANCE TO 2502 01:50:56,320 --> 01:50:57,680 LIKELY PATHOGENIC. 2503 01:50:57,680 --> 01:50:59,720 I'VE BEEN THROUGH THE ROAD AND 2504 01:50:59,720 --> 01:51:02,240 DR. BERG TOLD ME SOMETIMES THEY 2505 01:51:02,240 --> 01:51:06,360 DON'T WANT TO PUBLISH DATA ON 2506 01:51:06,360 --> 01:51:08,680 RESEARCH ON THESE ULTRA RARE 2507 01:51:08,680 --> 01:51:14,840 DISEASES BECAUSE THEY'RE NOT AS 2508 01:51:14,840 --> 01:51:20,440 POPULAR AS SOME OF THE MORE 2509 01:51:20,440 --> 01:51:24,320 POPU 2510 01:51:24,320 --> 01:51:30,680 POPULAR SPINOBELLARATAXIA AND IF 2511 01:51:30,680 --> 01:51:33,080 THEY DON'T GET PUBLISHED THE 2512 01:51:33,080 --> 01:51:37,320 RESEARCH DOESN'T GET FUNDED. 2513 01:51:37,320 --> 01:51:38,840 >> I THINK WE HAVE TO END THE 2514 01:51:38,840 --> 01:51:40,760 SESSION BUT I SUGGEST YOU GO UP 2515 01:51:40,760 --> 01:51:43,920 TO THE GARD BOOTH AND TALK TO 2516 01:51:43,920 --> 01:51:46,640 ERIC AND THE TEAM OF GETTING 2517 01:51:46,640 --> 01:51:47,520 THAT INFORMATION INTO GARD. 2518 01:51:47,520 --> 01:51:50,440 I ENCOURAGE ALL OF YOU TO DO 2519 01:51:50,440 --> 01:51:50,920 THAT. 2520 01:51:50,920 --> 01:51:53,840 MANY PRESENTATIONS HERE THERE'S 2521 01:51:53,840 --> 01:51:55,840 BOOTH OUTSIDE TO FOLLOW-UP. 2522 01:51:55,840 --> 01:51:58,680 >> THANK YOU FOR ANSWERING MY 2523 01:51:58,680 --> 01:51:59,040 QUESTION. 2524 01:51:59,040 --> 01:51:59,560 I APPRECIATE. 2525 01:51:59,560 --> 01:52:01,080 >> THANK YOU. 2526 01:52:01,080 --> 01:52:03,440 MANY OF THE PROGRAMS WE TALKED 2527 01:52:03,440 --> 01:52:04,600 ABOUT IN SESSION 1 DO HAVE 2528 01:52:04,600 --> 01:52:06,680 BOOTHS OR POSTERS AND OUR STAFF 2529 01:52:06,680 --> 01:52:08,320 WILL BE HERE THE WHOLE DAY. 2530 01:52:08,320 --> 01:52:10,720 TRYING TO FIND THEM AND ENSURE 2531 01:52:10,720 --> 01:52:21,160 THEY CAN ANSWER QUESTIONS. 2532 01:52:22,360 --> 01:52:30,640 >> I WANT TO INTRODUCE NIKITA 2533 01:52:30,640 --> 01:52:32,200 CURRY IN THE CLINICAL CENTER. 2534 01:52:32,200 --> 01:52:36,640 A CO-SPONSOR OF THIS EVENT. 2535 01:52:36,640 --> 01:52:46,720 THANK YOU. 2536 01:52:46,720 --> 01:52:48,440 >> I'M NIKITA CURRY IN THE 2537 01:52:48,440 --> 01:52:51,920 OFFICE OF PATIENT RECRUITMENT 2538 01:52:51,920 --> 01:52:52,960 UNDER OFFICE OF COMMUNICATION 2539 01:52:52,960 --> 01:53:03,320 AND MEDIA RELATIONS. 2540 01:53:04,640 --> 01:53:06,720 MY OFFICE EDUCATES PATIENTS AND 2541 01:53:06,720 --> 01:53:17,080 HEALTHY VOLUNTEERS. 2542 01:53:19,000 --> 01:53:21,600 WE TALK TO PEOPLE ALL OVER THE 2543 01:53:21,600 --> 01:53:22,800 WORLD ABOUT THEIR DISEASES. 2544 01:53:22,800 --> 01:53:25,920 WE TRY TO PROVIDE THEM RESOURCES 2545 01:53:25,920 --> 01:53:27,640 TO HELP THEM AND GUIDE THEM AND 2546 01:53:27,640 --> 01:53:30,400 GIVE THEM THE BEST GUIDANCE TO 2547 01:53:30,400 --> 01:53:31,840 MOVE FORWARD WITH THE 2548 01:53:31,840 --> 01:53:36,960 APPROPRIATE CARE THEY NEED TO 2549 01:53:36,960 --> 01:53:45,160 HELP THEM GET THROUGH THE 2550 01:53:45,160 --> 01:53:47,280 TROUBLING TIMES OR GET TO A 2551 01:53:47,280 --> 01:53:48,440 STUDY OR IF THEY NEED 2552 01:53:48,440 --> 01:53:50,720 INFORMATION ON A CLINICAL TRIAL 2553 01:53:50,720 --> 01:53:52,480 MY OFFICE HELPS THEM AND OPEN 2554 01:53:52,480 --> 01:53:53,720 MONDAY THROUGH FRIDAY 8:00 TO 2555 01:53:53,720 --> 01:53:53,960 4:00. 2556 01:53:53,960 --> 01:53:55,760 WE USE SEVERAL RESOURCES. 2557 01:53:55,760 --> 01:53:59,480 I'LL GO OVER A FEW TODAY TO 2558 01:53:59,480 --> 01:54:01,160 SHARE WITH YOU HOW WE FIND THE 2559 01:54:01,160 --> 01:54:02,120 CLINICAL TRIALS AND HOW YOU CAN 2560 01:54:02,120 --> 01:54:03,000 FIND THE CLINICAL TRIALS. 2561 01:54:03,000 --> 01:54:05,600 IF YOU HAVE TROUBLE USING OUR 2562 01:54:05,600 --> 01:54:06,520 WEBSITES THAT'S WHY WE'RE THERE. 2563 01:54:06,520 --> 01:54:09,840 YOU CAN CALL US AND WE'LL HELP 2564 01:54:09,840 --> 01:54:11,680 YOU FIND THE INFORMATION YOU 2565 01:54:11,680 --> 01:54:11,880 NEED. 2566 01:54:11,880 --> 01:54:13,200 WE HAVE DIFFERENT CONTRACTORS 2567 01:54:13,200 --> 01:54:15,280 THAT CAN HELP US WITH THOSE WHO 2568 01:54:15,280 --> 01:54:16,480 SPEAK DIFFERENT LANGUAGES SO 2569 01:54:16,480 --> 01:54:19,880 DON'T BE AFRAID TO CONTACT US IF 2570 01:54:19,880 --> 01:54:21,240 YOU SPEAK A DIFFERENT LANGUAGE 2571 01:54:21,240 --> 01:54:28,280 WE CAN HELP YOU. 2572 01:54:28,280 --> 01:54:30,760 THIS IS A WEBSITE WE USED CALLED 2573 01:54:30,760 --> 01:54:32,240 SEARCH TO STUDIES. 2574 01:54:32,240 --> 01:54:35,000 IT WAS REVAMPED LAST YEAR AND 2575 01:54:35,000 --> 01:54:37,840 TRIED TO MAKE IT MORE USER 2576 01:54:37,840 --> 01:54:40,280 FRIENDLY AND SEVERAL DROP DOWNS 2577 01:54:40,280 --> 01:54:41,840 FOR DIFFERENT CHILDREN'S STUDIES 2578 01:54:41,840 --> 01:54:43,240 AND REMOTE STUDIES. 2579 01:54:43,240 --> 01:54:44,680 THE OPTIONS WEREN'T THERE A YEAR 2580 01:54:44,680 --> 01:54:52,080 AGO. 2581 01:54:52,080 --> 01:54:53,600 YOU CAN LOOK BY SEX OR INSTITUTE 2582 01:54:53,600 --> 01:54:56,440 AND IT'S FOR ALL THE STUDIES 2583 01:54:56,440 --> 01:54:59,040 THAT HAPPEN HERE FOR NIH. 2584 01:54:59,040 --> 01:55:02,840 THE OTHER WEBSITE -- I HAD THE Q 2585 01:55:02,840 --> 01:55:06,760 CODES TO TAKE YOU DIRECTLY TO 2586 01:55:06,760 --> 01:55:07,240 THE WEBSITES. 2587 01:55:07,240 --> 01:55:08,480 I THOUGHT THAT'D BE A GREAT 2588 01:55:08,480 --> 01:55:10,000 RESOURCE TO SHARE. 2589 01:55:10,000 --> 01:55:12,560 THIS OTHER WEBSITE IS CLINICAL 2590 01:55:12,560 --> 01:55:13,280 TRIALS.gov. 2591 01:55:13,280 --> 01:55:16,880 THEY HAVE STUDIES THROUGHOUT THE 2592 01:55:16,880 --> 01:55:20,280 WHOLE COUNTRY ABOUT 50 STATES 2593 01:55:20,280 --> 01:55:21,560 AND 221 COUNTRIES. 2594 01:55:21,560 --> 01:55:26,920 IT'S THE SAME AS THE SEARCH THE 2595 01:55:26,920 --> 01:55:28,320 STUDIES OTHER THAN IT CAN SHARE 2596 01:55:28,320 --> 01:55:29,040 INFORMATION FOR STUDIES ANYWHERE 2597 01:55:29,040 --> 01:55:31,360 AROUND THE WORLD. 2598 01:55:31,360 --> 01:55:32,440 WE CAN ALSO DO THIS INFORMATION 2599 01:55:32,440 --> 01:55:35,480 FOR YOU WHEN YOU CALL US. 2600 01:55:35,480 --> 01:55:37,160 WE CAN GIVE YOU THIS INFORMATION 2601 01:55:37,160 --> 01:55:39,120 OVER THE PHONE AND GO OVER THE 2602 01:55:39,120 --> 01:55:40,040 STUDY AND QUESTIONS AND CONCERNS 2603 01:55:40,040 --> 01:55:41,400 YOU HAVE ABOUT THE STUDY. 2604 01:55:41,400 --> 01:55:46,240 MY TEAM IS THERE TO HELP SUPPORT 2605 01:55:46,240 --> 01:55:49,200 YOU AND GET YOU THROUGH WHAT IS 2606 01:55:49,200 --> 01:55:49,440 NEEDED. 2607 01:55:49,440 --> 01:55:51,160 YOU HAVE THE WEBSITE AND WE'LL 2608 01:55:51,160 --> 01:55:51,840 BE THERE TO HELP YOU. 2609 01:55:51,840 --> 01:55:54,040 YOU CAN SEND AN E-MAIL AND ALL 2610 01:55:54,040 --> 01:55:56,080 THE INFORMATION IS IN THE DECK. 2611 01:55:56,080 --> 01:55:56,720 I'LL SHARE THAT INFORMATION 2612 01:55:56,720 --> 01:56:00,640 TODAY AS WELL. 2613 01:56:00,640 --> 01:56:03,680 OFTEN TIMES WE DO HAVE PEOPLE 2614 01:56:03,680 --> 01:56:06,720 WHO CALL US AND DON'T HAVE THE 2615 01:56:06,720 --> 01:56:08,440 DISEASE AND WE HAVE AN 2616 01:56:08,440 --> 01:56:09,760 UNDIAGNOSED DISEASE NETWORK. 2617 01:56:09,760 --> 01:56:12,440 THIS IS A GREAT WEBSITE WE USE 2618 01:56:12,440 --> 01:56:16,400 ON A DAY TO DAY TO HELP PEOPLE 2619 01:56:16,400 --> 01:56:18,800 PROVIDE THEM WITH RESOURCES TO 2620 01:56:18,800 --> 01:56:20,440 SHARE IF THE CAN'T FIND -- 2621 01:56:20,440 --> 01:56:21,760 THEY'RE HAVING SYMPTOMS AND 2622 01:56:21,760 --> 01:56:23,640 DON'T KNOW WHAT THE DISEASE IS. 2623 01:56:23,640 --> 01:56:25,560 SO WE KIND OF GO THROUGH THE 2624 01:56:25,560 --> 01:56:26,800 WEBSITE WITH THEM WHEN THEY'RE 2625 01:56:26,800 --> 01:56:28,320 ON THE PHONE WITH US OR IF THEY 2626 01:56:28,320 --> 01:56:30,560 SEND US THE E-MAIL WE CAN SHOW 2627 01:56:30,560 --> 01:56:32,280 THEM HOW TO USE THE WEBSITE. 2628 01:56:32,280 --> 01:56:35,480 IT'S VERY BENEFICIAL AND HELPFUL 2629 01:56:35,480 --> 01:56:36,440 TO THOSE EXPERIENCING SYMPTOMS 2630 01:56:36,440 --> 01:56:37,720 BUT DON'T KNOW WHERE TO START. 2631 01:56:37,720 --> 01:56:40,440 THIS IS ONE OF THE FIRST 2632 01:56:40,440 --> 01:56:42,280 WEBSITES WE CONNECT PEOPLE WITH 2633 01:56:42,280 --> 01:56:47,720 WHEN THEY COME TO US AND DON'T 2634 01:56:47,720 --> 01:56:50,800 HAVE -- THEY ARE EXPERIENCING 2635 01:56:50,800 --> 01:56:51,800 PAIN AND HAVING SYMPTOMS AND 2636 01:56:51,800 --> 01:56:52,960 DON'T KNOW WHERE TO GO. 2637 01:56:52,960 --> 01:56:56,440 I WANTED TO SHARE THIS WEBSITE 2638 01:56:56,440 --> 01:56:57,520 WITH THE AUDIENCE. 2639 01:56:57,520 --> 01:56:59,640 IT'S HELPED INDIVIDUALS WHO 2640 01:56:59,640 --> 01:57:01,120 CONTACTED US IN THE PAST AND I'M 2641 01:57:01,120 --> 01:57:02,520 PROUD OF THE WORK THEY'RE DOING 2642 01:57:02,520 --> 01:57:04,440 AND IT'S A GREAT RESOURCE TO 2643 01:57:04,440 --> 01:57:08,800 HAVE. 2644 01:57:08,800 --> 01:57:11,960 AND ANOTHER HELPFUL HINT AND MY 2645 01:57:11,960 --> 01:57:13,360 COLLEAGUE WILL SPEAK IN MORE 2646 01:57:13,360 --> 01:57:16,160 DETAIL ABOUT THIS BUT I WANTED 2647 01:57:16,160 --> 01:57:17,360 TO SHARE INFORMATION ON THE 2648 01:57:17,360 --> 01:57:18,000 CHILDREN'S END. 2649 01:57:18,000 --> 01:57:19,760 WE HAVE CHILDREN'S STUDIES HERE. 2650 01:57:19,760 --> 01:57:23,800 A LOT OF PEOPLE DON'T KNOW THAT 2651 01:57:23,800 --> 01:57:26,000 AND WE WANT PEOPLE TO KNOW WE'RE 2652 01:57:26,000 --> 01:57:28,520 HERE IF YOU HAVE A CHILD ON A 2653 01:57:28,520 --> 01:57:31,560 STUDY -- YOU HAVE TO BE ON A 2654 01:57:31,560 --> 01:57:33,120 STUDY, WE CAN'T JUST CALL UP. 2655 01:57:33,120 --> 01:57:35,600 IT'S NOT LIKE A NORMAL HOTEL 2656 01:57:35,600 --> 01:57:37,920 WHERE YOU SHOW UP AND ASSUME 2657 01:57:37,920 --> 01:57:38,600 THEY'LL TAKE YOU. 2658 01:57:38,600 --> 01:57:41,280 AISHA WILL GO OVER THAT IN MORE 2659 01:57:41,280 --> 01:57:44,680 DETAIL BUT PHENOMENAL STAFF AND 2660 01:57:44,680 --> 01:57:46,080 PHENOMENAL PLACE AND GREAT 2661 01:57:46,080 --> 01:57:47,680 RESOURCE WE LIKE TO SHARE WHEN 2662 01:57:47,680 --> 01:57:49,760 WE'RE SPEAKING WITH PATIENTS AND 2663 01:57:49,760 --> 01:57:52,680 THEIR FAMILY MEMBERS ABOUT THE 2664 01:57:52,680 --> 01:57:53,920 STUDIES AT THE NIH AND THEY'RE 2665 01:57:53,920 --> 01:57:55,600 COMING FROM AFAR. 2666 01:57:55,600 --> 01:58:02,680 SAME FOR THE SAFRA LODGE. 2667 01:58:02,680 --> 01:58:04,280 TYPICALLY WHEN YOU'RE ON A 2668 01:58:04,280 --> 01:58:06,120 STUDY, WE WILL CONNECT YOU WITH 2669 01:58:06,120 --> 01:58:08,440 A SOCIAL WORKER AND THEY'LL SET 2670 01:58:08,440 --> 01:58:09,760 UP ALL THIS INFORMATION FOR YOU 2671 01:58:09,760 --> 01:58:12,080 SO HAVE YOU A RESOURCE AND 2672 01:58:12,080 --> 01:58:13,840 CONTACT THAT WILL HELP YOU GET 2673 01:58:13,840 --> 01:58:17,040 THROUGH ANYTHING YOU NEED DURING 2674 01:58:17,040 --> 01:58:18,880 YOUR TIME HERE ON A CLINIC 2675 01:58:18,880 --> 01:58:28,920 STUDY. 2676 01:58:28,920 --> 01:58:31,520 AND I WANTED TO TALK ABOUT FOR A 2677 01:58:31,520 --> 01:58:32,880 RARE DISEASE IF YOU KNOW SOMEONE 2678 01:58:32,880 --> 01:58:36,240 PERSONALLY OR COMING WITH YOUR 2679 01:58:36,240 --> 01:58:38,840 FAMILY MEMBER AND HERE FOR AN 2680 01:58:38,840 --> 01:58:39,640 EXTENDED PERIOD OF TIME. 2681 01:58:39,640 --> 01:58:41,680 WE NEED HEALTHY VOLUNTEERS. 2682 01:58:41,680 --> 01:58:43,360 THEY PLAY A VITAL ROLE TO SOME 2683 01:58:43,360 --> 01:58:44,440 OF THE RARE DISEASES WE HAVE 2684 01:58:44,440 --> 01:58:49,200 GOING ON HERE. 2685 01:58:49,200 --> 01:58:50,840 I WANTED TO SHARE THE 2686 01:58:50,840 --> 01:58:54,880 INFORMATION HOW TO REGISTER AND 2687 01:58:54,880 --> 01:58:58,040 WE HAVE A LIST SERVE ON STUDIES 2688 01:58:58,040 --> 01:59:00,160 AND YOU CAN CALL US ANYTIME. 2689 01:59:00,160 --> 01:59:06,640 LAST YEAR WE PUT TOGETHER OUR 2690 01:59:06,640 --> 01:59:08,440 FIRST HEALTHY VOLUNTEER REGISTRY 2691 01:59:08,440 --> 01:59:08,640 ONLINE. 2692 01:59:08,640 --> 01:59:09,840 YOU DON'T HAVE TO CALL. 2693 01:59:09,840 --> 01:59:11,760 IT'S BEEN SUCCESSFUL TO HAVE 2694 01:59:11,760 --> 01:59:13,280 PEOPLE GO ONLINE AND REGISTER 2695 01:59:13,280 --> 01:59:15,520 THEMSELVES AND WE CONTACT THEM 2696 01:59:15,520 --> 01:59:16,280 IF WE HAVE QUESTIONS BUT IT'S 2697 01:59:16,280 --> 01:59:19,920 BEEN VERY USEFUL. 2698 01:59:19,920 --> 01:59:21,720 I DID WANT TO PUT THAT 2699 01:59:21,720 --> 01:59:22,520 INFORMATION OUT. 2700 01:59:22,520 --> 01:59:24,440 COMPENSATION MAY BE PROVIDED FOR 2701 01:59:24,440 --> 01:59:27,280 SOME STUDIES IF YOU CHOOSE TO 2702 01:59:27,280 --> 01:59:30,040 BECOME A HEALTHY VOLUNTEER. 2703 01:59:30,040 --> 01:59:32,440 I ALSO WANTED TO PUT THE 2704 01:59:32,440 --> 01:59:35,280 INFORMATION OUT HOW TO FIND US. 2705 01:59:35,280 --> 01:59:36,800 WE'RE RECENTLY ON INSTAGRAM AS 2706 01:59:36,800 --> 01:59:39,000 OF APRIL THIS YEAR WILL BE A 2707 01:59:39,000 --> 01:59:39,200 YEAR. 2708 01:59:39,200 --> 01:59:40,920 WE'RE ON FACEBOOK AND TWITTER. 2709 01:59:40,920 --> 01:59:44,240 WE'RE TRYING TO STAY SOCIALLY 2710 01:59:44,240 --> 01:59:45,720 CONNECTED AND BE INVOLVED AND 2711 01:59:45,720 --> 01:59:47,240 MEET PEOPLE WHERE THEY ARE. 2712 01:59:47,240 --> 01:59:49,360 WE KNOW NOT EVERYONE WILL BE ON 2713 01:59:49,360 --> 01:59:51,400 EVERY PLATFORM BUT WE WANT TO 2714 01:59:51,400 --> 01:59:52,480 TAKE THE OPPORTUNITY TO GAUGE 2715 01:59:52,480 --> 01:59:53,880 DIFFERENT AUDIENCES AND MEET 2716 01:59:53,880 --> 01:59:56,480 THEM WHERE THEY ARE SO WE CAN 2717 01:59:56,480 --> 01:59:56,960 STAY INVOLVED WITH THE 2718 01:59:56,960 --> 02:00:06,320 COMMUNITY. 2719 02:00:06,320 --> 02:00:08,600 I WANTED TO SHARE PICTURES OF MY 2720 02:00:08,600 --> 02:00:11,960 TEAM BEFORE THE PANDEMIC WE WERE 2721 02:00:11,960 --> 02:00:12,240 EVERYWHERE. 2722 02:00:12,240 --> 02:00:14,760 WE ARE WANTING TO GET BACK TO 2723 02:00:14,760 --> 02:00:15,160 BEING EVERYWHERE. 2724 02:00:15,160 --> 02:00:16,920 IF YOU'RE AWARE OF AN 2725 02:00:16,920 --> 02:00:18,040 ORGANIZATION OR EVENT YOU THINK 2726 02:00:18,040 --> 02:00:19,840 WOULD BE GOOD FOR US TO GET OUR 2727 02:00:19,840 --> 02:00:22,560 FEET ON THE GROUND, LET US KNOW. 2728 02:00:22,560 --> 02:00:24,400 WE'RE LOOKING FOR THOSE TYPES OF 2729 02:00:24,400 --> 02:00:25,760 EVENTS NOW AND HOPEFULLY THINGS 2730 02:00:25,760 --> 02:00:28,440 HAVE CALMED DOWN WIN COVID. 2731 02:00:28,440 --> 02:00:29,280 -- WITH COVID. 2732 02:00:29,280 --> 02:00:30,800 WE'RE A TEAM AND HERE TO HELP 2733 02:00:30,800 --> 02:00:32,320 YOU PROVIDE RESOURCES. 2734 02:00:32,320 --> 02:00:34,400 I TELL MY TEAM, WHEN PEOPLE CALL 2735 02:00:34,400 --> 02:00:36,800 US WE DON'T WANT TO LEAVE THEM 2736 02:00:36,800 --> 02:00:38,120 EMPTY HANDED. 2737 02:00:38,120 --> 02:00:40,120 WE WANT TO GIVE THEM SOMETHING, 2738 02:00:40,120 --> 02:00:42,120 SOME BIT OF HOPE WHEN THEY REACH 2739 02:00:42,120 --> 02:00:43,800 OUT TO OUR OFFICE. 2740 02:00:43,800 --> 02:00:45,920 E-MAIL US, WRITE US ON SOCIAL 2741 02:00:45,920 --> 02:00:47,200 MEDIA WE'LL RESPOND TO YOUR 2742 02:00:47,200 --> 02:00:47,640 COMMENTS. 2743 02:00:47,640 --> 02:00:48,440 WE DON'T DELETE THEM. 2744 02:00:48,440 --> 02:00:50,320 WE'LL RESPOND AND READ THEM AND 2745 02:00:50,320 --> 02:00:51,440 SHARE THEM AND COLLABORATE 2746 02:00:51,440 --> 02:00:52,560 TOGETHER WITH OUR OTHER 2747 02:00:52,560 --> 02:00:54,080 COLLEAGUES AT NIH. 2748 02:00:54,080 --> 02:01:04,600 THANK YOU SO MUCH FOR YOUR TIME. 2749 02:01:26,200 --> 02:01:27,880 IF YOU DON'T HAVE A QUESTION 2750 02:01:27,880 --> 02:01:30,040 RIGHT NOW THAT'S FINE. 2751 02:01:30,040 --> 02:01:30,760 SHE HAS A BOOTH. 2752 02:01:30,760 --> 02:01:32,440 WE'RE PLEASED TO SHARE ALL THE 2753 02:01:32,440 --> 02:01:34,520 RESOURCES ON CLINICAL TRIALS 2754 02:01:34,520 --> 02:01:35,680 FROM THE NIH CLINICAL CENTER. 2755 02:01:35,680 --> 02:01:39,080 NOW WE'RE GOING TO JUMP INTO THE 2756 02:01:39,080 --> 02:01:40,080 RESOURCES THAT THE CHILDREN'S 2757 02:01:40,080 --> 02:01:43,200 INN OFFERS FOR PATIENTS AND 2758 02:01:43,200 --> 02:01:43,600 FAMILIES. 2759 02:01:43,600 --> 02:01:45,200 AISHA CAMPBELL IS THE DIRECTOR 2760 02:01:45,200 --> 02:01:52,440 OF RESIDENT SERVICES AND FAMILY 2761 02:01:52,440 --> 02:01:52,960 PROGRAMMING AT THE INN. 2762 02:01:52,960 --> 02:01:59,600 THANK YOU. 2763 02:01:59,600 --> 02:02:01,680 >> HELLO, EVERYONE. 2764 02:02:01,680 --> 02:02:05,360 AS MENTIONED I AM AISHA CAMPBELL 2765 02:02:05,360 --> 02:02:07,720 DIRECTOR OF RESIDENT SERVICES 2766 02:02:07,720 --> 02:02:08,720 AND FAMILY PROGRAMS AT THE 2767 02:02:08,720 --> 02:02:09,200 CHILDREN'S INN. 2768 02:02:09,200 --> 02:02:12,160 WHAT THAT MEANS IS MYSELF AND MY 2769 02:02:12,160 --> 02:02:14,160 TEAM ARE THE PEOPLE, TEAMS, THAT 2770 02:02:14,160 --> 02:02:16,360 DIRECTLY INTERACT WITH THE 2771 02:02:16,360 --> 02:02:18,680 MEDICAL TEAMS BUT ALSO THE 2772 02:02:18,680 --> 02:02:18,960 FAMILIES. 2773 02:02:18,960 --> 02:02:20,160 A LITTLE BIT ABOUT THE INN. 2774 02:02:20,160 --> 02:02:21,960 THE CHILDREN'S INN WAS 2775 02:02:21,960 --> 02:02:23,240 ESTABLISHED IN 1990. 2776 02:02:23,240 --> 02:02:26,440 IT IS THE PRIVATE NON-PROFIT 2777 02:02:26,440 --> 02:02:28,000 RESIDENCE FOR SERIOUSLY ILL 2778 02:02:28,000 --> 02:02:29,880 CHILDREN, TEAMS, YOUNG ADULTS 2779 02:02:29,880 --> 02:02:33,160 AND THEIR FAMILIES PARTICIPATING 2780 02:02:33,160 --> 02:02:34,560 IN CLINICAL RESEARCH STUDIES AT 2781 02:02:34,560 --> 02:02:34,840 THE NIH. 2782 02:02:34,840 --> 02:02:42,000 THE INN HAS A UNIQUE 2783 02:02:42,000 --> 02:02:42,640 PUBLIC-PRIVATE PARTNERSHIP WHILE 2784 02:02:42,640 --> 02:02:44,520 WE'RE ON THE FEDERALLY FUNDED 2785 02:02:44,520 --> 02:02:47,600 CAMPUS OF THE NIH WE'RE A 2786 02:02:47,600 --> 02:02:48,440 PRIVATE-NONPROFIT. 2787 02:02:48,440 --> 02:02:49,960 WE RELY SOLELY ON CONTRIBUTION. 2788 02:02:49,960 --> 02:02:52,160 NO MEDICAL TREATMENTS OCCUR AT 2789 02:02:52,160 --> 02:02:53,240 THE CHILDREN'S INN. 2790 02:02:53,240 --> 02:02:55,000 ALL OF THE APPOINTMENTS ARE AT 2791 02:02:55,000 --> 02:03:05,360 THE CLINICAL CENTER. 2792 02:03:06,040 --> 02:03:07,640 OUR MISSION IS TO MEET THE NEEDS 2793 02:03:07,640 --> 02:03:08,920 OF CHILDREN'S AND FAMILY 2794 02:03:08,920 --> 02:03:10,280 PARTICIPATING IN GROUNDBREAKING 2795 02:03:10,280 --> 02:03:11,680 RESEARCH AT THE NIH. 2796 02:03:11,680 --> 02:03:14,600 WE STRIVE TO ONE, RESPOND TO 2797 02:03:14,600 --> 02:03:17,560 EVOLVING FAMILY SUPPORT NEEDS 2798 02:03:17,560 --> 02:03:18,560 FOR PEDIATRIC RESEARCH AND 2799 02:03:18,560 --> 02:03:19,480 CLINICAL CARE. 2800 02:03:19,480 --> 02:03:21,920 TWO, PROVIDE A FREE 2801 02:03:21,920 --> 02:03:23,400 FAMILY-CENTERED PLACE LIKE HOME. 2802 02:03:23,400 --> 02:03:25,600 IF YOU'RE SAYING WITH US AT THE 2803 02:03:25,600 --> 02:03:27,760 CHILDREN'S INN IT'S AT NO COST. 2804 02:03:27,760 --> 02:03:28,480 EVERYTHING PROVIDED TO YOU IS 2805 02:03:28,480 --> 02:03:31,000 FREE OF CHARGE. 2806 02:03:31,000 --> 02:03:33,800 THREE, REDUCE THE BURDEN OF 2807 02:03:33,800 --> 02:03:34,400 ILLNESS THROUGH THERAPEUTIC 2808 02:03:34,400 --> 02:03:35,600 HEALTH AND WELLNESS AND 2809 02:03:35,600 --> 02:03:38,720 RECREATIONAL PROGRAMS. 2810 02:03:38,720 --> 02:03:41,720 SINCE OPENING OUR DOORS IN 1990, 2811 02:03:41,720 --> 02:03:45,680 THE CHILDREN'S INN HAS SERVED 2812 02:03:45,680 --> 02:03:48,440 OVER 16,000 PATIENTS AND 2813 02:03:48,440 --> 02:03:54,160 FAMILIES. 2814 02:03:54,160 --> 02:03:56,200 IT REACHES 160 COUNTRIES AND 2815 02:03:56,200 --> 02:03:58,560 FROM 2022 TO 2023 CHILDREN'S, 2816 02:03:58,560 --> 02:04:00,840 TEENS AND YOUNG ADULTS 0 TO 29 2817 02:04:00,840 --> 02:04:06,560 HAVE PARTICIPATED IN CLOSE TO 2818 02:04:06,560 --> 02:04:08,240 500 CLINICAL RESEARCH STUDIES 2819 02:04:08,240 --> 02:04:10,760 REPRESENTING ADVANCES IN CANCER, 2820 02:04:10,760 --> 02:04:13,560 BONE AND GROWTH DISORDERS, 2821 02:04:13,560 --> 02:04:15,320 ILLNESS AND GENETIC CONDITIONS 2822 02:04:15,320 --> 02:04:16,400 AND OTHER SERIOUS HEALTH ISSUES. 2823 02:04:16,400 --> 02:04:18,800 RESIDENTS AT THE INN ARE TREATED 2824 02:04:18,800 --> 02:04:20,640 AT 14 OF THE 27 RESEARCH 2825 02:04:20,640 --> 02:04:23,800 INSTITUTES AND CENTERS HERE AT 2826 02:04:23,800 --> 02:04:25,720 TO THE NIH WITH 60 FAMILY 2827 02:04:25,720 --> 02:04:28,760 BEDROOMS, THREE COMMUNITY 2828 02:04:28,760 --> 02:04:32,960 APARTMENTS AND MULTIPLE PROGRAM 2829 02:04:32,960 --> 02:04:33,200 SPACE. 2830 02:04:33,200 --> 02:04:35,280 WE OPERATE 24 HOURS A DAY, 365 2831 02:04:35,280 --> 02:04:36,800 DAYS A YEAR. 2832 02:04:36,800 --> 02:04:38,560 TO STAY AT THE CHILDREN'S INN 2833 02:04:38,560 --> 02:04:41,040 YOU HAVE TO BE PARTICIPATING IN 2834 02:04:41,040 --> 02:04:42,120 A PEDIATRIC CLINICAL TRIAL, BE 2835 02:04:42,120 --> 02:04:43,960 BETWEEN THE AGES OF BIRTH AND 2836 02:04:43,960 --> 02:04:46,160 YOUR 30th BIRTHDAY BUT ALSO YOUR 2837 02:04:46,160 --> 02:04:48,680 MEDICAL TEAM HAS TO MAKE YOUR 2838 02:04:48,680 --> 02:04:49,760 FIRST APPOINTMENT. 2839 02:04:49,760 --> 02:04:52,480 APPOINTMENTS AFTER THAT CAN BE 2840 02:04:52,480 --> 02:04:55,680 MADE BY THE FAMILY. 2841 02:04:55,680 --> 02:04:56,920 WITH WORKING TO REDUCE THE 2842 02:04:56,920 --> 02:04:58,720 BURDEN OF ILLNESS THROUGH A 2843 02:04:58,720 --> 02:05:00,560 SUPPORTIVE ENVIRONMENT, WE OFFER 2844 02:05:00,560 --> 02:05:02,240 FAMILIES FINANCIAL SUPPORT IN 2845 02:05:02,240 --> 02:05:03,760 THE FORM OF AN EMERGENCY FUND 2846 02:05:03,760 --> 02:05:07,560 FOR PAST-DUE BILLS, A 2847 02:05:07,560 --> 02:05:08,800 SCHOLARSHIP PROGRAM TO SUPPORT 2848 02:05:08,800 --> 02:05:09,640 CHILDREN'S EDUCATIONAL 2849 02:05:09,640 --> 02:05:10,760 THERAPEUTIC NEEDS AT HOME. 2850 02:05:10,760 --> 02:05:13,760 AS FAR AS ACTIVITIES WE OFFER 2851 02:05:13,760 --> 02:05:16,440 S.T.E.M. BASED ACTIVITIES, 2852 02:05:16,440 --> 02:05:19,160 TUTORING SERVICES AND LIFE SKILL 2853 02:05:19,160 --> 02:05:23,000 LESSONS AND NUTRITION AND 2854 02:05:23,000 --> 02:05:25,920 EXERCISE CLASSES AND AC YOU 2855 02:05:25,920 --> 02:05:26,560 PRESSURE AND PROVIDE 2856 02:05:26,560 --> 02:05:28,440 COMPLIMENTARY MEALS EACH DAY TO 2857 02:05:28,440 --> 02:05:30,800 EASE THE FLOW OF THE DAY DUE TO 2858 02:05:30,800 --> 02:05:32,320 THEIR APPOINTMENTS AND PROVIDE 2859 02:05:32,320 --> 02:05:33,720 THE CONVENIENCE OF ARRIVING TO 2860 02:05:33,720 --> 02:05:36,440 WHAT WE CONSIDER AS THEIR HOME 2861 02:05:36,440 --> 02:05:38,680 TO A PREPARED MEAL. 2862 02:05:38,680 --> 02:05:40,360 AS FAR AS FIELD TRIPS WE TAKE 2863 02:05:40,360 --> 02:05:50,840 FAMILIES TO D.C., BOWLING, 2864 02:05:51,400 --> 02:05:54,240 KARAOKE AND MOVIE TRIPS. 2865 02:05:54,240 --> 02:05:56,280 ONE THING ABOUT THE CHILDREN'S 2866 02:05:56,280 --> 02:05:58,480 INN, ONE, WE BELIEVE IN 2867 02:05:58,480 --> 02:06:00,160 COMMUNITY AND WANT IT TO BE A 2868 02:06:00,160 --> 02:06:01,640 FULFILLING EXPERIENCE FOR THE 2869 02:06:01,640 --> 02:06:02,280 FAMILY. 2870 02:06:02,280 --> 02:06:06,280 WHAT WE CONSIDER THE CHILDREN'S 2871 02:06:06,280 --> 02:06:08,160 INN, FAMILIES HAVE CONSIDERED US 2872 02:06:08,160 --> 02:06:11,240 AS GREAT AS DISNEY WORLD, WHICH 2873 02:06:11,240 --> 02:06:12,800 IS A PLUS AND ALSO WE LIKE TO 2874 02:06:12,800 --> 02:06:14,520 THINK WE'RE MEETING ALL THE 2875 02:06:14,520 --> 02:06:15,400 NEEDS OF THE FAMILIES AS SOON AS 2876 02:06:15,400 --> 02:06:17,480 THEY WALK THROUGH THE DOOR. 2877 02:06:17,480 --> 02:06:24,240 SO STRIVING FOR THAT IS LIKE 2878 02:06:24,240 --> 02:06:25,760 PERFECTION FOR US AND WE PROVIDE 2879 02:06:25,760 --> 02:06:28,040 TRANSPORTATION FOR FAMILIES, TO 2880 02:06:28,040 --> 02:06:30,720 AND FROM THE AIRPORT AND A LIMO 2881 02:06:30,720 --> 02:06:33,200 AWAITS AT THE DESIGNATED TRAVEL 2882 02:06:33,200 --> 02:06:34,720 TIME AND THE DRIVER TRACKS THE 2883 02:06:34,720 --> 02:06:35,400 FLIGHT FOR DELAYS. 2884 02:06:35,400 --> 02:06:38,240 THIS IS A SERVICE FAMILIES USED 2885 02:06:38,240 --> 02:06:40,320 BASED ON THE FACT THE SERVICES 2886 02:06:40,320 --> 02:06:42,080 CATER TO THEIR TRANSPORTATION 2887 02:06:42,080 --> 02:06:44,280 NEEDS AND SCHEDULE PLUS SOMEONE 2888 02:06:44,280 --> 02:06:49,600 HOLDS A SIGN AS YOU ARRIVE LIKE 2889 02:06:49,600 --> 02:06:53,600 YOU'RE A CELEBRITY SO THAT'S A 2890 02:06:53,600 --> 02:06:53,800 PLUS. 2891 02:06:53,800 --> 02:06:55,800 HERE'S A FEW OF OUR SPACES. 2892 02:06:55,800 --> 02:06:58,640 THE PLAY ROOM IS ON THE TOP LEFT 2893 02:06:58,640 --> 02:07:06,840 AND GAME ROOM ON THE RIGHT WITH 2894 02:07:06,840 --> 02:07:08,080 GAMES WHERE YOU CAN FIND MOST 2895 02:07:08,080 --> 02:07:12,520 TEENS AND ADULTS AND ON THE LEFT 2896 02:07:12,520 --> 02:07:16,760 IS BISTRO ACTIVITIES AND THE 2897 02:07:16,760 --> 02:07:18,960 LOWER RIGHT IS THE LOUNGE. 2898 02:07:18,960 --> 02:07:20,160 WE'RE CALLED THE CHILDREN'S INN 2899 02:07:20,160 --> 02:07:22,240 AND THIS IS WHERE TEENS AND 2900 02:07:22,240 --> 02:07:23,560 ADULTS CAN HAVE PRIVACY 2901 02:07:23,560 --> 02:07:24,800 ESPECIALLY IF A LOT OF CHILDREN 2902 02:07:24,800 --> 02:07:25,440 ARE IN HOUSE. 2903 02:07:25,440 --> 02:07:27,000 HERE'S ADDITIONAL SPACES. 2904 02:07:27,000 --> 02:07:30,840 THE TOP LEFT IS OUR ART GALLERY 2905 02:07:30,840 --> 02:07:32,360 HALLWAY WE HAVE ARTWORK 2906 02:07:32,360 --> 02:07:35,840 COMPLETED BY OUR FAMILIES AND 2907 02:07:35,840 --> 02:07:37,480 TOP RIGHT IS OUR BOOK NOOK OR 2908 02:07:37,480 --> 02:07:40,280 ALL AGES THROUGHOUT OUR SPACES. 2909 02:07:40,280 --> 02:07:42,640 OUR SPORT COURT ON THE LOWER 2910 02:07:42,640 --> 02:07:44,440 LEFT WITH DIFFERENT SPORTING 2911 02:07:44,440 --> 02:07:45,920 EQUIPMENT FOR FAMILIES TO ENJOY 2912 02:07:45,920 --> 02:07:47,680 AND OUR COMPUTER ROOM ON THE 2913 02:07:47,680 --> 02:07:49,520 LOWER RIGHT WHERE FAMILIES CAN 2914 02:07:49,520 --> 02:07:52,880 SURF THE NET, MOST TEENAGERS 2915 02:07:52,880 --> 02:07:53,960 WATCH YOUTUBE AND THESE SPACES 2916 02:07:53,960 --> 02:07:55,520 ARE SPECIAL TO US AND THE 2917 02:07:55,520 --> 02:07:59,000 FAMILIES BECAUSE THEY ALLOW FOR 2918 02:07:59,000 --> 02:08:02,440 THEM TO BE WHICH IS REALLY NICE. 2919 02:08:02,440 --> 02:08:07,960 FEEL FREE TO REACHOUS TO -- 2920 02:08:07,960 --> 02:08:09,480 REACH OUT TO ME FOR ADDITIONAL 2921 02:08:09,480 --> 02:08:10,400 QUESTIONS YOU HAVE ABOUT THE 2922 02:08:10,400 --> 02:08:11,040 CHILDREN'S INN OR QUESTIONS YOU 2923 02:08:11,040 --> 02:08:11,280 MAY HAVE. 2924 02:08:11,280 --> 02:08:21,480 THANK YOU. 2925 02:08:22,600 --> 02:08:24,880 >> SO THANK YOU FOR ALL YOUR 2926 02:08:24,880 --> 02:08:27,120 WORK AND ALL THE WORK ON 2927 02:08:27,120 --> 02:08:27,400 RECRUITING. 2928 02:08:27,400 --> 02:08:30,840 MY COMMENT IS FOR COLLEAGUES AT 2929 02:08:30,840 --> 02:08:32,040 THE NIH. 2930 02:08:32,040 --> 02:08:35,640 AND MEREDITH MANNING I'M WITH A 2931 02:08:35,640 --> 02:08:36,440 MANUFACTURER. 2932 02:08:36,440 --> 02:08:41,280 WE HAVE A HUGE ISSUE WITH 2933 02:08:41,280 --> 02:08:43,040 CLINICAL TRIALS POST THE 2934 02:08:43,040 --> 02:08:43,280 PANDEMIC. 2935 02:08:43,280 --> 02:08:45,440 MANY EPIDEMIC CENTERS DON'T HAVE 2936 02:08:45,440 --> 02:08:49,760 THE STAFF TO RUN THE CLINICAL 2937 02:08:49,760 --> 02:08:50,240 TRIAL. 2938 02:08:50,240 --> 02:08:51,880 WE WORK WITH RARE BLOOD CANCER 2939 02:08:51,880 --> 02:08:53,360 AND IT'S TAKING SIX MONTHS TO A 2940 02:08:53,360 --> 02:08:54,680 YEAR TO GET CLINICAL TRIALS UP 2941 02:08:54,680 --> 02:08:55,880 AND RUNNING AND OUR PATIENTS 2942 02:08:55,880 --> 02:08:57,960 DON'T HAVE TIME TO WAIT THAT 2943 02:08:57,960 --> 02:08:58,240 LONG. 2944 02:08:58,240 --> 02:09:00,440 I DON'T KNOW IF THERE ARE ANY 2945 02:09:00,440 --> 02:09:02,440 ADDITIONAL RESOURCES BUT IT 2946 02:09:02,440 --> 02:09:03,960 SEEMS LIKE THERE'S A LOT OF NEED 2947 02:09:03,960 --> 02:09:07,720 TO HELP RECRUIT PEOPLE TO GO RUN 2948 02:09:07,720 --> 02:09:09,640 THE CLINICAL TRIALS AND HELP 2949 02:09:09,640 --> 02:09:10,760 THEM GET UP AND RUNNING AND 2950 02:09:10,760 --> 02:09:11,440 TRAINED. 2951 02:09:11,440 --> 02:09:13,000 DON'T KNOW IF THERE'S ANY 2952 02:09:13,000 --> 02:09:16,080 INITIATIVES BUT I THINK IT'S A 2953 02:09:16,080 --> 02:09:18,680 HUGE ISSUE THAT WE HAVE ACROSS 2954 02:09:18,680 --> 02:09:19,240 MANY THERAPEUTIC AREAS AND 2955 02:09:19,240 --> 02:09:19,600 DISEASE STATES. 2956 02:09:19,600 --> 02:09:29,760 THANK YOU. 2957 02:09:34,520 --> 02:09:37,360 >> WOULD YOU MENTION THE WISH 2958 02:09:37,360 --> 02:09:39,440 LIST THE CHILDREN'S INN HAS ON 2959 02:09:39,440 --> 02:09:40,280 AMAZON.com, PLEASE. 2960 02:09:40,280 --> 02:09:40,880 >> THANK YOU. 2961 02:09:40,880 --> 02:09:43,640 WE DO OPERATE A WISH LIST. 2962 02:09:43,640 --> 02:09:46,240 I CAN SEND THE LINK TO THE STAFF 2963 02:09:46,240 --> 02:09:49,520 HERE OR YOU CAN GO TO OUR 2964 02:09:49,520 --> 02:09:51,360 WEBSITE AND I THINK IT'S GETTING 2965 02:09:51,360 --> 02:09:52,480 INVOLVED IS THE TAB AND YOU 2966 02:09:52,480 --> 02:09:54,600 CLICK ON THAT AND YOU'LL SEE 2967 02:09:54,600 --> 02:09:55,120 WISH LIST. 2968 02:09:55,120 --> 02:09:58,320 WE DEFINITELY KEEP IT UPDATED 2969 02:09:58,320 --> 02:10:00,040 BECAUSE WE HAVE VERY OPINIONATED 2970 02:10:00,040 --> 02:10:01,600 TEENS AND YOUNG ADULTS. 2971 02:10:01,600 --> 02:10:02,840 THEY KNOW WHAT THEY WANT. 2972 02:10:02,840 --> 02:10:04,240 IF YOU'D LIKE TO SUPPORT THE INN 2973 02:10:04,240 --> 02:10:05,480 YOU CAN DO THAT AND YOU CAN ALSO 2974 02:10:05,480 --> 02:10:09,800 CALL US. 2975 02:10:09,800 --> 02:10:10,760 ANY OTHER QUESTIONS ABOUT THIS 2976 02:10:10,760 --> 02:10:13,640 WONDERFUL PLACE? 2977 02:10:13,640 --> 02:10:16,440 OKAY. 2978 02:10:16,440 --> 02:10:23,080 THANK YOU, EVERYONE. 2979 02:10:23,080 --> 02:10:24,360 >> THANKS EVERYONE. 2980 02:10:24,360 --> 02:10:27,240 WE MADE IT TO OUR FIRST BREAK. 2981 02:10:27,240 --> 02:10:29,120 WE WANT TO THANK ALL THE SPEAKER 2982 02:10:29,120 --> 02:10:31,040 WE HEARD FROM THIS MORNING. 2983 02:10:31,040 --> 02:10:33,120 PLEASE BE BACK FROM THE BREAK AT 2984 02:10:33,120 --> 02:10:36,760 11:40. 2985 02:10:36,760 --> 02:10:39,400 >> IT IS PAST 11:40 SO WE'RE 2986 02:10:39,400 --> 02:10:42,840 GOING TO MOVED AHEAD IS NEXT IS 2987 02:10:42,840 --> 02:10:45,040 SESSION 2, MEETING THE NEEDS AND 2988 02:10:45,040 --> 02:10:47,280 ADOLESCENTS OF YOUNG ADULT AND 2989 02:10:47,280 --> 02:10:49,480 YOU'LL HEAR THE ACRONYM AYA. 2990 02:10:49,480 --> 02:10:54,080 THE MODERATOR IS ABBEY SANDLER 2991 02:10:54,080 --> 02:10:56,480 OF THE MY PEDIATRIC AND ADULT 2992 02:10:56,480 --> 02:11:00,680 RARE TUMOR NETWORK AND SITS 2993 02:11:00,680 --> 02:11:02,200 WITHIN THE INTRAMURAL BRANCH AT 2994 02:11:02,200 --> 02:11:02,840 THE NATIONAL CANCER INSTITUTE 2995 02:11:02,840 --> 02:11:03,760 WITH NIH. 2996 02:11:03,760 --> 02:11:13,880 WELCOME. 2997 02:11:20,600 --> 02:11:22,200 >> GOOD MORNING I'D LIKE TO ECHO 2998 02:11:22,200 --> 02:11:24,280 THE SENTIMENTS OF MANY SPEAKERS 2999 02:11:24,280 --> 02:11:29,280 BEFORE AND HOW GREAT TO BE BACK 3000 02:11:29,280 --> 02:11:31,480 IN PERSON AND HAVING SO MANY 3001 02:11:31,480 --> 02:11:32,920 PEOPLE PARTICIPATE ONLINE AS 3002 02:11:32,920 --> 02:11:33,520 WELL. 3003 02:11:33,520 --> 02:11:36,520 WELCOME TO THE SECOND SESSION OF 3004 02:11:36,520 --> 02:11:36,960 RARE DISEASE DAY. 3005 02:11:36,960 --> 02:11:39,640 I WANT TO THANK THE ORGANIZERS 3006 02:11:39,640 --> 02:11:43,520 FOR ALLOWING US TO HOLD THIS 3007 02:11:43,520 --> 02:11:51,640 SESSION ON AYAs, ADOLESCENT AND 3008 02:11:51,640 --> 02:11:52,360 AYOUNG ADULT. 3009 02:11:52,360 --> 02:11:54,000 I HAVE THE PRIVILEGE AND 3010 02:11:54,000 --> 02:11:58,240 OPPORTUNITY TO WORK WITH BOTH 3011 02:11:58,240 --> 02:12:01,320 RESEARCHERS AND ADVOCACY 3012 02:12:01,320 --> 02:12:02,000 ORGANIZATIONS TOWARD OUR SHARED 3013 02:12:02,000 --> 02:12:03,320 GOALS OF IMPROVING THE 3014 02:12:03,320 --> 02:12:05,600 EXPERIENCE FOR THOSE FACING RARE 3015 02:12:05,600 --> 02:12:07,640 CANCERS. 3016 02:12:07,640 --> 02:12:11,080 I'M ALSO TO BE PROUD AS MY ROLE 3017 02:12:11,080 --> 02:12:15,600 OF A MOTHER OF A CHILD THAT GOT 3018 02:12:15,600 --> 02:12:18,400 DIAGNOSED WITH A RARE CANCER AND 3019 02:12:18,400 --> 02:12:20,480 JUST FINISHED TREATMENT. 3020 02:12:20,480 --> 02:12:23,840 AYAs WITH CANCER ARE A SPECIAL 3021 02:12:23,840 --> 02:12:26,000 POPULATION WITH UNIQUE NEEDS. 3022 02:12:26,000 --> 02:12:31,680 I HOPE YOU'LL SEE MANY OF THOSE 3023 02:12:31,680 --> 02:12:42,200 UNIQUE NEEDS OUR PANELISTS WILL 3024 02:12:43,320 --> 02:12:44,560 TELL YOU ABOUT PROGRAMS OR 3025 02:12:44,560 --> 02:12:47,000 RESOURCES THEY CREATED FOR AYAs. 3026 02:12:47,000 --> 02:12:49,360 AFTER THE SHORT TALKS WE'LL HAVE 3027 02:12:49,360 --> 02:12:51,920 A SHORT DISCUSSION AND HAVE TIME 3028 02:12:51,920 --> 02:12:53,800 FOR A FEW QUESTIONS FROM THE 3029 02:12:53,800 --> 02:12:54,200 AUDIENCE. 3030 02:12:54,200 --> 02:12:56,480 THE FIRST SPEAKER FOR THE 3031 02:12:56,480 --> 02:13:01,840 MORNING SPEAKER IS HILARY GAN 3032 02:13:01,840 --> 02:13:02,600 FOR TEEN CANCER AMERICA. 3033 02:13:02,600 --> 02:13:06,080 SHE'S JOINING US REMOTELY SO 3034 02:13:06,080 --> 02:13:08,880 THROUGH THE MAGIC OF AV THEY'LL 3035 02:13:08,880 --> 02:13:11,680 BRING HER UP AND I'LL TURN IT 3036 02:13:11,680 --> 02:13:15,240 OVER FOR HER REMARKS. 3037 02:13:15,240 --> 02:13:16,720 >> THANKS, ABBEY. 3038 02:13:16,720 --> 02:13:18,080 HELLO, EVERYBODY. 3039 02:13:18,080 --> 02:13:20,720 IT'S A PLEASURE TO BE HERE WITH 3040 02:13:20,720 --> 02:13:21,040 YOU. 3041 02:13:21,040 --> 02:13:23,000 I WISH I WOULD I WAS THERE IN 3042 02:13:23,000 --> 02:13:24,520 PERSON BUT I'M NOT HERE. 3043 02:13:24,520 --> 02:13:30,120 I'M HERE IN LOS ANGELES, 3044 02:13:30,120 --> 02:13:30,440 CALIFORNIA. 3045 02:13:30,440 --> 02:13:35,640 SO THIS MORNING I WANTED TO 3046 02:13:35,640 --> 02:13:37,840 SHARE A LITTLE BIT WITH THE 3047 02:13:37,840 --> 02:13:38,560 ADOLESCENT AND YOUNG ADULT 3048 02:13:38,560 --> 02:13:39,640 POPULATION COMMONLY REFERRED TO 3049 02:13:39,640 --> 02:13:43,080 AS AYA AND THE CHALLENGES THAT 3050 02:13:43,080 --> 02:13:45,560 FACE YOUNG PEOPLE GOING THROUGH 3051 02:13:45,560 --> 02:13:46,120 TREATMENT. 3052 02:13:46,120 --> 02:13:47,640 I'LL ALSO BRIEFLY TOUCH ON HOW 3053 02:13:47,640 --> 02:13:48,480 HEALTH CARE SYSTEMS CAN CHANGE 3054 02:13:48,480 --> 02:13:50,800 TO BETTER MEET THE NEEDS OF THIS 3055 02:13:50,800 --> 02:13:53,360 GROUP AND HOW TEEN CANCER 3056 02:13:53,360 --> 02:13:54,440 AMERICA HELPS HOSPITALS DO THAT. 3057 02:13:54,440 --> 02:13:59,640 >> APOLOGIES, HILARY, CAN YOU 3058 02:13:59,640 --> 02:14:10,080 START YOUR VIDEO, PLEASE. 3059 02:14:10,480 --> 02:14:11,640 AND YOU'RE MUTED. 3060 02:14:11,640 --> 02:14:18,120 >> ALL RIGHT. 3061 02:14:18,120 --> 02:14:18,320 HELLO. 3062 02:14:18,320 --> 02:14:19,560 IT'S A PLEASURE TO BE HERE WITH 3063 02:14:19,560 --> 02:14:19,720 YOU. 3064 02:14:19,720 --> 02:14:21,520 TODAY I WANTED TO SHARE WITH YOU 3065 02:14:21,520 --> 02:14:24,960 ABOUT THE ADOLESCENT AND YOUNG 3066 02:14:24,960 --> 02:14:27,440 ADULT CANCER POPULATION COMMONLY 3067 02:14:27,440 --> 02:14:30,360 REFERRED TO AS ABBEY SAID AS AYA 3068 02:14:30,360 --> 02:14:31,680 AND THE CHALLENGES THEY FACE AS 3069 02:14:31,680 --> 02:14:34,400 YOUNG PEOPLE GOING THROUGH 3070 02:14:34,400 --> 02:14:34,680 TREATMENT. 3071 02:14:34,680 --> 02:14:37,960 I'M ALSO GOING TO BRIEFLY TOUCH 3072 02:14:37,960 --> 02:14:39,640 UPON HOW HEALTH SYSTEMS CAN 3073 02:14:39,640 --> 02:14:42,640 CHANGE TO BETTER MEET THE NEEDS 3074 02:14:42,640 --> 02:14:45,120 OF THIS GROUP AND HOW CANCER 3075 02:14:45,120 --> 02:14:45,880 AMERICA WORKS WITH THE 3076 02:14:45,880 --> 02:14:47,080 POPULATION AND MY FOCUS WILL BE 3077 02:14:47,080 --> 02:14:48,880 ON YOUNG PEOPLE WITH CANCER I 3078 02:14:48,880 --> 02:14:50,480 KNOW SOME CHALLENGES I MENTION 3079 02:14:50,480 --> 02:14:52,520 WILL RESONATE WITH THOSE WHO 3080 02:14:52,520 --> 02:14:54,400 DON'T HAVE CANCER BUT OTHER RARE 3081 02:14:54,400 --> 02:14:54,720 DISEASES. 3082 02:14:54,720 --> 02:14:57,480 SO PERHAPS THINK OF THIS AS A 3083 02:14:57,480 --> 02:15:01,120 MODEL FOR WHAT ALL YOUNG PEOPLE 3084 02:15:01,120 --> 02:15:01,920 DESERVE FROM THE HEALTH CARE 3085 02:15:01,920 --> 02:15:02,160 SYSTEM. 3086 02:15:02,160 --> 02:15:05,360 SO WHO ARE AYA CANCER PATIENTS 3087 02:15:05,360 --> 02:15:09,000 AND WHY ARE THEY UNIQUE? 3088 02:15:09,000 --> 02:15:12,440 AYA CANCER PATIENT IS DIAGNOSED 3089 02:15:12,440 --> 02:15:15,160 BETWEEN 15 AND 39 YEARS OLD. 3090 02:15:15,160 --> 02:15:17,680 THERE'S ALMOST 90,000 NEW 3091 02:15:17,680 --> 02:15:20,480 DIAGNOSES OF AYA PER YEAR. 3092 02:15:20,480 --> 02:15:22,280 UP UNTIL THE PAST YEARS THIS AGE 3093 02:15:22,280 --> 02:15:24,840 GROUP HAD NOT SEEN IN 3094 02:15:24,840 --> 02:15:26,720 IMPROVEMENT IN THEIR SURVIVAL AS 3095 02:15:26,720 --> 02:15:28,360 OLDER AND YOUNGER PATIENTS IN 3096 02:15:28,360 --> 02:15:29,440 ALMOST 30 YEARS. 3097 02:15:29,440 --> 02:15:31,000 LUCKILY THAT IS CHANGING. 3098 02:15:31,000 --> 02:15:36,960 CURRENTLY, AYAs DON'T FIT IN THE 3099 02:15:36,960 --> 02:15:39,440 HEALTH SYSTEM AS IT EXISTS AND 3100 02:15:39,440 --> 02:15:40,960 IT'S BROKEN DOWN TO TWO MAIN 3101 02:15:40,960 --> 02:15:43,320 GROUPS, CHILDREN AND YOUNG 3102 02:15:43,320 --> 02:15:43,560 ADULTS. 3103 02:15:43,560 --> 02:15:46,320 AYAs ARE IN THE STATE OF 3104 02:15:46,320 --> 02:15:49,440 TRANSITION AND CHANGE AND MOVING 3105 02:15:49,440 --> 02:15:51,680 FROM ADULTHOOD TO CHILDHOOD. 3106 02:15:51,680 --> 02:15:54,000 WHEN DIAGNOSED WITH CANCER THE 3107 02:15:54,000 --> 02:15:55,560 ATTENTION IS SHIFT FROM MORE 3108 02:15:55,560 --> 02:15:58,040 TYPICAL THOUGHTS LIKE WHERE WILL 3109 02:15:58,040 --> 02:16:00,080 I GO TO COLLEGE OR WHAT AM I 3110 02:16:00,080 --> 02:16:01,200 DOING FOR HIGH SCHOOL 3111 02:16:01,200 --> 02:16:03,320 GRADUATION, CAREER, FRIENDSHIPS 3112 02:16:03,320 --> 02:16:04,760 AND ROMANTIC RELATIONSHIPS AND 3113 02:16:04,760 --> 02:16:08,240 FORCED TO THINK ABOUT THINGS 3114 02:16:08,240 --> 02:16:08,880 LIKE TREATMENT AND MORTALITY AND 3115 02:16:08,880 --> 02:16:12,720 SURVIVAL. 3116 02:16:12,720 --> 02:16:15,200 70% OF THE AYA POPULATION DON'T 3117 02:16:15,200 --> 02:16:19,040 GO TO LARGE ACADEMIC HOSPITALS 3118 02:16:19,040 --> 02:16:19,320 INITIALLY. 3119 02:16:19,320 --> 02:16:25,280 MORE ON OFTEN THEY DO TO 3120 02:16:25,280 --> 02:16:26,320 COMMUNITY HOSPITALS BECAUSE 3121 02:16:26,320 --> 02:16:28,400 ACCESS TO HEALTH CARE IS OFTEN 3122 02:16:28,400 --> 02:16:29,360 INSURANCE DRIVEN SO PEOPLE CAN'T 3123 02:16:29,360 --> 02:16:30,720 ALWAYS PICK WHERE THEY'RE 3124 02:16:30,720 --> 02:16:31,680 TREATED AND SOMETIMES CAN'T EVEN 3125 02:16:31,680 --> 02:16:33,520 DECIDE WHAT SERVICES THEY HAVE 3126 02:16:33,520 --> 02:16:35,720 ACCESS TO. 3127 02:16:35,720 --> 02:16:37,760 OR CAN AFFORCE. 3128 02:16:37,760 --> 02:16:41,680 IN THE U.S., PEOPLE LOSE ACCESS 3129 02:16:41,680 --> 02:16:42,720 TO THEIR PARENTS' HEALTH 3130 02:16:42,720 --> 02:16:44,400 INSURANCE AT 26 YEARS OLD AND 3131 02:16:44,400 --> 02:16:45,720 HAVE TO START OVER. 3132 02:16:45,720 --> 02:16:48,200 FOR MANY WHO HAVE GONE THROUGH 3133 02:16:48,200 --> 02:16:49,480 TREATMENT, LONG-TERM SIDE 3134 02:16:49,480 --> 02:16:52,560 EFFECTS CAN IMPACT THEIR 3135 02:16:52,560 --> 02:16:54,320 PHYSICAL, SOCIAL AND EMOTIONAL 3136 02:16:54,320 --> 02:16:56,160 WELL BEING. 3137 02:16:56,160 --> 02:16:58,360 DISPARITIES IN HEALTH CARE SUCH 3138 02:16:58,360 --> 02:17:02,520 AS PROXIMITY TO A HOSPITAL, 3139 02:17:02,520 --> 02:17:04,160 RACIAL, SOCIO ECONOMIC STATUS 3140 02:17:04,160 --> 02:17:05,840 AND NEED FOR FERTILITY CARE, 3141 02:17:05,840 --> 02:17:06,920 GENDER IDENTITY, LIMITED ACCESS 3142 02:17:06,920 --> 02:17:09,120 TO CLINICAL TRIALS AND SO MUCH 3143 02:17:09,120 --> 02:17:11,640 MORE INCREASE THE CHALLENGES 3144 02:17:11,640 --> 02:17:13,040 FACED BY YOUNG PEOPLE AND EVEN 3145 02:17:13,040 --> 02:17:18,000 IMPACT THEIR OUTCOMES. 3146 02:17:18,000 --> 02:17:23,320 TO ENSURE ALL AYAs ARE GETTING 3147 02:17:23,320 --> 02:17:25,960 WHAT IS NEEDED, THERE ARE EIGHT 3148 02:17:25,960 --> 02:17:31,680 PILLARS OF AYA CANCER CARE WE 3149 02:17:31,680 --> 02:17:32,200 LIKE TO SEE ALL PROGRAMS 3150 02:17:32,200 --> 02:17:35,000 CONSIDER. 3151 02:17:35,000 --> 02:17:35,640 AGE-APPROPRIATE CLINICAL CARE 3152 02:17:35,640 --> 02:17:36,680 AND ENVIRONMENT, CLINICAL TRIALS 3153 02:17:36,680 --> 02:17:39,000 IN RESEARCH, FERTILITY 3154 02:17:39,000 --> 02:17:41,320 COUNSELLING, PRESERVATION, 3155 02:17:41,320 --> 02:17:43,640 SEXUAL HEALTH, HEALTH INSURANCE, 3156 02:17:43,640 --> 02:17:46,440 FINANCIAL COUNSELLING, EDUCATION 3157 02:17:46,440 --> 02:17:48,920 AND OCCUPATIONAL SUPPORT, 3158 02:17:48,920 --> 02:17:51,200 PSYCHOSOCIAL SUPPORT, 3159 02:17:51,200 --> 02:17:53,320 SURVIVORSHIP, TRANSITIONAL CARE 3160 02:17:53,320 --> 02:17:55,880 AND PALLIATIVE AND END OF LIFE 3161 02:17:55,880 --> 02:17:56,960 CARE. 3162 02:17:56,960 --> 02:17:59,640 TO BETTER SERVE THIS POPULATION, 3163 02:17:59,640 --> 02:18:02,440 TEEN CANCER AMERICA IS HELPING 3164 02:18:02,440 --> 02:18:03,160 HOSPITALS CREATE SPECIALIZED 3165 02:18:03,160 --> 02:18:06,680 PROGRAMS JUST FOR THE AYA CANCER 3166 02:18:06,680 --> 02:18:07,000 POPULATION. 3167 02:18:07,000 --> 02:18:09,280 AND AS YOU CAN SEE FROM THE 3168 02:18:09,280 --> 02:18:11,840 SLIDE, TCA HAS CREATED A PATHWAY 3169 02:18:11,840 --> 02:18:14,520 FOR PATIENTS AS THEY ENTER 3170 02:18:14,520 --> 02:18:15,480 THEIAC SYSTEM. 3171 02:18:15,480 --> 02:18:17,320 -- THE HEALTH CARE SYSTEM TO 3172 02:18:17,320 --> 02:18:19,960 ENSURE AYAs HAVE EQUITABLE 3173 02:18:19,960 --> 02:18:24,840 ACCESS TO CANCER CARE NO MATTER 3174 02:18:24,840 --> 02:18:26,440 KIND OF HOSPITAL YOU'RE TREATED 3175 02:18:26,440 --> 02:18:28,600 AT AND WHAT DOOR YOU ENTER, 3176 02:18:28,600 --> 02:18:31,040 PEDIATRIC OR ADULT SIDE. 3177 02:18:31,040 --> 02:18:34,840 TCA WANTS TO SEE THAT ALL THE 3178 02:18:34,840 --> 02:18:36,840 PILLARS LISTED FROM THE PREVIOUS 3179 02:18:36,840 --> 02:18:38,520 SLIDE ARE REGULARLY ADDRESSED 3180 02:18:38,520 --> 02:18:39,200 THROUGHOUT TREATMENT. 3181 02:18:39,200 --> 02:18:42,400 AND TCA IS WORKING TO HELP BUILD 3182 02:18:42,400 --> 02:18:46,480 COMMUNICATION BETWEEN PEDIATRIC 3183 02:18:46,480 --> 02:18:48,840 AND ADULT TEAMS TO ENSURE THE 3184 02:18:48,840 --> 02:18:52,760 SHARING OF KNOWLEDGE AND 3185 02:18:52,760 --> 02:18:54,560 EXPERTISE IS ROBUST. 3186 02:18:54,560 --> 02:18:56,560 PATIENTS DON'T OFTEN KNOW WHAT 3187 02:18:56,560 --> 02:19:00,200 TO ASK NOR WHAT TO EXPECT FROM 3188 02:19:00,200 --> 02:19:01,400 THEIR CANCER EXPERIENCE. 3189 02:19:01,400 --> 02:19:02,720 IT'S THE HEALTH CARE 3190 02:19:02,720 --> 02:19:04,640 PROFESSIONAL'S JOB TO GUIDE THEM 3191 02:19:04,640 --> 02:19:07,320 AND BE HONEST AND COMMUNICATE 3192 02:19:07,320 --> 02:19:07,560 CLEARLY. 3193 02:19:07,560 --> 02:19:08,520 WE MUST PROVIDE PATIENTS WITH 3194 02:19:08,520 --> 02:19:10,480 THE EDUCATION AND SERVICES THEY 3195 02:19:10,480 --> 02:19:11,080 ALL DESERVE. 3196 02:19:11,080 --> 02:19:14,240 AS WE LIKE TO SAY AT TEEN CANCER 3197 02:19:14,240 --> 02:19:15,640 AMERICA, IT IS THE PERSON THAT 3198 02:19:15,640 --> 02:19:16,880 COMES FIRST. 3199 02:19:16,880 --> 02:19:20,040 AND THE DISEASE THAT COMES 3200 02:19:20,040 --> 02:19:22,720 SECOND. 3201 02:19:22,720 --> 02:19:25,480 PLEASE KNOW THAT CHANGE IS HARD 3202 02:19:25,480 --> 02:19:26,960 AND SLOW PARTICULARLY IN A 3203 02:19:26,960 --> 02:19:29,640 HEALTH CARE SYSTEM. 3204 02:19:29,640 --> 02:19:31,640 AND HOSPITALS CAN'T DO 3205 02:19:31,640 --> 02:19:34,280 EVERYTHING WHICH IS OKAY. 3206 02:19:34,280 --> 02:19:36,440 BECAUSE THERE ARE MANY GREAT 3207 02:19:36,440 --> 02:19:38,520 REGIONAL AND NATIONAL 3208 02:19:38,520 --> 02:19:39,640 ORGANIZATIONS OUT THERE TO 3209 02:19:39,640 --> 02:19:43,800 PROVIDE ADDITIONAL RESOURCES. 3210 02:19:43,800 --> 02:19:53,960 THANK YOU. 3211 02:19:57,200 --> 02:19:58,960 >> THANK YOU, HILARY FOR YOUR 3212 02:19:58,960 --> 02:19:59,280 COMMENTS. 3213 02:19:59,280 --> 02:20:03,640 OUR NEXT SPEAKER IS GOING TO BE 3214 02:20:03,640 --> 02:20:07,600 ALISON SILBERMAN FROM STUPID 3215 02:20:07,600 --> 02:20:07,840 CANCER. 3216 02:20:07,840 --> 02:20:18,000 WELCOME. 3217 02:20:18,440 --> 02:20:20,920 >> GOOD MORNING. 3218 02:20:20,920 --> 02:20:24,680 I'M ALISON SILBERMAN THE CEO OF 3219 02:20:24,680 --> 02:20:25,400 STUPID CANCER. 3220 02:20:25,400 --> 02:20:27,640 I WANT TO THANK NIH FOR HAVING 3221 02:20:27,640 --> 02:20:30,520 US HERE AND FOCUSSING ON THE 3222 02:20:30,520 --> 02:20:31,680 UNDER SERVED AND INCREDIBLE 3223 02:20:31,680 --> 02:20:33,720 COMMUNITY OF AYAs. 3224 02:20:33,720 --> 02:20:36,520 STUPID CANCER IS A NATIONAL 3225 02:20:36,520 --> 02:20:38,560 NONPROFIT WHO IS MISSION IS TO 3226 02:20:38,560 --> 02:20:39,480 HELP EVERYONE BY ENDING 3227 02:20:39,480 --> 02:20:40,160 ISOLATION AND BUILDING 3228 02:20:40,160 --> 02:20:42,080 COMMUNITY. 3229 02:20:42,080 --> 02:20:44,840 WE WERE FOUNDED IN 2007 BY AN 3230 02:20:44,840 --> 02:20:46,640 AYA BRAIN CANCER SURVIVOR. 3231 02:20:46,640 --> 02:20:49,440 AT THE AGE OF 21 WHILE MATT WAS 3232 02:20:49,440 --> 02:20:50,520 GOING THROUGH HIS TREATMENT HE 3233 02:20:50,520 --> 02:20:53,680 NOTICED THAT THERE WERE NO 3234 02:20:53,680 --> 02:20:54,960 PROGRAMS FOR AYAs. 3235 02:20:54,960 --> 02:20:59,280 HE LIKE MANY AYAs FELL INTO THIS 3236 02:20:59,280 --> 02:20:59,760 PURGATORY. 3237 02:20:59,760 --> 02:21:02,840 A SPACE WHERE HE WASN'T AN ADULT 3238 02:21:02,840 --> 02:21:04,560 OR PEDIATRIC AND LEFT IN THE 3239 02:21:04,560 --> 02:21:06,240 MIDDLE NOT FITTING IN. 3240 02:21:06,240 --> 02:21:11,440 THE SYSTEM FAILED TO UNE 3241 02:21:11,440 --> 02:21:15,400 RECOGNIZE THIS STAGE OF LIFE AND 3242 02:21:15,400 --> 02:21:18,200 STUPID CANCER STARTED AS A 3243 02:21:18,200 --> 02:21:19,640 YOUTUBE SHOW AND PODCAST 3244 02:21:19,640 --> 02:21:22,800 BRINGING TOGETHER THE VOICES OF 3245 02:21:22,800 --> 02:21:24,040 INNOVATORS IN THE HEALTH CARE 3246 02:21:24,040 --> 02:21:25,320 SPACE, PHARMA PROVIDERS, 3247 02:21:25,320 --> 02:21:26,800 PATIENTS AND ELEVATING THE VOICE 3248 02:21:26,800 --> 02:21:29,080 OF THIS UNDER SERVED POPULATION. 3249 02:21:29,080 --> 02:21:31,200 OVER THE PAST 15 YEARS WE'VE 3250 02:21:31,200 --> 02:21:34,880 GROWN THROUGH OUR AWARD-WINNING 3251 02:21:34,880 --> 02:21:35,640 AND EVIDENCE-BASED PROGRAMS TO 3252 02:21:35,640 --> 02:21:43,640 CHANGE THE LANDSCAPE OF AYA 3253 02:21:43,640 --> 02:21:44,560 CARE. 3254 02:21:44,560 --> 02:21:46,240 STUPID CANCER FOL THE DEFINITION 3255 02:21:46,240 --> 02:21:49,040 OF AYAs 15 TO 39-YEAR-OLDS AND 3256 02:21:49,040 --> 02:21:51,640 OF THE NEARLY 90,000 PATIENTS 3257 02:21:51,640 --> 02:21:53,440 DIAGNOSED EVERY YEAR ADD THOSE 3258 02:21:53,440 --> 02:21:56,560 LIVING WITH METASTATIC DISEASE, 3259 02:21:56,560 --> 02:21:58,280 THOSE LIVING INTO SURVIVORSHIP 3260 02:21:58,280 --> 02:21:59,200 AND MULTIPLY THAT BY THE FRIENDS 3261 02:21:59,200 --> 02:22:00,680 AND FAMILIES PART OF THEIR LIVES 3262 02:22:00,680 --> 02:22:01,600 TAKING CARE OF THEM. 3263 02:22:01,600 --> 02:22:02,560 WE'RE TALKING ABOUT MILLIONS OF 3264 02:22:02,560 --> 02:22:06,720 PEOPLE. 3265 02:22:06,720 --> 02:22:07,560 SIMILARLY TO THE RARE DISEASE 3266 02:22:07,560 --> 02:22:08,560 DISEASE IT ISN'T JUST ABOUT THE 3267 02:22:08,560 --> 02:22:19,120 PATIENT BUT EVERYBODY INVOLVED. 3268 02:22:22,160 --> 02:22:23,800 WHEN WE TALK ABOUT PATIENTS WITH 3269 02:22:23,800 --> 02:22:25,040 RARE DISEASE WE'RE TALKING ABOUT 3270 02:22:25,040 --> 02:22:31,520 THE SAME THING WITH AYAs AND 3271 02:22:31,520 --> 02:22:32,560 DON'T SEE THEMSELVES IN 3272 02:22:32,560 --> 02:22:36,400 MARKETING OR IN THE WAITING 3273 02:22:36,400 --> 02:22:36,600 ROOMS. 3274 02:22:36,600 --> 02:22:38,560 THEY NEED A.J. SPECIFIC TARGETED 3275 02:22:38,560 --> 02:22:42,840 SUPPORT TO ADDRESS THEIR UNIQUE 3276 02:22:42,840 --> 02:22:43,480 CHALLENGES. 3277 02:22:43,480 --> 02:22:44,080 THE LIST HILARY HAD UP ON THE 3278 02:22:44,080 --> 02:22:54,200 SCREEN. 3279 02:22:57,640 --> 02:22:59,040 I WANT TO ADDRESS THE NEED. 3280 02:22:59,040 --> 02:23:02,040 MANY FEEL LOST WHEN OUT OF THE 3281 02:23:02,040 --> 02:23:04,080 CARE OF THEIR ONCOLOGIST AND 3282 02:23:04,080 --> 02:23:06,080 DEAL WITH ANXIETY OR FALLOUT 3283 02:23:06,080 --> 02:23:07,440 FROM TREATMENT WHETHER IT'S 3284 02:23:07,440 --> 02:23:09,280 MENTAL HEALTH ISSUES, FINANCES 3285 02:23:09,280 --> 02:23:11,640 OR GETTING BACK IN THEIR CAREERS 3286 02:23:11,640 --> 02:23:21,880 AND EDUCATION. 3287 02:23:23,960 --> 02:23:25,920 IT'S IMPORTANT TO INCLUDE THESE 3288 02:23:25,920 --> 02:23:27,320 CAREGIVERS AND FRIENDS. 3289 02:23:27,320 --> 02:23:29,840 STRONG SUPPORT NETWORK EQUALS 3290 02:23:29,840 --> 02:23:30,080 SUCCESS. 3291 02:23:30,080 --> 02:23:30,720 THAT MEANS CARING FOR EVERYBODY 3292 02:23:30,720 --> 02:23:32,440 INVOLVED. 3293 02:23:32,440 --> 02:23:35,640 SO STUPID CANCER HAS A VERY 3294 02:23:35,640 --> 02:23:37,040 DIVERSE COMMUNITY. 3295 02:23:37,040 --> 02:23:38,680 WE ARE 65% AYAs. 3296 02:23:38,680 --> 02:23:41,920 WE ALSO ARE CAREGIVERS AND 3297 02:23:41,920 --> 02:23:47,680 PROVIDERS AND LOVED ONE AND 70% 3298 02:23:47,680 --> 02:23:51,680 LGBTQ AND BIPOC AND SLOWLY 3299 02:23:51,680 --> 02:23:53,160 REACHING THE UNDER SERVED. 3300 02:23:53,160 --> 02:23:55,160 WE'RE REACHING COMMUNITY MEMBERS 3301 02:23:55,160 --> 02:23:56,360 THROUGH SOCIAL MEDIA. 3302 02:23:56,360 --> 02:23:58,840 WE HAVE OVER 400,000 FOLLOWERS 3303 02:23:58,840 --> 02:24:00,600 ACROSS OUR PLATFORMS AND IT'S A 3304 02:24:00,600 --> 02:24:01,840 GREAT WAY TO SHARE INFORMATION 3305 02:24:01,840 --> 02:24:02,560 AND CONNECT. 3306 02:24:02,560 --> 02:24:04,960 WE HAVE ROBUST ATTENDANCE ACROSS 3307 02:24:04,960 --> 02:24:05,920 OUR PROGRAMS WHICH IS IMPORTANT 3308 02:24:05,920 --> 02:24:07,440 BECAUSE WE NEED TO GIVE THEM 3309 02:24:07,440 --> 02:24:09,720 LOTS OF DIFFERENT WAYS OF 3310 02:24:09,720 --> 02:24:10,240 INTERACTING WITH US. 3311 02:24:10,240 --> 02:24:11,800 VERY QUICKLY WE'LL SHARE SOME OF 3312 02:24:11,800 --> 02:24:13,440 THOSE PROGRAMS TO GIVE YOU AN 3313 02:24:13,440 --> 02:24:15,440 IDEA OF THE DIFFERENT WAYS WE 3314 02:24:15,440 --> 02:24:16,880 TRY AND LET PEOPLE KNOW ABOUT 3315 02:24:16,880 --> 02:24:18,960 THE RESOURCES THAT WE HAVE AND 3316 02:24:18,960 --> 02:24:19,960 THE EDUCATION THAT'S IMPORTANT 3317 02:24:19,960 --> 02:24:21,000 TO THEM. 3318 02:24:21,000 --> 02:24:24,280 OUR FIRST OF COURSE IS OUR 3319 02:24:24,280 --> 02:24:25,840 FLAGSHIP PROGRAM AND WE BRING 3320 02:24:25,840 --> 02:24:27,560 TOGETHER HUNDREDS OF MEMBERS OF 3321 02:24:27,560 --> 02:24:31,640 THE AYA COMMUNITY TO LEARN, 3322 02:24:31,640 --> 02:24:32,080 SHARE AND CONNECT. 3323 02:24:32,080 --> 02:24:33,880 OUR STUPID CANCER MEETUPS ARE A 3324 02:24:33,880 --> 02:24:35,720 SPACE FOR THE COMMUNITY CAN COME 3325 02:24:35,720 --> 02:24:37,680 TOGETHER IN A CASUAL SETTING, 3326 02:24:37,680 --> 02:24:40,520 HAVE FUN, HAVE THOSE HEAVY 3327 02:24:40,520 --> 02:24:41,400 CONVERSATIONS BUT ALSO HAVE A 3328 02:24:41,400 --> 02:24:42,240 LOT OF LAUGHS. 3329 02:24:42,240 --> 02:24:44,960 THE SUCCESS IN THE PROGRAM IS WE 3330 02:24:44,960 --> 02:24:46,640 CAN CREATE A SAFE SPACE WHERE 3331 02:24:46,640 --> 02:24:49,080 EVERYONE IS WELCOME WITH LOW 3332 02:24:49,080 --> 02:24:50,800 BARRIERS TO ENTRY. 3333 02:24:50,800 --> 02:24:52,800 THEY CAN JOIN ONLINE OR IN 3334 02:24:52,800 --> 02:24:58,160 PERSON AND HAVE TOPIC SPECIFIC 3335 02:24:58,160 --> 02:25:00,200 MEETUPS AND QUELL ANXIETY ABOUT 3336 02:25:00,200 --> 02:25:01,960 TALKING UP TO STRANGERS. 3337 02:25:01,960 --> 02:25:03,640 OUR HEALTH DISPARITY TOWN HALL 3338 02:25:03,640 --> 02:25:05,880 IS A STRATEGIC INITIATIVE WHERE 3339 02:25:05,880 --> 02:25:07,080 WE ARE DEVELOPING AN ACTION PLAN 3340 02:25:07,080 --> 02:25:10,720 TO ADDRESS THE NEEDS OF AYAs IN 3341 02:25:10,720 --> 02:25:12,520 HISTORICALLY MARGINALIZED 3342 02:25:12,520 --> 02:25:12,840 COMMUNITIES. 3343 02:25:12,840 --> 02:25:14,240 WE'VE BEEN SUCCESSFUL WITH THE 3344 02:25:14,240 --> 02:25:15,240 PROGRAM BECAUSE IT'S BEEN 3345 02:25:15,240 --> 02:25:15,640 COMMUNITY DRIVEN. 3346 02:25:15,640 --> 02:25:17,640 THE COMMUNITY HAS COME TOGETHER 3347 02:25:17,640 --> 02:25:19,920 IN WORKSHOPS AND FOCUS GROUPS TO 3348 02:25:19,920 --> 02:25:21,640 IDENTIFY PROBLEMS ACROSS 3349 02:25:21,640 --> 02:25:23,000 AUDIENCE TYPES WHETHER IT'S 3350 02:25:23,000 --> 02:25:25,040 PROVIDERS, NON-PROFIT SUPPORT, 3351 02:25:25,040 --> 02:25:27,080 OTHER PATIENT CAREGIVERS AND 3352 02:25:27,080 --> 02:25:27,640 DEVELOP THOSE CORRESPONDING 3353 02:25:27,640 --> 02:25:30,960 SOLUTIONS. 3354 02:25:30,960 --> 02:25:32,280 OUR STUPID CANCER STORIES ALLOWS 3355 02:25:32,280 --> 02:25:33,600 MEMBERS OF OUR COMMUNITY TO 3356 02:25:33,600 --> 02:25:35,760 SHARE THEIR EXPERIENCES AND 3357 02:25:35,760 --> 02:25:38,120 CONNECT THROUGH THE POWER OF 3358 02:25:38,120 --> 02:25:39,000 STORY TELLING. 3359 02:25:39,000 --> 02:25:41,320 AND YOU CAN READ ABOUT OTHERS' 3360 02:25:41,320 --> 02:25:42,000 EXPERIENCES AND CONTRIBUTE THEIR 3361 02:25:42,000 --> 02:25:47,040 OWN STORIES AND WRITING OR VIDEO 3362 02:25:47,040 --> 02:25:49,080 OR A LIVE OPEN MIC BUT ALLOWS 3363 02:25:49,080 --> 02:25:51,640 PEOPLE TO INTERACT AND ENGAGE IN 3364 02:25:51,640 --> 02:25:53,160 WAYS THAT ARE MEANINGFUL TO THEM 3365 02:25:53,160 --> 02:25:54,840 AND ALWAYS ENDS IN CONNECTION. 3366 02:25:54,840 --> 02:25:56,160 FINALLY OUR LEARN AND SHARE 3367 02:25:56,160 --> 02:25:56,680 SESSIONS. 3368 02:25:56,680 --> 02:26:01,200 THESE ARE EDUCATION-BASED 3369 02:26:01,200 --> 02:26:03,640 SESSIONS AND OUR DISCUSSIONS 3370 02:26:03,640 --> 02:26:06,000 ALLOW PARTICIPANTS TO GAIN 3371 02:26:06,000 --> 02:26:08,000 INFORMATION AND FACILITATE IN A 3372 02:26:08,000 --> 02:26:09,000 SETTING FROM EXPERTS AND OF 3373 02:26:09,000 --> 02:26:11,520 COURSE WE HAVE OUR WEBINARS THAT 3374 02:26:11,520 --> 02:26:13,560 ARE LED BY EXPERTS AND 3375 02:26:13,560 --> 02:26:15,600 EVERYTHING'S CATALOGED ON OUR 3376 02:26:15,600 --> 02:26:17,680 WEBSITE AND ALWAYS ACCESSIBLE 3377 02:26:17,680 --> 02:26:18,120 WHEN NEEDED. 3378 02:26:18,120 --> 02:26:20,200 THE SUCCESS IN THESE PROGRAMS 3379 02:26:20,200 --> 02:26:23,040 HAS BEEN WE'RE ACTIVELY TARGETED 3380 02:26:23,040 --> 02:26:23,640 MEANINGFUL INFORMATION AND 3381 02:26:23,640 --> 02:26:26,560 STAYING ON TOP OF WHAT IS MOST 3382 02:26:26,560 --> 02:26:29,560 IMPORTANT TO AYAs TODAY. 3383 02:26:29,560 --> 02:26:32,200 SO WHAT I'M HOPING TO SHARE IN 3384 02:26:32,200 --> 02:26:37,960 THIS QUICK CHAT SOMETHING I'M 3385 02:26:37,960 --> 02:26:42,000 SURE YOU ALL KNOW, IT DOESN'T 3386 02:26:42,000 --> 02:26:44,160 END ONCE YOU LEAVE THE HOSPITAL. 3387 02:26:44,160 --> 02:26:47,640 ISOLATION CAN BE CRIPPLING AND 3388 02:26:47,640 --> 02:26:53,760 AFFECT ADHERENCE TO TREATMENT OR 3389 02:26:53,760 --> 02:26:56,840 MENTAL IMPACT AND BY PROVIDING 3390 02:26:56,840 --> 02:26:57,840 AGE-SPECIFIC RESOURCE TO MEET 3391 02:26:57,840 --> 02:26:58,920 THE NEEDS OF THE PATIENT NO 3392 02:26:58,920 --> 02:27:00,480 MATTER HOW UNIQUE CAN HAVE 3393 02:27:00,480 --> 02:27:03,680 LASTING POSITIVE IMPACTS ON OUR 3394 02:27:03,680 --> 02:27:06,320 PATIENT SURVIVORSHIP. 3395 02:27:06,320 --> 02:27:07,680 WHEN WE'RE TALKING ABOUT AYAs 3396 02:27:07,680 --> 02:27:09,480 WE'RE TALKING ABOUT A LONG RUN 3397 02:27:09,480 --> 02:27:10,600 LINE. 3398 02:27:10,600 --> 02:27:12,040 I'LL LEAVE YOU WITH A FEW QUOTES 3399 02:27:12,040 --> 02:27:13,840 FROM OUR COMMUNITY THAT CAN SAY 3400 02:27:13,840 --> 02:27:15,160 BETTER THAN I CAN HOW IMPORTANT 3401 02:27:15,160 --> 02:27:16,680 IT IS TO HAVE THE CONNECTIONS 3402 02:27:16,680 --> 02:27:19,640 AND SAFE SPACES TO MEET AND 3403 02:27:19,640 --> 02:27:29,800 CONNECT. 3404 02:27:33,840 --> 02:27:35,360 >> THANKS, ALLISON. 3405 02:27:35,360 --> 02:27:38,560 OUR LAST SPEAKER FOR THIS 3406 02:27:38,560 --> 02:27:40,560 MORNING'S SESSION IS DR. WIENER 3407 02:27:40,560 --> 02:27:41,960 THE DIRECTOR OF THE PSYCHOSOCIAL 3408 02:27:41,960 --> 02:27:44,320 SUPPORT AND RESEARCH PROGRAM AND 3409 02:27:44,320 --> 02:27:47,640 CO-DIRECTOR OF THE BEHAVIORAL 3410 02:27:47,640 --> 02:27:49,160 HEALTH CORPS IN THE NATIONAL 3411 02:27:49,160 --> 02:27:51,920 CANCER INSTITUTE PEDIATRIC 3412 02:27:51,920 --> 02:27:53,720 ONCOLOGY BRANCH HERE ON THE NIA 3413 02:27:53,720 --> 02:27:54,800 CAMPUS. 3414 02:27:54,800 --> 02:27:56,000 THANK YOU FOR BEING HERE WITH US 3415 02:27:56,000 --> 02:28:06,080 TODAY. 3416 02:28:11,640 --> 02:28:17,120 I WISH I WAS HERE TALKING ABOUT 3417 02:28:17,120 --> 02:28:23,080 NEW CURE AND WE KNOW THE CURE 3418 02:28:23,080 --> 02:28:27,160 ISN'T ALWAYS POSSIBLE. 3419 02:28:27,160 --> 02:28:28,560 DISCUSSING END OF LIFE CARE IS 3420 02:28:28,560 --> 02:28:30,120 ONE OF THE MOST DIFFICULT 3421 02:28:30,120 --> 02:28:31,440 ASPECTS AND YET WE KNOW THE 3422 02:28:31,440 --> 02:28:33,400 MAJORITY OF THE FAMILIES WANT TO 3423 02:28:33,400 --> 02:28:35,640 HAVE CONVERSATIONS WITH THEIR 3424 02:28:35,640 --> 02:28:37,240 CHILDREN ABOUT PREFERENCE FOR 3425 02:28:37,240 --> 02:28:38,600 CARE AND HOW THEY WANT TO BE 3426 02:28:38,600 --> 02:28:41,280 SUPPORTED AND COMFORTED AND QUA 3427 02:28:41,280 --> 02:28:42,840 IF TREATMENT DOESN'T WORK. 3428 02:28:42,840 --> 02:28:45,240 THE ACADEMY OF PEDIATRICS AND 3429 02:28:45,240 --> 02:28:46,880 THE WORLD HEALTH ORGANIZATION, 3430 02:28:46,880 --> 02:28:47,880 THEY ALL RECOMMEND INVOLVING 3431 02:28:47,880 --> 02:28:49,760 YOUTH IN DECISIONS REGARDING 3432 02:28:49,760 --> 02:28:52,520 THEIR CARE AS THEY ARE 3433 02:28:52,520 --> 02:28:54,800 DEVELOPMENTALLY AND EMOTIONALLY 3434 02:28:54,800 --> 02:28:55,000 READY. 3435 02:28:55,000 --> 02:28:58,040 WE KNOW ADOLESCENTS AND YOUNG 3436 02:28:58,040 --> 02:28:58,800 ADULTS HAVE A LOT OF PREFERENCES 3437 02:28:58,800 --> 02:29:00,400 FOR WHAT THEY WANT AND DON'T 3438 02:29:00,400 --> 02:29:01,920 WANT AND YET THEY VIEW A LACK OF 3439 02:29:01,920 --> 02:29:02,640 INFORMATION GIVEN TO THEM AS A 3440 02:29:02,640 --> 02:29:05,480 BARRIER. 3441 02:29:05,480 --> 02:29:07,520 AND THERE ARE SO FEW RESOURCES 3442 02:29:07,520 --> 02:29:08,160 AVAILABLE TO HELP THEM AT THAT 3443 02:29:08,160 --> 02:29:15,280 AGE. 3444 02:29:15,280 --> 02:29:17,240 WITH AN ADVANCED CARE PLANNING 3445 02:29:17,240 --> 02:29:17,960 GUIDE BE HELPFUL? 3446 02:29:17,960 --> 02:29:19,200 WOULD THEY WANT THAT? 3447 02:29:19,200 --> 02:29:21,360 WE BEGAN BY LOOKING AT FOCUS 3448 02:29:21,360 --> 02:29:23,640 GROUPS AND ASKING YOUTH THAT 3449 02:29:23,640 --> 02:29:25,640 QUESTION AND ALL OF THEM THOUGHT 3450 02:29:25,640 --> 02:29:31,680 THAT WOULD BE HELPFUL AND TOOK 3451 02:29:31,680 --> 02:29:35,280 AN EXISTING DIRECTIVE CALLED 3452 02:29:35,280 --> 02:29:36,440 FIVE WISHES DEVELOPED FOR PEOPLE 3453 02:29:36,440 --> 02:29:39,040 65 AND OLDER AND EVALUATE THE 3454 02:29:39,040 --> 02:29:40,480 CONCEPTS, WOULD YOU LIKE THIS OR 3455 02:29:40,480 --> 02:29:41,120 NOT LIKE THAT. 3456 02:29:41,120 --> 02:29:43,640 WHAT WOULD YOU LIKE TO HAVE 3457 02:29:43,640 --> 02:29:44,000 INCLUDED? 3458 02:29:44,000 --> 02:29:47,640 AND THEY HAVE A LOT OF OPINIONS 3459 02:29:47,640 --> 02:29:48,800 OF WHAT SHOULD STAY AND BE 3460 02:29:48,800 --> 02:29:55,760 INCLUDE AND WE LEARNED WHAT WAS 3461 02:29:55,760 --> 02:29:56,120 MISSING. 3462 02:29:56,120 --> 02:30:02,400 AND WHAT I WANT AS MY END OF 3463 02:30:02,400 --> 02:30:05,280 LIFE IS NEAR AND THE CLOTHES I 3464 02:30:05,280 --> 02:30:08,480 WANT TO WEAR AND MY MOM WILL PUT 3465 02:30:08,480 --> 02:30:11,000 ON THE BLACK SUIT AND I WANT MY 3466 02:30:11,000 --> 02:30:13,440 BASEBALL CAP AND THE FRIENDS AND 3467 02:30:13,440 --> 02:30:15,480 FAMILY I WANT TO COME AND NOT 3468 02:30:15,480 --> 02:30:16,880 COME AND THE PEOPLE I WANT TO 3469 02:30:16,880 --> 02:30:17,680 HAVE MY BELONGS. 3470 02:30:17,680 --> 02:30:20,480 HOW I WANT TO BE REMEMBERED TO 3471 02:30:20,480 --> 02:30:23,440 KNOW MY LIFE REALLY MATTERED, ON 3472 02:30:23,440 --> 02:30:24,880 MY BIRTHDAY AND SPECIAL HOLIDAYS 3473 02:30:24,880 --> 02:30:27,360 AND A PLACE I CAN WRITE LETTERS 3474 02:30:27,360 --> 02:30:27,960 OR POEMS OR LEAVE THINGS FOR 3475 02:30:27,960 --> 02:30:29,600 PEOPLE. 3476 02:30:29,600 --> 02:30:32,320 WE TOOK WHAT WE LEARNED FROM THE 3477 02:30:32,320 --> 02:30:34,360 FOCUS GROUPS IN THAT EARLY STUDY 3478 02:30:34,360 --> 02:30:35,600 AND CREATED A NEW DOCUMENT 3479 02:30:35,600 --> 02:30:38,000 CALLED MY THOUGHTS, MY WISHES, 3480 02:30:38,000 --> 02:30:40,400 MY VOICE AND ADDRESSED THE 3481 02:30:40,400 --> 02:30:43,000 IMPORTANCE OF FAMILY AND PEER 3482 02:30:43,000 --> 02:30:44,600 RELATIONSHIPS AND INDEPENDENT 3483 02:30:44,600 --> 02:30:48,400 DECISION MAKING AND OPENED IT UP 3484 02:30:48,400 --> 02:30:50,600 TO ANOTHER SITE AND HAD PEOPLE 3485 02:30:50,600 --> 02:30:54,280 REVIEW DOCUMENTS AND GIVE US 3486 02:30:54,280 --> 02:30:54,880 INFORMATION AND WHAT THEY 3487 02:30:54,880 --> 02:30:57,680 THOUGHT IT SHOULD LOOK LIKE AND 3488 02:30:57,680 --> 02:30:58,720 OPEN-ENDED QUESTIONS, COLORS, 3489 02:30:58,720 --> 02:31:00,000 DESIGN, CHECK MARKS AND WHAT WE 3490 02:31:00,000 --> 02:31:02,280 LEARNED OVER AND OVER AGAIN IS 3491 02:31:02,280 --> 02:31:04,120 THE IMPORTANCE OF IDENTITY, 3492 02:31:04,120 --> 02:31:06,920 MEANING, SPIRITUALITY, FAMILY, 3493 02:31:06,920 --> 02:31:08,600 FRIENDS, AUTONOMY, CONTROL, 3494 02:31:08,600 --> 02:31:10,520 BEING REMEMBERED. 3495 02:31:10,520 --> 02:31:12,400 THE KEY DEVELOPMENTAL ISSUES. 3496 02:31:12,400 --> 02:31:14,120 SO AGAIN WE WENT BACK TO WHAT WE 3497 02:31:14,120 --> 02:31:15,600 HEARD FROM THE FOCUS GROUPS AND 3498 02:31:15,600 --> 02:31:17,360 WHAT WE LEARNED FROM THE 3499 02:31:17,360 --> 02:31:19,240 DIFFERENT PHASES OF STUDY AND 3500 02:31:19,240 --> 02:31:19,800 CREATED A DOCUMENT CALLED 3501 02:31:19,800 --> 02:31:22,400 VOICING MY CHOICES. 3502 02:31:22,400 --> 02:31:24,320 IT'S A PLACE WHERE THEY CAN SAY 3503 02:31:24,320 --> 02:31:26,600 WHAT MAKES YOU FEEL SUPPORTED, 3504 02:31:26,600 --> 02:31:28,360 WRITE WHAT DECISIONS BRING YOU 3505 02:31:28,360 --> 02:31:30,880 PEACE, A PLACE TO CHOOSE WHAT 3506 02:31:30,880 --> 02:31:32,600 PROVIDES YOU THE MOST COMFORT 3507 02:31:32,600 --> 02:31:34,400 AND A PLACE TO VOICE YOUR 3508 02:31:34,400 --> 02:31:36,120 THOUGHTS AND NEEDS. 3509 02:31:36,120 --> 02:31:39,520 WE SIGNED A MATERIAL TRANSFER 3510 02:31:39,520 --> 02:31:40,960 AGREEMENT AND WERE SURPRISED BY 3511 02:31:40,960 --> 02:31:48,280 HOW PEOPLE PEOPLE -- PEOPLE 3512 02:31:48,280 --> 02:31:49,800 MANY PEOPLE WANTED THIS AND 3513 02:31:49,800 --> 02:31:51,640 SHOWED UP ON THE FRONT NEWS OF 3514 02:31:51,640 --> 02:31:52,560 THE NEW YORK TIMES AND PEOPLE 3515 02:31:52,560 --> 02:31:56,240 SAID YOU MUST BE SO GLAD PEOPLE 3516 02:31:56,240 --> 02:31:58,560 WANT THIS BUT IT MADE ME 3517 02:31:58,560 --> 02:32:00,120 CONCERNED BECAUSE WE NEVER 3518 02:32:00,120 --> 02:32:02,640 STUDIED THIS THE WAY WE STUDIED 3519 02:32:02,640 --> 02:32:05,160 EARLIER ITERATIONS. 3520 02:32:05,160 --> 02:32:07,040 I DIDN'T KNOW DOES THIS HELP IN 3521 02:32:07,040 --> 02:32:08,440 COMMUNICATION WITH FAMILY 3522 02:32:08,440 --> 02:32:11,520 MEMBERS OR MEDICAL PROVIDERS OR 3523 02:32:11,520 --> 02:32:11,760 FRIENDS. 3524 02:32:11,760 --> 02:32:15,360 DOES IT INCREASE OR DECREASE 3525 02:32:15,360 --> 02:32:17,040 ANXIETY OR HELP ACCEPTANCE OF 3526 02:32:17,040 --> 02:32:18,840 ILLNESS AND WE ENTERED THE PHASE 3527 02:32:18,840 --> 02:32:22,520 OF THE STUDY TO ANSWER OR THE 3528 02:32:22,520 --> 02:32:25,240 QUESTIONS WE STARTED WITH 18 TO 3529 02:32:25,240 --> 02:32:27,280 39 WITH CANCER OR CHRONIC 3530 02:32:27,280 --> 02:32:28,880 ILLNESS AND RARE CONDITIONS AND 3531 02:32:28,880 --> 02:32:33,760 THEY COMPLETED MEASURES FOR THE 3532 02:32:33,760 --> 02:32:36,280 DIFFERENT DOMAINS AND COMPLETED 3533 02:32:36,280 --> 02:32:37,880 A MINIMUM OF THREE-PAGES ON 3534 02:32:37,880 --> 02:32:39,680 THEIR OWN AND FOLLOWED UP A 3535 02:32:39,680 --> 02:32:42,400 MONTH LATER AND SAID DID YOU 3536 02:32:42,400 --> 02:32:43,400 SHARE THIS WITH ANYONE? 3537 02:32:43,400 --> 02:32:46,080 IF THEY DID WE ASKED WHO AND 3538 02:32:46,080 --> 02:32:47,480 WHAT IT WAS LIKE FOR THEM AND IF 3539 02:32:47,480 --> 02:32:49,960 WE CAN TALK TO THAT PERSON AND 3540 02:32:49,960 --> 02:32:51,240 IF THEY DIDN'T WE ASKED WHY NOT 3541 02:32:51,240 --> 02:32:53,800 TO UNDERSTAND THE BARRIERS. 3542 02:32:53,800 --> 02:32:56,520 WE HAD SEVEN SITES INVOLVED IN 3543 02:32:56,520 --> 02:32:59,640 THIS PHASE OF THE STUDY AND HAD 3544 02:32:59,640 --> 02:33:01,040 129 PARTICIPANTS WHO REVIEWED 3545 02:33:01,040 --> 02:33:02,360 BASELINE AND FOLLOW-UP MEASURES 3546 02:33:02,360 --> 02:33:06,320 AND WHAT WE FOUND IS HALF HAD 3547 02:33:06,320 --> 02:33:07,480 NEVER HAD A CONVERSATION ABOUT 3548 02:33:07,480 --> 02:33:08,720 THEIR PREFERENCES FOR CARE IF 3549 02:33:08,720 --> 02:33:10,800 THEY BECAME ILL WITH A FAMILY 3550 02:33:10,800 --> 02:33:11,040 MEMBER. 3551 02:33:11,040 --> 02:33:13,520 A MONTH LATER, 65% OF THOSE 3552 02:33:13,520 --> 02:33:15,000 SHARED THEIR PAGES. 3553 02:33:15,000 --> 02:33:18,960 THE MAJORITY, 79% HAD NOT 3554 02:33:18,960 --> 02:33:20,440 PREVIOUSLY DISCUSSED THEIR 3555 02:33:20,440 --> 02:33:23,360 WISHES WITH THEIR HEALTH CARE 3556 02:33:23,360 --> 02:33:25,120 PROVIDER AND UNFORTUNATELY VERY 3557 02:33:25,120 --> 02:33:26,960 FEW DID A MONTH LATER. 3558 02:33:26,960 --> 02:33:28,880 TO BE FAIR, COMMENTS LIKE THIS I 3559 02:33:28,880 --> 02:33:32,280 HAVEN'T HAD AN OPPORTUNITY TO 3560 02:33:32,280 --> 02:33:35,600 HAVE THIS CONVERSATION YET. 3561 02:33:35,600 --> 02:33:37,440 MORE OFTEN WE HEARD THINGS LIKE 3562 02:33:37,440 --> 02:33:38,000 THIS. 3563 02:33:38,000 --> 02:33:39,280 I THINK THEY SHOULD RAISE IT 3564 02:33:39,280 --> 02:33:42,440 WITH ME NOT THE OTHER WAY 3565 02:33:42,440 --> 02:33:42,680 AROUND. 3566 02:33:42,680 --> 02:33:47,640 WHAT OFTEN HAPPENS IS THE 3567 02:33:47,640 --> 02:33:50,280 PROVIDER FEELS LIKE I'LL 3568 02:33:50,280 --> 02:33:53,040 INCREASE THEIR ANXIETY AND THE 3569 02:33:53,040 --> 02:33:55,160 FINDING US ANXIETY AROUND END OF 3570 02:33:55,160 --> 02:33:56,280 LIFE PLANNING DECREASED AFTER 3571 02:33:56,280 --> 02:34:00,520 REVIEWING IT AND A MONTH LATER. 3572 02:34:00,520 --> 02:34:02,640 I WAS GLAD OVER 90% OF THE 3573 02:34:02,640 --> 02:34:04,560 PEOPLE REPORT THE ITEMS WERE 3574 02:34:04,560 --> 02:34:05,520 HELPFUL BUT THEY SUGGESTED 3575 02:34:05,520 --> 02:34:07,560 SEVERAL CHANGES. 3576 02:34:07,560 --> 02:34:08,640 SO ONE OF THE CHANGES WAS 3577 02:34:08,640 --> 02:34:10,160 IMPORTANT AND WE HEARD HOW 3578 02:34:10,160 --> 02:34:11,720 IMPORTANT PAIN CONTROL IS AND 3579 02:34:11,720 --> 02:34:14,400 THEY WANT THAT UP FRONT. 3580 02:34:14,400 --> 02:34:17,040 WERE TWO ITEMS FOR THE KIND OF 3581 02:34:17,040 --> 02:34:18,720 LIFE SUPPORT THEY WANT AND DON'T 3582 02:34:18,720 --> 02:34:18,920 WANT. 3583 02:34:18,920 --> 02:34:21,080 BOTH WERE ABOUT END OF LIFE WAS 3584 02:34:21,080 --> 02:34:21,720 GOING TO BE NEAR. 3585 02:34:21,720 --> 02:34:24,520 THEY WANTED A HIERARCHY OF 3586 02:34:24,520 --> 02:34:25,920 DIFFERENT KINDS OF INTERVENTIONS 3587 02:34:25,920 --> 02:34:27,520 TO RELATE TO AND OPTION IF 3588 02:34:27,520 --> 02:34:28,360 TREATMENTS WERE AVAILABLE THAT 3589 02:34:28,360 --> 02:34:30,960 MAY CURE OR IMPROVE MY DISEASE 3590 02:34:30,960 --> 02:34:33,400 OR DISORDER WHAT THEY WOULD 3591 02:34:33,400 --> 02:34:33,640 WANT. 3592 02:34:33,640 --> 02:34:34,960 AS WELL AS IF THEY WERE 3593 02:34:34,960 --> 02:34:35,920 SERIOUSLY ILL OR WANTED 3594 02:34:35,920 --> 02:34:37,000 EVERYTHING TO BE DONE BUT 3595 02:34:37,000 --> 02:34:38,400 NOTHING WAS WORKING SAY A MONTH 3596 02:34:38,400 --> 02:34:39,480 OR TWO LATER TO HAVE A SAY AT 3597 02:34:39,480 --> 02:34:41,560 THAT POINT IN TIME. 3598 02:34:41,560 --> 02:34:44,240 THEY ALSO WANTED TO BE ABLE TO 3599 02:34:44,240 --> 02:34:46,040 KNOW THEIR WISHES WOULD BE NOT 3600 02:34:46,040 --> 02:34:49,680 ONLY HONORED BUT THEY WOULD BE 3601 02:34:49,680 --> 02:34:50,640 REMEMBERED, SOCIAL MEDIA WAS 3602 02:34:50,640 --> 02:34:52,560 VERY IMPORTANT AND PAST WORK WAS 3603 02:34:52,560 --> 02:34:55,640 IMPORTANT AND WANTED TO SAY IF I 3604 02:34:55,640 --> 02:34:56,680 PARTICIPATED INFERTILITY 3605 02:34:56,680 --> 02:35:01,880 PRESERVATION AND UNABLE TO USE 3606 02:35:01,880 --> 02:35:02,880 THE WANT AND IF THEY HAD 3607 02:35:02,880 --> 02:35:04,400 CHILDREN OF THEIR OWN AND WANTED 3608 02:35:04,400 --> 02:35:07,520 A SPECIAL PAGE FOR THAT. 3609 02:35:07,520 --> 02:35:08,120 RIGHT NOW WE'RE COMPLETING 3610 02:35:08,120 --> 02:35:09,360 ANOTHER PHASE COMPARING THE 3611 02:35:09,360 --> 02:35:11,600 ORIGINAL TO THE NEW VERSION SO 3612 02:35:11,600 --> 02:35:13,040 STAY TUNED. 3613 02:35:13,040 --> 02:35:17,120 THE NEXT FEW MONTHS THERE'LL BE 3614 02:35:17,120 --> 02:35:19,560 A NEW VERSION AVAILABLE. 3615 02:35:19,560 --> 02:35:22,480 AND WE HAVE AN APPROPRIATE 3616 02:35:22,480 --> 02:35:22,880 ADAPTATION. 3617 02:35:22,880 --> 02:35:26,000 IN BRAZIL, AUSTRALIA AND 3618 02:35:26,000 --> 02:35:26,280 BEIJING. 3619 02:35:26,280 --> 02:35:27,640 IN BRAZIL MAYBE THEY DON'T HAVE 3620 02:35:27,640 --> 02:35:29,720 A CELEBRATION OF LIFE THAT'S 3621 02:35:29,720 --> 02:35:31,520 DIFFERENT AND IN AUSTRALIA 3622 02:35:31,520 --> 02:35:32,680 THERE'S A DIFFERENT POPULATION 3623 02:35:32,680 --> 02:35:35,640 THE BLUES AND GREENS AND DRAGON 3624 02:35:35,640 --> 02:35:37,960 FLIES DIDN'T RESONATE WITH THEM 3625 02:35:37,960 --> 02:35:40,400 AND WANTED DIFFERENT COLORS AND 3626 02:35:40,400 --> 02:35:42,360 THINGS BAY BUCKET LIST AND IN 3627 02:35:42,360 --> 02:35:44,640 BEIJING YOU SEE THE BACKGROUND 3628 02:35:44,640 --> 02:35:46,920 OF THE DEER AND IN CHINESE 3629 02:35:46,920 --> 02:35:50,040 MYTHOLOGY A DEER IS A GOD, AN 3630 02:35:50,040 --> 02:35:50,440 AUSPICIOUS BEAST. 3631 02:35:50,440 --> 02:35:53,400 IN SUMMARY, ADOLESCENT AND YOUNG 3632 02:35:53,400 --> 02:35:55,640 ADULTS WITH RARE AND SERIOUS 3633 02:35:55,640 --> 02:35:56,680 CONDITIONS WANT TO DISCUSS 3634 02:35:56,680 --> 02:35:58,240 PREFERENCE FOR CARE IF THEY 3635 02:35:58,240 --> 02:36:00,480 BECOME VERY ILL AND FIND BENEFIT 3636 02:36:00,480 --> 02:36:03,000 IN DOING SO. 3637 02:36:03,000 --> 02:36:04,960 ENGAGING IN ADVANCED CARE 3638 02:36:04,960 --> 02:36:06,360 PLANNING IS SHOWN TO HAVE A 3639 02:36:06,360 --> 02:36:07,720 DECREASE IN ANXIETY SURROUNDING 3640 02:36:07,720 --> 02:36:10,480 END OF LIFE PLANNING AND THEIR 3641 02:36:10,480 --> 02:36:12,520 PREFERENCES FOR CARE, HOW THEY 3642 02:36:12,520 --> 02:36:13,560 WANT TO BE SUPPORTED IF 3643 02:36:13,560 --> 02:36:14,640 TREATMENT IS NOT WORKING. 3644 02:36:14,640 --> 02:36:16,400 AND INTERVENTIONS ARE NEEDED AND 3645 02:36:16,400 --> 02:36:19,640 EDUCATION IS NEEDED TO ENHANCE 3646 02:36:19,640 --> 02:36:21,160 PROVIDER COMFORT BECAUSE THAT'S 3647 02:36:21,160 --> 02:36:23,640 WHERE WE FALL SHORT WITH 3648 02:36:23,640 --> 02:36:27,400 INITIATING THESE VERY COURAGEOUS 3649 02:36:27,400 --> 02:36:31,640 AND IMPORTANT CONVERSATIONS. 3650 02:36:31,640 --> 02:36:37,120 THANK YOU. 3651 02:36:37,120 --> 02:36:38,680 >> THANK YOU, LORI AND THANK YOU 3652 02:36:38,680 --> 02:36:40,960 TO ALL OF OUR SPEAKERS FOR THOSE 3653 02:36:40,960 --> 02:36:42,640 POWERFUL PRESENTATIONS. 3654 02:36:42,640 --> 02:36:44,560 HILARY'S GOING TO COME BACK AND 3655 02:36:44,560 --> 02:36:47,120 JOIN US VIRTUALLY AND WE'RE 3656 02:36:47,120 --> 02:36:48,360 GOING TO HAVE A SHORT 3657 02:36:48,360 --> 02:36:48,640 DISCUSSION. 3658 02:36:48,640 --> 02:36:50,720 WE HAVE ALISON AND LORI AND 3659 02:36:50,720 --> 02:36:55,640 MYSELF UP ON STAGE. 3660 02:36:55,640 --> 02:37:06,160 WE'LL MOVE OVER TO THE CHAIRS. 3661 02:37:07,520 --> 02:37:11,920 A QUICK REMINDER FOR LORI AND 3662 02:37:11,920 --> 02:37:12,480 ALLI 3663 02:37:12,480 --> 02:37:13,480 ALLISON, YOU HAVE TO SPEAK IN 3664 02:37:13,480 --> 02:37:15,960 THE MICROPHONE TO PICK UP FOR 3665 02:37:15,960 --> 02:37:17,160 THE ONLINE AUDIENCE. 3666 02:37:17,160 --> 02:37:18,400 BEING BEING MINDFUL OF THE TIME 3667 02:37:18,400 --> 02:37:19,640 BECAUSE I WANT TO MAKE SURE WE 3668 02:37:19,640 --> 02:37:23,600 HAVE TIME SO I'LL ASK YOU TO 3669 02:37:23,600 --> 02:37:28,120 KEEP ANSWERS BRIEF OUT I'LL ASK 3670 02:37:28,120 --> 02:37:30,200 EACH OF TO YOU ADDRESS 3671 02:37:30,200 --> 02:37:32,200 CHALLENGES IN SETTING UP YOUR 3672 02:37:32,200 --> 02:37:32,480 PROGRAMS. 3673 02:37:32,480 --> 02:37:35,640 WHAT'S THE BIGGEST OBSTACLE YOU 3674 02:37:35,640 --> 02:37:37,120 DEAL WITH HOSPITALS IN SETTING 3675 02:37:37,120 --> 02:37:38,280 UP THE AYA PROGRAMS? 3676 02:37:38,280 --> 02:37:39,880 >> TRYING TO GET EVERYBODY ON 3677 02:37:39,880 --> 02:37:41,080 THE SAME PAGE. 3678 02:37:41,080 --> 02:37:43,160 MANY HOSPITALS HAVE LOTS OF 3679 02:37:43,160 --> 02:37:48,280 DIFFERENT PIECES OF THE PUZZLE 3680 02:37:48,280 --> 02:37:53,000 THAT WOULD CONSTITUTE A 3681 02:37:53,000 --> 02:37:53,560 COMPREHENSIVE AYA PROGRAM. 3682 02:37:53,560 --> 02:37:55,200 IT'S GETTING THE RIGHT PEOPLE IN 3683 02:37:55,200 --> 02:37:55,800 THE ROOM FROM REPRESENTATION 3684 02:37:55,800 --> 02:37:58,880 FROM PEDIATRIC AND ADULT 3685 02:37:58,880 --> 02:38:00,160 ONCOLOGY TO SIT TOGETHER AND 3686 02:38:00,160 --> 02:38:02,680 UNDERSTAND WHAT CURRENTLY EXISTS 3687 02:38:02,680 --> 02:38:05,240 IN THE HOSPITAL AND WHAT'S 3688 02:38:05,240 --> 02:38:11,400 NEEDED TO CREATE AN AYA PROGRAM 3689 02:38:11,400 --> 02:38:15,520 AND WORK TOGETHER TO ENSURE THAT 3690 02:38:15,520 --> 02:38:16,640 HAPPENS IN THEIR INSTITUTION. 3691 02:38:16,640 --> 02:38:18,320 >> ABOUT WHAT ABOUT YOU ALISON? 3692 02:38:18,320 --> 02:38:20,280 >> I THINK THE BIGGEST CHALLENGE 3693 02:38:20,280 --> 02:38:23,640 WE FIND IS THAT A LOT OF TIMES 3694 02:38:23,640 --> 02:38:28,600 AYAs DON'T KNOW AYA'S A THING. 3695 02:38:28,600 --> 02:38:31,280 THEY'RE OFTEN FEEL ISOLATED AND 3696 02:38:31,280 --> 02:38:32,600 ALONE LIKE THE ONLY ONE GOING 3697 02:38:32,600 --> 02:38:34,640 THROUGH WHAT THEY'RE GOING 3698 02:38:34,640 --> 02:38:35,640 THROUGH SO IT'S ABOUT GETTING 3699 02:38:35,640 --> 02:38:37,320 THE WORD OUT TO PEOPLE WHETHER 3700 02:38:37,320 --> 02:38:40,880 IT'S THE PROVIDERS OR PATIENTS 3701 02:38:40,880 --> 02:38:42,480 OR CAREGIVERS THAT THERE ARE 3702 02:38:42,480 --> 02:38:43,640 AGE-APPROPRIATE RESOURCES 3703 02:38:43,640 --> 02:38:44,440 AVAILABLE TO THEM. 3704 02:38:44,440 --> 02:38:46,400 THAT AYA IS A THING. 3705 02:38:46,400 --> 02:38:48,920 THEY'RE NOT ALONE AND ABOUT THE 3706 02:38:48,920 --> 02:38:51,280 COMMUNITY THAT'S OUT THERE. 3707 02:38:51,280 --> 02:38:52,520 WE ALWAYS SAY IT'S PROVIDING THE 3708 02:38:52,520 --> 02:38:53,160 RESOURCES YOU DIDN'T KNOW YOU 3709 02:38:53,160 --> 02:38:55,600 NEEDED. 3710 02:38:55,600 --> 02:38:58,160 >> I CAN RELATE TO THAT WITH MY 3711 02:38:58,160 --> 02:39:01,040 OWN FAMILY'S EXPERIENCE. 3712 02:39:01,040 --> 02:39:05,200 THAT RESONATES. 3713 02:39:05,200 --> 02:39:07,640 LORI, EVERYTHING YOU'RE DOING IS 3714 02:39:07,640 --> 02:39:10,160 HARD BUT WHAT HAVE YOU GONE 3715 02:39:10,160 --> 02:39:12,080 THROUGH IN DEVELOPING MY VOICES? 3716 02:39:12,080 --> 02:39:14,520 >> IN TERMS OF DEVELOP PROGRAM I 3717 02:39:14,520 --> 02:39:16,680 ECHO EVERYTHING YOU HAD SAID BUT 3718 02:39:16,680 --> 02:39:18,640 WHEN THEY'RE IN A HOSPITAL NOW 3719 02:39:18,640 --> 02:39:19,840 MOST PATIENTS HAVE THEIR OWN 3720 02:39:19,840 --> 02:39:21,320 ROOM, THE DOOR'S CLOSED AND 3721 02:39:21,320 --> 02:39:23,400 THEY'RE GETTING THEIR TREATMENT, 3722 02:39:23,400 --> 02:39:24,680 THEY MAY BE SLEEPING. 3723 02:39:24,680 --> 02:39:27,480 THEY DON'T HAVE AN OPPORTUNITY 3724 02:39:27,480 --> 02:39:28,360 TO MEET OTHER PEOPLE. 3725 02:39:28,360 --> 02:39:29,480 WHILE THEY'RE THERE WE DON'T 3726 02:39:29,480 --> 02:39:32,880 HAVE A SPACE AND HILARY KNOWS 3727 02:39:32,880 --> 02:39:33,800 I'VE BEEN WORK ON THIS MANY 3728 02:39:33,800 --> 02:39:36,840 YEARS TO HAVE A SPACE FOR AYA TO 3729 02:39:36,840 --> 02:39:38,520 BE ABLE TO GO TO BUT IT'S QUITE 3730 02:39:38,520 --> 02:39:39,960 A GIFT WHEN YOU DO. 3731 02:39:39,960 --> 02:39:42,040 WHEN YOU GET OUT OF THE HOSPITAL 3732 02:39:42,040 --> 02:39:43,720 THE LAST THING THEY MAY WANT IS 3733 02:39:43,720 --> 02:39:45,120 TO DEAL MORE WITH THE ILLNESS. 3734 02:39:45,120 --> 02:39:47,000 THEY WANT TO BE WITH THEIR 3735 02:39:47,000 --> 02:39:48,480 FAMILY AND FRIENDS OR JUST BE 3736 02:39:48,480 --> 02:39:50,440 ABLE TO FORGET WHAT WAS GOING 3737 02:39:50,440 --> 02:39:50,600 ON. 3738 02:39:50,600 --> 02:39:54,480 BEING AWARE OF THE DIFFERENCE 3739 02:39:54,480 --> 02:39:55,240 RESOURCES KNOWING THERE ARE 3740 02:39:55,240 --> 02:39:56,320 OTHER PEOPLE THEY CAN CONNECT 3741 02:39:56,320 --> 02:39:58,520 WITH AND KNOWING THEY CAN DO 3742 02:39:58,520 --> 02:39:59,720 THINGS THAT ARE NOT HOSPITAL 3743 02:39:59,720 --> 02:40:01,400 BASED SOME PROGRAMS AND SOME 3744 02:40:01,400 --> 02:40:03,080 TRIPS SOME OTHER ACTIVITIES 3745 02:40:03,080 --> 02:40:05,520 GOING ON THAT'S NOT JUST TALKING 3746 02:40:05,520 --> 02:40:08,640 ABOUT THEIR ILLNESS, IS 3747 02:40:08,640 --> 02:40:09,000 TREMENDOUS. 3748 02:40:09,000 --> 02:40:12,480 THAT REALLY DOES HELP BREAK DOWN 3749 02:40:12,480 --> 02:40:12,800 BARRIERS. 3750 02:40:12,800 --> 02:40:14,680 IN TERMS OF VOICING MY CHOICES, 3751 02:40:14,680 --> 02:40:20,280 IF YOU HAVE AN HONEST AUTHENTIC 3752 02:40:20,280 --> 02:40:21,600 CONVERSATION THEY GIVE AN HONEST 3753 02:40:21,600 --> 02:40:25,120 AND AUTHENTIC RESPONSE BACK. 3754 02:40:25,120 --> 02:40:26,920 I HAVEN'T FOUND THAT TO BE A 3755 02:40:26,920 --> 02:40:27,440 PROBLEM. 3756 02:40:27,440 --> 02:40:29,040 THE PROBLEM IS NO ONE KNOWS THE 3757 02:40:29,040 --> 02:40:31,320 RIGHT TIME TO DO THAT. 3758 02:40:31,320 --> 02:40:32,920 OFTEN TIME FOR ADOLESCENTING 3759 02:40:32,920 --> 02:40:34,320 ADULTS DON'T WANT TO RAISE THE 3760 02:40:34,320 --> 02:40:35,640 ISSUES BECAUSE THEY DON'T WANT 3761 02:40:35,640 --> 02:40:38,000 THEIR FAMILY TO THINK THEY'RE 3762 02:40:38,000 --> 02:40:40,120 HAVING NEGATIVE THOUGHTS. 3763 02:40:40,120 --> 02:40:43,200 PARENTS DON'T NECESSARILY WANT 3764 02:40:43,200 --> 02:40:44,880 TO RAISE IT WITH THEM BECAUSE 3765 02:40:44,880 --> 02:40:46,560 THEY DON'T WANT THEM TO THINK 3766 02:40:46,560 --> 02:40:48,160 THEY'RE HAVING NEGATIVE THOUGHTS 3767 02:40:48,160 --> 02:40:50,680 AND WIND UP IN ISOLATION AT A 3768 02:40:50,680 --> 02:40:52,680 TIME WHEN IT WOULD BRING 3769 02:40:52,680 --> 02:40:56,080 TREMENDOUS COMFORT TO KNOW IT'S 3770 02:40:56,080 --> 02:40:58,320 A SAFE THING TO TALK ABOUT TO 3771 02:40:58,320 --> 02:40:59,600 PAVE THE ROAD SO IF THEY WANTED 3772 02:40:59,600 --> 02:41:02,720 TO COME BACK AND HAVE THE 3773 02:41:02,720 --> 02:41:03,280 CONVERSATIONS THEY CAN. 3774 02:41:03,280 --> 02:41:06,360 BUT DON'T NEED TO. 3775 02:41:06,360 --> 02:41:06,800 >> THANKS. 3776 02:41:06,800 --> 02:41:08,960 I'LL GO BACK TO WHAT ALISON SAID 3777 02:41:08,960 --> 02:41:11,120 ABOUT INCREASING THE KNOWLEDGE 3778 02:41:11,120 --> 02:41:13,280 ABOUT THE FACT THAT AYE IS A 3779 02:41:13,280 --> 02:41:14,240 THING. 3780 02:41:14,240 --> 02:41:16,640 I THINK IT'S FOR ALL RARE 3781 02:41:16,640 --> 02:41:17,520 DISEASES. 3782 02:41:17,520 --> 02:41:19,000 LET'S MOVE IN A POSITIVE 3783 02:41:19,000 --> 02:41:19,240 DIRECTION. 3784 02:41:19,240 --> 02:41:22,840 I'LL ASK YOU GUYS WHERE YOU SEE 3785 02:41:22,840 --> 02:41:24,640 THE BIGGEST OPPORTUNITIES OVER 3786 02:41:24,640 --> 02:41:26,680 THE NEXT FEW YEARS TO HELP 3787 02:41:26,680 --> 02:41:30,560 AMPLIFY THE MESSAGE OF AYA BEING 3788 02:41:30,560 --> 02:41:32,320 A THING AND WHERE THERE'S 3789 02:41:32,320 --> 02:41:34,720 OPPORTUNITIES TO HELP THAT GROW? 3790 02:41:34,720 --> 02:41:38,720 >> I SEE ONE OF THE GREATEST 3791 02:41:38,720 --> 02:41:39,880 OPPORTUNITIES AND I THINK TCA IS 3792 02:41:39,880 --> 02:41:47,640 MAKING GREAT ADVANCES IS THE 3793 02:41:47,640 --> 02:41:49,200 COORDINATION OF CARE SPILLING 3794 02:41:49,200 --> 02:41:50,720 OUT TO SUPPORT GROUPS LIKE 3795 02:41:50,720 --> 02:41:54,360 STUPID CANCER AND BRINGING THAT 3796 02:41:54,360 --> 02:41:55,640 THROUGH LINE CLEARER FOR THE 3797 02:41:55,640 --> 02:41:59,200 PATIENT. 3798 02:41:59,200 --> 02:42:02,680 >> HILARY, DO YOU WANT TO ADD TO 3799 02:42:02,680 --> 02:42:02,920 THAT? 3800 02:42:02,920 --> 02:42:05,440 >> I THINK IT'S IMPORTANT TO 3801 02:42:05,440 --> 02:42:06,280 BRING THE EXPERIENCE THROUGH 3802 02:42:06,280 --> 02:42:10,480 TREATMENT FROM THE HOSPITAL OUT 3803 02:42:10,480 --> 02:42:12,040 TO THE COMMUNITY AND IT'S SUCH A 3804 02:42:12,040 --> 02:42:17,280 GREAT COMMUNITY AND THERE ARE 3805 02:42:17,280 --> 02:42:17,920 WONDERFUL ORGANIZATIONS OUT 3806 02:42:17,920 --> 02:42:26,560 THERE AND MAKE SURE PEOPLE ARE 3807 02:42:26,560 --> 02:42:27,200 KNOWLEDGEABLE AND KNOWING THE 3808 02:42:27,200 --> 02:42:29,400 SUPPORT THEY CAN GET FROM 3809 02:42:29,400 --> 02:42:30,400 ORGANIZATIONS WILL BE IMPORTANT. 3810 02:42:30,400 --> 02:42:32,480 >> AND IT'S HARD WHEN YOU'RE IN 3811 02:42:32,480 --> 02:42:34,080 THE POSITION OF GOING THROUGH 3812 02:42:34,080 --> 02:42:35,680 TREATMENT AND IT'S AN 3813 02:42:35,680 --> 02:42:36,480 OVERWHELMING EXPERIENCE. 3814 02:42:36,480 --> 02:42:38,200 AGAIN, YOU DON'T ALWAYS THINK 3815 02:42:38,200 --> 02:42:40,680 ABOUT -- I DON'T KNOW WHAT 3816 02:42:40,680 --> 02:42:41,680 RESOURCES I NEED. 3817 02:42:41,680 --> 02:42:45,120 NOT EVEN SURE WHAT TO LOOK FOR. 3818 02:42:45,120 --> 02:42:48,080 LORI WHAT WOULD YOU ADD FOR 3819 02:42:48,080 --> 02:42:48,400 OPPORTUNITIES? 3820 02:42:48,400 --> 02:42:50,480 >> HAVING AN AYE NAVIGATOR OR 3821 02:42:50,480 --> 02:42:52,680 PERSON MEET THEM ON THEIR FIRST 3822 02:42:52,680 --> 02:42:53,800 VISIT, LETTING THEM KNOW WHAT 3823 02:42:53,800 --> 02:42:55,080 PROGRAMS ARE AVAILABLE AND NOT 3824 02:42:55,080 --> 02:42:57,200 ALONE IS HUGELY HELPFUL. 3825 02:42:57,200 --> 02:42:59,240 MORE PLACES ARE CONSIDERING 3826 02:42:59,240 --> 02:43:01,720 HAVING AYA SPACES SO EVERYONE 3827 02:43:01,720 --> 02:43:03,240 AROUND THEM IS GOING TO BE 3828 02:43:03,240 --> 02:43:04,240 SOMEBODY THEIR AGE. 3829 02:43:04,240 --> 02:43:05,880 SOMEBODY THAT HASN'T COME UP YET 3830 02:43:05,880 --> 02:43:07,640 IS ALL THE LEADERSHIP 3831 02:43:07,640 --> 02:43:07,960 OPPORTUNITIES. 3832 02:43:07,960 --> 02:43:11,880 WHEN YOU HAVE SURVIVED OR GONE 3833 02:43:11,880 --> 02:43:12,720 THROUGH TREATMENT OR WHATEVER 3834 02:43:12,720 --> 02:43:14,520 SPACE YOU ARE AND HAVE THE 3835 02:43:14,520 --> 02:43:15,640 OPPORTUNITY TO MENTOR OR HELP 3836 02:43:15,640 --> 02:43:18,520 SOMEBODY ELSE FACING WHAT YOU 3837 02:43:18,520 --> 02:43:20,640 WERE FACING MAYBE MONTHS OR 3838 02:43:20,640 --> 02:43:22,960 YEARS AGO, THAT'S ALSO A 3839 02:43:22,960 --> 02:43:24,560 TREMENDOUS AND QUITE A GIFT. 3840 02:43:24,560 --> 02:43:26,960 I THINK YOU'LL HEAR FROM SOME 3841 02:43:26,960 --> 02:43:27,640 PEOPLE DOING JUST THAT THE REST 3842 02:43:27,640 --> 02:43:31,000 OF THE TODAY. 3843 02:43:31,000 --> 02:43:32,680 >> I DON'T KNOW IF THAT'S PART 3844 02:43:32,680 --> 02:43:33,880 OF YOUR PROGRAMS WITH SO MANY 3845 02:43:33,880 --> 02:43:35,200 SURVIVORS THAT HAVE BEEN THROUGH 3846 02:43:35,200 --> 02:43:36,760 IT IF THAT'S A PART OF WHAT YOU 3847 02:43:36,760 --> 02:43:37,200 GUYS DO AS WELL. 3848 02:43:37,200 --> 02:43:39,480 >> I WOULD AGREE. 3849 02:43:39,480 --> 02:43:41,920 HAVING THAT VISION OF WHAT THE 3850 02:43:41,920 --> 02:43:44,600 OTHER SIDE LOOKS LIKE CAN BE 3851 02:43:44,600 --> 02:43:46,000 INCREDIBLY INSPIRATIONAL FOR 3852 02:43:46,000 --> 02:43:46,200 FOLKS. 3853 02:43:46,200 --> 02:43:47,520 WE KNOW THERE'S SOME AYAs THAT 3854 02:43:47,520 --> 02:43:49,480 WANT TO CLOSE THE DOOR ON CANCER 3855 02:43:49,480 --> 02:43:55,640 AND NEVER TALK ABOUT IT 3856 02:43:55,640 --> 02:43:56,720 REALISTICALLY OR NOT AND 3857 02:43:56,720 --> 02:43:58,600 ENCOURAGE PEOPLE TO USE THEIR 3858 02:43:58,600 --> 02:44:01,800 VOICES WHETHER IT'S SHARING 3859 02:44:01,800 --> 02:44:07,520 THEIR OWN STORY OR HOLDING 3860 02:44:07,520 --> 02:44:08,920 SOMEONE'S HAND OR BEING 3861 02:44:08,920 --> 02:44:11,920 AVAILABLE CAN CHANGE THE 3862 02:44:11,920 --> 02:44:14,720 TRAJECTORY FOR PEOPLE. 3863 02:44:14,720 --> 02:44:18,520 >> AND BEING ON GROUPS. 3864 02:44:18,520 --> 02:44:20,720 >> AND ALL HOSPITALS BUILDING 3865 02:44:20,720 --> 02:44:22,360 AYA CANCER PROGRAMS HAVE AYAs ON 3866 02:44:22,360 --> 02:44:25,600 THE BOARD TO THINK ABOUT WHAT 3867 02:44:25,600 --> 02:44:26,600 THE PROGRAM NEEDS AND HOW IT 3868 02:44:26,600 --> 02:44:27,880 WILL WORK BECAUSE THEY KNOW THE 3869 02:44:27,880 --> 02:44:28,280 EXPERIENCE BEST. 3870 02:44:28,280 --> 02:44:29,680 >> THAT'S A GREAT POINT. 3871 02:44:29,680 --> 02:44:33,680 WE TALK ABOUT PATIENT-CENTERED 3872 02:44:33,680 --> 02:44:34,680 CARE AND IF YOU DON'T ASK THE 3873 02:44:34,680 --> 02:44:36,240 PATIENT WILL BENEFIT FROM IT YOU 3874 02:44:36,240 --> 02:44:38,040 CAN'T ASSUME TO KNOW WHAT THEY 3875 02:44:38,040 --> 02:44:38,240 WANT. 3876 02:44:38,240 --> 02:44:39,640 IT'S NOT ONE SIZE FITS ALL. 3877 02:44:39,640 --> 02:44:41,720 YOU'LL GET A RANGE OF OPINIONS 3878 02:44:41,720 --> 02:44:43,520 BECAUSE EVERYBODY'S COMING AT 3879 02:44:43,520 --> 02:44:44,800 THE RARE DISEASE OR RARE CANCER 3880 02:44:44,800 --> 02:44:45,400 EXPERIENCE FROM A DIFFERENCE 3881 02:44:45,400 --> 02:44:47,480 PLACE. 3882 02:44:47,480 --> 02:44:51,200 >> AND TO CONTINUE TO ASK THEM. 3883 02:44:51,200 --> 02:44:53,960 WHAT YOU THINK YOU NEED ONE 3884 02:44:53,960 --> 02:44:56,760 YOU'RE FIRST DIAGNOSED WITH AN 3885 02:44:56,760 --> 02:44:59,640 CONDITION WILL BE DIFFERENT TWO 3886 02:44:59,640 --> 02:45:01,800 MONTHS, THREE MONTHS, THREE 3887 02:45:01,800 --> 02:45:03,240 YEARS DOWN THE ROAD SO DON'T 3888 02:45:03,240 --> 02:45:04,280 ASSUME BECAUSE SOMEONE DIDN'T 3889 02:45:04,280 --> 02:45:07,440 WANT TO ENGAGE EARLY ON IS THE 3890 02:45:07,440 --> 02:45:07,800 SAME. 3891 02:45:07,800 --> 02:45:10,360 CONTINUE TO ASK AND ASSESS AND 3892 02:45:10,360 --> 02:45:11,640 CONTINUE TO INVITE. 3893 02:45:11,640 --> 02:45:12,640 >> GREAT POINT. 3894 02:45:12,640 --> 02:45:15,200 I KNOW WE'RE RUNNING TOWARD THE 3895 02:45:15,200 --> 02:45:16,640 END OF THE SESSION AND I WANT TO 3896 02:45:16,640 --> 02:45:18,600 SAVE A FEW MINUTES IN CASE 3897 02:45:18,600 --> 02:45:19,640 THERE'S QUESTIONS FROM THE 3898 02:45:19,640 --> 02:45:26,720 AUDIENCE. 3899 02:45:26,720 --> 02:45:29,600 EVEN ONLINE. 3900 02:45:29,600 --> 02:45:31,800 >> WE HAVE A QUESTION FROM AN 3901 02:45:31,800 --> 02:45:33,240 ONLINE VIEWER. 3902 02:45:33,240 --> 02:45:36,040 HOW DO YOU IDENTIFY WHEN IT'S AN 3903 02:45:36,040 --> 02:45:37,600 APPROPRIATE TIME TO RAISE A PLAN 3904 02:45:37,600 --> 02:45:44,160 FOR CHILDREN AND ADOLESCENTS? 3905 02:45:44,160 --> 02:45:44,880 >> IT'S AN INCREDIBLY IMPORTANT 3906 02:45:44,880 --> 02:45:48,120 QUESTION. 3907 02:45:48,120 --> 02:45:50,760 I BELIEVE IT'S IMPORTANT TO 3908 02:45:50,760 --> 02:45:52,520 RAISE THESE ISSUES EARLY ON 3909 02:45:52,520 --> 02:45:53,480 WITHIN A FAMILY. 3910 02:45:53,480 --> 02:45:55,640 IT'S AN IMPORTANT QUESTION TO BE 3911 02:45:55,640 --> 02:45:58,480 ABLE TO HAVE FOR ALL FAMILY 3912 02:45:58,480 --> 02:46:00,120 MEMBERS REGARDLESS OF HAVING AN 3913 02:46:00,120 --> 02:46:01,400 ILLNESS OR NOT AND TO BE ABLE TO 3914 02:46:01,400 --> 02:46:06,360 DO IT IN A WAY THAT BROACHING IT 3915 02:46:06,360 --> 02:46:07,640 I HOPE YOU'LL DO WELL AND WE'LL 3916 02:46:07,640 --> 02:46:09,520 BE BY YOUR SIDE AND WE'LL 3917 02:46:09,520 --> 02:46:14,600 SUPPORT YOU AND HOPE YOU'RE 3918 02:46:14,600 --> 02:46:17,720 LIVING A LONG LIFE BUT HAVEN'T 3919 02:46:17,720 --> 02:46:18,800 GIVEN THOUGHT TO WHAT'S 3920 02:46:18,800 --> 02:46:20,240 IMPORTANT TO YOU IF YOU BECAME 3921 02:46:20,240 --> 02:46:21,520 SERIOUSLY ILL DEPENDING ON THE 3922 02:46:21,520 --> 02:46:22,480 AGE OF THE PERSON. 3923 02:46:22,480 --> 02:46:24,840 I THINK ALSO JUST TALKING TO 3924 02:46:24,840 --> 02:46:26,040 SOMEBODY ABOUT WHEN YOU CLOSE 3925 02:46:26,040 --> 02:46:28,520 YOUR EYES AT NIGHT AND HAVE 3926 02:46:28,520 --> 02:46:31,000 THOSE WHAT-IFs. 3927 02:46:31,000 --> 02:46:31,880 WHAT ARE THOSE? 3928 02:46:31,880 --> 02:46:32,560 TALKING ABOUT SOMETHING DOESN'T 3929 02:46:32,560 --> 02:46:34,480 MAKE IT HAPPEN. 3930 02:46:34,480 --> 02:46:36,200 I THINK A LOT OF PEOPLE THINK IF 3931 02:46:36,200 --> 02:46:38,200 THEY DO SAY IT OUTLOUD THEN IT 3932 02:46:38,200 --> 02:46:38,520 CAN HAPPEN. 3933 02:46:38,520 --> 02:46:41,040 TELL ME ABOUT SOME OF THOSE 3934 02:46:41,040 --> 02:46:41,560 WHAT-IFs. 3935 02:46:41,560 --> 02:46:43,040 SO YOU CAN ADDRESS IT AND THEY 3936 02:46:43,040 --> 02:46:45,360 DON'T HAVE TO BE ABLE TO CARRY 3937 02:46:45,360 --> 02:46:47,640 THAT WITH THEM AND THEY CAN TAKE 3938 02:46:47,640 --> 02:46:49,440 THAT ENERGY AND WORRY AND 3939 02:46:49,440 --> 02:46:51,080 ANXIETY AND USE THAT TO GET WELL 3940 02:46:51,080 --> 02:46:51,800 AND LIVE THEIR LIFE TO THE 3941 02:46:51,800 --> 02:46:53,720 FULLEST. 3942 02:46:53,720 --> 02:46:55,440 >> I'M GOING TO COME OVER TO THE 3943 02:46:55,440 --> 02:46:58,480 SIDE FOR THE NEXT QUESTION. 3944 02:46:58,480 --> 02:46:59,640 >> THANK YOU SO MUCH. 3945 02:46:59,640 --> 02:47:02,520 THIS IS SO NEEDED. 3946 02:47:02,520 --> 02:47:07,680 IT'S SO GOOD TO HEAR WHAT YOU 3947 02:47:07,680 --> 02:47:09,320 GUYS ARE DOING. 3948 02:47:09,320 --> 02:47:11,440 ONE OF MY CONCERNS HAS BEEN FOR 3949 02:47:11,440 --> 02:47:14,440 A NUMBER OF YEARS THAT I SEE 3950 02:47:14,440 --> 02:47:15,280 CHILDREN WITH RARE DISEASES THAT 3951 02:47:15,280 --> 02:47:18,720 TAKE ABOUT 6.5 YEARS. 3952 02:47:18,720 --> 02:47:21,200 SOME KIDS GOU THROUGH HORRENDOUS 3953 02:47:21,200 --> 02:47:24,960 PROBLEMS AND I MENTION THE PAIN 3954 02:47:24,960 --> 02:47:27,640 AND THEN YOU HAVE NOW PEOPLE 3955 02:47:27,640 --> 02:47:30,240 SAYING WELL, IT'S BECAUSE YOU 3956 02:47:30,240 --> 02:47:31,200 HAVE THIS TRAUMA. 3957 02:47:31,200 --> 02:47:34,240 YOU HAVE THIS ILLNESS OR THE 3958 02:47:34,240 --> 02:47:36,560 PAIN'S BECAUSE OF THIS TRAUMA. 3959 02:47:36,560 --> 02:47:38,520 INSTEAD OF RECOGNIZING THIS 3960 02:47:38,520 --> 02:47:40,440 TRAUMA IS BECAUSE WE HAVE A 3961 02:47:40,440 --> 02:47:42,280 PRETTY BRUTAL HEALTH CARE 3962 02:47:42,280 --> 02:47:42,520 SYSTEM. 3963 02:47:42,520 --> 02:47:44,520 THERE'S NO NEGATIVITY THERE. 3964 02:47:44,520 --> 02:47:46,560 I THANK GOD FOR THE PHYSICIANS 3965 02:47:46,560 --> 02:47:47,560 WORKING IN THE SYSTEM. 3966 02:47:47,560 --> 02:47:49,760 I'M JUST HIGHLY CONCERNED FOR 3967 02:47:49,760 --> 02:47:51,560 OUR YOUTH AND YOUNG ADULTS RIGHT 3968 02:47:51,560 --> 02:47:54,120 NOW BECAUSE WHAT A SEE IS SOME 3969 02:47:54,120 --> 02:47:58,600 OF THOSE STAYING AWAY AND HAVING 3970 02:47:58,600 --> 02:47:58,800 CRISES. 3971 02:47:58,800 --> 02:48:01,440 I DON'T WANT TO GO BACK TO A 3972 02:48:01,440 --> 02:48:02,360 DOCTOR BECAUSE THEY DON'T LISTEN 3973 02:48:02,360 --> 02:48:07,680 OR CARE ABOUT ME AND I SEE 3974 02:48:07,680 --> 02:48:13,160 DIAGNOSES LIKE BORDERLINE TRAUMA 3975 02:48:13,160 --> 02:48:14,840 AND HOW DO WE BECOME SENSITIVE 3976 02:48:14,840 --> 02:48:16,600 SO WE DON'T HAVE KIDS LEAVING 3977 02:48:16,600 --> 02:48:20,080 ONCE THEY'RE 18 AND GETTING IN 3978 02:48:20,080 --> 02:48:21,720 CRISES AND COMING BACK? 3979 02:48:21,720 --> 02:48:23,640 IT'S A VICIOUS CYCLE. 3980 02:48:23,640 --> 02:48:28,800 CAN YOU SPEAK TO THAT? 3981 02:48:28,800 --> 02:48:32,000 >> TRAUMA-INFORMED CARE. 3982 02:48:32,000 --> 02:48:33,040 IT'S SO CRITICALLY IMPORTANT. 3983 02:48:33,040 --> 02:48:34,680 AND TO BE ABLE TO HAVE SOMEBODY 3984 02:48:34,680 --> 02:48:35,920 THAT'S GOING TO BE WITH YOU 3985 02:48:35,920 --> 02:48:37,480 THROUGH THAT JOURNEY TO BE ABLE 3986 02:48:37,480 --> 02:48:39,440 TO KNOW SOME OF THE THINGS WE DO 3987 02:48:39,440 --> 02:48:42,320 IN A MEDICAL SETTING CAN BE 3988 02:48:42,320 --> 02:48:43,640 TRAUMATIZING. 3989 02:48:43,640 --> 02:48:46,160 AND TO BE ABLE TO IDENTIFY THAT. 3990 02:48:46,160 --> 02:48:48,720 SOMETHING THAT WASN'T ALSO 3991 02:48:48,720 --> 02:48:50,800 RAISED EARLIER THE IMPORTANCE OF 3992 02:48:50,800 --> 02:48:52,280 PALLIATIVE CARE. 3993 02:48:52,280 --> 02:48:54,440 I THINK PEOPLE STILL THINK OF IT 3994 02:48:54,440 --> 02:48:59,080 AS BEING HOSPICE CARE BUT 3995 02:48:59,080 --> 02:49:00,400 PALLIATIVE PROVIDERS IS ABOUT 3996 02:49:00,400 --> 02:49:01,840 DISTRESSING SYMPTOMS INCLUDING 3997 02:49:01,840 --> 02:49:03,600 PAIN OR ANXIETY OR SHORTNESS OF 3998 02:49:03,600 --> 02:49:04,040 BREATH. 3999 02:49:04,040 --> 02:49:06,880 AND WORKING WITH A PALLIATIVE 4000 02:49:06,880 --> 02:49:08,320 CARE PROVIDER COULD BE 4001 02:49:08,320 --> 02:49:09,800 INSTRUMENTAL TO IMPROVE THE 4002 02:49:09,800 --> 02:49:11,920 QUALITY OF YOUR LIFE AND TO BE 4003 02:49:11,920 --> 02:49:14,360 ABLE TO HAVE THAT VOICE TO TAKE 4004 02:49:14,360 --> 02:49:17,040 YOU THROUGH YOUR CARE TREATMENT 4005 02:49:17,040 --> 02:49:18,920 SO THAT IT DOESN'T BECOME 4006 02:49:18,920 --> 02:49:19,560 INCREASINGLY TRAUMATIZING YOU 4007 02:49:19,560 --> 02:49:20,720 DON'T WANT TO GO BACK TO THE 4008 02:49:20,720 --> 02:49:21,040 HOSPITAL. 4009 02:49:21,040 --> 02:49:26,160 YOU FEEL LIKE YOU HAVE NOT BEEN 4010 02:49:26,160 --> 02:49:27,640 HEARD OR -- 4011 02:49:27,640 --> 02:49:29,800 >> PHYSICIANS WITH PALLIATIVE 4012 02:49:29,800 --> 02:49:31,760 CARE IS HOSPICE CARE. 4013 02:49:31,760 --> 02:49:35,640 >> EDUCATION IS NEEDED BUT WE 4014 02:49:35,640 --> 02:49:37,840 NEED MORE PALLIATIVE CARE 4015 02:49:37,840 --> 02:49:38,800 PROVIDERS AND SEE HOW IMPORTANT 4016 02:49:38,800 --> 02:49:41,600 THEY ARE TO BE PART OF THE TEAM 4017 02:49:41,600 --> 02:49:43,640 AND BE INTRODUCED NOT AT END OF 4018 02:49:43,640 --> 02:49:44,840 LIFE BUT EARLY ON LIKE YOU 4019 02:49:44,840 --> 02:49:48,680 INTRODUCE A SOCIAL WORKER OR 4020 02:49:48,680 --> 02:49:49,920 PSYCHOLOGIST OR CHILD LIFE 4021 02:49:49,920 --> 02:49:50,240 SPECIALIST. 4022 02:49:50,240 --> 02:49:59,640 >> A QUESTION FROM THIS SIDE. 4023 02:49:59,640 --> 02:50:10,160 >> -- AND COLLABORATING WITH 4024 02:50:57,480 --> 02:50:59,640 PEDIATRIC PHYSICIAN CLINICS. 4025 02:50:59,640 --> 02:51:00,280 IF YOU HAVE AN ORGANIZATION 4026 02:51:00,280 --> 02:51:04,520 INVOLVED IN THIS WE WELCOME YOU 4027 02:51:04,520 --> 02:51:05,360 AND CONTINUE THE CONVERSATION 4028 02:51:05,360 --> 02:51:07,960 AFTER THIS CONFERENCE. 4029 02:51:07,960 --> 02:51:08,160 THANKS. 4030 02:51:08,160 --> 02:51:09,200 >> THAT'S FANTASTIC. 4031 02:51:09,200 --> 02:51:11,160 >> WHAT ROOM ARE YOU MEETING IN? 4032 02:51:11,160 --> 02:51:14,960 >> THE PEDIATRIC CANCER 4033 02:51:14,960 --> 02:51:15,560 PREDISPOSITION COALITION. 4034 02:51:15,560 --> 02:51:18,920 >> WHAT ROOM? 4035 02:51:18,920 --> 02:51:20,800 >> CONFERENCE ROOM F1. 4036 02:51:20,800 --> 02:51:23,040 DIRECTLY BEHIND US. 4037 02:51:23,040 --> 02:51:23,480 >> GREAT. 4038 02:51:23,480 --> 02:51:24,480 FOR THOSE INTERESTED I AM SORRY. 4039 02:51:24,480 --> 02:51:26,760 I THINK WE'RE OUT OF TIME WE'LL 4040 02:51:26,760 --> 02:51:28,360 HAVE TO MOVE TO THE NEXT SESSION 4041 02:51:28,360 --> 02:51:30,320 BUT PLEASE TRY TO CATCH UP WITH 4042 02:51:30,320 --> 02:51:31,640 US DURING THE BREAKS TO ANSWER 4043 02:51:31,640 --> 02:51:33,480 YOUR QUESTIONS. 4044 02:51:33,480 --> 02:51:37,960 >> NO PROBLEM. 4045 02:51:37,960 --> 02:51:39,200 JUST SOMETHING TO HAVE YOU THINK 4046 02:51:39,200 --> 02:51:39,760 ABOUT. 4047 02:51:39,760 --> 02:51:40,720 >> THANK YOU TO OUR WONDERFUL 4048 02:51:40,720 --> 02:51:43,600 SPEAKERS AND PANELISTS AND FOR 4049 02:51:43,600 --> 02:51:45,120 THE OPPORTUNITY TO SHARE WITH 4050 02:51:45,120 --> 02:51:46,280 YOU THIS MORNING. 4051 02:51:46,280 --> 02:51:49,240 >> I WANT TO ECHO THANK YOUs AND 4052 02:51:49,240 --> 02:51:54,920 MENTION THAT WE ARE CONTINUING 4053 02:51:54,920 --> 02:51:58,200 THIS TOPIC FOR ADOLESCENT AND 4054 02:51:58,200 --> 02:51:59,200 YOUNG ADULT PATIENTS. 4055 02:51:59,200 --> 02:52:02,840 I'M TRYING TO TALK AND NAVIGATE. 4056 02:52:02,840 --> 02:52:10,040 I SHOULD PROBABLY FOCUS. 4057 02:52:10,040 --> 02:52:13,000 >> NEXT I WANT TO INTRODUCE OUR 4058 02:52:13,000 --> 02:52:16,440 FIRST RARE STORY SPEAKER. 4059 02:52:16,440 --> 02:52:19,440 HER NAME IS ABBEY HAUSER. 4060 02:52:19,440 --> 02:52:20,160 A YOUNG ADULT RARE DISEASE 4061 02:52:20,160 --> 02:52:21,080 ADVOCATE AND PATIENT AND THE 4062 02:52:21,080 --> 02:52:23,240 TITLE OF HER TALK IS BECOMING 4063 02:52:23,240 --> 02:52:24,600 THE CAPTAIN. 4064 02:52:24,600 --> 02:52:25,880 MY EXPERIENCE TRANSITIONING FROM 4065 02:52:25,880 --> 02:52:36,440 PEDIATRIC TO ADULT HEALTH CARE. 4066 02:52:50,800 --> 02:52:56,680 >> HI, MY NAME IS ABBY HOUSER 4067 02:52:56,680 --> 02:52:58,000 AND A YOUNG ADULT RARE DISEASE 4068 02:52:58,000 --> 02:52:58,280 ADVOCATE. 4069 02:52:58,280 --> 02:53:00,080 TODAY I'LL TALK ABOUT MY 4070 02:53:00,080 --> 02:53:01,240 TRANSITION INTEREST PEDIATRIC TO 4071 02:53:01,240 --> 02:53:02,840 ADULT HEALTH CARE AND I CALL 4072 02:53:02,840 --> 02:53:04,640 THIS BECOMING THE CAPTAIN. 4073 02:53:04,640 --> 02:53:05,800 MY PRESENTATION TODAY WILL BE A 4074 02:53:05,800 --> 02:53:07,680 LITTLE BIT OF A MIX OF MY 4075 02:53:07,680 --> 02:53:15,640 PERSONAL STORY, A METAPHOR FOR 4076 02:53:15,640 --> 02:53:18,120 THE TRANSITION AND IDEAS HOW TO 4077 02:53:18,120 --> 02:53:19,280 IMPACT THESE DECISIONS. 4078 02:53:19,280 --> 02:53:21,360 MY FIRST MEMORY OF RARE DISEASE 4079 02:53:21,360 --> 02:53:25,240 IS ONE FILLED WITH FEAR AND 4080 02:53:25,240 --> 02:53:25,640 UNCERTAINTY. 4081 02:53:25,640 --> 02:53:29,080 I WAS 6 YEAR OLD IN THE PHOTOS 4082 02:53:29,080 --> 02:53:30,880 AND HOURS PRIOR I HAD JUST 4083 02:53:30,880 --> 02:53:32,800 DISLOCATED MY KNEE FOR THE FIRST 4084 02:53:32,800 --> 02:53:33,960 TIME WHILE PLAYING WITH TOYS IN 4085 02:53:33,960 --> 02:53:34,440 MY BED. 4086 02:53:34,440 --> 02:53:36,120 YOU'D THINK THE PAIN WOULD BE 4087 02:53:36,120 --> 02:53:37,680 THE FIRST MEMORY I HOLD ON TO 4088 02:53:37,680 --> 02:53:40,880 FROM THIS DAY BUT INSTEAD THE 4089 02:53:40,880 --> 02:53:41,400 FEAR DOMINATES. 4090 02:53:41,400 --> 02:53:45,280 WHEN THIS HAPPENED I WAS HOME 4091 02:53:45,280 --> 02:53:45,480 ALONE. 4092 02:53:45,480 --> 02:53:47,120 ONCE ONE SECOND I WAS PLAYING, 4093 02:53:47,120 --> 02:53:50,040 THE NEXT I SHIFTED MY LEG AND MY 4094 02:53:50,040 --> 02:53:53,520 KNEECAP SLID OUT OF PLACE AND I 4095 02:53:53,520 --> 02:53:54,880 FROZE FEAR GRIPPING ME. 4096 02:53:54,880 --> 02:53:59,640 MY PARENTS, SIBLINGS AND PARENTS 4097 02:53:59,640 --> 02:54:01,520 AND NEIGHBORS WERE OUTSIDE AND 4098 02:54:01,520 --> 02:54:03,600 HAVING A GARAGE SALE. 4099 02:54:03,600 --> 02:54:05,160 I GOT HOT AND ASKED FOR 4100 02:54:05,160 --> 02:54:07,120 PERMISSION TO GO INSIDE TO PLAY. 4101 02:54:07,120 --> 02:54:09,640 IN THIS SEEMINGLY SIMPLE ACTION 4102 02:54:09,640 --> 02:54:11,040 TURNED INTO SOMETHING MORE WHICH 4103 02:54:11,040 --> 02:54:13,320 I KNOW IS AN EXPERIENCE MANY 4104 02:54:13,320 --> 02:54:14,640 RARE DISEASE PATIENTS AND 4105 02:54:14,640 --> 02:54:15,160 FAMILIES HOLD. 4106 02:54:15,160 --> 02:54:18,480 I VIVIDLY REMEMBER THIS DAY AND 4107 02:54:18,480 --> 02:54:19,920 THIS INTERNAL PEP TALK I GAVE 4108 02:54:19,920 --> 02:54:21,880 MYSELF IN THAT MOMENT REMINDING 4109 02:54:21,880 --> 02:54:22,920 ME NOT TO PANIC. 4110 02:54:22,920 --> 02:54:26,800 USING LANGUAGE I KNOW TODAY I 4111 02:54:26,800 --> 02:54:29,920 MUST HAVE BEEN SUBLEXING MY 4112 02:54:29,920 --> 02:54:32,160 KNEECAP OR PARTIALLY DISLOCATING 4113 02:54:32,160 --> 02:54:34,360 IT MANY TIMES PRIOR TO THE 4114 02:54:34,360 --> 02:54:34,760 MOMENT. 4115 02:54:34,760 --> 02:54:38,000 I REMEMBER THINKING IF I JUST 4116 02:54:38,000 --> 02:54:40,840 STAYED CALM EVENTUALLY IT'D 4117 02:54:40,840 --> 02:54:42,640 SHIFT ON AND MOVE ON WITH MY 4118 02:54:42,640 --> 02:54:42,840 DAY. 4119 02:54:42,840 --> 02:54:45,640 I GOT THAT IDEA FROM A PAST 4120 02:54:45,640 --> 02:54:47,280 SITUATION BUT I DIDN'T HAVE THE 4121 02:54:47,280 --> 02:54:49,160 LANGUAGE AT 6 YEARS OLD TO 4122 02:54:49,160 --> 02:54:51,640 EXPLAIN THIS PHENOMENON 4123 02:54:51,640 --> 02:54:56,040 HAPPENING TO MY PARENTS OR 4124 02:54:56,040 --> 02:54:56,360 ANYONE ELSE. 4125 02:54:56,360 --> 02:54:58,760 THAT DAY THE FEELING DID NOT 4126 02:54:58,760 --> 02:55:01,120 PASS AND THE FEELING ONLY 4127 02:55:01,120 --> 02:55:02,400 INTENSIFIED. 4128 02:55:02,400 --> 02:55:04,040 MY LITTLE KID PEP TALK NO LONGER 4129 02:55:04,040 --> 02:55:06,120 WORKED AND I STARTED PANICKING. 4130 02:55:06,120 --> 02:55:08,800 I REMEMBER CRYING AND YELLING 4131 02:55:08,800 --> 02:55:11,760 FOR HELP BUT NO ONE CAME. 4132 02:55:11,760 --> 02:55:15,000 I COULDN'T MOVE AND MY KNEE HURT 4133 02:55:15,000 --> 02:55:16,440 IN A WAY ALMOST INDESCRIBABLE IN 4134 02:55:16,440 --> 02:55:16,800 WORDS. 4135 02:55:16,800 --> 02:55:17,840 I DIDN'T KNOW WHAT WAS HAPPENING 4136 02:55:17,840 --> 02:55:21,000 TO ME AND I WAS ALONE. 4137 02:55:21,000 --> 02:55:23,480 THUS BEGAN WHAT I CALL MY 4138 02:55:23,480 --> 02:55:24,080 OFFICIAL START OF MY RARE 4139 02:55:24,080 --> 02:55:28,040 DISEASE JOURNEY. 4140 02:55:28,040 --> 02:55:30,720 UNFORTUNATELY IT WOULD NOT BE 4141 02:55:30,720 --> 02:55:35,640 THE LAST TIME I FEEL ALONE OR 4142 02:55:35,640 --> 02:55:39,800 EXPERIENCE UNCERTAINTY IN THE 4143 02:55:39,800 --> 02:55:40,640 DIAGNOSIS. 4144 02:55:40,640 --> 02:55:42,160 THAT DAY BACK IN 2002 I WILL 4145 02:55:42,160 --> 02:55:43,880 NEVER KNOW HOW LONG I WAS CRYING 4146 02:55:43,880 --> 02:55:45,800 FOR HELP FOR BUT EVENTUALLY A 4147 02:55:45,800 --> 02:55:48,240 NEIGHBOR WALKED IN AND HEARD ME. 4148 02:55:48,240 --> 02:55:49,720 AFTER THAT THEY GATHERED MORE 4149 02:55:49,720 --> 02:55:52,440 NEIGHBORS, PARENTS AND FRIENDS 4150 02:55:52,440 --> 02:55:53,640 AND MORE PEOPLE WERE INVOLVED IN 4151 02:55:53,640 --> 02:55:59,040 GETTING ME INTO THE CAR TO GO TO 4152 02:55:59,040 --> 02:56:03,960 THE E.R. IN THE HOSPITAL THAN MY 4153 02:56:03,960 --> 02:56:06,120 SHY, LITTLE KID HEART WOULD HAVE 4154 02:56:06,120 --> 02:56:06,800 WANTED. 4155 02:56:06,800 --> 02:56:09,680 I QUICKLY LEARNED AT THAT AGE IT 4156 02:56:09,680 --> 02:56:12,960 WAS NOT THE CAPTAIN OF MY SHIP. 4157 02:56:12,960 --> 02:56:15,200 AND IN THINKING ABOUT MY STORY 4158 02:56:15,200 --> 02:56:17,480 THE REFERENCE OF BEING CAPTAIN 4159 02:56:17,480 --> 02:56:19,400 OF MY SHIP KEPT COMING TO MY 4160 02:56:19,400 --> 02:56:20,680 MIND. 4161 02:56:20,680 --> 02:56:21,520 A NAUTICAL REFERENCE FOR RARE 4162 02:56:21,520 --> 02:56:23,280 DISEASE FEELS NATURAL TO ME. 4163 02:56:23,280 --> 02:56:24,880 BACKGROUND OF ME, I'M FROM 4164 02:56:24,880 --> 02:56:30,520 MINNESOTA KNOWN AS THE LAND OF 4165 02:56:30,520 --> 02:56:30,880 10,000 LAKES. 4166 02:56:30,880 --> 02:56:33,120 WE HAVE WATER ALL AROUND. 4167 02:56:33,120 --> 02:56:36,480 I GREW UP ON AND AROUND WATER MY 4168 02:56:36,480 --> 02:56:38,800 ENTIRE LIFE AND WAS A CAPTAIN ON 4169 02:56:38,800 --> 02:56:40,320 THE UNIVERSITY OF MINNESOTA 4170 02:56:40,320 --> 02:56:44,480 ROWING TEAM FOR FOUR YEARS SO I 4171 02:56:44,480 --> 02:56:47,200 SPENT 4 YEARS OF MY LIFE ON THE 4172 02:56:47,200 --> 02:56:48,800 MISSISSIPPI RIVER AND A LIKE 4173 02:56:48,800 --> 02:56:49,000 BOATS. 4174 02:56:49,000 --> 02:56:50,160 BECAUSE OF THIS INTEREST LAST 4175 02:56:50,160 --> 02:56:51,600 SEPTEMBER I FOUND MYSELF 4176 02:56:51,600 --> 02:56:56,040 VISITING THE USS MIDWAY MUSEUM 4177 02:56:56,040 --> 02:56:59,200 IN SAN DIEGO WHEN IN TOWN FOR A 4178 02:56:59,200 --> 02:57:01,120 RARE DISEASE CONFERENCE. 4179 02:57:01,120 --> 02:57:03,880 IT'S A RESTORED AIRCRAFT CARRIER 4180 02:57:03,880 --> 02:57:05,360 YOU CAN TOUR. 4181 02:57:05,360 --> 02:57:08,360 I CAME ACROSS THE READY ROOMS 4182 02:57:08,360 --> 02:57:09,960 THEY'D USE FOR PRE AND POST 4183 02:57:09,960 --> 02:57:11,520 FLIGHT BRIEFS AND PROBABLY 4184 02:57:11,520 --> 02:57:14,080 BECAUSE I WAS JUST AT A RARE 4185 02:57:14,080 --> 02:57:16,920 DISEASE CONFERENCE MY MIND 4186 02:57:16,920 --> 02:57:20,600 IMMEDIATE MY SAW THE SETUP AND 4187 02:57:20,600 --> 02:57:23,640 THOUGHT, HUH, I WONDER IF 4188 02:57:23,640 --> 02:57:24,800 EVERYONE INVOLVED IN MY RARE 4189 02:57:24,800 --> 02:57:27,640 DISEASE CARE COULD ALL SIT 4190 02:57:27,640 --> 02:57:30,440 TOGETHER AND BE WITH THEM IN A 4191 02:57:30,440 --> 02:57:31,200 MEETING. 4192 02:57:31,200 --> 02:57:32,840 WHICH THEN BECAUSE I'M A WRITER 4193 02:57:32,840 --> 02:57:36,080 AND MY MIND IS WIRED FOR STORY I 4194 02:57:36,080 --> 02:57:40,120 THOUGHT OF HOW PERFECTLY IT 4195 02:57:40,120 --> 02:57:41,160 WOULD BE FOR THE TRANSITION FROM 4196 02:57:41,160 --> 02:57:42,720 PEDIATRIC TO ADULTHOOD. 4197 02:57:42,720 --> 02:57:44,880 I THINK OF IT LIKE THIS. 4198 02:57:44,880 --> 02:57:48,960 THE RARE DISEASE YOU A OR 4199 02:57:48,960 --> 02:57:50,240 UNDERCHILD HAS IS THE BOAT. 4200 02:57:50,240 --> 02:57:52,040 ALL THE PEOPLE INVOLVED IN THEIR 4201 02:57:52,040 --> 02:57:55,120 CARE LIKE THEIR PRIMARY CARE 4202 02:57:55,120 --> 02:57:56,600 PHYSICIANS, SPECIALISTS, 4203 02:57:56,600 --> 02:57:58,400 PHARMACISTS, EDUCATORS, 4204 02:57:58,400 --> 02:58:01,840 EMPLOYEES, AND MANY MORE ARE ALL 4205 02:58:01,840 --> 02:58:05,200 HAVING DIFFERENT ROLES AND 4206 02:58:05,200 --> 02:58:05,720 EVERYONE'S BOAT OPERATES 4207 02:58:05,720 --> 02:58:06,040 DIFFERENTLY. 4208 02:58:06,040 --> 02:58:07,600 THESE PEOPLE ARE IN CHARGE OF 4209 02:58:07,600 --> 02:58:10,240 KEEPING THE BOAT FUNCTIONING AND 4210 02:58:10,240 --> 02:58:12,080 FLOATING AND IDEALLY THRIVING. 4211 02:58:12,080 --> 02:58:15,720 AS A KID, AT THE HELM OF THE 4212 02:58:15,720 --> 02:58:17,520 OPERATION, IS YOUR PARENTS. 4213 02:58:17,520 --> 02:58:19,600 THE CAPTAINS. 4214 02:58:19,600 --> 02:58:21,080 THE KID IS OWNER OF THE BOAT BUT 4215 02:58:21,080 --> 02:58:23,720 NOT IN CHARGE. 4216 02:58:23,720 --> 02:58:28,040 THEY'RE ROLE CAN VARY. 4217 02:58:28,040 --> 02:58:31,320 SOME ARE SECOND IN AND SOME ARE 4218 02:58:31,320 --> 02:58:35,200 SAILOR FURTHER BACK IN THE RANKS 4219 02:58:35,200 --> 02:58:37,000 AND OTHER PASSENGERS. 4220 02:58:37,000 --> 02:58:38,840 THE MOMENT YOU TURN 18 IN A LOT 4221 02:58:38,840 --> 02:58:42,080 OF INSTITUTIONS AND LEGALLY, YOU 4222 02:58:42,080 --> 02:58:43,520 BECOME THE CAPTAIN WHETHER YOU 4223 02:58:43,520 --> 02:58:44,880 WANT THE ROLE OR NOT IT BECOMES 4224 02:58:44,880 --> 02:58:49,360 YOURS. 4225 02:58:49,360 --> 02:58:51,280 YET THE TRANSITION OBVIOUSLY 4226 02:58:51,280 --> 02:58:52,960 WORKS BETTER FOR SOME THAN 4227 02:58:52,960 --> 02:58:53,200 OTHERS. 4228 02:58:53,200 --> 02:58:54,240 WE IMAGINE THE TRANSITION FROM 4229 02:58:54,240 --> 02:58:57,160 SECOND IN COMMAND TO CAPTAIN IS 4230 02:58:57,160 --> 02:58:58,000 A SMALLER JUMP THAN PASSENGER TO 4231 02:58:58,000 --> 02:59:00,400 CAPTAIN. 4232 02:59:00,400 --> 02:59:02,160 WHERE YOU SIT IN THE CHAIN OF 4233 02:59:02,160 --> 02:59:03,760 COMMAND AS A KID IS GOING TO 4234 02:59:03,760 --> 02:59:05,600 INFLUENCE YOUR OUTCOMES WHEN YOU 4235 02:59:05,600 --> 02:59:08,840 FINALLY BECOME THE CAPTAIN. 4236 02:59:08,840 --> 02:59:13,680 CIRCLING BACK TO MY STORY, I WAS 4237 02:59:13,680 --> 02:59:14,720 DIAGNOSED A YEAR AFTER THE 4238 02:59:14,720 --> 02:59:16,280 PICTURE WAS TAKEN. 4239 02:59:16,280 --> 02:59:21,120 TO PUT IT MILDLY MY RARE DISEASE 4240 02:59:21,120 --> 02:59:27,480 BOAT WAS INEFFICIENTLY RUN MOST 4241 02:59:27,480 --> 02:59:29,520 OF MY CARE. 4242 02:59:29,520 --> 02:59:32,360 I LIVED 45 MINUTES FROM MY 4243 02:59:32,360 --> 02:59:32,960 PEDIATRICIAN BECAUSE WE COULDN'T 4244 02:59:32,960 --> 02:59:35,640 FIND ANOTHER ONE AFTER WE MOVED 4245 02:59:35,640 --> 02:59:37,600 AWAY AS KNOWLEDGEABLE IN MY 4246 02:59:37,600 --> 02:59:37,840 CONDITION. 4247 02:59:37,840 --> 02:59:39,640 BECAUSE OF THAT WE RARELY SAW 4248 02:59:39,640 --> 02:59:40,680 HIM EXCEPT FOR CHECKUPS 4249 02:59:40,680 --> 02:59:41,360 THROUGHOUT THE YEAR. 4250 02:59:41,360 --> 02:59:43,360 THE CHAIN OF COMMAND IN MY BOAT 4251 02:59:43,360 --> 02:59:44,800 WAS CONFUSING AND WHILE WE 4252 02:59:44,800 --> 02:59:46,440 MANAGED TO KEEP MY BOAT AFLOAT 4253 02:59:46,440 --> 02:59:48,840 BECAUSE I'M STILL HERE TODAY, IT 4254 02:59:48,840 --> 02:59:51,760 WAS NOT SMOOTH SAILING. 4255 02:59:51,760 --> 02:59:54,640 AND FAST FORWARD 12 YEARS WE 4256 02:59:54,640 --> 02:59:55,200 LAND HERE. 4257 02:59:55,200 --> 02:59:58,400 I LOVE THE SYNCHRONICITY OF THE 4258 02:59:58,400 --> 03:00:00,000 TWO PHOTOS FROM MY CHILDHOOD TO 4259 03:00:00,000 --> 03:00:02,200 WHEN I TURNED 18 BECAUSE SIX 4260 03:00:02,200 --> 03:00:05,720 DAYS AFTER I TURNED 18 I HAD 4261 03:00:05,720 --> 03:00:07,680 SURGERY ON THE SAME KNEE THAT 4262 03:00:07,680 --> 03:00:10,320 START THE JOURNEY. 4263 03:00:10,320 --> 03:00:15,360 UNFORTUNATELY THAT DAY WAS ALSO 4264 03:00:15,360 --> 03:00:17,680 FILLED WITH ALMOST THE SAME 4265 03:00:17,680 --> 03:00:19,640 AMOUNT OF FEAR AND UNCERTAINTY 4266 03:00:19,640 --> 03:00:20,680 AS 6 YEARS OLD. 4267 03:00:20,680 --> 03:00:23,880 ALL THE APPOINTMENTS I WAS 17, 4268 03:00:23,880 --> 03:00:25,680 MY PARENTS WERE SIGNING THE 4269 03:00:25,680 --> 03:00:25,920 DOCUMENTS. 4270 03:00:25,920 --> 03:00:27,120 I WAS INVOLVED IN THE DISCUSSION 4271 03:00:27,120 --> 03:00:28,760 AND THINGS THAT LED UP TO IT BUT 4272 03:00:28,760 --> 03:00:31,520 NOT THE ONE SIGNING ALL THE 4273 03:00:31,520 --> 03:00:31,760 DOCUMENTS. 4274 03:00:31,760 --> 03:00:35,000 YET I SHOW UP ON THE DAY OF 4275 03:00:35,000 --> 03:00:36,720 SURGERY, SIX DAYS AFTER I TURN 4276 03:00:36,720 --> 03:00:40,160 18 AND I'M SUDDENLY RESPONSIBLE 4277 03:00:40,160 --> 03:00:41,600 FOR SIGNING MY LIFE AWAY FOR THE 4278 03:00:41,600 --> 03:00:42,800 FIRST TIME FOR A MEDICAL 4279 03:00:42,800 --> 03:00:43,160 PROCEDURE. 4280 03:00:43,160 --> 03:00:46,640 I WAS ALSO IN CHARGE OF MORE OF 4281 03:00:46,640 --> 03:00:49,480 MY CARE THAT DAY AND HAD A 4282 03:00:49,480 --> 03:00:50,640 COMPUTER SYSTEM KICK ME OUT OF 4283 03:00:50,640 --> 03:00:53,280 THE PEDIATRIC WING AND REASSIGN 4284 03:00:53,280 --> 03:00:54,560 ME TO THE ADULT WING BECAUSE OF 4285 03:00:54,560 --> 03:00:55,480 SIX DAYS. 4286 03:00:55,480 --> 03:00:59,360 I BECAME THE CAPTAIN OFFICIALLY 4287 03:00:59,360 --> 03:01:00,480 AT ONE OF THE MOST VULNERABLE 4288 03:01:00,480 --> 03:01:03,040 TIMES AS A HUMAN, BEFORE YOU GO 4289 03:01:03,040 --> 03:01:05,040 TO SURGERY. 4290 03:01:05,040 --> 03:01:05,920 IT WAS NOT READY. 4291 03:01:05,920 --> 03:01:07,960 THIS IS NOT HOW THE TRANSITION 4292 03:01:07,960 --> 03:01:09,920 SHOULD HAVE OCCURRED. 4293 03:01:09,920 --> 03:01:12,840 HOWEVER, DURING MY SURGERY 4294 03:01:12,840 --> 03:01:13,640 RECOVERY TIME BECAUSE I AM 4295 03:01:13,640 --> 03:01:14,680 SOMEONE THAT LIKES TO BE 4296 03:01:14,680 --> 03:01:16,880 PREPARED AND EDUCATED I TOOK IT 4297 03:01:16,880 --> 03:01:18,200 UPON MYSELF TO BECOME THE BEST 4298 03:01:18,200 --> 03:01:19,240 ADVOCATE I COULD AND BECOME THE 4299 03:01:19,240 --> 03:01:20,040 BEST CAPTAIN. 4300 03:01:20,040 --> 03:01:22,840 I WAS TAKING OVER A SHIP FILLED 4301 03:01:22,840 --> 03:01:24,880 WITH CHAOS IN ITS RANKS WHERE I 4302 03:01:24,880 --> 03:01:26,440 WANTED ORDER. 4303 03:01:26,440 --> 03:01:29,120 I USED MY VERY FRESH ADULT LEGAL 4304 03:01:29,120 --> 03:01:30,760 POWERS TO REQUEST ALL MY 4305 03:01:30,760 --> 03:01:32,200 CHILDHOOD MEDICAL RECORDS FROM 4306 03:01:32,200 --> 03:01:34,400 ALL MY INSTITUTIONS AND STARTED 4307 03:01:34,400 --> 03:01:35,520 ORGANIZING THEM AND GATHERING 4308 03:01:35,520 --> 03:01:36,440 THEM TO FULLY UNDERSTAND 4309 03:01:36,440 --> 03:01:38,880 EVERYTHING I HAD BEEN THROUGH AS 4310 03:01:38,880 --> 03:01:40,040 A KID. 4311 03:01:40,040 --> 03:01:41,480 WITHIN THIS CHAOS THE TRANSITION 4312 03:01:41,480 --> 03:01:43,400 WAS NATURALLY ROCKY. 4313 03:01:43,400 --> 03:01:45,600 THERE'S NO WAY IT COULD HAVE 4314 03:01:45,600 --> 03:01:48,000 GONE SMOOTHLY. 4315 03:01:48,000 --> 03:01:50,840 BECAUSE CLASSICAL EDS AFFECTS SO 4316 03:01:50,840 --> 03:01:53,400 MANY BODY SYSTEMS I'VE SEEN A 4317 03:01:53,400 --> 03:01:55,600 LOT OF SPECIALISTS OVER THE 4318 03:01:55,600 --> 03:01:55,840 YEARS. 4319 03:01:55,840 --> 03:01:58,040 SOME INCONSISTENTLY AND SOME 4320 03:01:58,040 --> 03:01:58,320 ANNUALLY. 4321 03:01:58,320 --> 03:02:03,680 BECAUSE I DIDN'T KNOW WHAT ELSE 4322 03:02:03,680 --> 03:02:05,960 TO DO MY SYSTEM BECAME 4323 03:02:05,960 --> 03:02:07,360 INTOLERABLE ENOUGH TO SEEK OUT 4324 03:02:07,360 --> 03:02:07,680 CARE. 4325 03:02:07,680 --> 03:02:10,760 AT THAT POINT I BLINDLY PICKED A 4326 03:02:10,760 --> 03:02:11,640 SPECIALIST FROM GOOGLE AND START 4327 03:02:11,640 --> 03:02:16,200 THE PROCESS ALL OVER AGAIN. 4328 03:02:16,200 --> 03:02:19,680 I SLOWLY BUILT UP MY ENTIRE 4329 03:02:19,680 --> 03:02:21,400 HEALTH CARE SYSTEM THIS WAY. 4330 03:02:21,400 --> 03:02:22,920 DIDN'T ALWAYS GO WELL AND ALSO 4331 03:02:22,920 --> 03:02:26,480 MEANT I RE-EXPLAINED MY 4332 03:02:26,480 --> 03:02:27,040 CONDITION A LOT. 4333 03:02:27,040 --> 03:02:29,240 I HAD A LOT BAD APPOINTMENTS. 4334 03:02:29,240 --> 03:02:30,480 I TRIED MULTIPLE SPECIALISTS TO 4335 03:02:30,480 --> 03:02:32,720 GET TO PLACES. 4336 03:02:32,720 --> 03:02:43,280 I WAS MET WITH BLANK STARES WHEN 4337 03:02:47,320 --> 03:02:47,880 MY CONDITION WAS NAMED AND GOT 4338 03:02:47,880 --> 03:02:48,280 UNHELPFUL RESULTS. 4339 03:02:48,280 --> 03:02:48,840 BUT IT ALSO MEANT THAT I -- 4340 03:02:48,840 --> 03:02:53,600 [NO AUDIO] 4341 03:02:53,600 --> 03:02:55,640 I WAS A FRESH ADULT DOING MY 4342 03:02:55,640 --> 03:02:59,200 BEST. 4343 03:02:59,200 --> 03:03:01,080 THIS IS HOW A LOT OF YOUNG 4344 03:03:01,080 --> 03:03:03,480 PATIENT'S TRANSITIONS GO AND I 4345 03:03:03,480 --> 03:03:05,480 HOPE AS WE CONTINUE DIALOGUE 4346 03:03:05,480 --> 03:03:06,720 LIKE TODAY WE ARE GOING TO BE 4347 03:03:06,720 --> 03:03:11,680 ABLE TO CHANGE HOW WE INTERACT 4348 03:03:11,680 --> 03:03:13,560 WITH THIS IN THE FUTURE. 4349 03:03:13,560 --> 03:03:15,400 IF THERE AREN'T COORDINATED 4350 03:03:15,400 --> 03:03:18,480 CLINICS OR OTHER AVENUES OF 4351 03:03:18,480 --> 03:03:20,920 SUPPORT, A LOT OF MEDICAL CARE 4352 03:03:20,920 --> 03:03:22,320 CAN GO NEGLECTED WHEN THE 4353 03:03:22,320 --> 03:03:25,880 PATIENT BECOMES THE CAPTAIN. 4354 03:03:25,880 --> 03:03:29,200 I WISH HAD ALL THE ANSWERS. 4355 03:03:29,200 --> 03:03:32,520 BUT I KNOW MY PERSONALITY AND 4356 03:03:32,520 --> 03:03:34,520 INNATE DRIVE SAVED ME BUT I'M 4357 03:03:34,520 --> 03:03:35,840 LUCKY I AM WHO I AM. 4358 03:03:35,840 --> 03:03:40,680 I BELIEVE A PATIENTS'S 4359 03:03:40,680 --> 03:03:42,280 PERSONALITY SHOULD NOT DETERMINE 4360 03:03:42,280 --> 03:03:43,880 THEIR OUTCOME. 4361 03:03:43,880 --> 03:03:45,320 JUST BECAUSE THIS HAPPENED GOING 4362 03:03:45,320 --> 03:03:48,360 FORWARD I THINK AS WE CONTINUE 4363 03:03:48,360 --> 03:03:49,320 IMPROVING OUR DIALOGUE THESE ARE 4364 03:03:49,320 --> 03:03:51,480 SOME THINGS THAT I THINK COULD 4365 03:03:51,480 --> 03:03:54,560 HAVE HELPED ME WHEN I BECAME THE 4366 03:03:54,560 --> 03:03:54,760 CAPTAIN. 4367 03:03:54,760 --> 03:03:56,520 SOME THINGS TO HELP A CHILD 4368 03:03:56,520 --> 03:03:57,440 WOULD BE TO EDUCATE THEM EARLY 4369 03:03:57,440 --> 03:04:00,720 AND OFTEN IN THEIR CONDITION 4370 03:04:00,720 --> 03:04:02,880 ESPECIALLY AS THEY GROW OLDER 4371 03:04:02,880 --> 03:04:05,040 AND YOU CHANGE THE DIALOGUE AT 4372 03:04:05,040 --> 03:04:06,800 AGE-APPROPRIATE LEVELS. 4373 03:04:06,800 --> 03:04:08,920 STARTING THE PROCESS EARLY IS 4374 03:04:08,920 --> 03:04:11,640 VERY IMPORTANT BECAUSE IT LE%S 4375 03:04:11,640 --> 03:04:12,960 THE PROCESS STAY ON THE MINDS OF 4376 03:04:12,960 --> 03:04:14,800 THE PARENTS AND PATIENTS AS THEY 4377 03:04:14,800 --> 03:04:19,640 GO THROUGH PRETEEN TO TEENAGER 4378 03:04:19,640 --> 03:04:22,200 AND BEYOND. 4379 03:04:22,200 --> 03:04:23,640 ALSO BE PREPARED TO WHAT WILL 4380 03:04:23,640 --> 03:04:25,440 CHANGE IN YOUR CLINIC WHEN YOU 4381 03:04:25,440 --> 03:04:26,160 TURN 18. 4382 03:04:26,160 --> 03:04:27,640 SOMETIMES IT'S JUST YOU'RE 4383 03:04:27,640 --> 03:04:29,960 SIGNING THE LEGAL DOCUMENT. 4384 03:04:29,960 --> 03:04:31,640 THE CARE MAY NOT CHANGE UNTIL 4385 03:04:31,640 --> 03:04:35,640 YOUR 23, 24, 26 BUT IT'S 4386 03:04:35,640 --> 03:04:38,080 DIFFERENT FOR EVERY CLINIC SO BE 4387 03:04:38,080 --> 03:04:39,560 PREPARED SO YOU'RE NOT 4388 03:04:39,560 --> 03:04:41,640 BLINDSIDED LIKE I WAS SIX DAYS 4389 03:04:41,640 --> 03:04:46,160 BEFORE I TURNED 18. 4390 03:04:46,160 --> 03:04:47,240 PEDIATRIC PROVIDERS KNOW SOMEONE 4391 03:04:47,240 --> 03:04:49,080 TO RECOMMEND OR WORK WITH THEM 4392 03:04:49,080 --> 03:04:50,280 IN THIS TRANSITION. 4393 03:04:50,280 --> 03:04:54,280 AND PARENTS, THIS ONE'S TRICKIER 4394 03:04:54,280 --> 03:04:57,240 BUT FOLLOW YOUR CHILD'S 4395 03:04:57,240 --> 03:04:59,720 LEADERSHIP STYLE ONCE THEY TAKE 4396 03:04:59,720 --> 03:05:00,360 OVER AS CAPTAIN. 4397 03:05:00,360 --> 03:05:01,280 IT'S THEIR BOAT NOW. 4398 03:05:01,280 --> 03:05:03,560 THEY'RE IN CHARGE AND THEY GET 4399 03:05:03,560 --> 03:05:05,960 TO CHOOSE WHAT POSITION YOU HAVE 4400 03:05:05,960 --> 03:05:07,640 IN THIS ROLE. 4401 03:05:07,640 --> 03:05:09,200 RESPECT THIS. 4402 03:05:09,200 --> 03:05:11,440 AND LASTLY REMEMBER THERE'S NO 4403 03:05:11,440 --> 03:05:12,240 RIGHT WAY TO TRANSITION HEALTH 4404 03:05:12,240 --> 03:05:12,480 CARE. 4405 03:05:12,480 --> 03:05:14,880 WE'RE NOT TRYING TO FIND THE ONE 4406 03:05:14,880 --> 03:05:15,160 STANDARD. 4407 03:05:15,160 --> 03:05:16,440 WE'RE JUST TRYING TO FIND WAYS 4408 03:05:16,440 --> 03:05:18,760 THAT ARE BENEFITING MANY 4409 03:05:18,760 --> 03:05:22,240 PATIENTS AND AVOIDING THESE 4410 03:05:22,240 --> 03:05:23,480 UNHELPFUL WAYS THAT HAVE LASTING 4411 03:05:23,480 --> 03:05:24,960 NEGATIVE HEALTH IMPLICATIONS FOR 4412 03:05:24,960 --> 03:05:25,720 PARENTS. 4413 03:05:25,720 --> 03:05:27,840 BECOMING THE CAPTAIN OF YOUR 4414 03:05:27,840 --> 03:05:29,280 RARE DISEASE BOAT DOESN'T NEED 4415 03:05:29,280 --> 03:05:30,880 TO BE AN EXPERIENCE FILLED WITH 4416 03:05:30,880 --> 03:05:32,480 FEAR AND UNCERTAINTY LIKE MINE 4417 03:05:32,480 --> 03:05:32,680 DOES. 4418 03:05:32,680 --> 03:05:35,520 WE CAN HELP THE KIDS OF THE 4419 03:05:35,520 --> 03:05:37,400 FUTURE BECOME STRONG LEADERS IN 4420 03:05:37,400 --> 03:05:38,760 THEIR CARE AND IT'S DISCUSSIONS 4421 03:05:38,760 --> 03:05:39,600 LIKE THESE WE'RE HAVING TODAY 4422 03:05:39,600 --> 03:05:42,040 THAT ARE GOING TO MAKE THAT 4423 03:05:42,040 --> 03:05:42,280 HAPPEN. 4424 03:05:42,280 --> 03:05:52,440 THANK YOU. 4425 03:06:04,720 --> 03:06:06,720 >> I CAN BE CONTACTED AT ANY OF 4426 03:06:06,720 --> 03:06:08,120 THESE PLACES. 4427 03:06:08,120 --> 03:06:10,200 I'M ALWAYS WILLING TO CHAT BUT 4428 03:06:10,200 --> 03:06:13,640 WE HAVE A BIT OF TIME IF ANYONE 4429 03:06:13,640 --> 03:06:23,960 HAS ANY QUESTIONS. 4430 03:06:36,840 --> 03:06:46,960 [OFF MIC] 4431 03:07:26,760 --> 03:07:27,720 >> GOOD QUESTION. 4432 03:07:27,720 --> 03:07:29,360 FOR WHATEVER REASON, AGE 12 4433 03:07:29,360 --> 03:07:30,640 STANDS OUT TO ME. 4434 03:07:30,640 --> 03:07:31,560 THERE'S NO SCIENTIFIC DATA 4435 03:07:31,560 --> 03:07:34,600 BEHIND IT BUT I THINK IT'S YOUNG 4436 03:07:34,600 --> 03:07:38,960 ENOUGH YEAR STARTING TO ENGAGE 4437 03:07:38,960 --> 03:07:41,280 THAT EVENTUALLY YOU'LL BE IN 4438 03:07:41,280 --> 03:07:44,920 CHARGE OF YOUR HEALTH CARE AND 4439 03:07:44,920 --> 03:07:45,440 BE IN AN APPOINTMENT -- 4440 03:07:45,440 --> 03:07:55,600 [OFF MIC] 4441 03:08:07,720 --> 03:08:12,880 >> ARE WE GOOD? 4442 03:08:12,880 --> 03:08:18,240 [OFF MIC] 4443 03:08:18,240 --> 03:08:21,000 >> ABBEY THANK YOU SO MUCH FOR 4444 03:08:21,000 --> 03:08:30,120 BEING UP THERE RIGHT NOW. 4445 03:08:30,120 --> 03:08:56,360 >> WE'LL LET AV FIGURE THAT OUT 4446 03:08:56,360 --> 03:08:58,360 >> OUR NEXT SPEAKERS YOU CAN SEE 4447 03:08:58,360 --> 03:09:00,360 THE TITLE OF THE TALK AS WELL AS 4448 03:09:00,360 --> 03:09:04,400 SOME OF THEIR CREDENTIALS AND IT 4449 03:09:04,400 --> 03:09:09,680 WILL BE UNIQUE IN THAT THEY'RE 4450 03:09:09,680 --> 03:09:11,640 PROVIDING A PROVIDER AND PATIENT 4451 03:09:11,640 --> 03:09:22,160 PERSPECTIVE AND WELCOME CARY 4452 03:09:25,240 --> 03:09:27,800 HARDING AND BRITTANY HOLMES. 4453 03:09:27,800 --> 03:09:30,200 >> I'M A PEDIATRICIAN IN 4454 03:09:30,200 --> 03:09:34,240 CLINICAL AND MOLECULAR BIO 4455 03:09:34,240 --> 03:09:37,560 CHEMICAL GENETICIST IN PORTLAND, 4456 03:09:37,560 --> 03:09:41,960 OREGON AND AN INVESTIGATOR FOR A 4457 03:09:41,960 --> 03:09:44,800 CONSORTIUM THAT MOSTLY 4458 03:09:44,800 --> 03:09:49,160 CONCENTRATES ON PKU THAT CAUSES 4459 03:09:49,160 --> 03:09:51,560 ELEVATED BLOOD PHENYLALANINE AND 4460 03:09:51,560 --> 03:09:54,920 JOINED BY BRITTANY HARDING IS A 4461 03:09:54,920 --> 03:09:57,920 UNIQUE RARE DISEASE PATIENT AND 4462 03:09:57,920 --> 03:09:58,240 PRACTITIONER. 4463 03:09:58,240 --> 03:10:00,840 SHE HAS MORE EXPERTISE SO I'LL 4464 03:10:00,840 --> 03:10:02,440 RACE THROUGH MY PART AND LET HER 4465 03:10:02,440 --> 03:10:04,640 GIVE YOU HER PERSPECTIVE. 4466 03:10:04,640 --> 03:10:06,840 WE HAVE DISCLOSURES MOSTLY IN 4467 03:10:06,840 --> 03:10:09,920 REGARD TO NOVEL THERAPIES FOR 4468 03:10:09,920 --> 03:10:20,360 MOSTLY PHENYLALANINE UREA 4469 03:10:22,160 --> 03:10:22,360 DISORDERS. 4470 03:10:22,360 --> 03:10:24,000 WE'LL TALK FROM THE PERSPECTIVE 4471 03:10:24,000 --> 03:10:27,560 OF PROVIDER AND PATIENTS AND 4472 03:10:27,560 --> 03:10:28,360 DISCUSS IMPROVING THE 4473 03:10:28,360 --> 03:10:28,640 TRANSITION. 4474 03:10:28,640 --> 03:10:30,240 WE DON'T HAVE MIRACLE ANSWERS TO 4475 03:10:30,240 --> 03:10:40,520 THOSE QUESTIONS. 4476 03:10:55,400 --> 03:10:59,800 ONE OF THE ISSUES WE HAVE IS 4477 03:10:59,800 --> 03:11:00,920 THAT THERE ISN'T TRANSITION FOR 4478 03:11:00,920 --> 03:11:03,800 OUT OF MY CLINIC BUT THEY DO 4479 03:11:03,800 --> 03:11:06,240 HAVE TRANSITIONS STILL THAT WE 4480 03:11:06,240 --> 03:11:14,560 NEED TO BE COGNIZANT OF. 4481 03:11:14,560 --> 03:11:17,200 I HAVE TO CONSTANTLY REMIND 4482 03:11:17,200 --> 03:11:18,320 MYSELF THEY'RE BECOMING ADULTS 4483 03:11:18,320 --> 03:11:19,600 AND WE HAVE TO BE REMINDED 4484 03:11:19,600 --> 03:11:21,480 THEY'RE TRANSITIONS WE NEED TO 4485 03:11:21,480 --> 03:11:25,320 DID EVEN THOUGH THEY'RE STILL 4486 03:11:25,320 --> 03:11:25,880 COMING FROM THE PEDIATRIC 4487 03:11:25,880 --> 03:11:30,720 CHILDREN'S HOSPITAL. 4488 03:11:30,720 --> 03:11:33,240 AND THERE ARE CHALLENGES AS A 4489 03:11:33,240 --> 03:11:38,280 PROVIDER I HAVE TO REMAIN 4490 03:11:38,280 --> 03:11:43,600 COGNIZANT OF AS THE ADOLESCENT 4491 03:11:43,600 --> 03:11:45,240 BECOMES INDEPENDENT THEY HAVE TO 4492 03:11:45,240 --> 03:11:50,000 FACE THESE CHALLENGE. 4493 03:11:50,000 --> 03:11:53,200 FROM A PROVIDER PERSPECTIVE, I 4494 03:11:53,200 --> 03:11:55,080 AS A PEDIATRIC THOUGH I'M 4495 03:11:55,080 --> 03:11:57,400 TRAINED AS A GENETICIST AND THAT 4496 03:11:57,400 --> 03:12:00,400 HANDLES THE LIFE SPAN I DON'T 4497 03:12:00,400 --> 03:12:02,040 UNDERSTAND A LOT OF ADULT ONSET 4498 03:12:02,040 --> 03:12:03,440 DISEASE AND I NEED HELP AS 4499 03:12:03,440 --> 03:12:05,520 PATIENTS BECOME ADULTS AND START 4500 03:12:05,520 --> 03:12:07,400 HAVING ADULT ONSET DISORDERS AND 4501 03:12:07,400 --> 03:12:12,400 HAVE TO RELY ON ADULT MEDICINE 4502 03:12:12,400 --> 03:12:14,880 COLLEAGUES AND I HONESTLY DON'T 4503 03:12:14,880 --> 03:12:16,560 KNOW THE ADULT COLLEAGUES THOUGH 4504 03:12:16,560 --> 03:12:19,040 MY INSTITUTION IS EMBEDDED 4505 03:12:19,040 --> 03:12:22,040 WITHIN A LARGER MEDICAL CENTER 4506 03:12:22,040 --> 03:12:24,880 AND I DON'T HAVE AS GOOD AS 4507 03:12:24,880 --> 03:12:26,040 CONNECTIONS WITH MY ADULT 4508 03:12:26,040 --> 03:12:27,280 COLLEAGUES SO THAT'S A BIT OF A 4509 03:12:27,280 --> 03:12:30,240 PROBLEM FOR ME AND IF I NEED SUB 4510 03:12:30,240 --> 03:12:37,840 SPECIALITY THERE'S LIKE 30 REF 4511 03:12:37,840 --> 03:12:40,000 NEPHROLOGISTS AND I DON'T HAVE 4512 03:12:40,000 --> 03:12:41,160 THE SAME CONNECTION IN THE 4513 03:12:41,160 --> 03:12:43,440 PEDIATRIC WORLD AS ADULT WORLD 4514 03:12:43,440 --> 03:12:44,240 SO THAT'S AN ISSUE. 4515 03:12:44,240 --> 03:12:46,600 I DON'T HAVE PRIVILEGES TO THE 4516 03:12:46,600 --> 03:12:47,440 ADULT HOSPITAL. 4517 03:12:47,440 --> 03:12:50,000 I NEED ASSISTANCE WITH THE 4518 03:12:50,000 --> 03:12:51,600 HOSPITAL SERVICE IF ONE OF MY 4519 03:12:51,600 --> 03:12:54,040 ADULT PATIENTS NEEDS TO BE 4520 03:12:54,040 --> 03:12:56,480 ADMITTED AND OVER ALL I HAVE 4521 03:12:56,480 --> 03:12:58,240 DIFFICULTY COORDINATING OUT 4522 03:12:58,240 --> 03:13:01,600 PATIENT CARE FOR MY ADULT 4523 03:13:01,600 --> 03:13:11,760 PATIENTS. 4524 03:13:28,040 --> 03:13:29,840 AND LOOKING AT THIS FROM THE 4525 03:13:29,840 --> 03:13:30,360 ADULT WORD I FIND TO BE 4526 03:13:30,360 --> 03:13:40,560 CHALLENGING. 4527 03:13:41,720 --> 03:13:44,480 >> I'M A PATIENT WITH A RARE 4528 03:13:44,480 --> 03:13:46,960 DISEASE BUT UNFORTUNATE TO NOW 4529 03:13:46,960 --> 03:13:48,400 BE A PROVIDER IN THE SAME PLACE 4530 03:13:48,400 --> 03:13:50,880 I WAS DIAGNOSED AND WHERE I GOT 4531 03:13:50,880 --> 03:13:53,400 CARE MOST OF MY LIFE. 4532 03:13:53,400 --> 03:13:55,600 I'VE BEEN ABLE TO SEE THE SYSTEM 4533 03:13:55,600 --> 03:13:56,560 FROM BOTH SIDES. 4534 03:13:56,560 --> 03:14:00,040 JUST A LITTLE BIT MORE ABOUT THE 4535 03:14:00,040 --> 03:14:01,440 PROVIDER PERSPECTIVE BEFORE I GO 4536 03:14:01,440 --> 03:14:03,960 ON TO THE PATIENT PERSPECTIVE. 4537 03:14:03,960 --> 03:14:05,680 WE HAVE A LITTLE BIT DIFFERENT 4538 03:14:05,680 --> 03:14:07,600 PERSPECTIVES BECAUSE I'M IN A 4539 03:14:07,600 --> 03:14:08,280 FREE-STANDING CHILDREN'S 4540 03:14:08,280 --> 03:14:08,520 HOSPITAL. 4541 03:14:08,520 --> 03:14:11,840 I DON'T HAVE ACCESS TO ADULT 4542 03:14:11,840 --> 03:14:13,680 PROVIDERS OR ADULT HOSPITAL IN 4543 03:14:13,680 --> 03:14:15,840 OUR DIRECT SYSTEM. 4544 03:14:15,840 --> 03:14:18,240 SO THAT CAN DEFINITELY MAKE IT 4545 03:14:18,240 --> 03:14:20,040 CHALLENGES AS YOU CAN IMAGINE. 4546 03:14:20,040 --> 03:14:22,240 SOME OF THE ISSUES ARE 4547 03:14:22,240 --> 03:14:22,520 REFERRALS. 4548 03:14:22,520 --> 03:14:25,680 IF I HAVE A PATIENT THAT WE NEED 4549 03:14:25,680 --> 03:14:27,000 TO SEE ANOTHER SPECIALIST AND 4550 03:14:27,000 --> 03:14:31,600 THEY'RE AN ADULT WE DON'T HAVE 4551 03:14:31,600 --> 03:14:35,200 ADULT ENDOCRINOLOGY OR OTHER 4552 03:14:35,200 --> 03:14:36,200 SPECIALISTS IN THE HOSPITAL. 4553 03:14:36,200 --> 03:14:37,960 WE HAVE TO HAVE THEM ASK FOR A 4554 03:14:37,960 --> 03:14:39,080 PRIMARY CARE FOR A REFERRAL TO 4555 03:14:39,080 --> 03:14:39,520 THE HOSPITAL. 4556 03:14:39,520 --> 03:14:40,160 THERE'S LOTS OF HOSPITALS IN THE 4557 03:14:40,160 --> 03:14:49,560 AREA. 4558 03:14:49,560 --> 03:14:52,360 WE HAVE THE ISSUE OF HAVING TO 4559 03:14:52,360 --> 03:14:52,840 ADMIT PATIENTS. 4560 03:14:52,840 --> 03:14:54,240 WE'RE A PEDIATRIC HOSPITAL AND 4561 03:14:54,240 --> 03:14:57,160 WERE ADMITTING ADULTS TO THE 4562 03:14:57,160 --> 03:15:02,200 PEED RICK HOSPITAL BUT THERE'S 4563 03:15:02,200 --> 03:15:03,760 DIFFERENT ADULT CHALLENGES THE 4564 03:15:03,760 --> 03:15:05,640 PEDIATRIC FLOORS WERE NOT 4565 03:15:05,640 --> 03:15:07,360 EQUIPPED TO DEAL WITH AND IT 4566 03:15:07,360 --> 03:15:08,800 BECAME A PROBLEM AND TRYING TO 4567 03:15:08,800 --> 03:15:10,480 ADMIT THEM TO A HOSPITAL THAT 4568 03:15:10,480 --> 03:15:12,600 CAN TAKE CARE OF THE ADULT 4569 03:15:12,600 --> 03:15:14,240 CONCERNS AND THE CHALLENGE IS 4570 03:15:14,240 --> 03:15:15,400 ALSO PROVIDING THEIR RARE 4571 03:15:15,400 --> 03:15:20,800 DISEASE CARE REMOTELY OR BY 4572 03:15:20,800 --> 03:15:25,640 PHONE IF THERE'S NO PROVIDER 4573 03:15:25,640 --> 03:15:30,200 THERE AND FOR ME I'M UNABLE TO 4574 03:15:30,200 --> 03:15:31,360 ORDER TESTING. 4575 03:15:31,360 --> 03:15:33,400 I CAN ORDER LABS BUT IF I HAVE 4576 03:15:33,400 --> 03:15:39,440 PATIENTS I FOLLOW PART OF THEIR 4577 03:15:39,440 --> 03:15:41,280 RARE DISEASE MONITORING WE CAN 4578 03:15:41,280 --> 03:15:44,520 NO LONGER IMAGING ON ADULTS 4579 03:15:44,520 --> 03:15:46,800 THAT'S SOMETHING I'D ALSO HAVE 4580 03:15:46,800 --> 03:15:48,920 TO ASK TO REQUEST THEIR PCP TO 4581 03:15:48,920 --> 03:15:50,680 DO ANOTHER REFERRAL. 4582 03:15:50,680 --> 03:15:56,760 THAT CAN MAKE THINGS FRAGMENTED. 4583 03:15:56,760 --> 03:15:58,360 PATIENTS CARE IN DIFFERENT 4584 03:15:58,360 --> 03:15:58,600 CENTERS. 4585 03:15:58,600 --> 03:16:00,000 SOMETIMES WE DON'T GET THE NOTES 4586 03:16:00,000 --> 03:16:01,600 BACK OR SOMETIMES IT'S DELAYED. 4587 03:16:01,600 --> 03:16:04,080 THAT CAN PRESENT DIFFERENT 4588 03:16:04,080 --> 03:16:05,080 CHALLENGES ESPECIALLY OF TRYING 4589 03:16:05,080 --> 03:16:06,240 TO MANAGE PATIENTS WITH COMPLEX 4590 03:16:06,240 --> 03:16:16,360 NEEDS. 4591 03:16:17,680 --> 03:16:19,000 THERE'S BEEN PROTOCOLS AND I'LL 4592 03:16:19,000 --> 03:16:22,920 USE PKU AS A BIG EXAMPLE BECAUSE 4593 03:16:22,920 --> 03:16:24,840 THAT'S THE RARE DISEASE I HAVE 4594 03:16:24,840 --> 03:16:35,160 BUT WITH PKU REQUIRES RESTRICTED 4595 03:16:35,160 --> 03:16:36,640 FOOD AND FORMULA AND THERE ISN'T 4596 03:16:36,640 --> 03:16:39,920 A GREAT PROTOCOL OF WHEN SHOULD 4597 03:16:39,920 --> 03:16:40,800 THESE CHILDREN BEING ABLE TO MIX 4598 03:16:40,800 --> 03:16:43,640 THEIR FORMULA ON THEIR OWN. 4599 03:16:43,640 --> 03:16:48,440 WHEN SHOULD THEY BE ABLE TO DO 4600 03:16:48,440 --> 03:16:51,960 X, Y, Z ON THEIR OWN AND MAKE 4601 03:16:51,960 --> 03:16:55,040 THEIR FOOD AND THERE'S NOT MUCH 4602 03:16:55,040 --> 03:16:55,280 GUIDANCE. 4603 03:16:55,280 --> 03:16:58,280 IT VARIES FROM CLINIC TO CLINIC. 4604 03:16:58,280 --> 03:16:59,760 THERE'S NOT CONSISTENCY OR 4605 03:16:59,760 --> 03:17:00,720 GUIDANCE AND LATER WE'LL TALK 4606 03:17:00,720 --> 03:17:05,480 ABOUT THE PATIENT PERSPECTIVE. 4607 03:17:05,480 --> 03:17:06,960 THERE'S ALSO INADEQUATE 4608 03:17:06,960 --> 03:17:13,000 RESOURCES FOR YOUNG ADULTADULTS. 4609 03:17:13,000 --> 03:17:17,080 A LOT OF PATIENTS WE HAVE NEURO 4610 03:17:17,080 --> 03:17:17,960 COGNITIVE DEFICITS AND WE'RE 4611 03:17:17,960 --> 03:17:19,280 EXPECTING THEM TO REMEMBER ALL 4612 03:17:19,280 --> 03:17:21,040 THESE THINGS WHEN THEY HAVE A 4613 03:17:21,040 --> 03:17:22,240 LOT OF DIFFERENT SPECIALISTS 4614 03:17:22,240 --> 03:17:23,800 THEY HAVE TO SEE OR THINGS TO DO 4615 03:17:23,800 --> 03:17:25,680 FOR THEIR CARE AND THERE'S JUST 4616 03:17:25,680 --> 03:17:28,280 NOT A LOT OF WRITTEN RESOURCES 4617 03:17:28,280 --> 03:17:29,280 FOR THINGS LIKE THAT. 4618 03:17:29,280 --> 03:17:31,920 IT VARIES CLINIC TO CLINIC. 4619 03:17:31,920 --> 03:17:33,960 SOME DEVELOPED THEIR OWN BUT 4620 03:17:33,960 --> 03:17:34,680 THERE'S REALLY NOTHING THAT'S 4621 03:17:34,680 --> 03:17:37,200 BEEN DEVELOPED THAT CAN BE GIVEN 4622 03:17:37,200 --> 03:17:38,600 TO PATIENTS AND BE CONSISTENT 4623 03:17:38,600 --> 03:17:40,520 MESSAGING. 4624 03:17:40,520 --> 03:17:42,840 AND THE SUPPORT RESOURCES TOO. 4625 03:17:42,840 --> 03:17:44,520 I'VE SEEN ADULT PATIENTS 4626 03:17:44,520 --> 03:17:45,960 STRUGGLE WITH AFFORDING A 4627 03:17:45,960 --> 03:17:47,440 MEDICATION AND THERE WAS SUPPORT 4628 03:17:47,440 --> 03:17:49,600 SERVICES BUT FOR PEDIATRICS BUT 4629 03:17:49,600 --> 03:17:50,560 NOT FOR ADULT. 4630 03:17:50,560 --> 03:17:52,560 SOMETIMES WE DON'T HAVE AS MANY 4631 03:17:52,560 --> 03:17:54,240 OPTIONS FOR THE SUPPORT SERVICES 4632 03:17:54,240 --> 03:17:55,840 ONCE PATIENTS GET IN THE ADULT 4633 03:17:55,840 --> 03:18:05,920 STAGE. 4634 03:18:05,920 --> 03:18:08,480 THE TRANSITION CAN BE DIFFICULT. 4635 03:18:08,480 --> 03:18:10,760 WHEN PATIENTS TURN 18 WE HAVE TO 4636 03:18:10,760 --> 03:18:13,600 GET RELEASE FORMS TO DISCUSS 4637 03:18:13,600 --> 03:18:14,880 THINGS WITH PARENTS AND MANY 4638 03:18:14,880 --> 03:18:16,440 PARENTS AT THIS STAGE ARE STILL 4639 03:18:16,440 --> 03:18:17,320 DOING MAJORITY OF THE CARE AND 4640 03:18:17,320 --> 03:18:19,200 THIS COULD BE CHALLENGING TO 4641 03:18:19,200 --> 03:18:21,520 MAKE SURE THE PATIENT 4642 03:18:21,520 --> 03:18:24,440 UNDERSTANDING ALL THIS IF THE 4643 03:18:24,440 --> 03:18:26,240 PATIENTS ARE DOING MOST THE 4644 03:18:26,240 --> 03:18:29,800 TALKING AT THE VISIT AND ON THE 4645 03:18:29,800 --> 03:18:30,080 PHONE. 4646 03:18:30,080 --> 03:18:34,080 WITH PATIENTS WITH 4647 03:18:34,080 --> 03:18:35,480 NEURODEVELOPMENT DISABILITY OR 4648 03:18:35,480 --> 03:18:36,440 COGNITIVE DEFICITS AND IN 4649 03:18:36,440 --> 03:18:37,400 ADDITION TO OTHER THINGS WE 4650 03:18:37,400 --> 03:18:39,520 TALKED ABOUT IS THE NEED FOR 4651 03:18:39,520 --> 03:18:39,760 CONCEPT. 4652 03:18:39,760 --> 03:18:43,080 WHEN WE HAVE TREATMENT OPTION OR 4653 03:18:43,080 --> 03:18:45,960 IMAGING OR THINGS LIKE THAT 4654 03:18:45,960 --> 03:18:47,480 WE'RE NAVIGATING THIS 4655 03:18:47,480 --> 03:18:49,600 CHALLENGING TIME OF CONSENT IF 4656 03:18:49,600 --> 03:18:51,880 THERE'S NO APPROPRIATE 4657 03:18:51,880 --> 03:18:53,680 GUARDIANSHIP OR CONSERVATORSHIP 4658 03:18:53,680 --> 03:18:54,000 IN PLACE. 4659 03:18:54,000 --> 03:18:55,600 THAT'S ONE DIFFICULT THING TO 4660 03:18:55,600 --> 03:18:57,360 MAKE SURE IS DONE WITHOUT 4661 03:18:57,360 --> 03:18:58,320 DELAYING CARE AND HAVING THE 4662 03:18:58,320 --> 03:18:59,720 CONVERSATION CAN BE DIFFICULT. 4663 03:18:59,720 --> 03:19:04,840 WE'RE FORTUNATE TO HAVE SOCIAL 4664 03:19:04,840 --> 03:19:15,360 WORK BUT NOT EVERY PATIENT HAS 4665 03:19:15,680 --> 03:19:16,400 THIS. 4666 03:19:16,400 --> 03:19:18,240 ADULT MOTIVATION IS ANOTHER 4667 03:19:18,240 --> 03:19:21,920 THING. 4668 03:19:21,920 --> 03:19:24,120 PARENTS ARE DOING A LOT OF THE 4669 03:19:24,120 --> 03:19:26,520 MANAGING BUT IN RARE DISEASE WE 4670 03:19:26,520 --> 03:19:27,920 HAVE A LOT OF OUR DISORDERS 4671 03:19:27,920 --> 03:19:30,040 DON'T HAVE GREAT TREATMENTS. 4672 03:19:30,040 --> 03:19:32,240 AGAIN I'LL USE PKU AS AN 4673 03:19:32,240 --> 03:19:32,520 EXAMPLE. 4674 03:19:32,520 --> 03:19:34,800 THE DATA SHOWED 88% OF ADULTS 4675 03:19:34,800 --> 03:19:37,320 ARE UNABLE TO ADHERE TO THEIR 4676 03:19:37,320 --> 03:19:38,000 RESTRICTED DIET. 4677 03:19:38,000 --> 03:19:39,680 WE COME TO THE ISSUE OF WHEN 4678 03:19:39,680 --> 03:19:41,600 THEY GET TO ADULTHOOD THEY SAY 4679 03:19:41,600 --> 03:19:43,280 IF I CAN'T MAINTAIN THIS, WHAT'S 4680 03:19:43,280 --> 03:19:45,040 THE POINT OF COMING TO CLINIC 4681 03:19:45,040 --> 03:19:46,520 AND WE HAVE A LARGE POPULATION 4682 03:19:46,520 --> 03:19:47,920 OF WHAT WE CALL LOSS TO 4683 03:19:47,920 --> 03:19:48,200 FOLLOW-UP. 4684 03:19:48,200 --> 03:19:49,880 WE DON'T HAVE ADULTS BECAUSE 4685 03:19:49,880 --> 03:19:51,200 IT'S HARD TO KEEP THEM MOTIVATED 4686 03:19:51,200 --> 03:19:54,160 TO STAY IN CLINIC IF THEY DON'T 4687 03:19:54,160 --> 03:19:57,960 FEEL THEY HAVE PROPER TREATMENT 4688 03:19:57,960 --> 03:19:58,200 OPTIONS. 4689 03:19:58,200 --> 03:20:01,320 SO BACK TO OUR PATIENT 4690 03:20:01,320 --> 03:20:01,600 PERSPECTIVE. 4691 03:20:01,600 --> 03:20:05,920 SO THE FACT THERE'S REALLY FEW 4692 03:20:05,920 --> 03:20:07,240 ADULT MEDICINE TRAINED 4693 03:20:07,240 --> 03:20:08,520 SPECIALISTS CAN BE DIFFICULT 4694 03:20:08,520 --> 03:20:09,840 FROM THE PROVIDER SIDE AS WELL. 4695 03:20:09,840 --> 03:20:12,880 PATIENT OFTEN SEEN IN A PETE 4696 03:20:12,880 --> 03:20:14,440 TRICK CENTER ESPECIALLY FROM THE 4697 03:20:14,440 --> 03:20:15,360 DISORDERS WE FOLLOW. 4698 03:20:15,360 --> 03:20:17,880 I CAN'T TELL YOU HOW MANY TIMES 4699 03:20:17,880 --> 03:20:19,640 I CALLED TO MAKE AN APPOINTMENT 4700 03:20:19,640 --> 03:20:21,600 AND THEY SAID WHAT'S YOUR 4701 03:20:21,600 --> 03:20:23,360 CHILD'S NAME. 4702 03:20:23,360 --> 03:20:26,600 I SAY I'M THE 30-YEAR-OLD CHILD, 4703 03:20:26,600 --> 03:20:28,160 THANKS FOR ASKING. 4704 03:20:28,160 --> 03:20:29,120 THAT HAPPENS A LOT. 4705 03:20:29,120 --> 03:20:30,880 PATIENT SEEN IN A PEDIATRIC 4706 03:20:30,880 --> 03:20:33,000 CENTER AND WE HAVE TINY LITTLE 4707 03:20:33,000 --> 03:20:34,800 CHAIRS AND IT DOESN'T FEEL LIKE 4708 03:20:34,800 --> 03:20:38,000 THEY ARE BEING SEEN AS AN ADULT. 4709 03:20:38,000 --> 03:20:39,960 IT CAN ALSO BE FRAGMENTED AND 4710 03:20:39,960 --> 03:20:40,680 MORE CHALLENGING FOR THE PATIENT 4711 03:20:40,680 --> 03:20:42,240 LIKE I TALKED ABOUT EARLIER. 4712 03:20:42,240 --> 03:20:44,000 THEY HAVE TO THEN GET A REFERRAL 4713 03:20:44,000 --> 03:20:47,040 FROM THEIR PRIMARY CARE PROVIDER 4714 03:20:47,040 --> 03:20:48,880 AND GO BE SEEN SOMEWHERE ELSE 4715 03:20:48,880 --> 03:20:51,640 AND NOW IT'S AN EXTRA VISIT AND 4716 03:20:51,640 --> 03:20:53,560 STEP AND ADULT VISIT CONCERNS 4717 03:20:53,560 --> 03:20:55,040 MAY RECEIVE EXTRA ATTENTION IF 4718 03:20:55,040 --> 03:20:56,240 THEY'RE NOT ADULT TRAINED 4719 03:20:56,240 --> 03:20:58,280 PROVIDERS, THOSE THINGS MAY BE 4720 03:20:58,280 --> 03:21:04,240 MORE DIFFICULT TO RECEIVE CARE. 4721 03:21:04,240 --> 03:21:06,080 FOR THOSE WHO CAN TRANSITION TO 4722 03:21:06,080 --> 03:21:08,520 AN ANY CENTER THAT'S ADULT 4723 03:21:08,520 --> 03:21:09,800 FOCUSSED IT'S STILL A CHALLENGE. 4724 03:21:09,800 --> 03:21:11,280 FOR ME IT'S A DISCUSSION THEY 4725 03:21:11,280 --> 03:21:13,640 WERE TRYING TO SEE IF WE COULD 4726 03:21:13,640 --> 03:21:15,360 FIND AN ADULT FOCUSSED CENTER 4727 03:21:15,360 --> 03:21:16,880 BUT I WAS AFRAID OF THAT BECAUSE 4728 03:21:16,880 --> 03:21:18,840 I WAS AT THE SAME PLACE SINCE I 4729 03:21:18,840 --> 03:21:22,360 WAS BORN AND TRUSTED THE HEALTH 4730 03:21:22,360 --> 03:21:25,080 CARE TEAM I HAD AND THERE'S 4731 03:21:25,080 --> 03:21:28,560 CULTURAL DIFFERENCES BETWEEN 4732 03:21:28,560 --> 03:21:29,280 PEDIATRIC AND ADULT PROVIDERS 4733 03:21:29,280 --> 03:21:31,240 THAT CAN BE UNEXPECTED FOR 4734 03:21:31,240 --> 03:21:32,320 PEOPLE AND IN PEDIATRICS THERE'S 4735 03:21:32,320 --> 03:21:34,880 A LOT OF SUPPORT AND HELPING 4736 03:21:34,880 --> 03:21:38,240 PEOPLE WHEN YOUR STRUGGLING. 4737 03:21:38,240 --> 03:21:39,960 WITH ADULT AREA YOU'RE AN ADULT 4738 03:21:39,960 --> 03:21:41,960 NOW AND PATIENTS ARE MORE ON 4739 03:21:41,960 --> 03:21:42,560 THEIR OWN. 4740 03:21:42,560 --> 03:21:48,640 THIS IS NOW YOUR RESPONSIBILITY. 4741 03:21:48,640 --> 03:21:50,640 AND THE INSURANCE CHALLENGES IN 4742 03:21:50,640 --> 03:21:52,480 RARE DISEASE IT'S A NIGHTMARE. 4743 03:21:52,480 --> 03:21:54,880 I'M SURE MANY PEOPLE WITH RARE 4744 03:21:54,880 --> 03:21:56,360 DISEASE HAD TO FIGHT WITH 4745 03:21:56,360 --> 03:21:56,880 INSURANCE. 4746 03:21:56,880 --> 03:21:58,640 AND NOT ONLY SIGNIFICANT 4747 03:21:58,640 --> 03:21:59,360 CHALLENGES BUT LACK OF EDUCATION 4748 03:21:59,360 --> 03:22:00,240 AND SUPPORT. 4749 03:22:00,240 --> 03:22:01,400 HOW DO WE PICK INSURANCE. 4750 03:22:01,400 --> 03:22:04,120 HOW DO WE KNOW TO MAKE SURE OUR 4751 03:22:04,120 --> 03:22:05,240 THINGS ARE COVERED AHEAD OF 4752 03:22:05,240 --> 03:22:05,440 TIME. 4753 03:22:05,440 --> 03:22:07,640 ALL THE THINGS WE DON'T HAVE 4754 03:22:07,640 --> 03:22:08,320 SUPPORT FOR. 4755 03:22:08,320 --> 03:22:10,240 YOU CAN SEE THIS A LOT ON 4756 03:22:10,240 --> 03:22:11,680 SUPPORT GROUPS. 4757 03:22:11,680 --> 03:22:13,400 DOES ANYONE KNOW IF ANYONE 4758 03:22:13,400 --> 03:22:14,040 COVERS THIS AND THERE'S NOT A 4759 03:22:14,040 --> 03:22:16,560 LOT OF GUIDANCE FOR THAT. 4760 03:22:16,560 --> 03:22:18,240 AND TRANSITION TO INDEPENDENCE 4761 03:22:18,240 --> 03:22:20,480 FROM THE PATIENT SIDE FROM 4762 03:22:20,480 --> 03:22:22,840 PARENTS MANAGING CARE TO YOU AS 4763 03:22:22,840 --> 03:22:24,960 THE PATIENT MANAGING CARE. 4764 03:22:24,960 --> 03:22:26,240 THERE'S INSUFFICIENT GUIDANCE 4765 03:22:26,240 --> 03:22:27,480 FROM CLINIC. 4766 03:22:27,480 --> 03:22:30,520 THERE'S NOT GREAT PROTOCOLS AND 4767 03:22:30,520 --> 03:22:31,680 NOT GREAT INFORMATION WHEN WE 4768 03:22:31,680 --> 03:22:34,960 SHOULD START DOING THESE THINGS. 4769 03:22:34,960 --> 03:22:37,360 ONCE YOU GET IN THE ADULTHOOD 4770 03:22:37,360 --> 03:22:38,920 STAGE THERE'S LESS SUPPORT. 4771 03:22:38,920 --> 03:22:43,280 YOU'RE MADE TO FEEL LIKE YOU'RE 4772 03:22:43,280 --> 03:22:46,760 AN ADULT NOW AND RESPONSIBLE FOR 4773 03:22:46,760 --> 03:22:47,800 YOUR CARE. 4774 03:22:47,800 --> 03:22:49,280 I HEARD THIS TOO IN A 4775 03:22:49,280 --> 03:22:49,800 PRESENTATION THE DISEASE 4776 03:22:49,800 --> 03:22:52,560 EDUCATION IS SO IMPORTANT. 4777 03:22:52,560 --> 03:22:53,680 WE GIVE THAT FROM THE PROVIDER 4778 03:22:53,680 --> 03:22:55,800 SIDE TO THE PARENTS AT THE TIME 4779 03:22:55,800 --> 03:22:57,800 OF DIAGNOSIS BUT IF THE CHILD IS 4780 03:22:57,800 --> 03:23:00,720 YOUNG THEY BECOME AN ADULT AND 4781 03:23:00,720 --> 03:23:01,720 WE ASSUME YOU ALREADY KNOW YOUR 4782 03:23:01,720 --> 03:23:02,480 DISEASE BY NOW. 4783 03:23:02,480 --> 03:23:04,000 I DID NOT KNOW. 4784 03:23:04,000 --> 03:23:06,240 I THOUGHT I HAD A GREAT 4785 03:23:06,240 --> 03:23:08,160 UNDERSTANDING OF PKU BUT DID NOT 4786 03:23:08,160 --> 03:23:09,760 REALIZE HOW MUCH MORE I NEEDED 4787 03:23:09,760 --> 03:23:13,560 TO UNDERSTAND UNTIL I STARTED 4788 03:23:13,560 --> 03:23:15,160 WORK IN METABOLISM. 4789 03:23:15,160 --> 03:23:21,760 DON'T GET THAT DETAILED IN DEPTH 4790 03:23:21,760 --> 03:23:22,800 CONVERSATION YOU USUALLY GET AND 4791 03:23:22,800 --> 03:23:24,600 IF YOU'RE A CHILD YOU DON'T 4792 03:23:24,600 --> 03:23:25,760 USUALLY GET THAT CONVERSATION. 4793 03:23:25,760 --> 03:23:27,520 THE CHALLENGE WITH MAINTAINING 4794 03:23:27,520 --> 03:23:29,040 TREATMENT FROM THE PROVIDER AND 4795 03:23:29,040 --> 03:23:30,240 PATIENT SIDE IF YOU DON'T FEEL 4796 03:23:30,240 --> 03:23:32,400 LIKE YOU HAVE GREAT OPTIONS, 4797 03:23:32,400 --> 03:23:34,680 THIS CAN BE A REAL STRUGGLE. 4798 03:23:34,680 --> 03:23:36,720 SO WRAPPING IT UP, WHAT DO WE DO 4799 03:23:36,720 --> 03:23:37,400 ABOUT THIS? 4800 03:23:37,400 --> 03:23:39,600 HOW DO WE IMPROVE THIS? 4801 03:23:39,600 --> 03:23:41,760 FIRST IMPROVEMENT ARE PROTOCOLS 4802 03:23:41,760 --> 03:23:42,960 AND GUIDELINES WOULD BE HELPFUL. 4803 03:23:42,960 --> 03:23:46,400 NOT TO SAY THIS IS GOING TO BE 4804 03:23:46,400 --> 03:23:47,800 APPLICABLE TO APPROACH BECAUSE 4805 03:23:47,800 --> 03:23:48,960 PATIENTS ARE DIFFERENT BUT HAVE 4806 03:23:48,960 --> 03:23:50,240 MORE GUIDANCE FOR PROVIDERS AND 4807 03:23:50,240 --> 03:23:53,440 PATIENTS WOULD BE BENEFICIAL. 4808 03:23:53,440 --> 03:23:55,120 THERE ARE PEDIATRIC FOCUSSED 4809 03:23:55,120 --> 03:23:57,000 CENTERS AND ADULT FOCUSSED 4810 03:23:57,000 --> 03:23:59,440 CENTER IS NOT AN OPTION, EXPAND 4811 03:23:59,440 --> 03:24:00,640 ALTERNATIVE OPTIONS SUCH AS 4812 03:24:00,640 --> 03:24:02,320 PARTNERING WITH ADULT CENTERS OR 4813 03:24:02,320 --> 03:24:05,280 OFFERING OUTREACH CLINICS SO 4814 03:24:05,280 --> 03:24:06,200 PATIENTS DON'T ALWAYS FEEL LIKE 4815 03:24:06,200 --> 03:24:09,000 THEY ARE COMING TO A PEDIATRIC 4816 03:24:09,000 --> 03:24:09,280 HOSPITAL. 4817 03:24:09,280 --> 03:24:10,920 MORE RESEARCH IS ALWAYS NEEDED 4818 03:24:10,920 --> 03:24:13,600 FOR THINGS LIKE ADULT 4819 03:24:13,600 --> 03:24:15,120 COMORBIDITIES, THE 4820 03:24:15,120 --> 03:24:16,720 NEUROCOGNITIVE OUTCOMES AND THE 4821 03:24:16,720 --> 03:24:18,240 LONG-TERM OUTCOMES AND HAVING 4822 03:24:18,240 --> 03:24:19,680 THAT CONVERSATION TO KEEP 4823 03:24:19,680 --> 03:24:21,840 PATIENTS ENGAGED AND MOTIVATED 4824 03:24:21,840 --> 03:24:23,280 AND THE WANT TO STAY IN CLINIC 4825 03:24:23,280 --> 03:24:23,920 IS IMPORTANT. 4826 03:24:23,920 --> 03:24:27,200 AND ASSISTANCE AND RESOURCE FOR 4827 03:24:27,200 --> 03:24:28,480 PATIENTS WHEN THEY TRANSITION. 4828 03:24:28,480 --> 03:24:30,600 HAVING THINGS IN WRITING AND 4829 03:24:30,600 --> 03:24:32,440 HAVING A PLAN IN PLACE FOR THAT 4830 03:24:32,440 --> 03:24:33,600 TRANSITION WHETHER YOU'RE 4831 03:24:33,600 --> 03:24:35,040 STAYING IN PEDIATRIC CENTER OR 4832 03:24:35,040 --> 03:24:37,040 WHETHER YOU'RE GOING SOMEWHERE 4833 03:24:37,040 --> 03:24:38,240 ELSE HAVING A PLAN FOR 4834 03:24:38,240 --> 03:24:40,680 TRANSITION IN PLACE CAN BE 4835 03:24:40,680 --> 03:24:40,960 BENEFICIAL. 4836 03:24:40,960 --> 03:24:42,280 OF COURSE, CONTINUED RESEARCH 4837 03:24:42,280 --> 03:24:43,480 FOR MORE TREATMENT OPTIONS. 4838 03:24:43,480 --> 03:24:46,120 THIS IS OBVIOUSLY VERY IMPORTANT 4839 03:24:46,120 --> 03:24:47,440 FOR EVERYONE WITH RARE DISEASE 4840 03:24:47,440 --> 03:24:48,600 AND TO KEEP PEOPLE MOTIVATED AND 4841 03:24:48,600 --> 03:24:51,400 I THINK IT'S IMPORTANT TO POINT 4842 03:24:51,400 --> 03:24:53,960 OUT ALL THESE THINGS SHOULDN'T 4843 03:24:53,960 --> 03:24:55,200 REALLY FALL IN ONE SPECIFIC 4844 03:24:55,200 --> 03:24:56,320 ORGANIZATION BUT COLLABORATIVE 4845 03:24:56,320 --> 03:24:58,320 APPROACH BETWEEN THE CLINICS, 4846 03:24:58,320 --> 03:25:00,400 RESEARCHERS AND PATIENT ADVOCACY 4847 03:25:00,400 --> 03:25:00,640 GROUPS. 4848 03:25:00,640 --> 03:27:01,840 THANK YOU VERY MUCH. 4849 03:27:01,840 --> 03:27:04,480 THESE ARE THE DATA USED FOR 4850 03:27:04,480 --> 03:27:06,320 OPTIMIZING THE DESIGNS FOR JEAN 4851 03:27:06,320 --> 03:27:08,600 TARGETED THERAPIES AND THE 4852 03:27:08,600 --> 03:27:10,360 ACCURACY OF GENETIC TESTING 4853 03:27:10,360 --> 03:27:11,720 TECHNOLOGIES. 4854 03:27:11,720 --> 03:27:13,080 THE UNDER REPRESENTATION OF 4855 03:27:13,080 --> 03:27:14,840 MINORITIES COULD BE THE CAUSE OF 4856 03:27:14,840 --> 03:27:17,760 AN UNEQUAL PERFORMANCE OF THESE 4857 03:27:17,760 --> 03:27:18,720 GENETIC TECHNOLOGIES. 4858 03:27:18,720 --> 03:27:21,520 A CLEAR DRIVER OF INEQUITY IS 4859 03:27:21,520 --> 03:27:22,520 RELATED TO THE DISTRIBUTION OF 4860 03:27:22,520 --> 03:27:23,520 WEALTH IN THISY COUNTRY. 4861 03:27:23,520 --> 03:27:26,560 ONE OF THE FANTASTIC ADVANTAGES 4862 03:27:26,560 --> 03:27:27,320 OF GENE-TARGETED THERAPIES, IT 4863 03:27:27,320 --> 03:27:29,520 MAY ONLY TAKE A 7-FIGURE 4864 03:27:29,520 --> 03:27:30,840 INVESTMENT TO HAVE EXPERIMENTAL 4865 03:27:30,840 --> 03:27:32,720 THERAPY READY FOR HUMAN TRIALS. 4866 03:27:32,720 --> 03:27:34,480 THIS IS AN AMAZING REDUCTION 4867 03:27:34,480 --> 03:27:36,640 FROM THE TYPICAL NINE-FIGURE 4868 03:27:36,640 --> 03:27:37,920 ESTIMATES OF TRADITIONAL 4869 03:27:37,920 --> 03:27:38,200 MODALITIES. 4870 03:27:38,200 --> 03:27:40,520 IT'S A REDUCTION THAT ALLOWED 4871 03:27:40,520 --> 03:27:41,400 SINGLE FAMILIES OR SMALL GROUPS 4872 03:27:41,400 --> 03:27:43,000 OF FAMILIES TO SPEARHEAD 4873 03:27:43,000 --> 03:27:45,920 DEVELOPMENT OF THERAPEUTICS. 4874 03:27:45,920 --> 03:27:48,080 THESE FEATS ARE REMARKABLE AND 4875 03:27:48,080 --> 03:27:48,440 WIDELY ADMIRED. 4876 03:27:48,440 --> 03:27:50,440 BUT WE CAN ALSO ASK, WHICH 4877 03:27:50,440 --> 03:27:51,400 FAMILIES HAVE THE RESOURCES TO 4878 03:27:51,400 --> 03:27:53,920 TAKE THAT JOURNEY? 4879 03:27:53,920 --> 03:27:54,880 WHICH PATIENTS GET TO 4880 03:27:54,880 --> 03:27:57,800 PARTICIPATE IN THOSE RESEARCH 4881 03:27:57,800 --> 03:27:58,120 OPPORTUNITIES? 4882 03:27:58,120 --> 03:28:00,320 IT IS ONLY IN THE GENE TARGETED 4883 03:28:00,320 --> 03:28:03,000 THERAPY SPACE THAT THERAPEUTIC 4884 03:28:03,000 --> 03:28:04,720 DEVELOPMENT FUNDERS, FUND A 4885 03:28:04,720 --> 03:28:07,280 CLINICAL TRIAL FOR THEIR CHILD 4886 03:28:07,280 --> 03:28:12,400 AND CHILDREN LIKE THEM IN THAT 4887 03:28:12,400 --> 03:28:12,600 ORDER. 4888 03:28:12,600 --> 03:28:13,040 HIGH-STAKES IN MANY 4889 03:28:13,040 --> 03:28:14,200 GENE-TARGETED THERAPIES, NOT 4890 03:28:14,200 --> 03:28:16,120 ONLY BECAUSE OF CONCERNS ABOUT 4891 03:28:16,120 --> 03:28:17,400 DISEASE PROGRESSION BUT BECAUSE 4892 03:28:17,400 --> 03:28:18,880 THERE IS SOMETIMES NO CLEAR PLAN 4893 03:28:18,880 --> 03:28:21,040 FOR HOW TO CONTINUE THE STUDY 4894 03:28:21,040 --> 03:28:25,120 AFTER THE FIRST 6-12 PATIENTS. 4895 03:28:25,120 --> 03:28:26,560 COMPOUNDING UNEQUAL DISTRIBUTION 4896 03:28:26,560 --> 03:28:28,040 OF RESOURCES, WHAT ABOUT THE 4897 03:28:28,040 --> 03:28:28,680 EMPATHY GAP? 4898 03:28:28,680 --> 03:28:30,720 IN THE SUCCESS STORIES OF RARE 4899 03:28:30,720 --> 03:28:34,920 DISEASE RESEARCH, IT IS 4900 03:28:34,920 --> 03:28:36,120 SEEMINGLY COMMONPLACE FOR 4901 03:28:36,120 --> 03:28:36,760 PHYSICIANS, RESEARCHERS, FUNDERS 4902 03:28:36,760 --> 03:28:37,640 AND INDUSTRY TO GO BEYOND THE 4903 03:28:37,640 --> 03:28:40,080 CALL OF DUTY AFTER GREETING A 4904 03:28:40,080 --> 03:28:42,080 PATIENT IN NEED OF A CHAMPION. 4905 03:28:42,080 --> 03:28:43,960 WHOSE LIVES INSPIRE THAT 4906 03:28:43,960 --> 03:28:46,840 RESPONSE AND WHOSE LIVES DO NOT? 4907 03:28:46,840 --> 03:28:48,640 A COMMON REASON FOR UNDER 4908 03:28:48,640 --> 03:28:50,760 REPRESENTATION IN GENE TARGETED 4909 03:28:50,760 --> 03:28:51,760 THERAPY IN CLINICAL TRIALS S HOW 4910 03:28:51,760 --> 03:28:55,520 EASY IT IS TO RATIONALIZE THE 4911 03:28:55,520 --> 03:28:57,560 LACK OF DIVERSITY INSTEAD OF 4912 03:28:57,560 --> 03:29:00,040 INVESTING IN DIVERSITY. 4913 03:29:00,040 --> 03:29:00,680 FOR MOST COMMON DISEASES, THERE 4914 03:29:00,680 --> 03:29:02,760 IS A SOLID EVIDENCE BASE FOR WHO 4915 03:29:02,760 --> 03:29:04,320 IS AFFECTED BY A GIVEN DISEASE. 4916 03:29:04,320 --> 03:29:06,280 IN MANY RARE DISEASE 4917 03:29:06,280 --> 03:29:06,920 COMMUNITIES, PATIENT GROUPS AND 4918 03:29:06,920 --> 03:29:10,920 RESEARCHERS ARE LEFT TO SQUINT 4919 03:29:10,920 --> 03:29:12,000 AT A HOMOGENOUS PATIENT 4920 03:29:12,000 --> 03:29:13,640 POPULATION WITH NO IDEAS IF IT 4921 03:29:13,640 --> 03:29:15,720 IS REFLECTIVE OF THE CARRIER 4922 03:29:15,720 --> 03:29:16,440 DISTRIBUTION OR WHO HAD THE 4923 03:29:16,440 --> 03:29:17,520 PRIVILEGE OF GETTING DIAGNOSED 4924 03:29:17,520 --> 03:29:18,840 AND BECOMING ENGAGED. 4925 03:29:18,840 --> 03:29:20,320 THIS IS TREMENDOUSLY IMPORTANT 4926 03:29:20,320 --> 03:29:23,560 BECAUSE OF HOW COMMON IT IS TO 4927 03:29:23,560 --> 03:29:25,520 JUSTIFY DISPROPORTIONATELY 4928 03:29:25,520 --> 03:29:27,840 WHITE, PATIENT ENROLLMENT IN 4929 03:29:27,840 --> 03:29:29,640 GENE TARGETED THERAPY STUDIES 4930 03:29:29,640 --> 03:29:30,240 BECAUSE OF THE POSSIBILITY OF 4931 03:29:30,240 --> 03:29:31,680 RACIAL OR ETHNIC CONCENTRATION 4932 03:29:31,680 --> 03:29:33,040 DESPITE THE FACT THAT MAJORITY 4933 03:29:33,040 --> 03:29:34,040 OF CHILDREN IN THIS COUNTRY ARE 4934 03:29:34,040 --> 03:29:35,440 NOT WHITE AND THE MAJORITY OF 4935 03:29:35,440 --> 03:29:38,720 RARE DISEASES IN THIS KOREAN, 4936 03:29:38,720 --> 03:29:39,120 EFFECT CHILDREN. 4937 03:29:39,120 --> 03:29:40,320 FINALLY, THERE IS THE 4938 03:29:40,320 --> 03:29:42,800 COMMONLY-RAISED ISSUE OF TRUST 4939 03:29:42,800 --> 03:29:44,280 AND MISTRUST. 4940 03:29:44,280 --> 03:29:45,320 DURING TODAY'S SESSION, I INVITE 4941 03:29:45,320 --> 03:29:46,160 THE AUDIENCE TO STOP THINKING 4942 03:29:46,160 --> 03:29:48,840 ABOUT THE SOURCES OF MISTRUST AS 4943 03:29:48,840 --> 03:29:50,080 ENTIRELY HISTORICAL AND TO 4944 03:29:50,080 --> 03:29:52,160 REFLECT ON WHETHER THE PRESIDENT 4945 03:29:52,160 --> 03:29:56,120 IS EQUITABLE ENOUGH TO DESERVE 4946 03:29:56,120 --> 03:29:57,360 TRUST TO BE IN AN ENVIRONMENT 4947 03:29:57,360 --> 03:30:00,640 WHERE WE CAN SUSPECT THERE IS 4948 03:30:00,640 --> 03:30:02,520 INEQUITABLE DIAGNOSIS, CARE, 4949 03:30:02,520 --> 03:30:06,320 SUPPORT SYSTEMS, OPPORTUNITIES 4950 03:30:06,320 --> 03:30:07,280 TO PARTICIPATE OR TESTING 4951 03:30:07,280 --> 03:30:08,880 RESULTING IN TRUST. 4952 03:30:08,880 --> 03:30:10,360 IF THE ANSWER ISN'T A 4953 03:30:10,360 --> 03:30:12,640 FULL-THROATED YES, THEN SHOULD 4954 03:30:12,640 --> 03:30:13,240 THE DISCUSSION OF TRUST BEGIN 4955 03:30:13,240 --> 03:30:13,840 WITH HOW WE WILL CHANGE THE 4956 03:30:13,840 --> 03:30:15,720 STATE OF AFFAIRS SO WE EARN 4957 03:30:15,720 --> 03:30:16,880 TRUST INSTEAD OF DISCUSSION OF 4958 03:30:16,880 --> 03:30:20,560 HOW TO OBTAIN IT BEFORE IT IS 4959 03:30:20,560 --> 03:30:20,800 DUE? 4960 03:30:20,800 --> 03:30:22,040 HAVING INTRODUCED A SMALL 4961 03:30:22,040 --> 03:30:24,000 CONTEXT ABOUT THE CURRENT STATE 4962 03:30:24,000 --> 03:30:26,640 OF INEQUITY, IT IS IMPORTANT TO 4963 03:30:26,640 --> 03:30:27,280 NOTE THAT SINCE THE MURDER OF 4964 03:30:27,280 --> 03:30:28,600 GEORGE FLOYD, THERE HAS BEEN A 4965 03:30:28,600 --> 03:30:30,440 LARGE INCREASE OF AWARENESS AND 4966 03:30:30,440 --> 03:30:32,520 EFFORT TO ADDRESS DEI ISSUES 4967 03:30:32,520 --> 03:30:33,840 BROADLY AND ALSO IN THE SPECIFIC 4968 03:30:33,840 --> 03:30:36,320 CONTEXT OF HEALTH AND MEDICINE. 4969 03:30:36,320 --> 03:30:38,280 MANY KEY ORGANIZATIONS ACROSS 4970 03:30:38,280 --> 03:30:40,000 THE RARE DISEASE COMMUNITY ARE 4971 03:30:40,000 --> 03:30:41,960 ENCOURAGING DIALOGUE, ORGANIZING 4972 03:30:41,960 --> 03:30:44,320 EDUCATIONAL CONFERENCES, 4973 03:30:44,320 --> 03:30:47,520 CREATING POSITIONS AND FUNDING 4974 03:30:47,520 --> 03:30:48,520 EQUITY AND HEALTH DISPARITY 4975 03:30:48,520 --> 03:30:48,760 GRANTS. 4976 03:30:48,760 --> 03:30:50,120 THERE IS INCREASED AGREEMENT 4977 03:30:50,120 --> 03:30:51,600 THAT SOMETHING MUST BE DONE TO 4978 03:30:51,600 --> 03:30:53,760 MAKE SURE THAT GENE-TARGETED 4979 03:30:53,760 --> 03:30:55,760 THERAPIES AREN'T JUST FOR THE 4980 03:30:55,760 --> 03:30:56,560 WEALTHY AND WELL CONNECTED, 4981 03:30:56,560 --> 03:30:58,000 INCLUDING ORGANIZATION THAT IS 4982 03:30:58,000 --> 03:30:59,560 HAVE BEGUN DEVELOPING 4983 03:30:59,560 --> 03:31:01,320 EXPERIMENTAL THERAPEUTICS FOR 4984 03:31:01,320 --> 03:31:02,360 PATIENTS REGARDLESS OF ABILITY 4985 03:31:02,360 --> 03:31:04,000 TO PAY. 4986 03:31:04,000 --> 03:31:04,600 THE FEDERAL GOVERNMENT STEPPED 4987 03:31:04,600 --> 03:31:06,520 UP TO THE PLATE WITH IMPORTANT 4988 03:31:06,520 --> 03:31:07,480 INITIATIVES INCLUDING EXECUTIVE 4989 03:31:07,480 --> 03:31:11,000 ORDERS TO ADVANCE RACIAL EQUITY, 4990 03:31:11,000 --> 03:31:12,080 THE NATIONAL ACADEMY'S RECENT 4991 03:31:12,080 --> 03:31:15,480 REPORT ON ADVANCING ANTI-RACISM 4992 03:31:15,480 --> 03:31:16,680 AND DEI IN STEM ORGANIZATIONS 4993 03:31:16,680 --> 03:31:18,240 AND NIH'S UNITE INITIATIVE, 4994 03:31:18,240 --> 03:31:20,240 DEVELOPMENT OF RACIAL AND EQUITY 4995 03:31:20,240 --> 03:31:24,200 PLANS ACROSS NIH ICs AND MORE. 4996 03:31:24,200 --> 03:31:25,280 OUR SPEAKERS EACH REPRESENT THE 4997 03:31:25,280 --> 03:31:28,120 PROMISE FOR A BRIGHTER AND MORE 4998 03:31:28,120 --> 03:31:29,160 EQUITABLE FUTURE. 4999 03:31:29,160 --> 03:31:31,000 I'M PLEASED TO INTRODUCE TODAY'S 5000 03:31:31,000 --> 03:31:33,680 SPEAKERS IN THE ORDER THEY WILL 5001 03:31:33,680 --> 03:31:34,080 SPEAK. 5002 03:31:34,080 --> 03:31:35,240 TSHAKA CUNNINGHAM, IS A 5003 03:31:35,240 --> 03:31:38,040 CO-FOUNDER AND CHIEF SCIENTIFIC 5004 03:31:38,040 --> 03:31:39,560 OFFICER AT POLARIS GENOMICS. 5005 03:31:39,560 --> 03:31:42,640 A LEADING VOICE IN ADVOCATING 5006 03:31:42,640 --> 03:31:43,240 FOR REPRESENTATION IN THE FIELD 5007 03:31:43,240 --> 03:31:47,560 OF GENOMICS AND A VOLUNTEER 5008 03:31:47,560 --> 03:31:48,160 LEADER OF NOON PROFIT STEM USE 5009 03:31:48,160 --> 03:31:48,760 PROGRAMMING FOR UNDER SERVED 5010 03:31:48,760 --> 03:31:49,080 COMMUNITIES. 5011 03:31:49,080 --> 03:31:50,680 HE PREVIOUSLY WORKED AT THE V.A. 5012 03:31:50,680 --> 03:31:53,760 HEADQUARTERS OVERSEEING A LARGE 5013 03:31:53,760 --> 03:31:54,320 NEURODEGENERATIVE DISEASE 5014 03:31:54,320 --> 03:31:55,520 RESEARCH PROGRAM AND SERVED AS 5015 03:31:55,520 --> 03:31:58,440 SUBJECT MATTER EXPERT FOR THE 5016 03:31:58,440 --> 03:31:59,240 V.A.'S GENOMIC MEDICINE 5017 03:31:59,240 --> 03:32:00,480 IMPLEMENTATION PROGRAM. 5018 03:32:00,480 --> 03:32:04,280 MOTIVATED BY THE TIMELY NEED FOR 5019 03:32:04,280 --> 03:32:05,720 ADVANCEMENTS IN PRECISION 5020 03:32:05,720 --> 03:32:07,400 MEDICINE, DR. CUNNINGHAM IS 5021 03:32:07,400 --> 03:32:08,560 DEDICATED TO IMPROVE PEOPLE'S 5022 03:32:08,560 --> 03:32:09,880 LIVES THROUGH THE POWER OF 5023 03:32:09,880 --> 03:32:10,160 GENOMICS. 5024 03:32:10,160 --> 03:32:12,240 HE RECEIVED HIS BA FROM 5025 03:32:12,240 --> 03:32:14,440 PRINCETON UNIVERSITY AND PH.D. 5026 03:32:14,440 --> 03:32:16,720 FROM ROCKEFELLER UNIVERSITY. 5027 03:32:16,720 --> 03:32:18,240 COMPLETED POSTDOCTORAL TRAINING 5028 03:32:18,240 --> 03:32:22,000 AT THE PAS TOUR INSTITUTE IN 5029 03:32:22,000 --> 03:32:25,720 PARIS, FRANCE. 5030 03:32:25,720 --> 03:32:29,920 SHENGDAR TSAI IS AT ST. JUDE'S 5031 03:32:29,920 --> 03:32:31,480 CHILDREN REACH HOSPITAL FOCUSING 5032 03:32:31,480 --> 03:32:33,440 ON GENOME EDITING TECHNOLOGIES 5033 03:32:33,440 --> 03:32:34,760 FOR THERAPEUTICS, INCLUDING 5034 03:32:34,760 --> 03:32:37,200 METHODS TO DEFINE THE 5035 03:32:37,200 --> 03:32:40,000 GENOME-WIDE SPECIFICITY OF CHRIS 5036 03:32:40,000 --> 03:32:43,200 PER KAS NUCLEASES AND EDITING 5037 03:32:43,200 --> 03:32:44,600 HEMATOPOIETIC STEM CELLS, FOR 5038 03:32:44,600 --> 03:32:47,560 TREATMENT OF HEMOGLOBINOPATHIES, 5039 03:32:47,560 --> 03:32:51,560 SUCH AS T-CELLS OR CANCER 5040 03:32:51,560 --> 03:32:52,480 IMMUNOTHERAPY. 5041 03:32:52,480 --> 03:32:57,280 HE WAS CHOSE AN AS OUTSTANDING 5042 03:32:57,280 --> 03:32:57,920 INVESTIGATOR. 5043 03:32:57,920 --> 03:32:59,840 HE RECEIVED HIS BS IN 5044 03:32:59,840 --> 03:33:01,280 BIOCHEMISTRY AND CHEMISTRY FROM 5045 03:33:01,280 --> 03:33:04,280 THE UNIVERSITY OF MICHIGAN AND 5046 03:33:04,280 --> 03:33:06,440 MS IN BIOINFORMATIC AND PH.D. IN 5047 03:33:06,440 --> 03:33:08,200 FUNCTION AT GENOMICS FROM THE 5048 03:33:08,200 --> 03:33:09,160 NORTH CAROLINA STATE UNIVERSITY 5049 03:33:09,160 --> 03:33:13,760 AND COMPLETED BOTH POSTDOCTORALS 5050 03:33:13,760 --> 03:33:14,920 AT NATIONAL HOSPITAL AT HARVARD 5051 03:33:14,920 --> 03:33:16,560 MEDICAL SCHOOL. 5052 03:33:16,560 --> 03:33:19,080 MARIO ESTEVEZ IS AN ORGANIZER 5053 03:33:19,080 --> 03:33:21,760 WITH THE RACIAL EQUITY INSITUTE 5054 03:33:21,760 --> 03:33:22,640 WHERE HE FACILITATES TRAININGS 5055 03:33:22,640 --> 03:33:24,360 THAT BRING AWARENESS AND 5056 03:33:24,360 --> 03:33:26,080 ANALYSIS TO ROOT CAUSES OF 5057 03:33:26,080 --> 03:33:27,200 RACIAL DISPARITIES AIMING TO 5058 03:33:27,200 --> 03:33:30,520 CREATE RACIALLY-EQUITABLE 5059 03:33:30,520 --> 03:33:31,040 ORGANIZATIONS AND SYSTEMS. 5060 03:33:31,040 --> 03:33:32,880 HE IS CURRENTLY WORKING TO BRING 5061 03:33:32,880 --> 03:33:34,760 RARE DISEASE INSTITUTIONS TO A 5062 03:33:34,760 --> 03:33:35,960 MORE COMPREHENSIVE UNDERSTANDING 5063 03:33:35,960 --> 03:33:37,800 OF WHAT INSTITUTIONAL AND 5064 03:33:37,800 --> 03:33:38,880 STRUCTURAL RACISM LOOKS LIKE AND 5065 03:33:38,880 --> 03:33:41,080 THE WAYS IN WHICH THEY CAN HELP 5066 03:33:41,080 --> 03:33:43,800 FOSTER MORE EQUITABLE OUTCOMES. 5067 03:33:43,800 --> 03:33:45,360 IN ADDITION, FOR THE LAST SIX 5068 03:33:45,360 --> 03:33:47,120 YEARS, Mr. EVAPORATEY SAYS 5069 03:33:47,120 --> 03:33:51,240 SERVED ON THE BOARD OF --ESTY 5070 03:33:51,240 --> 03:33:53,040 SAYS -- HUNTER SYNDROME RESEARCH 5071 03:33:53,040 --> 03:33:54,560 AND ADVOCACY FOUNDATION. 5072 03:33:54,560 --> 03:33:57,320 HE HAS WORKED TO ADD RARE 5073 03:33:57,320 --> 03:33:58,480 DISEASES TO THE PANEL FOR 5074 03:33:58,480 --> 03:34:00,840 NEWBORN SCREENING AND NEGOTIATED 5075 03:34:00,840 --> 03:34:02,440 DONATED MEDICINE FOR CHILDREN 5076 03:34:02,440 --> 03:34:05,160 WITH HUNTER SYNDROME IN THE 5077 03:34:05,160 --> 03:34:06,120 DEVELOPING WORLD. 5078 03:34:06,120 --> 03:34:09,120 PROJECT ALIVE, A NONPROFIT, IS 5079 03:34:09,120 --> 03:34:11,480 CURRENTLY FINDING A TRIAL THAT 5080 03:34:11,480 --> 03:34:14,160 LOOKS TO CURE HUNTER SYNDROME. 5081 03:34:14,160 --> 03:34:16,400 HE RECEIVED HIS BA IN HISTORY 5082 03:34:16,400 --> 03:34:16,960 AND AFRICAN-AMERICAN STUDIES 5083 03:34:16,960 --> 03:34:18,600 FROM THE UNIVERSITY OF CENTRAL 5084 03:34:18,600 --> 03:34:19,760 FLORIDA AND WILL BE JOINING 5085 03:34:19,760 --> 03:34:22,600 UNITED STATES AS A DIGITAL 5086 03:34:22,600 --> 03:34:22,960 PRESENTER TODAY. 5087 03:34:22,960 --> 03:34:24,640 WITH THAT, IT'S MY PLEASURE TO 5088 03:34:24,640 --> 03:34:27,720 BRING DR. CUNNINGHAM TO THE 5089 03:34:27,720 --> 03:34:37,840 STAGE. 5090 03:34:38,240 --> 03:34:46,080 >> TSHAKA CUNNINGHAM: THANK YOU. 5091 03:34:46,080 --> 03:34:48,360 THANK YOU FOR THAT GREAT 5092 03:34:48,360 --> 03:34:48,680 INTRODUCTION. 5093 03:34:48,680 --> 03:34:50,520 IT'S HUMBLING TO BE STANDING ON 5094 03:34:50,520 --> 03:34:52,160 THIS STAGE. 5095 03:34:52,160 --> 03:34:53,880 I TRAINED AS A POSTDOC. 5096 03:34:53,880 --> 03:34:56,760 I DID TWO POSTDOCS HERE AT THE 5097 03:34:56,760 --> 03:34:58,840 NIH AT THE NATIONAL CANCER 5098 03:34:58,840 --> 03:35:01,000 INSTITUTE AND AT THE NATIONAL 5099 03:35:01,000 --> 03:35:03,120 INSTITUTE OF ALLERGIES AND 5100 03:35:03,120 --> 03:35:03,560 INFECTIOUS DISEASES. 5101 03:35:03,560 --> 03:35:05,280 NIH IS LIKE A HOME TO ME. 5102 03:35:05,280 --> 03:35:07,440 AS A YOUNG SCIENTIST OF COLOR, 5103 03:35:07,440 --> 03:35:09,520 REALLY GETTING MY START HERE AND 5104 03:35:09,520 --> 03:35:12,440 INS OPERATION HERE TO CONTINUE A 5105 03:35:12,440 --> 03:35:13,240 CAREER IN SCIENCE. 5106 03:35:13,240 --> 03:35:16,120 SO I'M HOPING TO SEE MORE OF 5107 03:35:16,120 --> 03:35:19,200 THAT HERE AS NIH SEEKS TO 5108 03:35:19,200 --> 03:35:20,760 DIVERSIFY THE SCIENTIFIC STAFF 5109 03:35:20,760 --> 03:35:21,600 AND THAT'S A VERY IMPORTANT 5110 03:35:21,600 --> 03:35:21,880 ENDEAVOR. 5111 03:35:21,880 --> 03:35:24,360 SO FOR TODAY'S TALK, I'M GOING 5112 03:35:24,360 --> 03:35:25,960 TO GO THROUGH SOME SLIDES VERY 5113 03:35:25,960 --> 03:35:26,200 QUICKLY. 5114 03:35:26,200 --> 03:35:28,600 I WANT TO HURRY UP AND GET 5115 03:35:28,600 --> 03:35:29,640 THROUGH THESE TO GET TO THE END, 5116 03:35:29,640 --> 03:35:32,120 WHICH IS THE PART I'M MOST 5117 03:35:32,120 --> 03:35:32,520 EXCITED ABOUT. 5118 03:35:32,520 --> 03:35:33,880 BUT I'M VERY EXCITED TO BE PART 5119 03:35:33,880 --> 03:35:39,160 OF THIS CONVERSATION, BECAUSE 5120 03:35:39,160 --> 03:35:40,280 THIS IS A VERY IMPORTANT TOPIC 5121 03:35:40,280 --> 03:35:40,720 FOR OUR FIELD. 5122 03:35:40,720 --> 03:35:42,360 NOT JUST A FIELD OF RARE 5123 03:35:42,360 --> 03:35:45,080 DISEASE, BUT IT'S ALL OF 5124 03:35:45,080 --> 03:35:47,120 MEDICINE. 5125 03:35:47,120 --> 03:35:48,640 STRUGGLING WITH THIS DIVERSITY 5126 03:35:48,640 --> 03:35:50,120 PROBLEM SO IT WILL BE IMPORTANT 5127 03:35:50,120 --> 03:35:51,760 TO UNDERSTAND HOW WE CAN ADDRESS 5128 03:35:51,760 --> 03:35:51,960 IT. 5129 03:35:51,960 --> 03:35:54,720 SO I'LL TALK TO YOU TODAY ABOUT 5130 03:35:54,720 --> 03:35:56,960 MY EXPERIENCE BOTH AS A 5131 03:35:56,960 --> 03:35:57,600 SCIENTIST OF COLOR, SOMEONE WHO 5132 03:35:57,600 --> 03:35:59,600 WORKED A LOT NOVEMBER COMMUNITY 5133 03:35:59,600 --> 03:36:01,520 TRYING TO REACH OUT TO UNDER 5134 03:36:01,520 --> 03:36:04,040 REPRESENTED POPULATIONS AND AS 5135 03:36:04,040 --> 03:36:04,640 SOMEONE WHO REALLY CARES ABOUT 5136 03:36:04,640 --> 03:36:08,240 THIS ISSUE THAT IS AFFECTING ALL 5137 03:36:08,240 --> 03:36:10,440 OF US. 5138 03:36:10,440 --> 03:36:10,800 I'M A SCIENTIST. 5139 03:36:10,800 --> 03:36:13,360 SO AS A MOLECULAR BIOLOGIST, 5140 03:36:13,360 --> 03:36:14,360 PH.D., FOR ME IT'S ALWAYS BEEN 5141 03:36:14,360 --> 03:36:15,280 ABOUT THE DNA. 5142 03:36:15,280 --> 03:36:18,160 THERE IS A VERY POPULAR SONG 5143 03:36:18,160 --> 03:36:18,760 WHEN I WAS A YOUNG COLLEGE 5144 03:36:18,760 --> 03:36:22,520 STUDENT CALLED, ALL ABOUT THE 5145 03:36:22,520 --> 03:36:22,920 BENJAMIN'S BABY. 5146 03:36:22,920 --> 03:36:25,080 IT'S ALL ABOUT THE DNA, BABY. 5147 03:36:25,080 --> 03:36:28,960 SO THIS AMAZING MOLECULE, WHICH 5148 03:36:28,960 --> 03:36:31,080 IS UNIQUE TO EACH OF US THAT WE 5149 03:36:31,080 --> 03:36:33,720 GOT FROM OUR PARENTS. 5150 03:36:33,720 --> 03:36:36,600 AND UNDERSTANDING THAT UNIVERSE 5151 03:36:36,600 --> 03:36:39,960 OF 3.2 BILLION ATCs AND Gs, 5152 03:36:39,960 --> 03:36:42,120 IT MAKES EACH OF US UNIQUE IS SO 5153 03:36:42,120 --> 03:36:43,040 IMPORTANT TO HELPING US 5154 03:36:43,040 --> 03:36:44,640 UNDERSTAND HOW TO BEST PRESERVE 5155 03:36:44,640 --> 03:36:46,240 OUR HEALTH IN THE FUTURE. 5156 03:36:46,240 --> 03:36:49,600 AND WE ARE ABLE TO DO THIS AT AN 5157 03:36:49,600 --> 03:36:52,080 AMAZING PACE DUE TO ADVANCES IN 5158 03:36:52,080 --> 03:36:54,840 DNA SEQUENCING TECHNOLOGY THAT 5159 03:36:54,840 --> 03:36:56,520 I'LL DISCUSS. 5160 03:36:56,520 --> 03:36:58,160 WHY IS DIVERSITY IMPORTANT? 5161 03:36:58,160 --> 03:37:01,240 SO SOME BASIC FACTS IS THAT 5162 03:37:01,240 --> 03:37:03,360 EARLY HUMANS EVOLVED OUT OF THE 5163 03:37:03,360 --> 03:37:05,040 CONTINENT OF AFRICA. 5164 03:37:05,040 --> 03:37:06,560 I WAS AT A GENETIC RESEARCH 5165 03:37:06,560 --> 03:37:07,120 CONFERENCE RECENTLY WHERE I 5166 03:37:07,120 --> 03:37:09,200 LEARNED THAT LESS THAN 2% OF ALL 5167 03:37:09,200 --> 03:37:12,680 OF THE DNA EVER SEQUENCED WAS 5168 03:37:12,680 --> 03:37:13,440 FROM AFRICA. 5169 03:37:13,440 --> 03:37:16,040 THAT DOESN'T REALLY MAKE SENSE 5170 03:37:16,040 --> 03:37:18,880 TO US IN A SCIENTIFIC CAPACITY 5171 03:37:18,880 --> 03:37:21,600 BECAUSE EVERYBODY EVOLVED FROM 5172 03:37:21,600 --> 03:37:22,840 THE CONTINENT OF AFRICA. 5173 03:37:22,840 --> 03:37:27,080 SO IT WOULD BEHOOVE US TO 5174 03:37:27,080 --> 03:37:27,600 UNDERSTAND AFRICAN GENOMES 5175 03:37:27,600 --> 03:37:28,200 PROBABLY MORE THAN ANY OTHERS. 5176 03:37:28,200 --> 03:37:29,760 BUT FOR REASONS THAT HAVE 5177 03:37:29,760 --> 03:37:30,360 PERSISTED FOR DECADES HERE, 5178 03:37:30,360 --> 03:37:32,440 AFRICAN AND AFRICAN-AMERICAN 5179 03:37:32,440 --> 03:37:34,960 GENOMES ARE UNDERSTUDIED. 5180 03:37:34,960 --> 03:37:35,640 IT'S SOMETHING WE REALLY WANT TO 5181 03:37:35,640 --> 03:37:37,720 ADDRESS AS WE MOVE FORWARD AND 5182 03:37:37,720 --> 03:37:39,320 IT HELPS US REALIZE THAT 5183 03:37:39,320 --> 03:37:41,120 DIVERSITY AND GENOMICS IS NOT 5184 03:37:41,120 --> 03:37:43,400 JUST GOOD FOR THE AFRICAN 5185 03:37:43,400 --> 03:37:43,960 POPULATION. 5186 03:37:43,960 --> 03:37:46,880 IT'S GOOD FOR ALL OF US SINCE 5187 03:37:46,880 --> 03:37:48,880 FOUNDER POPULATIONS OF HUMANS 5188 03:37:48,880 --> 03:37:49,440 EMERGED OUT OF AFRICA. 5189 03:37:49,440 --> 03:37:51,680 SO UNDERSTANDING MORE ABOUT 5190 03:37:51,680 --> 03:37:52,280 AFRICAN GENOMES IS SOMETHING I 5191 03:37:52,280 --> 03:37:54,000 HOPE TO SEE HAPPENING NOT ONLY 5192 03:37:54,000 --> 03:37:57,240 AT THE NIH BUT AT EVERY PLACE 5193 03:37:57,240 --> 03:37:59,280 THAT DOES GENOME RESEARCH. 5194 03:37:59,280 --> 03:38:00,560 IT'S EVEN MORE IMPORTANT TO 5195 03:38:00,560 --> 03:38:02,520 THINK ABOUT THE GROWING 5196 03:38:02,520 --> 03:38:03,600 DIVERSITY OF OUR COUNTRY. 5197 03:38:03,600 --> 03:38:06,960 SO RIGHT NOW THE UNITED STATES, 5198 03:38:06,960 --> 03:38:09,400 WE ARE AMONG A MAJORITY-MINORITY 5199 03:38:09,400 --> 03:38:11,600 POPULATION UNDER THE AGE OF 16. 5200 03:38:11,600 --> 03:38:12,760 SO SOME OF THE KIDS I'M GOING TO 5201 03:38:12,760 --> 03:38:14,000 TALK ABOUT THAT I TRAIN THAT ARE 5202 03:38:14,000 --> 03:38:15,920 IN THE TEENAGED YEARS, THEY ARE 5203 03:38:15,920 --> 03:38:18,440 THE MAJORITY OF THE POPULATION 5204 03:38:18,440 --> 03:38:20,080 NOW FROM A DIVERSITY 5205 03:38:20,080 --> 03:38:20,400 PERSPECTIVE. 5206 03:38:20,400 --> 03:38:22,360 SO GENOMICS AND RARE DISEASE 5207 03:38:22,360 --> 03:38:24,520 RESEARCH IS GOING TO KEEP PACE 5208 03:38:24,520 --> 03:38:27,960 WITH THIS GROWING DIVERSITY. 5209 03:38:27,960 --> 03:38:29,040 AND THIS IS PARTICULARLY 5210 03:38:29,040 --> 03:38:30,880 IMPORTANT GIVEN THE FACT THAT 5211 03:38:30,880 --> 03:38:32,480 SEQUENCING IS GOING TO BE MORE 5212 03:38:32,480 --> 03:38:34,520 ACCESSIBLE BECAUSE THE COST OF 5213 03:38:34,520 --> 03:38:35,640 SEQUENCING IN OUR CAPACITY TO 5214 03:38:35,640 --> 03:38:38,160 SEQUENCE HUMAN GENOMES HAS GONE 5215 03:38:38,160 --> 03:38:41,280 DOWN DRAMATICALLY SINCE THE 5216 03:38:41,280 --> 03:38:41,920 FIRST HUMAN GENOME WAS SEQUENCED 5217 03:38:41,920 --> 03:38:42,840 OVER 20 YEARS AGO. 5218 03:38:42,840 --> 03:38:44,800 NOW WE ARE AT THE 100 GENOME, 5219 03:38:44,800 --> 03:38:47,760 WHICH IS VERY EXCITING. 5220 03:38:47,760 --> 03:38:50,160 WE CAME FROM THE 3 BILLION 5221 03:38:50,160 --> 03:38:51,800 DOLLAR GENOME TO THE 100 DOLLAR 5222 03:38:51,800 --> 03:38:52,040 GENOME. 5223 03:38:52,040 --> 03:38:54,640 IT IS GOING TO DEMOCRATIZE 5224 03:38:54,640 --> 03:38:56,160 ACCESS TO GENETIC TECHNOLOGY FOR 5225 03:38:56,160 --> 03:38:56,920 EVERYBODY. 5226 03:38:56,920 --> 03:38:57,560 AND THAT SHOULD BE VERY EXCITING 5227 03:38:57,560 --> 03:38:57,880 TO ALL OF US. 5228 03:38:57,880 --> 03:38:58,880 THAT MEANS WE ARE GOING TO HAVE 5229 03:38:58,880 --> 03:39:00,440 MORE SEQUENCING DATA WHICH IS 5230 03:39:00,440 --> 03:39:03,800 GOING TO ALLOW US TO UNDERSTAND 5231 03:39:03,800 --> 03:39:04,760 MORE ABOUT INDIVIDUALS AND THE 5232 03:39:04,760 --> 03:39:06,200 DISEASES THAT THEY SUFFER FROM 5233 03:39:06,200 --> 03:39:08,320 AND HOW TO TAILOR TREATMENTS FOR 5234 03:39:08,320 --> 03:39:08,520 THEM. 5235 03:39:08,520 --> 03:39:10,840 SO WE ARE AT THAT INFLECTION 5236 03:39:10,840 --> 03:39:11,040 POINT. 5237 03:39:11,040 --> 03:39:12,480 WE ARE IN THE GENOME ERA. 5238 03:39:12,480 --> 03:39:15,600 SO THIS IS A VERY EXCITING PIECE 5239 03:39:15,600 --> 03:39:16,960 THAT WILL EFFECT NOT ONLY RARE 5240 03:39:16,960 --> 03:39:18,880 DISEASE, BUT ALL OF MEDICINE AND 5241 03:39:18,880 --> 03:39:20,600 I'M HAPPY THAT OUR GOVERNMENT, 5242 03:39:20,600 --> 03:39:22,880 THE NIH AND OTHER AGENCIES HAVE 5243 03:39:22,880 --> 03:39:24,800 MADE BIG INVESTMENTS IN GENOMICS 5244 03:39:24,800 --> 03:39:26,240 AND PRECISION MEDICINE. 5245 03:39:26,240 --> 03:39:28,240 THIS IS A SLIDE FROM THE NIH 5246 03:39:28,240 --> 03:39:30,160 WEBSITE ON THE PRECISION 5247 03:39:30,160 --> 03:39:31,400 MEDICINE INITIATIVE. 5248 03:39:31,400 --> 03:39:32,440 AND FOR ALL OF THIS IS TO GET US 5249 03:39:32,440 --> 03:39:35,080 FROM THIS SORT OF ONE SIZE FETES 5250 03:39:35,080 --> 03:39:36,840 ALL MEDICINE THAT HAVE BEEN 5251 03:39:36,840 --> 03:39:40,520 PRACTICED FOR DECADES -- 5252 03:39:40,520 --> 03:39:42,360 ONE-SIZE-FITS-ALL -- TO PRE 5253 03:39:42,360 --> 03:39:43,440 PRECISION WHERE WE UNDERSTAND 5254 03:39:43,440 --> 03:39:44,480 EVERYTHING ABOUT IT 5255 03:39:44,480 --> 03:39:45,760 INDIVIDUALLY. 5256 03:39:45,760 --> 03:39:47,240 GENOMICS, LIFESTYLE, FAMILY 5257 03:39:47,240 --> 03:39:48,960 HISTORY, TO TAILOR TREATMENTS 5258 03:39:48,960 --> 03:39:49,560 AND HOW THEY UNDERSTAND TO 5259 03:39:49,560 --> 03:39:50,360 DIFFERENT TREATMENTS. 5260 03:39:50,360 --> 03:39:52,480 SO WE'RE NOT ONLY GOING TO GET 5261 03:39:52,480 --> 03:39:55,360 AN IDEA OF WHO IS SUSCEPTIBLE 5262 03:39:55,360 --> 03:39:56,560 FOR WHAT RARE DISEASE BUT WHO 5263 03:39:56,560 --> 03:39:58,160 WILL RESPOND BEST TO WHAT 5264 03:39:58,160 --> 03:39:58,440 TREATMENT. 5265 03:39:58,440 --> 03:39:59,000 AND THAT IS THE REAL PROMISE 5266 03:39:59,000 --> 03:39:59,200 HERE. 5267 03:39:59,200 --> 03:40:00,960 AND THAT IS WHY IT IS IMPORTANT 5268 03:40:00,960 --> 03:40:03,840 WE HAVE THIS INFORMATION FOR 5269 03:40:03,840 --> 03:40:04,120 EVERYONE. 5270 03:40:04,120 --> 03:40:05,760 WE HAVE A LOT OF WORK TO DO IN 5271 03:40:05,760 --> 03:40:08,600 THIS FIELD BECAUSE BIAS IS 5272 03:40:08,600 --> 03:40:11,000 PERSISTENT AND IT'S BEEN AROUND 5273 03:40:11,000 --> 03:40:12,160 FOR A LONG TIME. 5274 03:40:12,160 --> 03:40:13,120 WELL DOCUMENTED. 5275 03:40:13,120 --> 03:40:15,360 THIS IS SOME KIND OF OLD DATA 5276 03:40:15,360 --> 03:40:16,920 NOW BUT EVEN IF YOU LOOK BACK IN 5277 03:40:16,920 --> 03:40:21,280 THE YEAR 2009, THERE WERE OVER 5278 03:40:21,280 --> 03:40:22,760 ONE HADN'T 7 MILLION SAMPLE 5279 03:40:22,760 --> 03:40:25,080 STUDIED GENETICALLY AND 96% ARE 5280 03:40:25,080 --> 03:40:28,800 FROM EUROPEAN ANCESTRY. 5281 03:40:28,800 --> 03:40:30,280 2016, THAT PERCENT ANNUAL GOT A 5282 03:40:30,280 --> 03:40:32,560 LITTLE BETTER WITH THE ADVENT OF 5283 03:40:32,560 --> 03:40:35,200 MORE LATINOS BEING STUDIED IN 5284 03:40:35,200 --> 03:40:37,920 INDIA AND CHINA BUT YOU HAVE 5285 03:40:37,920 --> 03:40:39,600 LESS THAN 4% FROM 5286 03:40:39,600 --> 03:40:40,240 AFRICAN-AMERICAN AND LATINO AND 5287 03:40:40,240 --> 03:40:41,360 OTHER POPULATIONS. 5288 03:40:41,360 --> 03:40:44,280 SO THAT IS A DISPARITY WE HAVE 5289 03:40:44,280 --> 03:40:44,520 TO CHANGE. 5290 03:40:44,520 --> 03:40:45,760 AND WHEN WE REALLY BREAKDOWN THE 5291 03:40:45,760 --> 03:40:48,640 ROOT CAUSES OF THAT, THERE IS A 5292 03:40:48,640 --> 03:40:51,360 LOT OF PSYCHOSOCIAL REASONS FOR 5293 03:40:51,360 --> 03:40:51,760 THIS. 5294 03:40:51,760 --> 03:40:55,160 THERE IS A LOT OF LACK OF TRUST 5295 03:40:55,160 --> 03:40:55,760 IN THE MEDICAL ESTABLISHMENT, 5296 03:40:55,760 --> 03:40:56,360 MEANING THAT PEOPLE DON'T WANT 5297 03:40:56,360 --> 03:40:57,680 TO PARTICIPATE AND PROVIDE 5298 03:40:57,680 --> 03:40:57,920 SAMPLES. 5299 03:40:57,920 --> 03:40:58,600 AND THIS IS SOMETHING THAT WE 5300 03:40:58,600 --> 03:41:00,000 ARE ALL GOING TO HAVE TO ADDRESS 5301 03:41:00,000 --> 03:41:01,520 FOR ALL OF US PROGRAMS TO REALLY 5302 03:41:01,520 --> 03:41:04,200 BENEFIT ALL OF US. 5303 03:41:04,200 --> 03:41:06,640 SO WHEN IT COMES TO THIS MEDICAL 5304 03:41:06,640 --> 03:41:10,600 RESEARCH, THE ENTIRE FIELD TRUST 5305 03:41:10,600 --> 03:41:10,840 IS LACKED. 5306 03:41:10,840 --> 03:41:12,560 WE HEARD IT OVER AND OVER AGAIN. 5307 03:41:12,560 --> 03:41:15,520 AND I'LL GIVE YOU THREE 5308 03:41:15,520 --> 03:41:15,800 EXHIBITS. 5309 03:41:15,800 --> 03:41:17,040 EXHIBIT A FOR WHY TRUST IS 5310 03:41:17,040 --> 03:41:17,880 LACKING PARTICULARLY FOR 5311 03:41:17,880 --> 03:41:18,920 AFRICAN-AMERICANS, THE COMMUNITY 5312 03:41:18,920 --> 03:41:20,240 I COME FROM. 5313 03:41:20,240 --> 03:41:24,880 WE ALL HEARD ABOUT THE TUS 5314 03:41:24,880 --> 03:41:25,800 KEYINGY STUDY. 5315 03:41:25,800 --> 03:41:27,240 IT WAS LANDMARK EXAMPLE OF 5316 03:41:27,240 --> 03:41:28,280 MEDICAL MALPRACTICE THAT LED TO 5317 03:41:28,280 --> 03:41:30,360 THE MODERN -- A GOOD THING CAME 5318 03:41:30,360 --> 03:41:32,280 OUT OF THAT BUT IT WAS PAINFUL 5319 03:41:32,280 --> 03:41:34,960 AND STILL A PSYCHOLOGICAL SCAR 5320 03:41:34,960 --> 03:41:36,400 FOR MANY AFRICAN-AMERICANS WHO 5321 03:41:36,400 --> 03:41:40,000 REMEMBERS WHAT HAPPENED THERE. 5322 03:41:40,000 --> 03:41:42,600 EXHIBIT B IS INDIVIDUALS LIKE 5323 03:41:42,600 --> 03:41:44,080 HENRIETTA LACKS. 5324 03:41:44,080 --> 03:41:45,280 WE HEARD HER STORY WHERE HER 5325 03:41:45,280 --> 03:41:46,320 CELLS WERE TAKEN FROM HER 5326 03:41:46,320 --> 03:41:49,240 WITHOUT HER PERMISSION AND USED 5327 03:41:49,240 --> 03:41:50,800 TO GO USED IN RESEARCH WITHOUT 5328 03:41:50,800 --> 03:41:51,880 HER PERMISSION AND WITHOUT 5329 03:41:51,880 --> 03:41:53,320 BENEFIT TO HER OR HER FAMILY. 5330 03:41:53,320 --> 03:41:55,520 SO THAT IS ANOTHER INSTANCE THAT 5331 03:41:55,520 --> 03:41:57,240 LED TO AN EROSION OF TRUST. 5332 03:41:57,240 --> 03:42:00,360 AND MOST IMPORTANTLY, IS IN 5333 03:42:00,360 --> 03:42:02,640 EVERYDAY LIFE, THE AVERAGE 5334 03:42:02,640 --> 03:42:03,760 AFRICAN-AMERICAN EXPERIENCES IN 5335 03:42:03,760 --> 03:42:05,720 THEIR HEALTH CARE INTERACTIONS 5336 03:42:05,720 --> 03:42:07,000 FEELING LIKE THEY ARE NOT 5337 03:42:07,000 --> 03:42:10,560 GETTING THE MOST OUT OF THE 5338 03:42:10,560 --> 03:42:11,040 SYSTEM, LEADS TO THAT 5339 03:42:11,040 --> 03:42:11,320 DESTRUCTION. 5340 03:42:11,320 --> 03:42:13,640 THEY ARE NOT BEING TAUGHT TO BY 5341 03:42:13,640 --> 03:42:15,800 HEME WHO LOOK LIKE THEM OR NOT 5342 03:42:15,800 --> 03:42:16,600 BEING ENGAGED PROPERLY. 5343 03:42:16,600 --> 03:42:17,920 THESE ARE THE THINGS WE NEED TO 5344 03:42:17,920 --> 03:42:19,800 ADDRESS IF WE ARE GOING TO MOVE 5345 03:42:19,800 --> 03:42:20,520 FORWARD. 5346 03:42:20,520 --> 03:42:22,240 THIS IS SOME OF THE WORK WE DO 5347 03:42:22,240 --> 03:42:24,600 IN THE COMMUNITY THROUGH MY 5348 03:42:24,600 --> 03:42:25,520 NON-PROFIT ORGANIZATION. 5349 03:42:25,520 --> 03:42:27,320 WE WORK WITH CHURCHES AND OTHER 5350 03:42:27,320 --> 03:42:29,320 CIVIC GROUPS TO TALK TO 5351 03:42:29,320 --> 03:42:30,760 INDIVIDUALS IN CHURCH ABOUT 5352 03:42:30,760 --> 03:42:32,000 GENOMICS AND PRECISION MEDICINE. 5353 03:42:32,000 --> 03:42:33,680 THE REASON WHY I FEEL LIKE THAT 5354 03:42:33,680 --> 03:42:36,440 IS A VERY POWERFUL APPROACH IS 5355 03:42:36,440 --> 03:42:38,440 BECAUSE FOR AFRICAN-AMERICANS, 5356 03:42:38,440 --> 03:42:40,040 THE CHURCH IS ALWAYS BEEN A SAFE 5357 03:42:40,040 --> 03:42:40,240 PLACE. 5358 03:42:40,240 --> 03:42:42,000 IF YOU GO ALL THE WAY BACK TO 5359 03:42:42,000 --> 03:42:43,640 THE DAYS OF SLAVERY, PLACES 5360 03:42:43,640 --> 03:42:45,840 WHERE AFRICAN-AMERICANS CAN 5361 03:42:45,840 --> 03:42:47,840 SAFELY GATHER WERE RARE BUT THE 5362 03:42:47,840 --> 03:42:48,640 CHURCH WAS ONE OF THEM. 5363 03:42:48,640 --> 03:42:51,280 IT'S NO COINCIDENCE TO ME THE 5364 03:42:51,280 --> 03:42:52,040 CIVIL RIGHTS MOVEMENT IS ROOTED 5365 03:42:52,040 --> 03:42:53,760 OUT OF THE CHURCH AND LED BY A 5366 03:42:53,760 --> 03:42:54,480 PREACHER. 5367 03:42:54,480 --> 03:42:55,680 BECAUSE THESE ARE TRUSTED VOICES 5368 03:42:55,680 --> 03:42:56,720 IN THE COMMUNITY. 5369 03:42:56,720 --> 03:42:58,120 SO I THINK THAT WE ARE GOING TO 5370 03:42:58,120 --> 03:43:00,160 NEED TO CONTINUE TO ENGAGE 5371 03:43:00,160 --> 03:43:02,520 TRUSTED VOICES IN THE MEDICAL 5372 03:43:02,520 --> 03:43:04,320 COMMUNITY WITHIN THE CONTEXT OF 5373 03:43:04,320 --> 03:43:05,720 THE CHURCH AND CREATE THESE 5374 03:43:05,720 --> 03:43:06,680 HONEST BROKERS. 5375 03:43:06,680 --> 03:43:08,000 THAT'S WHAT WE CALL THE FOLKS 5376 03:43:08,000 --> 03:43:10,600 WHO ARE COMMUNICATING FOR US. 5377 03:43:10,600 --> 03:43:11,680 SCIENTISTS OF COLOR WHO ARE ALSO 5378 03:43:11,680 --> 03:43:13,200 IN MANY CASES PEOPLE OF FAITH, 5379 03:43:13,200 --> 03:43:15,440 WHO ARE FROM THE COMMUNITIES 5380 03:43:15,440 --> 03:43:15,880 THEY ARE TALKING TO. 5381 03:43:15,880 --> 03:43:17,600 WE FOUND THAT THAT HAS BEEN A 5382 03:43:17,600 --> 03:43:18,520 VERY EFFECTIVE STRATEGY FOR 5383 03:43:18,520 --> 03:43:21,640 REBUILDING TRUST IN THE 5384 03:43:21,640 --> 03:43:21,920 COMMUNITY. 5385 03:43:21,920 --> 03:43:23,440 CURRENTLY WE ARE DOING AN 5386 03:43:23,440 --> 03:43:25,480 OUTREACH PROJECT WITH THE NIH 5387 03:43:25,480 --> 03:43:27,840 ALL OF US PROGRAM, WHERE WE ARE 5388 03:43:27,840 --> 03:43:28,360 SHARING INFORMATION ABOUT 5389 03:43:28,360 --> 03:43:29,280 GENETICS AND HEALTH AND 5390 03:43:29,280 --> 03:43:32,000 ENCOURAGING ALL OUR MINORITY 5391 03:43:32,000 --> 03:43:33,280 CITIZENS TO PARTICIPATE IN THE 5392 03:43:33,280 --> 03:43:33,520 PROGRAM. 5393 03:43:33,520 --> 03:43:35,840 STAY TUNED FOR THAT AND I'LL 5394 03:43:35,840 --> 03:43:38,960 SHARE MORE INFORMATION LATER. 5395 03:43:38,960 --> 03:43:40,320 SO WHAT ARE SOME STRATEGIES ON 5396 03:43:40,320 --> 03:43:43,680 HOW WE CAN REALLY OVERCOME THIS 5397 03:43:43,680 --> 03:43:43,960 DISTRUST? 5398 03:43:43,960 --> 03:43:45,400 THAT IS SOMETHING I SPEND A LOT 5399 03:43:45,400 --> 03:43:48,600 OF TIME UP AT NIGHT THINKING 5400 03:43:48,600 --> 03:43:48,800 ABOUT. 5401 03:43:48,800 --> 03:43:51,000 SOME OF THE THINGS I LEARNED 5402 03:43:51,000 --> 03:43:51,640 FROM THE DIFFERENT EXPERIENCES 5403 03:43:51,640 --> 03:43:53,760 I'VE HAD, IS IF WE HIGHLIGHT THE 5404 03:43:53,760 --> 03:43:56,240 HEALTH BENEFITS THAT MINORITY 5405 03:43:56,240 --> 03:43:57,160 PATIENTS HAVE SEEN THUS FAR DUE 5406 03:43:57,160 --> 03:43:58,760 TO ADVANCES IN SCIENCE AND 5407 03:43:58,760 --> 03:43:59,440 BIOMEDICAL RESEARCH, THEN WE 5408 03:43:59,440 --> 03:44:01,560 MIGHT START TO BEGIN TO 5409 03:44:01,560 --> 03:44:03,280 UNDERSTAND WHY PEOPLE SHOULD 5410 03:44:03,280 --> 03:44:03,720 PARTICIPATE. 5411 03:44:03,720 --> 03:44:05,160 I ALWAYS FEEL LIKE AS A 5412 03:44:05,160 --> 03:44:06,920 SCIENTIST OR A DOCTOR, JUST 5413 03:44:06,920 --> 03:44:08,800 ASKING YOU FOR YOUR SAMPLE IS 5414 03:44:08,800 --> 03:44:10,840 SOMETHING THAT IS VERY COLD. 5415 03:44:10,840 --> 03:44:12,560 WHEREAS IF I SAY THAT, I WANT TO 5416 03:44:12,560 --> 03:44:13,840 DO RESEARCH THAT IS GOING TO 5417 03:44:13,840 --> 03:44:15,800 IMPROVE YOUR HEALTH AND HERE ARE 5418 03:44:15,800 --> 03:44:17,320 SOME EXAMPLES OF HOW THAT HAS 5419 03:44:17,320 --> 03:44:18,880 HAPPENED, THAT'S A DIFFERENT AND 5420 03:44:18,880 --> 03:44:20,320 MORE WARM APPROACH. 5421 03:44:20,320 --> 03:44:21,720 OUR APPROACH THAT I FEEL HAS 5422 03:44:21,720 --> 03:44:23,000 BEEN VERY EFFECTIVE IS TO 5423 03:44:23,000 --> 03:44:26,720 PROVIDE WHAT WE CALL, CULTURALLY 5424 03:44:26,720 --> 03:44:27,320 CONGRUENT HONEST BROKERS THAT 5425 03:44:27,320 --> 03:44:30,240 CAN BE TRUSTED SOURCES OF 5426 03:44:30,240 --> 03:44:31,600 SCIENTIFIC INFORMATION FOR 5427 03:44:31,600 --> 03:44:32,600 AFRICAN-AMERICANS AND OTHER 5428 03:44:32,600 --> 03:44:35,120 MINORITIES WHO LACK TRUST. 5429 03:44:35,120 --> 03:44:35,680 LITERALLY HAVING PEOPLE THAT 5430 03:44:35,680 --> 03:44:37,480 LOOK LIKE YOU THAT ARE FROM THE 5431 03:44:37,480 --> 03:44:38,760 COMMUNITY THAT ARE SCIENTISTS 5432 03:44:38,760 --> 03:44:41,800 AND DOCTORS TALKING TO YOU AND 5433 03:44:41,800 --> 03:44:42,360 SHARING INFORMATION IN A WAY 5434 03:44:42,360 --> 03:44:43,240 THAT MAKES YOU FEEL MOST 5435 03:44:43,240 --> 03:44:43,520 COMFORTABLE. 5436 03:44:43,520 --> 03:44:45,960 THAT IS VERY EFFECTIVE. 5437 03:44:45,960 --> 03:44:46,640 AND THEN FINALLY THE PIECE I'M 5438 03:44:46,640 --> 03:44:49,760 MOST EXCITED ABOUT AND I'M GOING 5439 03:44:49,760 --> 03:44:51,840 TO END ON, TRAINING A NEW 5440 03:44:51,840 --> 03:44:54,360 GENERATION OF DIVERSE SCIENTISTS 5441 03:44:54,360 --> 03:44:55,360 WHO WILL COME AND HELP US 5442 03:44:55,360 --> 03:44:57,000 ADDRESS RACISM AT THE HIGHEST 5443 03:44:57,000 --> 03:44:59,080 LEVELS OF ACADEMIA, INDUSTRY AND 5444 03:44:59,080 --> 03:45:01,920 GOVERNMENT TO CREATE A TRULY 5445 03:45:01,920 --> 03:45:03,080 LEVEL PLAYING FIELD. 5446 03:45:03,080 --> 03:45:05,160 KEEPING IN MIND MAJORITY 5447 03:45:05,160 --> 03:45:06,480 MINORITY UNDER THE AGE OF 16 5448 03:45:06,480 --> 03:45:06,960 NOW. 5449 03:45:06,960 --> 03:45:08,720 WE ARE COUNTING ON THE FUTURE 5450 03:45:08,720 --> 03:45:10,560 TO -- FUTURE GENERATIONS TO HELP 5451 03:45:10,560 --> 03:45:12,600 US INVOLVE THIS PROBLEM. 5452 03:45:12,600 --> 03:45:14,480 SO HOW ARE WE DOING THAT? 5453 03:45:14,480 --> 03:45:15,680 THIS IS THE PART THAT MAKES ME 5454 03:45:15,680 --> 03:45:17,120 THE MOST EXCITED AND I'LL END ON 5455 03:45:17,120 --> 03:45:18,000 THIS. 5456 03:45:18,000 --> 03:45:19,360 TRAINING THE NEXT GENERATION OF 5457 03:45:19,360 --> 03:45:20,680 MINORITY SCIENTISTS IS SOMETHING 5458 03:45:20,680 --> 03:45:21,800 THAT WE SHOULD ALL BE ENGAGED IN 5459 03:45:21,800 --> 03:45:23,760 AND I HAVE TO SAY IT'S BEEN A 5460 03:45:23,760 --> 03:45:25,360 GREAT PRIVILEGE AND PASSION OF 5461 03:45:25,360 --> 03:45:27,120 MINE TO BE SOMEONE WHO HAS BEEN 5462 03:45:27,120 --> 03:45:28,560 ABLE TO REACH BACK TO THE 5463 03:45:28,560 --> 03:45:29,520 YOUNGER GENERATIONS AND BEGIN TO 5464 03:45:29,520 --> 03:45:31,120 TRAIN THEM ON HOW TO DO THE KIND 5465 03:45:31,120 --> 03:45:33,840 OF REACH THAT WILL SOLVE THE 5466 03:45:33,840 --> 03:45:35,280 CURES FOR TODAY'S RARE DISEASES 5467 03:45:35,280 --> 03:45:38,560 AND TOMORROW'S RARE DISEASES. 5468 03:45:38,560 --> 03:45:40,880 THESE ARE MINUTURE KINGS. 5469 03:45:40,880 --> 03:45:42,680 OUR FUTURE KINGS BIOMEDICAL 5470 03:45:42,680 --> 03:45:44,320 TRAINING PROGRAM, MY YOUNG MEN 5471 03:45:44,320 --> 03:45:46,000 HERE IN THE DC AREA. 5472 03:45:46,000 --> 03:45:47,160 IT'S A BIOMEDICAL RESEARCH 5473 03:45:47,160 --> 03:45:48,440 TRAINING PROGRAM THAT GOES 5474 03:45:48,440 --> 03:45:49,760 THROUGHOUT THE YEAR. 5475 03:45:49,760 --> 03:45:51,400 WE MEET EVERY OTHER SATURDAY AND 5476 03:45:51,400 --> 03:45:55,240 THESE YOUNG MEN, MY STAR 5477 03:45:55,240 --> 03:45:56,960 RESEARCHERS HERE WHO ARE DOING 5478 03:45:56,960 --> 03:45:58,160 GENETICS-BASED RESEARCH. 5479 03:45:58,160 --> 03:46:01,480 THEY ARE IN A GENETICS LAB. 5480 03:46:01,480 --> 03:46:03,720 THIS IS MY SON, HE CAN'T EVEN 5481 03:46:03,720 --> 03:46:05,240 FIT IN HIS LAB COAT. 5482 03:46:05,240 --> 03:46:08,120 HE IS 12 YEARS OLD, THE YOUNGEST 5483 03:46:08,120 --> 03:46:08,280 GUY. 5484 03:46:08,280 --> 03:46:09,640 THEY ARE DOING RESEARCH ON RARE 5485 03:46:09,640 --> 03:46:10,760 DISEASE RIGHT NOW. 5486 03:46:10,760 --> 03:46:11,720 AND I'M GOING TO TELL YOU ABOUT 5487 03:46:11,720 --> 03:46:13,160 SOME OF THE THINGS THAT THEY ARE 5488 03:46:13,160 --> 03:46:15,160 DOING. 5489 03:46:15,160 --> 03:46:15,760 THEY ARE DOING NEXT-GENERATION 5490 03:46:15,760 --> 03:46:18,200 SEQUENCING AND RUNNING 5491 03:46:18,200 --> 03:46:19,640 BIOINFORMATIC ANALYSIS AND THESE 5492 03:46:19,640 --> 03:46:21,520 ARE ALL KIDS AGES 12-18. 5493 03:46:21,520 --> 03:46:23,840 SO IF WE ARE STARTING THE NEXT 5494 03:46:23,840 --> 03:46:24,600 GENERATION OFF ON THIS PATH, 5495 03:46:24,600 --> 03:46:26,200 THEN WE ARE GOING TO BE IN MUCH 5496 03:46:26,200 --> 03:46:29,120 BETTER SHAPE AS I GET OLDER. 5497 03:46:29,120 --> 03:46:31,480 THIS IS A PROJECT THAT THE YOUNG 5498 03:46:31,480 --> 03:46:33,280 MEN CAME UP WITH. 5499 03:46:33,280 --> 03:46:35,000 PROJECT HELP MARCELES. 5500 03:46:35,000 --> 03:46:37,000 I HAVE MARCELES HERE IN THE 5501 03:46:37,000 --> 03:46:37,240 AUDIENCE. 5502 03:46:37,240 --> 03:46:38,520 HE IS ONE OF THE YOUNG FUTURE 5503 03:46:38,520 --> 03:46:40,080 KINGS. 5504 03:46:40,080 --> 03:46:42,920 HE STRUGGLED WITH A RARE 5505 03:46:42,920 --> 03:46:43,240 DISEASE. 5506 03:46:43,240 --> 03:46:44,840 CAN YOU STAND UP SO EVERYBODY 5507 03:46:44,840 --> 03:46:50,840 CAN SEE YOU? 5508 03:46:50,840 --> 03:46:52,520 [ APPLAUSE ] 5509 03:46:52,520 --> 03:46:53,760 MARCELLUS AND HIS MOM ARE HERE. 5510 03:46:53,760 --> 03:46:55,920 BUT WHEN HE WAS TALKING TO HIS 5511 03:46:55,920 --> 03:46:57,520 FELLOW FUTURE KINGS ABOUT HIS 5512 03:46:57,520 --> 03:46:58,560 ISSUE, THEY SAID, CAN'T WE HELP 5513 03:46:58,560 --> 03:46:58,840 HIM? 5514 03:46:58,840 --> 03:47:00,840 CAN WE COME UP WITH A RESEARCH 5515 03:47:00,840 --> 03:47:01,640 PROJECT TO HELP HIM? 5516 03:47:01,640 --> 03:47:04,640 I'M LIKE SURE WE CAN. 5517 03:47:04,640 --> 03:47:06,840 SO WE HIT A JOURNAL CLUB AND 5518 03:47:06,840 --> 03:47:09,200 PRESENTED THIS PAPER THAT TALKED 5519 03:47:09,200 --> 03:47:11,080 ABOUT GENES ASSOCIATED WITH 5520 03:47:11,080 --> 03:47:11,280 THIS. 5521 03:47:11,280 --> 03:47:12,720 ONE OF THE GENES WE DECIDED TO 5522 03:47:12,720 --> 03:47:14,520 CLONE WAS THE TSLP GENE. 5523 03:47:14,520 --> 03:47:16,040 PART OF THE PROJECT THEY CAME UP 5524 03:47:16,040 --> 03:47:17,840 WITH IS THEY ARE GOING TO CLONE 5525 03:47:17,840 --> 03:47:19,040 THIS GENE AND TRY TO CHANGE ITS 5526 03:47:19,040 --> 03:47:20,680 EXPRESSION INSIDE OF CELLS TO 5527 03:47:20,680 --> 03:47:23,200 SEE IF THEY CAN COME UP WITH A 5528 03:47:23,200 --> 03:47:23,400 BASIS. 5529 03:47:23,400 --> 03:47:24,480 AND THAT'S EXACTLY WHAT WE ARE 5530 03:47:24,480 --> 03:47:24,680 DOING. 5531 03:47:24,680 --> 03:47:27,280 WE ARE CLONING ONE OF THESE 5532 03:47:27,280 --> 03:47:29,200 GENES THAT IS INVOLVED IN THE 5533 03:47:29,200 --> 03:47:31,760 IMMUNOLOGICAL PATHWAY THAT LEADS 5534 03:47:31,760 --> 03:47:32,160 TO THIS DISEASE. 5535 03:47:32,160 --> 03:47:34,960 AND THEY ARE GOING TO BE DOING 5536 03:47:34,960 --> 03:47:36,200 THIS AS THEIR RESEARCH PROJECT 5537 03:47:36,200 --> 03:47:37,560 THIS YEAR. 5538 03:47:37,560 --> 03:47:40,360 THE STUDENTS WILL BE DESIGNING 5539 03:47:40,360 --> 03:47:42,600 LENTIVIRAL VECTORS EXPRESSING 5540 03:47:42,600 --> 03:47:46,040 DIFFERENT ISOFORMS AND TARGET 5541 03:47:46,040 --> 03:47:46,800 SHRNAs TO KNOCK DOWN THIS GENE 5542 03:47:46,800 --> 03:47:50,000 AND THEN PARTNER WITH LABS HAVE 5543 03:47:50,000 --> 03:47:53,080 AND THOSE VECTORS MADE AND THEN 5544 03:47:53,080 --> 03:47:55,240 MEASURE THEIR LEVELS, THE CHANGE 5545 03:47:55,240 --> 03:47:56,720 OF GENE EXPRESSION. 5546 03:47:56,720 --> 03:47:58,920 SO MY BOYS ARE ALL GOING TO 5547 03:47:58,920 --> 03:48:00,400 LEARN THIS AS PART OF A RESEARCH 5548 03:48:00,400 --> 03:48:02,080 TEAM TO HELP MARCELLUS. 5549 03:48:02,080 --> 03:48:03,160 SO PLEASE WISH US WELL ON THIS 5550 03:48:03,160 --> 03:48:06,880 PROJECT TO HELP MARCELLUS. 5551 03:48:06,880 --> 03:48:09,280 [ APPLAUSE ] 5552 03:48:09,280 --> 03:48:11,560 AND AN EXAMPLE OF WHAT WE CAN DO 5553 03:48:11,560 --> 03:48:13,520 WHEN WE INVEST IN OUR YOUTH AND 5554 03:48:13,520 --> 03:48:15,800 EXPOSE THEM TO SCIENCE EARLY. 5555 03:48:15,800 --> 03:48:16,440 I'M SO PROUD OF PROGRAMS LIKE 5556 03:48:16,440 --> 03:48:18,240 FUTURE KINGS BECAUSE IT HELPS US 5557 03:48:18,240 --> 03:48:21,120 RECRUIT THESE YOUNG MEN TO THESE 5558 03:48:21,120 --> 03:48:22,480 DIFFERENT STEM CAREERS TO DESIGN 5559 03:48:22,480 --> 03:48:23,320 PROGRAMS THAT MEET THEIR NEEDS 5560 03:48:23,320 --> 03:48:24,640 IN LEARNING AND AUGMENT WHEN 5561 03:48:24,640 --> 03:48:27,000 THEY ARE LEARNING IN SCHOOL AND 5562 03:48:27,000 --> 03:48:27,640 PRODUCING THE NEXT GENERATION OF 5563 03:48:27,640 --> 03:48:28,040 SCHOLARS. 5564 03:48:28,040 --> 03:48:30,280 OUR KIDS ARE GOING TO SOME 5565 03:48:30,280 --> 03:48:30,880 AMAZING SCHOOLS WHEN THEY 5566 03:48:30,880 --> 03:48:31,480 GRADUATE. 5567 03:48:31,480 --> 03:48:34,960 YALE, JOHNS HOPKINS, BCU, 5568 03:48:34,960 --> 03:48:35,640 MOREHOUSE AND THEY WERE LABELED 5569 03:48:35,640 --> 03:48:36,920 AT RISK. 5570 03:48:36,920 --> 03:48:38,080 SO MY MESSAGE TO US IS INVEST IN 5571 03:48:38,080 --> 03:48:40,000 PROGRAMS LIKE THIS AND CONTINUE 5572 03:48:40,000 --> 03:48:42,320 THE GREAT WORK IN THE COMMUNITY 5573 03:48:42,320 --> 03:48:45,240 NOT ONLY TO IMPROVE DIVERSITY IN 5574 03:48:45,240 --> 03:48:46,400 GENOMICS BUT OUR UNDERSTANDING 5575 03:48:46,400 --> 03:48:46,880 OF RARE DISEASE. 5576 03:48:46,880 --> 03:48:48,040 THANK YOU ALL. 5577 03:48:48,040 --> 03:48:52,640 [ APPLAUSE ] 5578 03:48:52,640 --> 03:48:53,080 >> THANK YOU VERY MUCH. 5579 03:48:53,080 --> 03:48:54,640 IT'S REALLY AN HONOR AND 5580 03:48:54,640 --> 03:48:57,080 PLEASURE TO BE HERE SPEAKING 5581 03:48:57,080 --> 03:48:57,560 TODAY. 5582 03:48:57,560 --> 03:48:59,480 MY TOPIC IS CONSIDERING IMPACT 5583 03:48:59,480 --> 03:49:01,360 ON GENETIC VARIATION ON SAFETY 5584 03:49:01,360 --> 03:49:04,520 AND OFF-TARGET ACTIVITY OF 5585 03:49:04,520 --> 03:49:09,200 GENOME EDITORS. 5586 03:49:09,200 --> 03:49:11,000 HERE IS MY QUICK CONFLICT OF 5587 03:49:11,000 --> 03:49:13,560 INTEREST DISCLOSURE SLIDE. 5588 03:49:13,560 --> 03:49:16,280 MY LAB WORKS ON GENOME EDITING 5589 03:49:16,280 --> 03:49:16,760 TECHNOLOGIES. 5590 03:49:16,760 --> 03:49:20,080 THE GOAL OF THIS IS TAKING THE 5591 03:49:20,080 --> 03:49:25,840 GENOMES OF LIVING CELLS AND THE 5592 03:49:25,840 --> 03:49:26,000 DNA. 5593 03:49:26,000 --> 03:49:26,760 HERE IS EDITING OR UNDERSTANDING 5594 03:49:26,760 --> 03:49:28,080 THE DNA. 5595 03:49:28,080 --> 03:49:31,680 AND ONE ASPECT IS FOR WHICH WE 5596 03:49:31,680 --> 03:49:34,480 AND MANY OTHERS HAVE BEEN 5597 03:49:34,480 --> 03:49:36,720 EXCITED ABOUT IS THE POTENTIAL 5598 03:49:36,720 --> 03:49:38,400 FOR CURATIVE GENETIC THERAPIES. 5599 03:49:38,400 --> 03:49:40,160 SO FOR CONDITIONS YOU MIGHT SEE 5600 03:49:40,160 --> 03:49:41,880 HERE ON THE LEFT COMMON GENETIC 5601 03:49:41,880 --> 03:49:43,320 CONDITIONS AND THEN WE HAVE A 5602 03:49:43,320 --> 03:49:50,760 LOT OF FOCUS AT ST. JUDE ON 5603 03:49:50,760 --> 03:49:52,360 CURATIVE FOR SICKLE CELL 5604 03:49:52,360 --> 03:49:53,040 DISEASE. 5605 03:49:53,040 --> 03:49:54,840 PRETTY COMMON GENETIC DISORDER 5606 03:49:54,840 --> 03:50:00,560 OR CANCER THERAPIES. 5607 03:50:00,560 --> 03:50:02,040 WE ARE IN A REALLY INSPIRING ERA 5608 03:50:02,040 --> 03:50:03,600 OF GENOMIC MEDICINES. 5609 03:50:03,600 --> 03:50:04,960 HERE IS SOME EXAMPLES OF THIS 5610 03:50:04,960 --> 03:50:07,080 FOR CONDITIONS LIKE SICKLE CELL 5611 03:50:07,080 --> 03:50:09,720 DISEASE AND FROM A NUMBER OF 5612 03:50:09,720 --> 03:50:10,920 DIFFERENT COMPANIES. 5613 03:50:10,920 --> 03:50:12,640 YOU CAN SEE HERE. 5614 03:50:12,640 --> 03:50:15,200 I'M SHOWING YOU HERE ON THE LEFT 5615 03:50:15,200 --> 03:50:16,800 THE PHOTO OF VICTORIA GRAY, ONE 5616 03:50:16,800 --> 03:50:24,200 OF THE FIRST PATIENTS DOSED ON A 5617 03:50:24,200 --> 03:50:26,360 THERAPY FOR SICKLE CELL DISEASE 5618 03:50:26,360 --> 03:50:27,320 FOR CRISPR THERAPEUTICS. 5619 03:50:27,320 --> 03:50:29,880 THIS IS SHOWING REMARKABLE 5620 03:50:29,880 --> 03:50:31,240 EFFICACY SO. 5621 03:50:31,240 --> 03:50:33,040 THIS IS THE FIRST OF A NUMBER OF 5622 03:50:33,040 --> 03:50:34,240 PROMISING TREATMENTS THAT ARE 5623 03:50:34,240 --> 03:50:34,640 DEVELOPING. 5624 03:50:34,640 --> 03:50:36,720 SO WE ARE ALSO TRYING TO MOVE 5625 03:50:36,720 --> 03:50:41,280 FORWARD IN CLINICAL TRIAL FOR 5626 03:50:41,280 --> 03:50:47,240 TREATMENT OF SICKLE AT ST. JUDE. 5627 03:50:47,240 --> 03:50:47,800 BUT THERE ALSO REMAIN UNMET 5628 03:50:47,800 --> 03:50:50,600 NEEDS FOR PATIENTS WITH OTHER 5629 03:50:50,600 --> 03:50:51,960 RARE DISEASES. 5630 03:50:51,960 --> 03:50:53,720 PATIENTS WITH SEVERE DISEASE AND 5631 03:50:53,720 --> 03:50:55,840 GENETIC MUTATIONS OFTEN FROM 5632 03:50:55,840 --> 03:50:59,680 UNDER SERVED POPULATIONS WITHOUT 5633 03:50:59,680 --> 03:51:02,120 AVAILABLE ALLOGENEIC STEM CELL 5634 03:51:02,120 --> 03:51:02,400 TRANSPLANTS. 5635 03:51:02,400 --> 03:51:03,680 SOME OF THE THINGS WE ARE 5636 03:51:03,680 --> 03:51:05,760 THINKING ABOUT IS BONE MARROW 5637 03:51:05,760 --> 03:51:09,880 DISORDERS AND OTHER NON 5638 03:51:09,880 --> 03:51:10,360 MALIGNANT CONDITIONS. 5639 03:51:10,360 --> 03:51:13,000 AND I THINK ONE OF THE ASPECTS 5640 03:51:13,000 --> 03:51:14,680 THAT IS FRUSTRATING TO US AND 5641 03:51:14,680 --> 03:51:18,120 MANY OTHER CARETAKERS THIS IDEA 5642 03:51:18,120 --> 03:51:19,920 YOU KNOW THE DISEASE-CAUSING 5643 03:51:19,920 --> 03:51:21,120 MUTATIONS AND THAT THERE IS NOT 5644 03:51:21,120 --> 03:51:22,640 REALLY CLEAR THINGS YOU CAN DO 5645 03:51:22,640 --> 03:51:23,280 ABOUT IT YET. 5646 03:51:23,280 --> 03:51:25,240 SO WHAT ARE THE THINGS WE MIGHT 5647 03:51:25,240 --> 03:51:27,160 BE ABLE TO DO? 5648 03:51:27,160 --> 03:51:28,920 AND SO PERSONIDES GENOME EDITING 5649 03:51:28,920 --> 03:51:31,240 IS AN IDEA THAT YOU MIGHT BE 5650 03:51:31,240 --> 03:51:33,680 ABLE TO CORRECT USE PATIENT'S 5651 03:51:33,680 --> 03:51:34,400 SPECIFIC DISEASE MUTATIONS. 5652 03:51:34,400 --> 03:51:36,280 THIS THE IS A GOAL WE ASPIRE TO 5653 03:51:36,280 --> 03:51:39,760 WITH THE SKY PROJECT CALLING 5654 03:51:39,760 --> 03:51:40,040 PARADIGM. 5655 03:51:40,040 --> 03:51:42,640 WE WILL DO THIS IN THE NEXT FEW 5656 03:51:42,640 --> 03:51:42,840 YEARS. 5657 03:51:42,840 --> 03:51:47,200 THE ASPECT OF THIS IDEA THEY CAN 5658 03:51:47,200 --> 03:51:48,280 BE PROGRAMMED USING MOLECULESY 5659 03:51:48,280 --> 03:51:50,640 SO YOU MIGHT BE ABLE TO SIMPLY 5660 03:51:50,640 --> 03:51:52,720 CHANGE THIS MOLECULE TO TARGET 5661 03:51:52,720 --> 03:51:58,960 NEW DISEASE MUTATIONS. 5662 03:51:58,960 --> 03:52:00,720 APPROACHES TARGETING CELL TYPES. 5663 03:52:00,720 --> 03:52:04,440 WE MY BE ABLE TO COMBINE OUR 5664 03:52:04,440 --> 03:52:06,240 UNDERSTANDING ABOUT EDITORS IN A 5665 03:52:06,240 --> 03:52:06,800 EFFICIENT REGULATORY PATH TO 5666 03:52:06,800 --> 03:52:08,280 ACHIEVE THESE TYPES OF GENOME 5667 03:52:08,280 --> 03:52:11,880 EDITING THERAPIES. 5668 03:52:11,880 --> 03:52:12,840 ONE IMPORTANT QUESTION IS HOW DO 5669 03:52:12,840 --> 03:52:16,000 WE ENSURE THAT THESE TYPES OF 5670 03:52:16,000 --> 03:52:17,080 GENOMIC THERAPIES ARE SAFE FOR 5671 03:52:17,080 --> 03:52:17,360 EVERYONE? 5672 03:52:17,360 --> 03:52:20,080 SO WE OFTEN HAVE EX-VIVO OR 5673 03:52:20,080 --> 03:52:22,280 IN-VIVO TYPE OF APPROACHES WHERE 5674 03:52:22,280 --> 03:52:24,160 HUNDREDS OF MILLIONS OF CELLS 5675 03:52:24,160 --> 03:52:26,800 MIGHT BE MODIFIED. 5676 03:52:26,800 --> 03:52:27,440 SYSTEMATIC LOW FREQUENCY 5677 03:52:27,440 --> 03:52:29,520 OFF-TARGET OR UNINTENDED 5678 03:52:29,520 --> 03:52:32,040 MUTATIONS MIGHT BE RELEVANT IF 5679 03:52:32,040 --> 03:52:33,080 THEY INCREASE GROWTH IN 5680 03:52:33,080 --> 03:52:34,320 ONCOGENIC RISK. 5681 03:52:34,320 --> 03:52:36,360 AND AGAIN, AS HAS BEEN 5682 03:52:36,360 --> 03:52:37,360 MENTIONED, EVERYONE'S GENOME IS 5683 03:52:37,360 --> 03:52:40,280 DIFFERENT. 5684 03:52:40,280 --> 03:52:41,120 MILLIONS OF DIFFERENCES FROM 5685 03:52:41,120 --> 03:52:41,920 INDIVIDUAL TO INDIVIDUAL. 5686 03:52:41,920 --> 03:52:42,600 SO HOW DO WE ACCOUNT FOR THAT IN 5687 03:52:42,600 --> 03:52:43,880 THESE THERAPIES? 5688 03:52:43,880 --> 03:52:47,080 AND SO, THAT'S WHAT MOTIVATED US 5689 03:52:47,080 --> 03:52:49,480 TO DEVELOP THESE GENOME SCALE 5690 03:52:49,480 --> 03:52:51,240 APPROACHES TO UNDERSTANDING WHAT 5691 03:52:51,240 --> 03:52:53,600 GENOME EDITORS DO. 5692 03:52:53,600 --> 03:52:54,360 WE ARE INTERESTED IN THIS 5693 03:52:54,360 --> 03:52:55,880 QUESTION, WHAT HAS CHANGED WITH 5694 03:52:55,880 --> 03:52:58,080 GENOME EDITING? 5695 03:52:58,080 --> 03:53:00,880 WE WANT TO AVOID OBSERVATIONAL 5696 03:53:00,880 --> 03:53:02,600 BIAS WHICH IS THE STREET LIGHT 5697 03:53:02,600 --> 03:53:03,320 EFFECT AND REPRESENTATION BIAS. 5698 03:53:03,320 --> 03:53:05,800 THE STREET LIGHT EFFECT IS THIS 5699 03:53:05,800 --> 03:53:08,040 VERY NATURAL TENANCY FOR HUMANS 5700 03:53:08,040 --> 03:53:09,360 AND SCIENTISTS AS HUMANS, TO TRY 5701 03:53:09,360 --> 03:53:11,400 TO LOOK WHERE THE LIGHT IS 5702 03:53:11,400 --> 03:53:11,600 BETTER. 5703 03:53:11,600 --> 03:53:13,040 YOU MIGHT MARGIN LOOKING FOR 5704 03:53:13,040 --> 03:53:14,920 YOUR KEYS IN A PARKING LOT, 5705 03:53:14,920 --> 03:53:17,280 YOU'RE LIKELY TO LOOK HERE BUT 5706 03:53:17,280 --> 03:53:20,200 YOU MIGHT MISS YOUR KEYS THERE. 5707 03:53:20,200 --> 03:53:23,560 SO IF YOU IMAGINE THE PARKING 5708 03:53:23,560 --> 03:53:28,360 LOT, THEN A LOT OF OUR APPROA 5709 03:53:28,360 --> 03:53:29,280 APPROACHES IS LIKE MIGHT BE 5710 03:53:29,280 --> 03:53:29,480 BIAS. 5711 03:53:29,480 --> 03:53:32,440 ANOTHER TYPE OF BIAS THAT MIGHT 5712 03:53:32,440 --> 03:53:35,720 BE LESS OBVIOUS IS 5713 03:53:35,720 --> 03:53:38,480 REPRESENTATION BIAS WHERE A LOT 5714 03:53:38,480 --> 03:53:41,560 OF THE GENOMES FOR PEOPLE OF 5715 03:53:41,560 --> 03:53:42,520 EUROPEAN DECENT. 5716 03:53:42,520 --> 03:53:44,640 MAYBE THEY ARE REPRESENTATION IN 5717 03:53:44,640 --> 03:53:47,600 THESE GENOMIC SEQUENCES MIGHT 5718 03:53:47,600 --> 03:53:50,120 LEAD TO OTHER TYPES OF 5719 03:53:50,120 --> 03:53:50,400 SEQUENCES. 5720 03:53:50,400 --> 03:53:51,240 IT'S REALLY IMPORTANT TO LOOK 5721 03:53:51,240 --> 03:53:52,680 BEYOND PRE CONCEIVED ASSUMPTIONS 5722 03:53:52,680 --> 03:53:58,440 IN WORKING ON THESE THERAPIES. 5723 03:53:58,440 --> 03:54:02,080 SO THESE UNBIASED -- AIM TO 5724 03:54:02,080 --> 03:54:02,680 ADDRESS TWO POSSIBLE BLINDSPOTS 5725 03:54:02,680 --> 03:54:05,720 IN OUR UNDERSTANDING OF SAFETY. 5726 03:54:05,720 --> 03:54:06,840 ONE IS WHAT ARE THE UNINTENDED 5727 03:54:06,840 --> 03:54:08,520 OFF-TARGET MUTATIONS THAT ARE 5728 03:54:08,520 --> 03:54:11,640 INTRODUCED BY GENOME EDITORS, ON 5729 03:54:11,640 --> 03:54:13,960 OTHER SPOTS IN THE GEGENOME. 5730 03:54:13,960 --> 03:54:16,200 AND THEN ALSO, HOW OFTEN AND HOW 5731 03:54:16,200 --> 03:54:18,240 MUCH DOES INDIVIDUAL GENETIC 5732 03:54:18,240 --> 03:54:22,920 VARIATION CHANGE THIS OFF-TARGET 5733 03:54:22,920 --> 03:54:23,880 ACTIVITY? 5734 03:54:23,880 --> 03:54:26,320 SO, I'M SHOWING YOU HERE A CHART 5735 03:54:26,320 --> 03:54:28,960 FROM THE HOLLYWOOD DIVERSITY 5736 03:54:28,960 --> 03:54:30,200 PROJECT WHERE THEY ARE LOOKING 5737 03:54:30,200 --> 03:54:31,560 AT THE REPRESENTATIONS GAP IN 5738 03:54:31,560 --> 03:54:32,600 THE FILM. 5739 03:54:32,600 --> 03:54:33,800 YOU LOG ON TO NETFLIX AND YOU 5740 03:54:33,800 --> 03:54:38,840 SEE THINGS LIKE REPRESENTATION 5741 03:54:38,840 --> 03:54:39,120 PATTERNS. 5742 03:54:39,120 --> 03:54:40,920 I THINK YOU FEEL THAT -- EVEN IN 5743 03:54:40,920 --> 03:54:42,320 THE LAST FEW YEARS, YOU'RE 5744 03:54:42,320 --> 03:54:44,640 SEEING BROADER REPRESENTATION IN 5745 03:54:44,640 --> 03:54:44,960 FILMS. 5746 03:54:44,960 --> 03:54:48,520 THIS CHART SHOWS THAT THERE IS 5747 03:54:48,520 --> 03:54:52,000 BROADER REPRESENTATION BY 5748 03:54:52,000 --> 03:54:53,360 MINORITY ACTORS COMING 5749 03:54:53,360 --> 03:54:53,680 UP-AND-COMING. 5750 03:54:53,680 --> 03:54:57,840 BUT YOU CAN SEE THE CHART ON THE 5751 03:54:57,840 --> 03:54:58,400 RIGHT, GENOME ASSOCIATION 5752 03:54:58,400 --> 03:54:58,960 STUDIES HERE. 5753 03:54:58,960 --> 03:55:01,960 SO YOU CAN SEE THE GLOBAL 5754 03:55:01,960 --> 03:55:04,200 POPULATION IN BILLIONS HERE. 5755 03:55:04,200 --> 03:55:06,560 STILL VASTLY OVERREPRESENTED FOR 5756 03:55:06,560 --> 03:55:08,680 EUROPEAN GENOMIC GWAS STUDIES 5757 03:55:08,680 --> 03:55:11,320 AND THEN LESS FOR OTHER 5758 03:55:11,320 --> 03:55:12,720 INDIVIDUALS -- INDIVIDUALS FROM 5759 03:55:12,720 --> 03:55:13,600 OTHER COUNTRIES. 5760 03:55:13,600 --> 03:55:15,120 SO THIS LACK OF REPRESENTATION 5761 03:55:15,120 --> 03:55:17,560 INCREASES THE RISK OF UNKNOWNS 5762 03:55:17,560 --> 03:55:20,680 FOR THESE UNDER REPRESENTED 5763 03:55:20,680 --> 03:55:21,120 POPULATIONS. 5764 03:55:21,120 --> 03:55:23,280 SO THE APPROACH WE AND MANY 5765 03:55:23,280 --> 03:55:26,400 OTHERS USED TO UNDERSTAND 5766 03:55:26,400 --> 03:55:27,200 GENOME-WIDE ACTIVITY SERVED IN 5767 03:55:27,200 --> 03:55:29,000 SILICO PREDICTION AND TARGETED 5768 03:55:29,000 --> 03:55:29,320 SEQUENCING. 5769 03:55:29,320 --> 03:55:32,040 IT'S A VERY SIMPLE IDEA WHERE 5770 03:55:32,040 --> 03:55:34,360 YOU MIGHT COMPUTATIONALLY 5771 03:55:34,360 --> 03:55:35,520 PREDICT SITES THAT ARE SIMILAR 5772 03:55:35,520 --> 03:55:36,240 TO YOUR TARGET SEQUENCE. 5773 03:55:36,240 --> 03:55:38,920 YOU CAN FIND SOME SPACE BUT THE 5774 03:55:38,920 --> 03:55:41,240 DISADVANTAGE IS THAT IT'S BIASED 5775 03:55:41,240 --> 03:55:42,840 BY YOUR INITIAL ASSUMPTIONS AND 5776 03:55:42,840 --> 03:55:46,320 ALSO THE GENOME REFERENCE AND 5777 03:55:46,320 --> 03:55:46,960 REPRESENTATION IN THE SEQUENCES 5778 03:55:46,960 --> 03:55:50,320 THAT ARE GOING INTO IT. 5779 03:55:50,320 --> 03:55:53,200 SO AS I MENTIONED, WE FOCUSED ON 5780 03:55:53,200 --> 03:55:54,560 DEVELOPING EXPERIMENTALLY 5781 03:55:54,560 --> 03:55:57,600 UNBIASED METHODS TO DEFINE 5782 03:55:57,600 --> 03:55:58,040 OFF-TARGET ACTIVITY. 5783 03:55:58,040 --> 03:56:04,640 INCLUDING METHODS LIKE CHAIN 5784 03:56:04,640 --> 03:56:06,760 SEEK ON THE LEFT AND GUIDE SIKH 5785 03:56:06,760 --> 03:56:07,080 ON THE RIGHT. 5786 03:56:07,080 --> 03:56:10,720 A FOCUS ON GUIDE SEEK ON THE 5787 03:56:10,720 --> 03:56:12,560 RIGHT WHERE WE TAKE EDITED 5788 03:56:12,560 --> 03:56:15,600 CELLS, ADD A SMALL DNA TAG. 5789 03:56:15,600 --> 03:56:19,320 THIS GETS INCORPORATED IN DNA 5790 03:56:19,320 --> 03:56:21,480 THAT ARE CUT BY GENOME EDITORS. 5791 03:56:21,480 --> 03:56:24,680 SO IT'S A LITTLE BIT LIKE AIR 5792 03:56:24,680 --> 03:56:27,000 TAG FOR YOUR KEYS BUT INSTEAD 5793 03:56:27,000 --> 03:56:28,160 FOR DNA. 5794 03:56:28,160 --> 03:56:30,920 SO YOU CAN USE THESE METHODS TO 5795 03:56:30,920 --> 03:56:33,280 DEFINE THE EFFECTS OF JULY 5796 03:56:33,280 --> 03:56:34,120 VENETIC VARIATION. 5797 03:56:34,120 --> 03:56:36,640 THIS IS A STUDY WE HAVE IN 5798 03:56:36,640 --> 03:56:36,920 PROGRESS. 5799 03:56:36,920 --> 03:56:38,880 96 PEOPLE FROM 1000 GENOMES 5800 03:56:38,880 --> 03:56:39,440 PROJECT. 5801 03:56:39,440 --> 03:56:41,600 FOUR DIFFERENT COMPUTATIONS 5802 03:56:41,600 --> 03:56:44,040 INCLUDING EUROPEAN ANCESTRY, 5803 03:56:44,040 --> 03:56:46,960 CHINESE, AFRICAN-AMERICAN AND 5804 03:56:46,960 --> 03:56:47,360 MEXICAN-AMERICAN. 5805 03:56:47,360 --> 03:56:49,920 WE ARE TAKING THESE 5806 03:56:49,920 --> 03:56:50,880 LYMPHOBLASTOID CELL LINES, CELLS 5807 03:56:50,880 --> 03:56:52,920 FROM ALL THESE DIFFERENT PEOPLE, 5808 03:56:52,920 --> 03:56:54,760 EDITING THEM AND ADDING THIS 5809 03:56:54,760 --> 03:56:55,520 SHORT DNA TAG. 5810 03:56:55,520 --> 03:56:59,360 AND WE ARE GOING TO DO SIX 5811 03:56:59,360 --> 03:57:03,760 REPRESENTATIVE TARGETS. 5812 03:57:03,760 --> 03:57:07,400 GUIDE SEQ2 IS PART OF THE GENOME 5813 03:57:07,400 --> 03:57:09,880 EDITING CONSORTIUM TO STREAMLINE 5814 03:57:09,880 --> 03:57:11,400 AND LOOK AT A LARGE NUMBER OF 5815 03:57:11,400 --> 03:57:14,040 SAMPLES AND UNDERSTAND THE 5816 03:57:14,040 --> 03:57:15,920 GLOBAL GENOME-WIDE ACTIVITY. 5817 03:57:15,920 --> 03:57:18,280 WE FOUND IT IS COMPARABLE TO OUR 5818 03:57:18,280 --> 03:57:20,920 EARLIER APPROACHES. 5819 03:57:20,920 --> 03:57:23,040 AND SO HERE WE HAVE TWO AND WE 5820 03:57:23,040 --> 03:57:25,120 ARE STARTING TO SEE THE TARGET 5821 03:57:25,120 --> 03:57:26,360 LANDSCAPE OF INDIVIDUALS FROM 5822 03:57:26,360 --> 03:57:29,720 THE THOUSAND GENOMES PROJECT. 5823 03:57:29,720 --> 03:57:33,520 SO ON THE X AXIS HERE, IF I CAN 5824 03:57:33,520 --> 03:57:34,760 GET THIS POINTER TO WORK. 5825 03:57:34,760 --> 03:57:38,560 ON THE X AXIS WE HAVE THE NUMBER 5826 03:57:38,560 --> 03:57:41,880 OF DIFFERENT OFF-TARGET SITES 5827 03:57:41,880 --> 03:57:42,640 AND ON THE Y AXIS, ARE DIFFERENT 5828 03:57:42,640 --> 03:57:42,960 INDIVIDUALS. 5829 03:57:42,960 --> 03:57:45,040 WHAT CAN YOU SEE BROADLY FROM 5830 03:57:45,040 --> 03:57:48,080 THIS HEAT MAP, VARYING LEVELS OF 5831 03:57:48,080 --> 03:57:48,360 ACTIVITY. 5832 03:57:48,360 --> 03:57:51,560 SPOTS THAT JUMP OUT THAT ARE 5833 03:57:51,560 --> 03:57:53,040 DARKER OR YELLOW SPOTS. 5834 03:57:53,040 --> 03:57:54,960 INCREASED OR DECREASED 5835 03:57:54,960 --> 03:57:57,200 OFF-TARGET ACTIVITY FOR A PERSON 5836 03:57:57,200 --> 03:57:58,520 AT A PARTICULAR POTENTIAL 5837 03:57:58,520 --> 03:57:59,400 OFF-TARGET SITE. 5838 03:57:59,400 --> 03:58:02,360 WHEN WE ANALYZE THIS USING VIDEO 5839 03:58:02,360 --> 03:58:04,600 MODEL, WE CAN FIND THAT THERE 5840 03:58:04,600 --> 03:58:08,680 ARE SITES THAT ARE SIGNIFICANT 5841 03:58:08,680 --> 03:58:08,960 INCREASE. 5842 03:58:08,960 --> 03:58:11,840 OVERALL THIS STUDY SHOWS AROUND 5843 03:58:11,840 --> 03:58:14,400 18% OF OFF TARGETS CONTAIN 5844 03:58:14,400 --> 03:58:17,480 GENETIC VARIATION WITHIN OUR 5845 03:58:17,480 --> 03:58:19,920 POPULATION. 5846 03:58:19,920 --> 03:58:23,800 THAT AROUND -- EFFECT ACTIVITY 5847 03:58:23,800 --> 03:58:26,280 FOR SITES THAT CONTAIN THE 5848 03:58:26,280 --> 03:58:32,360 VARIATION. 5849 03:58:32,360 --> 03:58:33,440 3.4% OF VARIANTS ACTIVITIES. 5850 03:58:33,440 --> 03:58:36,400 WE ALSO TOOK A LOOK AT THIS IN 5851 03:58:36,400 --> 03:58:38,200 EDITED HUMAN T-CELLS. 5852 03:58:38,200 --> 03:58:40,080 HERE ARE SOME EXAMPLES WHERE YOU 5853 03:58:40,080 --> 03:58:42,280 CAN SEE ACTIVITY. 5854 03:58:42,280 --> 03:58:43,480 EDITORS ACROSS TWO DIFFERENT 5855 03:58:43,480 --> 03:58:43,680 AREAS. 5856 03:58:43,680 --> 03:58:45,240 YOU SEE IN GENERAL IT'S MOSTLY 5857 03:58:45,240 --> 03:58:46,880 THE SAME ACROSS ALL THESE 5858 03:58:46,880 --> 03:58:48,640 DIFFERENT SITES BUT THERE IS ONE 5859 03:58:48,640 --> 03:58:51,360 SITE WHERE IT'S QUITE OFF, 5860 03:58:51,360 --> 03:58:51,640 DIAGONAL. 5861 03:58:51,640 --> 03:58:53,800 THAT SITE I'M SHOWING YOU HERE 5862 03:58:53,800 --> 03:58:55,840 ON THE RIGHT IS -- IN THE BOX IS 5863 03:58:55,840 --> 03:58:57,720 A POINT OF POTENTIAL GENETIC 5864 03:58:57,720 --> 03:59:00,360 VARIATION DIFFERENCES. 5865 03:59:00,360 --> 03:59:03,640 THESE ARE TWO POINTS WHERE A 5866 03:59:03,640 --> 03:59:05,600 GENETIC VARIANT OR A SNP AT THE 5867 03:59:05,600 --> 03:59:06,520 TARGET CENTER. 5868 03:59:06,520 --> 03:59:08,760 THAT CAUSES TARGET ACTIVITY TO 5869 03:59:08,760 --> 03:59:14,560 INCREASE BY AROUND 3 DOZEN-FOLD. 5870 03:59:14,560 --> 03:59:17,400 SO IN SUMMARY, I TOLD YOU ABOUT 5871 03:59:17,400 --> 03:59:19,600 SENSITIVE EXPERIMENTALLY 5872 03:59:19,600 --> 03:59:22,040 UNBIASED METHODS FOR GENOME 5873 03:59:22,040 --> 03:59:22,840 ACTIVITY. 5874 03:59:22,840 --> 03:59:25,280 CELLULAR AND BIOCHEMICAL METHODS 5875 03:59:25,280 --> 03:59:27,640 THAT CAN USE TO FIND THE BEST 5876 03:59:27,640 --> 03:59:29,480 EDITORS AND TARGETS FOR 5877 03:59:29,480 --> 03:59:29,920 COMPUTATIONS. 5878 03:59:29,920 --> 03:59:32,680 THAT SMALL GENETIC DIFFERENCES 5879 03:59:32,680 --> 03:59:33,880 CAN SIGNIFICANTLY EFFECT OUR 5880 03:59:33,880 --> 03:59:35,040 TARGET ACTIVITY AND POTENTIALLY 5881 03:59:35,040 --> 03:59:38,320 THE SAFETY OF THESE EDITORS. 5882 03:59:38,320 --> 03:59:40,680 WE OBSERVED IN OUR INITIAL 5883 03:59:40,680 --> 03:59:41,640 STUDY, CHANGES. 5884 03:59:41,640 --> 03:59:44,040 OVERALL IT IS IMPORTANT TO 5885 03:59:44,040 --> 03:59:45,520 CONSIDER THE FEATH OF THIS 5886 03:59:45,520 --> 03:59:46,960 GENETIC VARIATION ESPECIALLY IN 5887 03:59:46,960 --> 03:59:48,800 RESPECTIVE POPULATION THAT MAKE 5888 03:59:48,800 --> 03:59:54,440 SAFE AND EFFECTIVE MEDICINES. 5889 03:59:54,440 --> 03:59:56,600 AND I'D LIKE TO THANK OUR 5890 03:59:56,600 --> 03:59:59,320 FUNDING SOURCES. 5891 03:59:59,320 --> 04:00:01,240 AND THOSE WHO PARTICIPATED IN 5892 04:00:01,240 --> 04:00:03,120 THESE STUDIES, AND MY LAB. 5893 04:00:03,120 --> 04:00:03,800 AND THANK YOU. 5894 04:00:03,800 --> 04:00:14,000 [ APPLAUSE ] 5895 04:00:19,560 --> 04:00:21,040 >> WE HAD A LITTLE BIT OF A 5896 04:00:21,040 --> 04:00:25,080 CHANGE IN OUR FINAL PANEL AS WE 5897 04:00:25,080 --> 04:00:25,360 MENTIONED. 5898 04:00:25,360 --> 04:00:27,440 HE IS JOINING US VIA ZOOM TODAY 5899 04:00:27,440 --> 04:00:29,840 SO WE ARE GOING TO GET HIM 5900 04:00:29,840 --> 04:00:33,600 PULLED UP. 5901 04:00:33,600 --> 04:00:44,160 MARIO, YOU CAN SHARE YOUR SLI 5902 04:00:45,800 --> 04:00:46,680 SLIDES. 5903 04:00:46,680 --> 04:00:50,920 MARIO, CAN YOU TEST YOUR AUDIO? 5904 04:00:50,920 --> 04:00:53,440 >> MARIO ESTEVEZ I'M HERE. 5905 04:00:53,440 --> 04:00:56,560 CAN YOU HEAR ME? 5906 04:00:56,560 --> 04:00:57,640 I DIDN'T CATCH THAT. 5907 04:00:57,640 --> 04:01:07,040 I'M HOPING YOU ALL CAN HEAR ME. 5908 04:01:07,040 --> 04:01:11,160 SO, MARIO,EST SAYS, ORGANIZER 5909 04:01:11,160 --> 04:01:13,320 AND TRAINER AND A RARE DISEASE 5910 04:01:13,320 --> 04:01:16,960 PARENT AND ADVOCATE TO MY SON, 5911 04:01:16,960 --> 04:01:17,240 SEBASTIEN. 5912 04:01:17,240 --> 04:01:18,960 AND SO, VERY EXCITED TO BE HERE. 5913 04:01:18,960 --> 04:01:21,120 I APOLOGIZE THAT I'M NOT THERE 5914 04:01:21,120 --> 04:01:21,360 IN PERSON. 5915 04:01:21,360 --> 04:01:23,080 I HAD SOME MEDICAL ISSUES THIS 5916 04:01:23,080 --> 04:01:23,600 MORNING. 5917 04:01:23,600 --> 04:01:25,240 REALLY THANKFUL TO THE NIH TEAM 5918 04:01:25,240 --> 04:01:27,320 FOR ALLOWING ME TO ADD MY VOICE 5919 04:01:27,320 --> 04:01:29,120 TO THIS SPACE. 5920 04:01:29,120 --> 04:01:30,040 JUST BY THE DIFFICULTIES THAT I 5921 04:01:30,040 --> 04:01:32,520 FACED THIS MORNING. 5922 04:01:32,520 --> 04:01:33,720 I WILL SAY THAT I FIND MYSELF AT 5923 04:01:33,720 --> 04:01:35,040 THE INTERSECTION OF RARE 5924 04:01:35,040 --> 04:01:36,560 DISEASES, RACE AND EQUITY BY WAY 5925 04:01:36,560 --> 04:01:41,360 OF MY SON'S DIAGNOSIS, MY OWN 5926 04:01:41,360 --> 04:01:41,960 RACIALIZED EXPERIENCE IN THIS 5927 04:01:41,960 --> 04:01:42,560 COUNTRY AND THE WORK I DO AS A 5928 04:01:42,560 --> 04:01:44,440 TRAINER AND ORGANIZER FOR THE 5929 04:01:44,440 --> 04:01:45,400 RACIAL EQUITY INSTITUTE. 5930 04:01:45,400 --> 04:01:47,720 WHAT I OFTEN SAY IN THIS SPACE 5931 04:01:47,720 --> 04:01:49,640 IS THAT MAKES SENSE IS THAT IN 5932 04:01:49,640 --> 04:01:52,320 THE SAME WAY THAT I REFUSE TO 5933 04:01:52,320 --> 04:01:52,960 SIT IDLY BY AND WATCH MY SON 5934 04:01:52,960 --> 04:01:55,280 SUCCUMB TO A DEADLY DISEASE, I 5935 04:01:55,280 --> 04:01:56,800 ALSO REFUSE TO STILT'SY BY AND 5936 04:01:56,800 --> 04:01:58,120 WATCH THIS ADOPTIVE NATION OF 5937 04:01:58,120 --> 04:02:01,640 MINE THAT I LOVE SUCCUMB TO THE 5938 04:02:01,640 --> 04:02:02,120 DISEASE OF RACE ITCH. 5939 04:02:02,120 --> 04:02:03,720 AND SO -- RACISM. 5940 04:02:03,720 --> 04:02:08,280 THE RARE DISEASE SPACE IS AN 5941 04:02:08,280 --> 04:02:08,800 ALREADY INEQUITABLE SPACE. 5942 04:02:08,800 --> 04:02:10,520 WE FIND OURSELVES MINORITY OFTEN 5943 04:02:10,520 --> 04:02:11,600 OVERLOOKED AND SOMETIMES EVEN 5944 04:02:11,600 --> 04:02:11,960 EXPLOITED. 5945 04:02:11,960 --> 04:02:14,920 AND SO I HAVE A 3-FOLD OBJECTIVE 5946 04:02:14,920 --> 04:02:16,840 WHERE I'M GOING TO HIGHLIGHT 5947 04:02:16,840 --> 04:02:18,560 SOME OF THE SYSTEMIC FAILURES 5948 04:02:18,560 --> 04:02:19,120 FACED BY THOSE OF US THAT 5949 04:02:19,120 --> 04:02:21,760 ALREADY OCCUPY THIS UNFORTUNATE 5950 04:02:21,760 --> 04:02:24,240 SPACE, WITH A PARTICULAR FOCUS 5951 04:02:24,240 --> 04:02:26,760 ON THE TWO MOST PRESSING ISSUES, 5952 04:02:26,760 --> 04:02:27,320 BIOGINOSIS AND TREATMENT. 5953 04:02:27,320 --> 04:02:29,440 AND THEN BRIEFLY DISCUSS THE 5954 04:02:29,440 --> 04:02:30,640 COMPOUNDING EFFECT THAT RACE 5955 04:02:30,640 --> 04:02:32,680 PLAYS FOR PEOPLE OF COLOR WITHIN 5956 04:02:32,680 --> 04:02:34,400 RARE DISEASES. 5957 04:02:34,400 --> 04:02:35,760 AND THEN FINALLY, LOOK AT THE 5958 04:02:35,760 --> 04:02:36,800 HISTORICAL AND SCIENTIFIC ROOTS 5959 04:02:36,800 --> 04:02:38,680 OF THIS THING AND MAYBE WHAT 5960 04:02:38,680 --> 04:02:41,320 NEEDS TO BE DONE THE VERY FIRST 5961 04:02:41,320 --> 04:02:42,000 THING THAT NEEDS TO BE DONE IF 5962 04:02:42,000 --> 04:02:43,800 WE ARE REALLY TRYING TO ACHIEVE 5963 04:02:43,800 --> 04:02:44,200 EQUITY. 5964 04:02:44,200 --> 04:02:49,000 SO, THIS IS MY SON, SEBASTIEN. 5965 04:02:49,000 --> 04:02:51,440 HE WAS DIAGNOSED WITH HUNTER 5966 04:02:51,440 --> 04:02:54,280 SYNDROME WHEN HE WAS 2.5 YEARS 5967 04:02:54,280 --> 04:02:54,440 OLD. 5968 04:02:54,440 --> 04:02:58,880 ABOUT A WEEK AFTER HIS DIAGNO 5969 04:02:58,880 --> 04:02:59,400 DIAGNOSIS, WE CALLED THE 5970 04:02:59,400 --> 04:03:01,400 NATIONAL NPS SOCIETY LOOKING FOR 5971 04:03:01,400 --> 04:03:02,160 GUIDANCE. 5972 04:03:02,160 --> 04:03:03,520 I REMEMBER THE WOMAN ON THE 5973 04:03:03,520 --> 04:03:06,720 PHONE SOUNDING ALMOST DISTRACTED 5974 04:03:06,720 --> 04:03:07,000 AND EXCITED. 5975 04:03:07,000 --> 04:03:08,000 I THINK SHE MUST HAVE SENTENCED 5976 04:03:08,000 --> 04:03:10,080 MY FRUSTRATION BECAUSE SHE 5977 04:03:10,080 --> 04:03:10,840 PAUSED FOR A SECOND AND 5978 04:03:10,840 --> 04:03:12,680 APOLOGIZED AND SHE SAID, IT'S 5979 04:03:12,680 --> 04:03:14,320 KIND OF CRAZY OVER HERE. 5980 04:03:14,320 --> 04:03:16,040 TODAY WAS THE FIRST DAY THAT A 5981 04:03:16,040 --> 04:03:17,880 PATIENT WITH NPS WAS DOSED WITH 5982 04:03:17,880 --> 04:03:19,640 GENE THERAPY. 5983 04:03:19,640 --> 04:03:21,680 THIS IS A REALLY IMPORTANT DAY 5984 04:03:21,680 --> 04:03:22,240 FOR THE COMMUNITY YOU'RE NOW 5985 04:03:22,240 --> 04:03:25,880 UNFORTUNATELY A PART OF. 5986 04:03:25,880 --> 04:03:27,560 WHAT SHE SAID BARELY REGISTERED 5987 04:03:27,560 --> 04:03:28,720 IN THE MOMENT. 5988 04:03:28,720 --> 04:03:30,040 SHE DID GIVE ME SOME INFORMATION 5989 04:03:30,040 --> 04:03:32,240 ABOUT THE NPS CONFERENCE COMING 5990 04:03:32,240 --> 04:03:33,320 UP A COUPLE OF MONTHS AWAY AND 5991 04:03:33,320 --> 04:03:36,160 SUGGESTED MY FAMILY ATTEND. 5992 04:03:36,160 --> 04:03:39,880 AT THAT CONFERENCE, WE MET 5993 04:03:39,880 --> 04:03:41,360 MELISSA HOGAN, FORMER PRESIDENT 5994 04:03:41,360 --> 04:03:43,760 AND FOUNDER OF -- AN INCREDIBLY 5995 04:03:43,760 --> 04:03:45,000 BRILLIANT WOMAN AND ADVOCATE FOR 5996 04:03:45,000 --> 04:03:47,400 HER SON, CASE. 5997 04:03:47,400 --> 04:03:49,200 AND THERE WE LEARNED OF A GENE 5998 04:03:49,200 --> 04:03:52,040 THERAPY TRIAL THAT HAD 5999 04:03:52,040 --> 04:03:53,720 INCREDIBLE PROMISE. 6000 04:03:53,720 --> 04:03:55,560 HUNTER SYNDROME WAS MONOGENETIC 6001 04:03:55,560 --> 04:03:59,160 AND A MUTATED GENE HAD BEEN 6002 04:03:59,160 --> 04:04:03,040 IDENTIFIED AND A CORRECTED COPY 6003 04:04:03,040 --> 04:04:03,680 OF THAT GENE COULD BE 6004 04:04:03,680 --> 04:04:04,480 MANUFACTURED TO PRODUCE WHAT 6005 04:04:04,480 --> 04:04:07,040 AMOUNTS TO AS CURATIVE MEDICINE. 6006 04:04:07,040 --> 04:04:07,640 AND THAT THE ONLY THING THAT 6007 04:04:07,640 --> 04:04:10,400 STOOD IN OUR WAY WAS MONEY. 6008 04:04:10,400 --> 04:04:13,680 AND SO WE HAD OUR MARCHING 6009 04:04:13,680 --> 04:04:14,400 ORDERS. 6010 04:04:14,400 --> 04:04:15,360 WENT BACK TO SOUTHERN FLORIDA, 6011 04:04:15,360 --> 04:04:17,600 JOINED PROJECT ALIVE AND BECAME 6012 04:04:17,600 --> 04:04:19,440 THE FUNDRAISING CHAIR AND OUR 6013 04:04:19,440 --> 04:04:20,760 FAMILY GOT TO THE WORK OF 6014 04:04:20,760 --> 04:04:21,440 RAISING MONEY. 6015 04:04:21,440 --> 04:04:24,840 WE RAISED OVER A MILLION DOLLARS 6016 04:04:24,840 --> 04:04:26,640 IN SOUTHERN FLORIDA HOSTING 6017 04:04:26,640 --> 04:04:27,440 FUNDRAISERS, PARTNERING WITH 6018 04:04:27,440 --> 04:04:29,920 SCHOOLS AND LOCAL BUSINESSES AND 6019 04:04:29,920 --> 04:04:32,680 PARISHES FROM ACROSS THE GLOBE 6020 04:04:32,680 --> 04:04:33,760 WHO HAD A SINGULAR FOCUS WITH 6021 04:04:33,760 --> 04:04:36,520 RESPECT TO FUNDING THIS CURE. 6022 04:04:36,520 --> 04:04:41,520 AND IN 2017, WE REACHED A MAJOR 6023 04:04:41,520 --> 04:04:42,200 MILESTONE. 6024 04:04:42,200 --> 04:04:44,720 WE RECEIVED FDA APPROVAL FOR OUR 6025 04:04:44,720 --> 04:04:45,080 TRIAL. 6026 04:04:45,080 --> 04:04:49,720 THIS IS AN INCREDIBLE MOMENT FOR 6027 04:04:49,720 --> 04:04:50,120 OUR ORGANIZATION. 6028 04:04:50,120 --> 04:04:51,320 AND YET, HERE WE ARE IN 2023 AND 6029 04:04:51,320 --> 04:04:54,440 NOT A SINGLE CHILD DOSED. 6030 04:04:54,440 --> 04:04:57,000 NOW, I HAVE TO BE VERY CAREFUL 6031 04:04:57,000 --> 04:05:00,680 HOW I CHOOSE MY WORDS HERE 6032 04:05:00,680 --> 04:05:01,640 BECAUSE UNFORTUNATELY THERE 6033 04:05:01,640 --> 04:05:02,760 COULD BE LEGAL RAMIFICATIONS. 6034 04:05:02,760 --> 04:05:04,680 WHAT I WILL SAY IS THIS. 6035 04:05:04,680 --> 04:05:06,480 WE WERE MET WITH SYSTEMIC 6036 04:05:06,480 --> 04:05:06,720 FAILURES. 6037 04:05:06,720 --> 04:05:09,080 WE HAD DONE OUR PART AND ON THE 6038 04:05:09,080 --> 04:05:10,920 PART OF INDUSTRY, THEY DID NOT 6039 04:05:10,920 --> 04:05:12,520 KEEP THEIR PROMISE. 6040 04:05:12,520 --> 04:05:17,160 WE UNFORTUNATELY LOST INVALUABLE 6041 04:05:17,160 --> 04:05:19,560 TIME AND MONEY, UNFORTUNATELY. 6042 04:05:19,560 --> 04:05:21,440 WE WERE FORCED TO BREAK TIES, 6043 04:05:21,440 --> 04:05:23,360 CREATE NEW ONES AND THE TRIAL IS 6044 04:05:23,360 --> 04:05:26,200 STILL ONLY ALIVE BECAUSE OF VERY 6045 04:05:26,200 --> 04:05:27,080 CAREFUL AND CALCULATED 6046 04:05:27,080 --> 04:05:28,760 NEGOTIATION ON OUR PART TO 6047 04:05:28,760 --> 04:05:30,800 ENSURE THAT IT IS STILL A 6048 04:05:30,800 --> 04:05:31,600 REALITY. 6049 04:05:31,600 --> 04:05:35,520 OUR HOPE IS THAT WE WILL DOSE 6050 04:05:35,520 --> 04:05:37,400 THE FIRST PATIENTS WITH WHAT WE 6051 04:05:37,400 --> 04:05:38,040 BELIEVE TO BE CURATIVE MEDICINE 6052 04:05:38,040 --> 04:05:40,640 IN 2024. 6053 04:05:40,640 --> 04:05:43,240 WHEN OUR FAMILY WAS FIRST 6054 04:05:43,240 --> 04:05:47,560 LEARNED OF OUR SON'S DISEASE, 6055 04:05:47,560 --> 04:05:49,280 THIS MANTRA THAT THREATENED OUR 6056 04:05:49,280 --> 04:05:52,120 CHILD AND THE VERY NATURE OF OUR 6057 04:05:52,120 --> 04:05:55,640 ENTIRE FAMILY, I NEVER IMAGINED 6058 04:05:55,640 --> 04:05:58,600 MAYBE NAIVE EVELY, THE 6059 04:05:58,600 --> 04:05:59,200 INCREDIBLE CHALLENGES WE WOULD 6060 04:05:59,200 --> 04:05:59,800 FACE FROM THE VERY SYSTEMS AND 6061 04:05:59,800 --> 04:06:00,400 INSTITUTION THAT IS WE WOULD 6062 04:06:00,400 --> 04:06:02,920 HAVE TO RELY ON IN ORDER TO TRY 6063 04:06:02,920 --> 04:06:04,240 TO SAVE OUR KIDS. 6064 04:06:04,240 --> 04:06:08,160 NOW TO THAT END, I WANT TO TALK 6065 04:06:08,160 --> 04:06:10,720 ABOUT TRIALS THAT ARE CURRENTLY 6066 04:06:10,720 --> 04:06:11,240 IN THE CLINIC THAT SHOW 6067 04:06:11,240 --> 04:06:14,920 INCREDIBLE PROMISE. 6068 04:06:14,920 --> 04:06:16,080 THIS IS TECHNOLOGY THAT ALLOWS 6069 04:06:16,080 --> 04:06:18,440 FOR WEEKLY INTERVENOUS INJECTION 6070 04:06:18,440 --> 04:06:20,240 THAT GETS TRANSFORMATIONAL 6071 04:06:20,240 --> 04:06:20,880 TREATMENTS TO ALL PARTS OF THE 6072 04:06:20,880 --> 04:06:23,920 BODY, INCLUDING THE BRAIN. 6073 04:06:23,920 --> 04:06:24,480 NOW THESE TREATMENTS WILL 6074 04:06:24,480 --> 04:06:25,600 FOREVER CHANGE THE COURSE OF THE 6075 04:06:25,600 --> 04:06:28,040 DISEASE AND REALLY BECOME THE 6076 04:06:28,040 --> 04:06:29,600 NEW STANDARD OF CARE. 6077 04:06:29,600 --> 04:06:31,000 THAT'S INCREDIBLE NEWS. 6078 04:06:31,000 --> 04:06:32,720 IT REALLY IS SUCH GREAT NEWS FOR 6079 04:06:32,720 --> 04:06:33,880 OUR COMMUNITY. 6080 04:06:33,880 --> 04:06:35,960 WE BELIEVE THESE TREATMENTS ARE 6081 04:06:35,960 --> 04:06:38,000 GOING TO PROVIDE A BRIDGE TO 6082 04:06:38,000 --> 04:06:42,160 GENE THERAPY. 6083 04:06:42,160 --> 04:06:43,480 THE BAD NEWS, PUTTING IT MILDLY, 6084 04:06:43,480 --> 04:06:44,840 IS THAT THIS TECHNOLOGY IS 6085 04:06:44,840 --> 04:06:48,360 NEARLY A DECADE OLD. 6086 04:06:48,360 --> 04:06:50,080 AND SO WHAT IN THE HELL IS 6087 04:06:50,080 --> 04:06:52,360 STOPPING THIS TECHNOLOGY FROM 6088 04:06:52,360 --> 04:06:53,480 COMING OUT SOONER? 6089 04:06:53,480 --> 04:06:57,880 UNFORTUNATELY, IT'S SYSTEMIC 6090 04:06:57,880 --> 04:06:59,760 FAILURE AND GREED. 6091 04:06:59,760 --> 04:07:00,560 MAJOR BIOTECH COMPANY BOUGHT THE 6092 04:07:00,560 --> 04:07:02,080 RIGHTS TO THAT TECHNOLOGY WITH 6093 04:07:02,080 --> 04:07:03,560 THE PROMISES OF PUSHING IT TO 6094 04:07:03,560 --> 04:07:04,200 THE CLINIC. 6095 04:07:04,200 --> 04:07:05,840 THEY DID THE EXACT OPPOSITE. 6096 04:07:05,840 --> 04:07:08,440 THEY PURCHASED THOSE RIGHTS, 6097 04:07:08,440 --> 04:07:09,040 SHELVED THAT TREATMENT BECAUSE 6098 04:07:09,040 --> 04:07:11,680 THEY HAD A COMPETING TECHNOLOGY. 6099 04:07:11,680 --> 04:07:15,680 AND IN THAT DECADE OF STOLEN 6100 04:07:15,680 --> 04:07:17,040 TIME, THE DISEASE CONTINUED TO 6101 04:07:17,040 --> 04:07:19,480 PROGRESS TO THE BODIES OF OUR 6102 04:07:19,480 --> 04:07:19,720 CHILDREN. 6103 04:07:19,720 --> 04:07:23,520 AND IN KIDS WHO DID NOT NEED TO 6104 04:07:23,520 --> 04:07:24,480 DIE, DID. 6105 04:07:24,480 --> 04:07:25,840 THAT, FOLKS, IS THE MOST IN 6106 04:07:25,840 --> 04:07:28,280 HUMANE EXAMPLE I CAN GIVE OF 6107 04:07:28,280 --> 04:07:29,400 INSTITUTIONAL AND SYSTEMIC 6108 04:07:29,400 --> 04:07:30,480 FAILURES ON THE PARTS OF THE 6109 04:07:30,480 --> 04:07:33,360 VERY INSTITUTIONS WHO STATED 6110 04:07:33,360 --> 04:07:33,920 OBJECTIVE IT WAS TO SAVE 6111 04:07:33,920 --> 04:07:35,360 CHILDREN SUFFERING FROM RARE 6112 04:07:35,360 --> 04:07:42,080 TERMINAL DISEASES. 6113 04:07:42,080 --> 04:07:42,640 BRIEFLY JUST TALK ABOUT OUR 6114 04:07:42,640 --> 04:07:43,280 DIAGNOSTIC ODYSSEY WITH RESPECT 6115 04:07:43,280 --> 04:07:45,720 TO OUR SON. 6116 04:07:45,720 --> 04:07:49,240 AT 9 MONTHS OLD HE WAS DIAGNOSED 6117 04:07:49,240 --> 04:07:51,040 WITH HYDROSELFIS. 6118 04:07:51,040 --> 04:07:52,280 BECAUSE HUNTER SYNDROME IS NOT 6119 04:07:52,280 --> 04:07:54,080 SCREENED FOR AT BIRTH, WE DIDN'T 6120 04:07:54,080 --> 04:07:56,080 KNOW WHAT WE WERE DEALING WITH. 6121 04:07:56,080 --> 04:07:57,880 AND WE WERE MAKING DECISIONS 6122 04:07:57,880 --> 04:07:59,800 TREATING WHAT WE THOUGHT WAS THE 6123 04:07:59,800 --> 04:08:02,120 ROOT CAUSE OF THIS ISSUE HE HAD 6124 04:08:02,120 --> 04:08:07,200 WITH RESPECT TO HYDROSELFIS, 6125 04:08:07,200 --> 04:08:09,080 EXCESS CEREBRAL SPINAL FLUID IN 6126 04:08:09,080 --> 04:08:09,440 THE BRAIN. 6127 04:08:09,440 --> 04:08:19,920 WE SOUGHT OUT A WORLD RENOWNED 6128 04:08:19,920 --> 04:08:20,240 NEOSURGEON. 6129 04:08:20,240 --> 04:08:21,200 -- WE WERE TRYING TO AVOID 6130 04:08:21,200 --> 04:08:24,400 MULTIPLE BRAIN SURGERIES. 6131 04:08:24,400 --> 04:08:26,320 WE SOUGHT OUT THIS NEUROSURGEON 6132 04:08:26,320 --> 04:08:27,880 AT THE BOSTON CHILDREN'S 6133 04:08:27,880 --> 04:08:28,760 HOSPITAL TO HAVE WHAT WE SAID 6134 04:08:28,760 --> 04:08:29,280 WOULD BE A SIMPLE SURGERY. 6135 04:08:29,280 --> 04:08:30,160 WE WOULD BE THERE FOR A WEEK AND 6136 04:08:30,160 --> 04:08:30,520 GO HOME. 6137 04:08:30,520 --> 04:08:33,000 WHAT ENDED UP HAPPENING IS WE 6138 04:08:33,000 --> 04:08:35,120 WERE THERE FOR ALMOST A MONTH. 6139 04:08:35,120 --> 04:08:37,960 SEBASTIEN HAD TO UNDERGO THREE 6140 04:08:37,960 --> 04:08:42,760 BRAIN SURGERIES AND ENDED UP 6141 04:08:42,760 --> 04:08:44,520 WITH A SHUNT NONETHELESS. 6142 04:08:44,520 --> 04:08:46,240 NOW, AGAIN WE THOUGHT WE WERE 6143 04:08:46,240 --> 04:08:50,080 MAKING THE BEST DECISIONS FOR 6144 04:08:50,080 --> 04:08:53,160 OUR SON BUT WE LACKED VITAL 6145 04:08:53,160 --> 04:08:54,320 INFORMATION WHICH WOULD HAVE 6146 04:08:54,320 --> 04:08:55,240 ALLOWED US TO MAKE BETTER 6147 04:08:55,240 --> 04:08:58,600 DECISIONS WITH RESPECT TO HIS 6148 04:08:58,600 --> 04:08:58,880 HEALTH. 6149 04:08:58,880 --> 04:09:00,400 NOW THE HUNTER SYNDROME 6150 04:09:00,400 --> 04:09:03,680 COMMUNITY REALLY DOES OCCUPY 6151 04:09:03,680 --> 04:09:04,760 PRIVILEGED SPACE. 6152 04:09:04,760 --> 04:09:05,360 WE ARE IN THE MINORITY OF RARE 6153 04:09:05,360 --> 04:09:07,400 DISEASES THAT ACTUALLY HAS AN 6154 04:09:07,400 --> 04:09:12,440 FDA APPROVED TREATMENT AND HAS 6155 04:09:12,440 --> 04:09:12,760 SINCE 2006. 6156 04:09:12,760 --> 04:09:14,880 AND YET, THAT TREATMENT FINDS 6157 04:09:14,880 --> 04:09:16,880 ITSELF IN SEARCH OF PATIENTS. 6158 04:09:16,880 --> 04:09:18,000 IT'S NOT A TYPO. 6159 04:09:18,000 --> 04:09:19,280 YOU THINK IT'S PATIENTS IN 6160 04:09:19,280 --> 04:09:20,640 SEARCH OF TREATMENT? 6161 04:09:20,640 --> 04:09:23,320 IT'S TREATMENTS IN SEARCH OF 6162 04:09:23,320 --> 04:09:23,600 PATIENTS. 6163 04:09:23,600 --> 04:09:24,600 HUNTER SYNDROME WAS JUST LAST 6164 04:09:24,600 --> 04:09:26,640 YEAR ADDED TO THE REST. 6165 04:09:26,640 --> 04:09:29,280 THE RECOMMENDED UNIFORM 6166 04:09:29,280 --> 04:09:31,760 SCREENING PANEL FOR RARE 6167 04:09:31,760 --> 04:09:36,360 DISEASES. 6168 04:09:36,360 --> 04:09:37,240 AND THAT VICTORY CAME BY WAY OF 6169 04:09:37,240 --> 04:09:37,520 ORGANIZING. 6170 04:09:37,520 --> 04:09:41,360 OTHER NONPROFITS WITHIN OUR 6171 04:09:41,360 --> 04:09:41,920 SPACE. 6172 04:09:41,920 --> 04:09:42,520 THE DOCTORS AND CLINICIANS WHO 6173 04:09:42,520 --> 04:09:44,280 WORKED VERY HARD TO HAVE US 6174 04:09:44,280 --> 04:09:45,760 ADDED TO THE RUSP. 6175 04:09:45,760 --> 04:09:47,520 NOW THE KEYWORD WE ARE LOOKING 6176 04:09:47,520 --> 04:09:49,840 AT IS THE WORD, RECOMMENDED. 6177 04:09:49,840 --> 04:09:52,080 BECAUSE NOW WE FACE A 6178 04:09:52,080 --> 04:09:53,440 STATE-BY-STATE FIGHT TO HAVE 6179 04:09:53,440 --> 04:09:54,720 HUNTER SYNDROME BE ONE OF THE 6180 04:09:54,720 --> 04:09:56,520 CONDITIONS SCREENED FOR AT 6181 04:09:56,520 --> 04:09:56,920 BIRTH. 6182 04:09:56,920 --> 04:09:58,200 SO THAT PARENTS CAN REALLY START 6183 04:09:58,200 --> 04:10:00,880 FIGHTING THIS DISEASE BEFORE IT 6184 04:10:00,880 --> 04:10:02,240 DOES IRREPARABLE DAMAGE. 6185 04:10:02,240 --> 04:10:04,440 I WANT TO PUNCH THIS POINT. 6186 04:10:04,440 --> 04:10:07,120 AND THAT IS THAT EVEN IF YOU ARE 6187 04:10:07,120 --> 04:10:08,680 FORTUNATE TO HAVE TREATMENT, 6188 04:10:08,680 --> 04:10:12,680 YOU'RE LIKELY TO FACE SERIOUS 6189 04:10:12,680 --> 04:10:14,560 DELAYS FOR THAT TREATMENT 6190 04:10:14,560 --> 04:10:18,000 BECAUSE YOU'LL NOT BE PRIVY TO 6191 04:10:18,000 --> 04:10:18,640 THE VITAL INFORMATION WHEN YOUR 6192 04:10:18,640 --> 04:10:18,960 CHILD IS BORN. 6193 04:10:18,960 --> 04:10:19,760 I CAN'T THINK OF A BETTER 6194 04:10:19,760 --> 04:10:24,880 EXAMPLE OF SYSTEMIC FAILURE. 6195 04:10:24,880 --> 04:10:27,040 I UNDERSTAND THE DIFFICULTY 6196 04:10:27,040 --> 04:10:28,800 ASSOCIATED WITH ADDING DIFFERENT 6197 04:10:28,800 --> 04:10:30,280 DISEASES TO NEWBORN SCREENING 6198 04:10:30,280 --> 04:10:32,280 AND THE COST, LOGISTICS OF IT. 6199 04:10:32,280 --> 04:10:36,520 BUT IF THERE IS TREATMENT FOR 6200 04:10:36,520 --> 04:10:37,640 DISEASES, THEY SHOULD CERTAINLY 6201 04:10:37,640 --> 04:10:42,080 BE SCREENED FOR IT AT BIRTH. 6202 04:10:42,080 --> 04:10:45,640 THE NEWBORN SCREENING SAVES 6203 04:10:45,640 --> 04:10:46,360 LIVES REAUTHORIZATION ACT. 6204 04:10:46,360 --> 04:10:47,880 IS OBVIOUSLY KEY. 6205 04:10:47,880 --> 04:10:51,720 WE TALKED ABOUT THE DISPARITIES 6206 04:10:51,720 --> 04:10:55,480 WITH RESPECT TO FOLKS OF COLOR 6207 04:10:55,480 --> 04:10:57,680 AND THE LENGTH OF THEIR 6208 04:10:57,680 --> 04:10:58,640 DIAGNOSTIC ODYSSEY VERSUS THAT 6209 04:10:58,640 --> 04:11:01,320 OF PATIENTS OF EUROPEAN DECENT. 6210 04:11:01,320 --> 04:11:04,960 THE NEWBORN SCREENING SAVES 6211 04:11:04,960 --> 04:11:05,600 LIVES REAUTHORIZATION ACT WOULD 6212 04:11:05,600 --> 04:11:08,520 OBVIOUSLY HELP WITH THAT. 6213 04:11:08,520 --> 04:11:10,200 VERY BRIEFLY I WANT TO TALK 6214 04:11:10,200 --> 04:11:12,640 ABOUT THE COMPOUNDING AFFECT OF 6215 04:11:12,640 --> 04:11:12,840 RACE. 6216 04:11:12,840 --> 04:11:13,680 SOME OF THE THINGS I ALREADY 6217 04:11:13,680 --> 04:11:14,960 MENTIONED HERE. 6218 04:11:14,960 --> 04:11:16,680 EVEN THOUGH PEOPLE OF COLOR MAKE 6219 04:11:16,680 --> 04:11:18,480 UP 40% OF THE POPULATION, THEY 6220 04:11:18,480 --> 04:11:20,920 ONLY MAKE UP 16% OF RESEARCH 6221 04:11:20,920 --> 04:11:22,440 STUDY PARTICIPANTS. 6222 04:11:22,440 --> 04:11:25,160 AND ON AVERAGE, THAT 5-7 YEARS 6223 04:11:25,160 --> 04:11:27,200 DIAGNOSIS FOR RARE DISEASES IS 6224 04:11:27,200 --> 04:11:28,720 LONGING FOR COMMUNITIES OF COLOR 6225 04:11:28,720 --> 04:11:30,360 BECAUSE THE DISPARITIES THEY SEE 6226 04:11:30,360 --> 04:11:34,840 WHEN CONFRONTING THE HEALTH CARE 6227 04:11:34,840 --> 04:11:35,200 SYSTEM OVERALL. 6228 04:11:35,200 --> 04:11:37,280 THE QUESTION FOR US IS, HOW DID 6229 04:11:37,280 --> 04:11:38,080 WE GET HERE? 6230 04:11:38,080 --> 04:11:39,320 ARE THE EXPERIENCES OF PEOPLE 6231 04:11:39,320 --> 04:11:41,040 WITH COLOR IN THE RARE DISEASE 6232 04:11:41,040 --> 04:11:43,080 SPACE ANY DIFFERENT WHEN 6233 04:11:43,080 --> 04:11:44,080 CONFRONTED WITH OTHER FORMAL 6234 04:11:44,080 --> 04:11:46,120 SYSTEMS AND INSTITUTIONS IN THIS 6235 04:11:46,120 --> 04:11:46,400 COUNTRY? 6236 04:11:46,400 --> 04:11:47,800 AND DR. CUNNINGHAM MENTIONED 6237 04:11:47,800 --> 04:11:48,000 THIS. 6238 04:11:48,000 --> 04:11:50,280 THE REALITY IS THAT IT'S NOT. 6239 04:11:50,280 --> 04:11:52,040 WHETHER WE ARE TALKING ABOUT THE 6240 04:11:52,040 --> 04:11:55,960 EDUCATION SYSTEM, THE CRIMINAL 6241 04:11:55,960 --> 04:11:58,080 INJUSTICE SYSTEM, OR THE BANKING 6242 04:11:58,080 --> 04:11:58,960 AND LENDING SYSTEM. 6243 04:11:58,960 --> 04:12:01,240 ALL THESE DIFFERENT SYSTEMS, WE 6244 04:12:01,240 --> 04:12:02,600 JUST SEE THESE INEQUITIES. 6245 04:12:02,600 --> 04:12:04,440 I THINK IT IS IMPORTANT FOR US 6246 04:12:04,440 --> 04:12:07,680 TO ACKNOWLEDGE THE INCREDIBLY 6247 04:12:07,680 --> 04:12:08,680 SIGNIFICANT ROLE THAT THREE VERY 6248 04:12:08,680 --> 04:12:10,200 POWERFUL ENTITIES PLAYED IN 6249 04:12:10,200 --> 04:12:12,360 REALLY CEMENTING THE RACIAL 6250 04:12:12,360 --> 04:12:13,720 DIVIDE THAT FINDS ITSELF SO 6251 04:12:13,720 --> 04:12:15,240 DEEPLY ROOTED IN THE UNITED 6252 04:12:15,240 --> 04:12:15,880 STATES THAT IT IS TRULY A PART 6253 04:12:15,880 --> 04:12:22,480 OF THE GENETIC MAKE UP OF THIS 6254 04:12:22,480 --> 04:12:24,680 COUNTRY. 6255 04:12:24,680 --> 04:12:25,240 NOT BEING GOVERNMENT, 6256 04:12:25,240 --> 04:12:26,000 RELIGION -- THAT BEING 6257 04:12:26,000 --> 04:12:26,880 GOVERNMENT, RELIGION AND 6258 04:12:26,880 --> 04:12:28,560 SCIENCE. 6259 04:12:28,560 --> 04:12:31,600 NOW, WITH RESPECT TO SCIENTIFIC 6260 04:12:31,600 --> 04:12:33,040 RACISM, EUGENICS THEN AND NOW -- 6261 04:12:33,040 --> 04:12:35,640 I'M NOT GOING TO SHARE SOME OF 6262 04:12:35,640 --> 04:12:36,480 THE DATE A WANTED TO SHARE FOR 6263 04:12:36,480 --> 04:12:38,640 THE PURPOSE SYSTEM OF TIME. 6264 04:12:38,640 --> 04:12:39,280 THE AMERICAN SOCIETY OF HUMAN 6265 04:12:39,280 --> 04:12:42,440 GEET INICS, LARGEST 6266 04:12:42,440 --> 04:12:44,360 CONGLOMERATION OF GENETICISTS 6267 04:12:44,360 --> 04:12:45,000 LAST MONTH APOLOGIZED FOR THE 6268 04:12:45,000 --> 04:12:46,240 PARTICIPATION OF SOME OF ITS 6269 04:12:46,240 --> 04:12:50,200 EARLY LEADERS IN THE EUGENICS 6270 04:12:50,200 --> 04:12:50,440 MOVEMENT. 6271 04:12:50,440 --> 04:12:51,160 AS WELL AS THE GROUP'S FAILURE 6272 04:12:51,160 --> 04:12:53,440 TO ACKNOWLEDGE AND OPPOSE OTHER 6273 04:12:53,440 --> 04:12:54,320 PAST HARMS AND INJUSTICES IN THE 6274 04:12:54,320 --> 04:12:56,280 FIELD OF GENETICS. 6275 04:12:56,280 --> 04:12:58,280 I'LL JUST SAY REALLY BRIEFLY SO 6276 04:12:58,280 --> 04:13:01,720 YOU GET A SENSE OF HOW PROFOUND 6277 04:13:01,720 --> 04:13:04,680 THE IMPACT OF SCIENTIFIC RACISM 6278 04:13:04,680 --> 04:13:06,160 HERE IN THE UNITED STATES WAS 6279 04:13:06,160 --> 04:13:07,160 THE WORLD OVER. 6280 04:13:07,160 --> 04:13:10,000 MADISON GRANT WAS AN AMERICAN 6281 04:13:10,000 --> 04:13:12,680 UJEN ASSIST, LAWYER, VERY 6282 04:13:12,680 --> 04:13:13,160 PROMINENT INDIVIDUAL. 6283 04:13:13,160 --> 04:13:14,600 RAN INTO VERY ELITE CIRCLES. 6284 04:13:14,600 --> 04:13:16,680 HUNG OUT WITH FORMER PRESIDENTS 6285 04:13:16,680 --> 04:13:18,600 DURING HIS TIME. 6286 04:13:18,600 --> 04:13:20,760 HE WROTE A BOOK, THE PASSING OF 6287 04:13:20,760 --> 04:13:22,240 THE GREAT RACE. 6288 04:13:22,240 --> 04:13:24,000 HE RECEIVED A NOTE, THIS BOOK 6289 04:13:24,000 --> 04:13:26,840 WAS TRANSLATED INTO DIFFICULT 6290 04:13:26,840 --> 04:13:27,080 LANGUAGES. 6291 04:13:27,080 --> 04:13:29,000 RECEIVED A NOTE FROM SOMEONE, 6292 04:13:29,000 --> 04:13:29,920 PROMINENT WORLD FIGURE WHO 6293 04:13:29,920 --> 04:13:31,960 BASICALLY SAID THIS BOOK IS MY 6294 04:13:31,960 --> 04:13:32,160 BIBLE. 6295 04:13:32,160 --> 04:13:32,960 I LOVE THIS BOOK. 6296 04:13:32,960 --> 04:13:35,680 IT IS MY BIBLE. 6297 04:13:35,680 --> 04:13:38,600 AND THAT PERSON WAS ADOLF HIT 6298 04:13:38,600 --> 04:13:38,840 HITLER. 6299 04:13:38,840 --> 04:13:41,520 SO WE GET A BASIC UNDERSTANDING 6300 04:13:41,520 --> 04:13:46,600 OF REALLY HOW AGAIN, THE VERY 6301 04:13:46,600 --> 04:13:48,400 SIGNIFICANT ROLE THAT SCIENCE 6302 04:13:48,400 --> 04:13:49,520 HAS PLAYED NOT JUST IN THE 6303 04:13:49,520 --> 04:13:50,920 UNITED STATES BUT THE WORLD 6304 04:13:50,920 --> 04:13:51,320 OVER. 6305 04:13:51,320 --> 04:13:53,080 AND SO THE ACKNOWLEDGMENT OF THE 6306 04:13:53,080 --> 04:13:56,760 AMERICAN SOCIETY OF HUMAN 6307 04:13:56,760 --> 04:13:58,000 GENETICS, OF THE ROLE OF THE 6308 04:13:58,000 --> 04:13:59,960 SCIENTIFIC COMMUNITY, THAT IT 6309 04:13:59,960 --> 04:14:02,280 HAS PLAYED REALLY SHOULD BE 6310 04:14:02,280 --> 04:14:02,640 APPLAUDED. 6311 04:14:02,640 --> 04:14:04,040 THE QUESTION THAT REMAINS IS 6312 04:14:04,040 --> 04:14:06,400 WHAT NEEDS TO BE DONE TO 6313 04:14:06,400 --> 04:14:07,320 READDRESS SOME OF THOSE 6314 04:14:07,320 --> 04:14:07,600 INJUSTICES? 6315 04:14:07,600 --> 04:14:09,080 THEN LASTLY, I WANT TO TALK 6316 04:14:09,080 --> 04:14:10,080 ABOUT THE ELEPHANT IN THE ROOM. 6317 04:14:10,080 --> 04:14:14,400 WHEN WE GET INTO THESE SPACES, 6318 04:14:14,400 --> 04:14:17,800 AND WE'RE HAVING CONVERSATIONS 6319 04:14:17,800 --> 04:14:19,960 ABOUT EQUITY AND DIVERSITY AND 6320 04:14:19,960 --> 04:14:20,200 INCLUSION. 6321 04:14:20,200 --> 04:14:21,320 I THINK FOLKS ARE VERY 6322 04:14:21,320 --> 04:14:23,720 COMFORTABLE TALKING ABOUT 6323 04:14:23,720 --> 04:14:25,200 IMPLICIT BIAS AND I THINK WE USE 6324 04:14:25,200 --> 04:14:27,080 THIS -- WHAT I WOULD ARGUE IS 6325 04:14:27,080 --> 04:14:30,080 MAYBE SOMETIMES SANITIZED 6326 04:14:30,080 --> 04:14:32,320 LANGUAGE TO REALLY KIND OF MAKE 6327 04:14:32,320 --> 04:14:34,320 US FEEL COMFORTABLE. 6328 04:14:34,320 --> 04:14:36,320 BUT, IF WE ARE TO GET AT THIS 6329 04:14:36,320 --> 04:14:37,880 THING, AT THE ROOT OF THIS 6330 04:14:37,880 --> 04:14:39,920 THING, WE NEED TO TALK ABOUT 6331 04:14:39,920 --> 04:14:42,280 WHITE SUPREMACY AND RACISM. 6332 04:14:42,280 --> 04:14:44,440 NOW, IF THOSE TWO WORDS MADE YOU 6333 04:14:44,440 --> 04:14:46,880 FEEL UNCOMFORTABLE, I FEEL YOU. 6334 04:14:46,880 --> 04:14:47,440 YOU'RE MY PEOPLE. 6335 04:14:47,440 --> 04:14:50,920 I FELT UNCOMFORTABLE JUST SAYING 6336 04:14:50,920 --> 04:14:51,120 THEM. 6337 04:14:51,120 --> 04:14:53,920 BUT I THINK IF WE ARE TRYING TO 6338 04:14:53,920 --> 04:14:57,400 GET AT EQUITY, THEN WE HAVE TO 6339 04:14:57,400 --> 04:14:59,560 DEAL WITH THE ELEPHANT IN THE 6340 04:14:59,560 --> 04:14:59,760 ROOM. 6341 04:14:59,760 --> 04:15:02,280 WHEN WE HAVE THESE DISCUSSIONS 6342 04:15:02,280 --> 04:15:03,880 IN THE TRAIN I THINK SO WE 6343 04:15:03,880 --> 04:15:06,720 CONDUCT AND WE HAVE FOLKS, WHAT 6344 04:15:06,720 --> 04:15:07,400 ARE THE THINGS THAT COME TO MIND 6345 04:15:07,400 --> 04:15:08,920 WHEN YOU HEAR THE WORD RACISM OR 6346 04:15:08,920 --> 04:15:09,880 WHITE SUPREMACY? 6347 04:15:09,880 --> 04:15:17,920 THEY WILL TELL US, HATRED OR BIG 6348 04:15:17,920 --> 04:15:18,520 TREE, MEAN SPIRITEDNESS, MAYBE 6349 04:15:18,520 --> 04:15:19,120 THE CLAN, NEONAT SEES, TIKI 6350 04:15:19,120 --> 04:15:20,560 TORCH CARRYING INDIVIDUALS, 6351 04:15:20,560 --> 04:15:20,800 ET CETERA. 6352 04:15:20,800 --> 04:15:22,040 AND THE SOLUTION TO THE 6353 04:15:22,040 --> 04:15:22,760 INEQUITIES WE SEE IS POSSIBLY 6354 04:15:22,760 --> 04:15:26,080 GETTING RID OF THESE RACIST 6355 04:15:26,080 --> 04:15:26,400 INDIVIDUALS. 6356 04:15:26,400 --> 04:15:29,520 BUT THEN HISTORICAL EVIDENCE 6357 04:15:29,520 --> 04:15:30,000 WOULD SUGGEST OTHERWISE. 6358 04:15:30,000 --> 04:15:31,480 THE UNDERLYING MISCONCEPTION IS 6359 04:15:31,480 --> 04:15:33,560 WE HAVE NOT SEEN THE GAINS WE 6360 04:15:33,560 --> 04:15:36,800 ANTICIPATED AFTER THE CIVIL 6361 04:15:36,800 --> 04:15:37,440 RIGHTS MOVEMENT BECAUSE OF THESE 6362 04:15:37,440 --> 04:15:38,680 BAD APPLES THAT ANCHOR CERTAIN 6363 04:15:38,680 --> 04:15:40,160 SYSTEMS AND INSTITUTIONS HOLDING 6364 04:15:40,160 --> 04:15:42,720 BACK THE PROGRESS THAT WE WOULD 6365 04:15:42,720 --> 04:15:43,880 HAVE OTHERWISE SEEN. 6366 04:15:43,880 --> 04:15:45,040 THE REALITY IS THAT THE 6367 04:15:45,040 --> 04:15:47,440 COLLECTIVE CONSCIOUSNESS OF THE 6368 04:15:47,440 --> 04:15:50,640 NATION NEEDS TO SHIFT FROM THE 6369 04:15:50,640 --> 04:15:51,680 UGLY INDIVIDUAL MANIFESTATIONS 6370 04:15:51,680 --> 04:15:55,280 OF THIS THING TO A SYSTEMIC 6371 04:15:55,280 --> 04:15:56,320 ANALYSIS. 6372 04:15:56,320 --> 04:15:58,240 I JUST WANT -- HEAR ME ON THIS. 6373 04:15:58,240 --> 04:16:00,520 THE MAJOR HURDLE WE FACE IS THAT 6374 04:16:00,520 --> 04:16:04,160 WHEN IT COMES TO THE DISEASE OF 6375 04:16:04,160 --> 04:16:06,600 RACISM, WE HAVE YET TO RENDER A 6376 04:16:06,600 --> 04:16:09,680 PROPER DIAGNOSIS. 6377 04:16:09,680 --> 04:16:12,480 AND THAT IS THAT SYSTEMS OF 6378 04:16:12,480 --> 04:16:14,080 INEQUITY ORBIT ON THEIR OWN 6379 04:16:14,080 --> 04:16:14,280 AXIS. 6380 04:16:14,280 --> 04:16:15,680 AND THE IF WE ARE TRULY TO GET 6381 04:16:15,680 --> 04:16:20,720 AT EQUITY, WE NEED SYSTEMS, 6382 04:16:20,720 --> 04:16:21,120 CHANGE AGENTSMENT. 6383 04:16:21,120 --> 04:16:23,000 WE CANNOT RELY ON OUTSIDE 6384 04:16:23,000 --> 04:16:23,280 AGITATORS. 6385 04:16:23,280 --> 04:16:24,840 WE NEED FOLKS WITHIN THE SYSTEMS 6386 04:16:24,840 --> 04:16:28,080 AND INSTITUTIONS THAT HOLD 6387 04:16:28,080 --> 04:16:30,240 INCREDIBLE POWER TO START TO 6388 04:16:30,240 --> 04:16:31,520 COLLECTIVIZE THAT POWER AND TRY 6389 04:16:31,520 --> 04:16:33,840 TO CHANGE THOSE SYSTEMS FROM 6390 04:16:33,840 --> 04:16:34,960 WITHIN. 6391 04:16:34,960 --> 04:16:37,600 NOW LIFTERN, SOME MIGHT AND, WHY 6392 04:16:37,600 --> 04:16:40,240 CAN'T WE JUST LOOK INTO THE 6393 04:16:40,240 --> 04:16:45,240 FUTTOWER HELP PATIENTS WITH A 6394 04:16:45,240 --> 04:16:48,680 MORE -- TO HAVE ACHIEVE EQUITY? 6395 04:16:48,680 --> 04:16:50,080 I BELIEVE YOU CAN'T CHANGE THE 6396 04:16:50,080 --> 04:16:53,160 SYSTEM IF YOU CAN'T SEE HOW IT 6397 04:16:53,160 --> 04:16:53,640 OPERATES. 6398 04:16:53,640 --> 04:16:54,680 AND YOU CAN'T SEE HOW IT 6399 04:16:54,680 --> 04:16:57,280 OPERATES UNLESS YOU LOOK AT ITS 6400 04:16:57,280 --> 04:16:57,920 HISTORY. 6401 04:16:57,920 --> 04:16:58,960 HOW IT WAS FORMED AND SHAPED 6402 04:16:58,960 --> 04:17:00,680 OVER TIME BECAUSE SYSTEMS 6403 04:17:00,680 --> 04:17:02,320 OPERATE UNDER THE SURFACE. 6404 04:17:02,320 --> 04:17:05,200 THROUGH INVISIBLE CODES AND 6405 04:17:05,200 --> 04:17:09,120 NORMS THAT OFTEN GO UNSEEN OR 6406 04:17:09,120 --> 04:17:10,720 TAKEN FOR GRANTED. 6407 04:17:10,720 --> 04:17:13,640 THAT INDEED THE WAY FORWARD IS 6408 04:17:13,640 --> 04:17:14,440 BACK THROUGH. 6409 04:17:14,440 --> 04:17:16,480 THEREFORE WE HAVE TO LOOK AT THE 6410 04:17:16,480 --> 04:17:19,520 HISTORICAL AND CULTURE ROOTS OF 6411 04:17:19,520 --> 04:17:20,160 THIS THINGS IF WE ARE TO BRING 6412 04:17:20,160 --> 04:17:22,080 ABOUT A MORE EQUITABLE SOCIETY, 6413 04:17:22,080 --> 04:17:22,800 WHETHER IN THE RARE DISEASE 6414 04:17:22,800 --> 04:17:26,320 SPACE, IN GENOMICS OR IN ANY OF 6415 04:17:26,320 --> 04:17:27,120 THE OTHER FORMAL SPACES THAT 6416 04:17:27,120 --> 04:17:31,240 FOLKS COME IN CONTACT WITH ON A 6417 04:17:31,240 --> 04:17:32,320 REGULAR BASIS. 6418 04:17:32,320 --> 04:17:34,360 THE SYSTEMIC AND STRUCTURAL 6419 04:17:34,360 --> 04:17:36,160 FAILURES I HIGHLIGHTED ARE NOT 6420 04:17:36,160 --> 04:17:37,160 UNIQUE TO RARE DISEASES OR 6421 04:17:37,160 --> 04:17:38,680 PEOPLE OF COLOR. 6422 04:17:38,680 --> 04:17:42,800 BUT ARE SIMPLY INDICT ITCH OF 6423 04:17:42,800 --> 04:17:43,480 THE REALTIES PHASE BY 6424 04:17:43,480 --> 04:17:45,280 MARGINALIZED GROUPS WHO CONFRONT 6425 04:17:45,280 --> 04:17:46,200 SYSTEMS THAT WERE NOT 6426 04:17:46,200 --> 04:17:49,000 CONSTRUCTED WITH THEM IN MIND. 6427 04:17:49,000 --> 04:17:51,840 AND THE SAME WAY THAT SYSTEMS 6428 04:17:51,840 --> 04:17:52,480 AND INSTITUTIONS NEED TO CHANGE 6429 04:17:52,480 --> 04:17:53,520 THEIR PRACTICINGS TO BRING ABOUT 6430 04:17:53,520 --> 04:17:55,680 EQUITY AND CARE TO RARE DISEASE 6431 04:17:55,680 --> 04:17:58,280 PATIENTS, ALL OF OUR SYSTEMS AND 6432 04:17:58,280 --> 04:17:59,560 INSTITUTIONS NEED CHANGING IF WE 6433 04:17:59,560 --> 04:18:03,000 ARE TO ROOT OUT THE SEISMIC 6434 04:18:03,000 --> 04:18:04,120 NATURE OF THE INEQUITIES THAT 6435 04:18:04,120 --> 04:18:06,240 ARE HURTING US ALL. 6436 04:18:06,240 --> 04:18:09,360 BUT BECAUSE WE HAVE YET TO 6437 04:18:09,360 --> 04:18:10,640 RENDER A PROPER DIAGNOSIS, WE 6438 04:18:10,640 --> 04:18:13,200 ARE SIMPLY TREATING THE SYMPTOMS 6439 04:18:13,200 --> 04:18:15,560 OF THIS THING AS OPPOSED TO ITS 6440 04:18:15,560 --> 04:18:16,600 ROOT CAUSES. 6441 04:18:16,600 --> 04:18:20,040 I REALLY APPRECIATE THE TIME AND 6442 04:18:20,040 --> 04:18:21,600 THE ATTENTION, THE OPPORTUNITY 6443 04:18:21,600 --> 04:18:23,960 TO SPEAK TRUTH TO POWER, DESPITE 6444 04:18:23,960 --> 04:18:26,600 MY BEING ILL THIS MORNING. 6445 04:18:26,600 --> 04:18:30,640 THE WORK THAT THE NIH DOES IS 6446 04:18:30,640 --> 04:18:31,880 INCREDIBLY IMPORTANT NOT JUST TO 6447 04:18:31,880 --> 04:18:33,720 THE RARE DISEASE COMMUNITY, BUT 6448 04:18:33,720 --> 04:18:35,120 TO THE UNITED STATES AND THE 6449 04:18:35,120 --> 04:18:37,800 GLOBAL COMMUNITY AT LARGE. 6450 04:18:37,800 --> 04:18:39,360 THANK YOU VERY MUCH FOR ALLOWING 6451 04:18:39,360 --> 04:18:46,720 ME TO ADD MY VOICE TO THIS SPA 6452 04:18:46,720 --> 04:18:56,840 SPACE. 6453 04:18:59,800 --> 04:19:02,640 >> THANK YOU VERY MUCH TO OUR 6454 04:19:02,640 --> 04:19:05,680 SPEAKERS TODAY FOR YOUR 6455 04:19:05,680 --> 04:19:08,240 INCREDIBLY POWERFUL AND 6456 04:19:08,240 --> 04:19:08,600 IMPORTANT TALKS. 6457 04:19:08,600 --> 04:19:10,160 SO, I SUPPOSE WE'LL OPEN UP AND 6458 04:19:10,160 --> 04:19:11,520 SEE IF THERE ARE QUESTIONINGS 6459 04:19:11,520 --> 04:19:11,920 FROM THE AUDIENCE. 6460 04:19:11,920 --> 04:19:14,120 IF NOT, I SUMMERY HAVE QUESTIONS 6461 04:19:14,120 --> 04:19:24,360 FOR THE PANEL. 6462 04:19:32,520 --> 04:19:33,080 >> AUDIENCE MEMBER: SO, THANK 6463 04:19:33,080 --> 04:19:36,280 YOU ALL FOR THIS CONVERSATION 6464 04:19:36,280 --> 04:19:38,600 AND MARIO, FOR YOUR STORY. 6465 04:19:38,600 --> 04:19:41,320 I THINK THAT ONE THING I WANT TO 6466 04:19:41,320 --> 04:19:43,000 SAY IS, I SEE PEOPLE INTERCHANGE 6467 04:19:43,000 --> 04:19:44,680 AND UNDER SERVED AND UNDER 6468 04:19:44,680 --> 04:19:47,760 REPRESENTED SO I'M GOING TO TELL 6469 04:19:47,760 --> 04:19:49,560 YOU HOW I DEFINE IT. 6470 04:19:49,560 --> 04:19:51,800 UNDER SERVED ARE PEOPLE WHO HAVE 6471 04:19:51,800 --> 04:19:53,160 BARRIERS AND LACK OF RESOURCES 6472 04:19:53,160 --> 04:19:55,640 WHEREAS UNDER REPRESENTED IS 6473 04:19:55,640 --> 04:19:56,000 ABOUT IDENTITY. 6474 04:19:56,000 --> 04:19:58,720 AND SO WHAT I FOUND IS THE MORE 6475 04:19:58,720 --> 04:20:00,480 POWERFUL STORIES ARE PEOPLE WHO 6476 04:20:00,480 --> 04:20:04,440 ARE UNDER REPRESENTED WHO HAVE 6477 04:20:04,440 --> 04:20:05,880 GREAT INSURANCE AND ACCESS BUT 6478 04:20:05,880 --> 04:20:08,680 THEY STILL HAVE THESE ISSUES. 6479 04:20:08,680 --> 04:20:11,080 AND SO I THINK THE STORIES LIKE 6480 04:20:11,080 --> 04:20:13,160 SERENA WILLIAMS ALMOST DYING 6481 04:20:13,160 --> 04:20:14,880 HAVING A BABY, IS A VERY GOOD 6482 04:20:14,880 --> 04:20:17,240 EXAMPLE OF THAT. 6483 04:20:17,240 --> 04:20:18,720 AND THE THINGS THAT I THINK DOES 6484 04:20:18,720 --> 04:20:20,400 HELP WITH THIS PROCESS, AND WE 6485 04:20:20,400 --> 04:20:23,440 TALKED ABOUT THIS THIS MORNING 6486 04:20:23,440 --> 04:20:24,040 ABOUT HOW PATIENTS ARE SIMILAR 6487 04:20:24,040 --> 04:20:26,240 TO WHAT MARIO WAS SAYING AND 6488 04:20:26,240 --> 04:20:28,960 THOSE FROM UNDER REPRESENTED 6489 04:20:28,960 --> 04:20:30,800 GROUPS HAVE SIMILAR EXPERIENCES, 6490 04:20:30,800 --> 04:20:32,280 BUT ONE THING THAT I FIND THAT 6491 04:20:32,280 --> 04:20:36,680 HELPS A LOT IS UNDERSTANDING THE 6492 04:20:36,680 --> 04:20:37,960 PATIENT JOURNEY. 6493 04:20:37,960 --> 04:20:38,840 SO EVEN WHEN HE TALKED ABOUT 6494 04:20:38,840 --> 04:20:41,800 FROM THE SYMPTOM TO THE 6495 04:20:41,800 --> 04:20:42,280 DIAGNOSIS, THIS IS WHAT 6496 04:20:42,280 --> 04:20:42,880 HAPPENED. 6497 04:20:42,880 --> 04:20:44,960 THERE IS NO ONE PATIENT JOURNEY. 6498 04:20:44,960 --> 04:20:46,640 AND SO, ONCE WE UNDERSTAND WHAT 6499 04:20:46,640 --> 04:20:49,040 ARE THE DIFFERENT WAYS THAT 6500 04:20:49,040 --> 04:20:52,520 PEOPLE FIND OUT HOW THEY -- WHAT 6501 04:20:52,520 --> 04:20:56,480 THEY HAVE AND THEN WHERE CAN WE 6502 04:20:56,480 --> 04:20:58,560 ACCELERATE THAT PROCESS SO THAT 6503 04:20:58,560 --> 04:20:59,840 IT'S NOT AN ODYSSEY? 6504 04:20:59,840 --> 04:21:01,640 IT'S A JOURNEY. 6505 04:21:01,640 --> 04:21:02,720 SO I'M WONDERING IF YOU CAN 6506 04:21:02,720 --> 04:21:03,480 SPEAK TO THAT. 6507 04:21:03,480 --> 04:21:05,120 LIKE, WHAT CAN WE DO TO FIX EVEN 6508 04:21:05,120 --> 04:21:06,840 THE FIRST PART, WHICH IS 6509 04:21:06,840 --> 04:21:10,080 DIAGNOSIS VERSUS TREATMENT? 6510 04:21:10,080 --> 04:21:12,160 >> THAT'S A REALLY, REALLY 6511 04:21:12,160 --> 04:21:15,360 EXCELLENT QUESTION AND I'LL PLUG 6512 04:21:15,360 --> 04:21:17,440 THAT ON MARCH 1, UNIVERSITY OF 6513 04:21:17,440 --> 04:21:19,240 MINNESOTA IS HAVING A RARE 6514 04:21:19,240 --> 04:21:22,600 DISEASE DAY EVENT. 6515 04:21:22,600 --> 04:21:23,720 EXCLUSIVELY ON THE DEI ISSUES 6516 04:21:23,720 --> 04:21:27,640 RELATED TO DIAGNOSIS AND NEWBORN 6517 04:21:27,640 --> 04:21:27,920 SCREENING. 6518 04:21:27,920 --> 04:21:29,360 SO I THINK THAT THERE IS AN 6519 04:21:29,360 --> 04:21:32,160 ENTIRE WORKSHOP TOMORROW ON 6520 04:21:32,160 --> 04:21:32,360 THAT. 6521 04:21:32,360 --> 04:21:33,520 BUT WITH THAT, I'LL OPEN IT UP 6522 04:21:33,520 --> 04:21:35,120 TO OUR PANELISTS. 6523 04:21:35,120 --> 04:21:36,880 I DON'T KNOW IF YOU HAVE 6524 04:21:36,880 --> 04:21:37,160 COMMENTS. 6525 04:21:37,160 --> 04:21:38,480 >> SURE, HONESTLY WHEN IT COMES 6526 04:21:38,480 --> 04:21:39,840 TO DIVERSE COMMUNITIES, SINCE 6527 04:21:39,840 --> 04:21:40,840 THEY HAVE BEEN SO UNDER STUDIED, 6528 04:21:40,840 --> 04:21:42,840 WE DON'T KNOW WHAT WE DON'T KNOW 6529 04:21:42,840 --> 04:21:43,040 YET. 6530 04:21:43,040 --> 04:21:44,440 SO THERE ARE TONS OF VARIANTS OF 6531 04:21:44,440 --> 04:21:46,560 SIGNIFICANCE FOR US TO DISCOVER. 6532 04:21:46,560 --> 04:21:47,720 AND THAT IS WHY I'M HOPEFUL THAT 6533 04:21:47,720 --> 04:21:50,440 THE NIH AND ALL THE OTHER 6534 04:21:50,440 --> 04:21:51,480 ORGANIZATIONS THAT FUND AND 6535 04:21:51,480 --> 04:21:52,800 PROMOTE THIS KIND OF RESEARCH 6536 04:21:52,800 --> 04:21:55,120 WILL REALLY LEAN IN ON A 6537 04:21:55,120 --> 04:21:57,080 DIVERSITY FUND TO MAKE SURE THAT 6538 04:21:57,080 --> 04:21:57,720 WE UNDERSTAND IT. 6539 04:21:57,720 --> 04:21:58,360 I LOVE MARIO'S COMMENTS. 6540 04:21:58,360 --> 04:22:00,560 I WAS ACTUALLY ON THAT TASK 6541 04:22:00,560 --> 04:22:01,920 FORCE FOR THE AMERICAN SOCIETY 6542 04:22:01,920 --> 04:22:03,600 FOR HUMAN GENETICS THAT 6543 04:22:03,600 --> 04:22:04,480 DELIVERED THAT REPORT. 6544 04:22:04,480 --> 04:22:06,920 WE WORKED IF 18 MONTHS TO GET AT 6545 04:22:06,920 --> 04:22:09,920 AND DO THE KIND OF ESSAY, THE 6546 04:22:09,920 --> 04:22:10,960 DIRTY WORK, TO UNDERSTAND THE 6547 04:22:10,960 --> 04:22:14,520 UGLY HISTORY OF RACISM IN THAT 6548 04:22:14,520 --> 04:22:14,840 ORGANIZATION. 6549 04:22:14,840 --> 04:22:16,480 AND REALLY GET TO A POINT OF, I 6550 04:22:16,480 --> 04:22:18,080 CALL IT RECONCILIATION. 6551 04:22:18,080 --> 04:22:21,960 I'M HOPING THAT WE CAN DO THAT. 6552 04:22:21,960 --> 04:22:23,160 RICK LARGE AND THE MEDICAL 6553 04:22:23,160 --> 04:22:24,640 COMMUNITY, WILL MAKE A LOT OF 6554 04:22:24,640 --> 04:22:27,520 MINORITY UNDER SERVED AND UNDER 6555 04:22:27,520 --> 04:22:28,200 REPRESENTED INDIVIDUALS MORE 6556 04:22:28,200 --> 04:22:29,720 LIKELY TO PARTICIPATE. 6557 04:22:29,720 --> 04:22:32,640 BUT THAT IS SOMETHING THAT -- 6558 04:22:32,640 --> 04:22:33,360 THAT'S AN ALL HANDS ON DECK 6559 04:22:33,360 --> 04:22:33,760 EFFORT. 6560 04:22:33,760 --> 04:22:35,800 SO EVERYBODY, WHETHER YOUR FROM 6561 04:22:35,800 --> 04:22:37,320 THE MINORITY GROUP OR UNDER 6562 04:22:37,320 --> 04:22:38,040 REPRESENTED GROUP, EVERYBODY HAS 6563 04:22:38,040 --> 04:22:42,280 A STEAK IN THAT AND I'M HOPING 6564 04:22:42,280 --> 04:22:42,920 WE CARRY THAT MESSAGE AND MAKE 6565 04:22:42,920 --> 04:22:49,520 IT HAPPEN. 6566 04:22:49,520 --> 04:22:55,480 >> WE HAVE TWO MINUTES, ALL 6567 04:22:55,480 --> 04:22:55,680 RIGHT. 6568 04:22:55,680 --> 04:22:56,280 >> AUDIENCE MEMBER: I PROBABLY 6569 04:22:56,280 --> 04:22:59,240 DON'T FULLY UNDERSTAND, BUT SO 6570 04:22:59,240 --> 04:23:02,160 YOU HAVE INEQUITY AND THEN YOU 6571 04:23:02,160 --> 04:23:02,760 ALSO HAVE THESE RARE DISEASES 6572 04:23:02,760 --> 04:23:04,120 THAT ARE RARE. 6573 04:23:04,120 --> 04:23:06,520 AND SO WE UNDERSTAND, AT LEAST 6574 04:23:06,520 --> 04:23:08,840 WHERE I WORK, THAT WE NEED MORE 6575 04:23:08,840 --> 04:23:09,880 VOICES. 6576 04:23:09,880 --> 04:23:12,680 BUT WE'RE HAVING TROUBLE GETTING 6577 04:23:12,680 --> 04:23:13,320 THOSE VOICES. 6578 04:23:13,320 --> 04:23:15,040 AND I LISTEN TO TALKS LIKE THESE 6579 04:23:15,040 --> 04:23:16,800 AND I'M LIKE, I KNOW WHAT I 6580 04:23:16,800 --> 04:23:17,920 NEED, BUT HOW? 6581 04:23:17,920 --> 04:23:21,320 WE CAN'T JUST WALK OUT AND DO 6582 04:23:21,320 --> 04:23:22,040 COMMUNITY EVENTS BECAUSE THERE 6583 04:23:22,040 --> 04:23:23,320 MIGHT NOT BE ANYONE IN THE 6584 04:23:23,320 --> 04:23:26,520 COMMUNITY THAT HAS OUR SPECIFIC 6585 04:23:26,520 --> 04:23:29,280 DISEASE THAT ALSO IS UNDER 6586 04:23:29,280 --> 04:23:29,600 REPRESENTED. 6587 04:23:29,600 --> 04:23:31,240 AND SO HOW DO THESE SMALL 6588 04:23:31,240 --> 04:23:33,160 GRASSROOTS ORGANIZATIONS WITH 6589 04:23:33,160 --> 04:23:36,280 LIMITED BUDGETS GET THE 6590 04:23:36,280 --> 04:23:37,240 INVOLVEMENT THAT WE NEED? 6591 04:23:37,240 --> 04:23:39,520 AND NO ONE EVER REALLY SEEMS TO 6592 04:23:39,520 --> 04:23:44,080 HAVE MUCH OF AN ANSWER. 6593 04:23:44,080 --> 04:23:45,080 >> YES, I MIGHT JUST LEAD OFF BY 6594 04:23:45,080 --> 04:23:47,960 SAYING THERE IS A LOT OF DRIVERS 6595 04:23:47,960 --> 04:23:51,000 THAT LEAD TO THAT OUTCOME OF NOT 6596 04:23:51,000 --> 04:23:54,600 HAVING A REPRESENTATIVE GROUP AT 6597 04:23:54,600 --> 04:23:54,840 THE TABLE. 6598 04:23:54,840 --> 04:23:57,560 AND I UNDERSTAND A LOT OF THOSE 6599 04:23:57,560 --> 04:24:02,240 DRIVERS ARE DAUNTING. 6600 04:24:02,240 --> 04:24:04,280 HOWEVER, WITHIN COMMUNITIES, YOU 6601 04:24:04,280 --> 04:24:06,800 CAN IDENTIFY ARE THERE EFFORTS 6602 04:24:06,800 --> 04:24:10,520 THAT YOU CONTRIBUTE TO IMPROVE 6603 04:24:10,520 --> 04:24:11,120 EQUITABLE DIAGNOSIS FOR YOUR 6604 04:24:11,120 --> 04:24:11,360 CONDITION? 6605 04:24:11,360 --> 04:24:13,960 YOU CAN LOOK IN TERMS OF -- IT 6606 04:24:13,960 --> 04:24:15,680 IS BUILT OFF SOME OF THE IDEAS 6607 04:24:15,680 --> 04:24:18,880 THAT MARIO BROUGHT UP, BUILDING 6608 04:24:18,880 --> 04:24:19,600 COALITIONS AND BUILDING 6609 04:24:19,600 --> 04:24:22,640 COMMUNITIES SO THAT WHEN THERE 6610 04:24:22,640 --> 04:24:25,880 ARE TOPICS THAT ARE LARGER THAN 6611 04:24:25,880 --> 04:24:28,040 ONE RARE DISEASE, CAN THE ENTIRE 6612 04:24:28,040 --> 04:24:30,160 RARE DISEASE COMMUNITY ADDRESS 6613 04:24:30,160 --> 04:24:31,000 THEM IN WHOLE? 6614 04:24:31,000 --> 04:24:33,760 AND ALSO ADVOCATING FOR THE 6615 04:24:33,760 --> 04:24:34,080 SMALL THINGS. 6616 04:24:34,080 --> 04:24:35,560 I THINK OFTEN IN THESE KIND OF 6617 04:24:35,560 --> 04:24:39,160 WORKSHOP ENVIRONMENTS, WE HEAR A 6618 04:24:39,160 --> 04:24:40,920 LOT OF THE POTENTIAL MEASURES 6619 04:24:40,920 --> 04:24:43,560 THAT CAN BE TAKEN TO IMPROVE 6620 04:24:43,560 --> 04:24:45,720 REPRESENTATION AND ENGAGEMENT, 6621 04:24:45,720 --> 04:24:51,120 WHETHER THAT'S TRANSLATING YOUR 6622 04:24:51,120 --> 04:24:53,000 WEBSITE, WHETHER THAT'S MAKING 6623 04:24:53,000 --> 04:24:53,600 SURE THAT YOU'RE HAVING FREE 6624 04:24:53,600 --> 04:24:56,800 REGISTRATION OPTIONS SO THAT 6625 04:24:56,800 --> 04:24:57,320 MONEY IS NOT A BARRIER TO 6626 04:24:57,320 --> 04:24:59,560 ATTENDING YOUR EVENTS. 6627 04:24:59,560 --> 04:25:02,520 AND SO FORTH. 6628 04:25:02,520 --> 04:25:06,640 BUT TRYING TO LOOK INTO THOSE 6629 04:25:06,640 --> 04:25:08,240 SORT OF PRE-IDENTIFIED MEASURES 6630 04:25:08,240 --> 04:25:10,680 IS ALSO ANOTHER WAY THAT 6631 04:25:10,680 --> 04:25:11,920 COMMUNITIES CAN DRIVE THIS 6632 04:25:11,920 --> 04:25:12,160 FORWARD. 6633 04:25:12,160 --> 04:25:13,200 I DEFINITELY RECOGNIZE AND HEAR 6634 04:25:13,200 --> 04:25:15,520 WHAT YOU'RE SAYING BUT BECAUSE 6635 04:25:15,520 --> 04:25:17,320 THESE ARE MULTI-LAYERED 6636 04:25:17,320 --> 04:25:20,560 PROBLEMS, THERE IS NOT A SILVER 6637 04:25:20,560 --> 04:25:21,440 BULLET SOLUTION. 6638 04:25:21,440 --> 04:25:25,160 IT'S COMMITTING TO 20 TO 30 6639 04:25:25,160 --> 04:25:27,600 SOLUTIONS TO SEE THE OUTCOME 6640 04:25:27,600 --> 04:25:32,800 THAT YOU WANT. 6641 04:25:32,800 --> 04:25:35,080 I'M INTERESTED IN MARIO'S 6642 04:25:35,080 --> 04:25:37,240 THOUGHTS ON THAT QUESTION. 6643 04:25:37,240 --> 04:25:41,240 >> MARIO ESTEVEZ: OUR BOARD IS 6644 04:25:41,240 --> 04:25:47,240 REALLY DIVERSE. 6645 04:25:47,240 --> 04:25:47,760 AND AM I NOT ON AUDIO? 6646 04:25:47,760 --> 04:25:49,000 CAN YOU HEAR ME? 6647 04:25:49,000 --> 04:25:51,320 >> I CAN HEAR YOU, MARIO. 6648 04:25:51,320 --> 04:25:54,280 I'M NOT SURE IF THEY CAN IN THE 6649 04:25:54,280 --> 04:25:59,840 AUDITORIUM. 6650 04:25:59,840 --> 04:26:00,920 >> I THINK LIKE TO ME, THERE IS 6651 04:26:00,920 --> 04:26:03,120 LIKE TWO CONCEPTS THERE AT PLAY. 6652 04:26:03,120 --> 04:26:06,600 I THINK AT FIRST IT'S ONE OF 6653 04:26:06,600 --> 04:26:08,080 FEASIBILITY AND THEN EVENTUALLY 6654 04:26:08,080 --> 04:26:09,520 EQUITY. 6655 04:26:09,520 --> 04:26:13,680 SO I THINK THAT IN LIKE MANY 6656 04:26:13,680 --> 04:26:14,360 YEARS AGO FOR EXAMPLE FOR GENE 6657 04:26:14,360 --> 04:26:16,320 THERAPIES AND GENOME EDITING, IT 6658 04:26:16,320 --> 04:26:19,480 WASN'T TECHNICALLY FEASIBLE TO 6659 04:26:19,480 --> 04:26:27,120 BE ABLE TO ADDRESS 6660 04:26:27,120 --> 04:26:37,360 [ INAUDIBLE ] 6661 04:27:01,760 --> 04:27:04,280 IF IT BECOMES POSSIBLE TO HAVE 6662 04:27:04,280 --> 04:27:06,360 MORE PATIENTS AND MUTATIONS, CAN 6663 04:27:06,360 --> 04:27:07,760 WE DO THIS IN A WAY THAT IS 6664 04:27:07,760 --> 04:27:09,200 BROADLY EQUITABLE? 6665 04:27:09,200 --> 04:27:11,320 >> I'LL ADD ONE COMMENT ABOUT 6666 04:27:11,320 --> 04:27:12,040 THE DIVERSITY PIECE BECAUSE THE 6667 04:27:12,040 --> 04:27:13,840 DISEASE YOU WORK ON, SICKLE CELL 6668 04:27:13,840 --> 04:27:16,000 DISEASE IT'S A GENETIC DISORDER. 6669 04:27:16,000 --> 04:27:19,600 WE KNOWN IT FOR A LONG TIME AND 6670 04:27:19,600 --> 04:27:20,240 PRE DOMESTIC LET EFFECTS PEOPLE 6671 04:27:20,240 --> 04:27:21,400 OF AFRICAN DECENT. 6672 04:27:21,400 --> 04:27:22,400 IT WILL BE CURED IN OUR 6673 04:27:22,400 --> 04:27:22,680 LIFETIME. 6674 04:27:22,680 --> 04:27:25,280 I'M BANKING ON YOUR WORK. 6675 04:27:25,280 --> 04:27:25,920 BUT WHAT IS REALLY EXCITING FOR 6676 04:27:25,920 --> 04:27:27,480 ME IS THAT, THAT WILL BE AN 6677 04:27:27,480 --> 04:27:33,960 EXAMPLE OF US CURING A GENETIC 6678 04:27:33,960 --> 04:27:34,480 DISEASE. 6679 04:27:34,480 --> 04:27:35,080 I DON'T KNOW IF YOU CALL IT AS 6680 04:27:35,080 --> 04:27:35,680 RARE -- I GUESS IT STILL IS. 6681 04:27:35,680 --> 04:27:37,160 BUT IN A MINORITY POPULATION 6682 04:27:37,160 --> 04:27:39,880 THAT IS AFFECTED AND THAT SHOULD 6683 04:27:39,880 --> 04:27:41,240 GIVE PEOPLE OF COLOR VERY 6684 04:27:41,240 --> 04:27:42,840 EXCITED AND IT SHOULD MAKE YOU 6685 04:27:42,840 --> 04:27:47,320 WANT TO KNOW WHAT YOUR STATUS 6686 04:27:47,320 --> 04:27:47,480 ASK. 6687 04:27:47,480 --> 04:27:47,680 RIGHT? 6688 04:27:47,680 --> 04:27:48,280 SO INACCURATING MORE EXAMPLES 6689 04:27:48,280 --> 04:27:50,800 LIKE THESE AND THEN ALSO MAKING 6690 04:27:50,800 --> 04:27:52,240 SURE THAT AS THAT RESEARCH CURSE 6691 04:27:52,240 --> 04:27:55,480 AND NEW GENERATIONS OF IT GET 6692 04:27:55,480 --> 04:27:58,560 DONE -- OCCURS, PEOPLE ARE OF 6693 04:27:58,560 --> 04:28:01,000 COLOR ARE INVOLVED THROUGHOUT 6694 04:28:01,000 --> 04:28:01,600 THE MESSAGE AND IT WILL FORCE 6695 04:28:01,600 --> 04:28:03,360 MULTIPLY THAT MESSAGE. 6696 04:28:03,360 --> 04:28:04,520 >> AND I DO THINK WE ARE OUT OF 6697 04:28:04,520 --> 04:28:05,080 TIME NOW. 6698 04:28:05,080 --> 04:28:08,680 I WISH WE COULD TAKE YOUR 6699 04:28:08,680 --> 04:28:12,640 QUESTIONS. 6700 04:28:12,640 --> 04:28:15,320 THANK YOU ALL SO MUCH. 6701 04:28:15,320 --> 04:28:25,720 IT WAS A REAL PLEASURE. 6702 04:28:44,560 --> 04:28:54,640 [ BREAK ] 6703 04:29:16,080 --> 04:29:20,600 WE ARE GOING TO KEEP MOVING 6704 04:29:20,600 --> 04:29:22,600 FORWARD. 6705 04:29:22,600 --> 04:29:27,040 WE ARE ON NUMBER 3. 6706 04:29:27,040 --> 04:29:29,320 I'M WHERE THERE IS RESEARCH 6707 04:29:29,320 --> 04:29:31,120 THERE IS HOPE. 6708 04:29:31,120 --> 04:29:38,000 MARCELLA IS A STAFF CLINICIAN 6709 04:29:38,000 --> 04:29:41,800 HERE AT NIAMS NIH AND MICHAEL IS 6710 04:29:41,800 --> 04:29:44,200 THE DIRECTOR AND VICE-CHAIR OF 6711 04:29:44,200 --> 04:29:54,600 THE RE-- FOUNDATION. 6712 04:30:23,680 --> 04:30:25,560 RELAPSING POLYCHONDRITIS 6713 04:30:25,560 --> 04:30:26,280 FOUNDATION. 6714 04:30:26,280 --> 04:30:29,040 >> I'M VERY HAPPY, EXCITED TO BE 6715 04:30:29,040 --> 04:30:30,280 HERE TODAY TO GIVE YOU THIS 6716 04:30:30,280 --> 04:30:30,640 TALK. 6717 04:30:30,640 --> 04:30:33,160 AGAIN MY NAME IS MARCELA 6718 04:30:33,160 --> 04:30:33,400 FERRADA. 6719 04:30:33,400 --> 04:30:37,880 I'M A STAFF CLINICIAN AT NYE 6720 04:30:37,880 --> 04:30:39,480 ALPS AND I ALSO HAVE A RARE 6721 04:30:39,480 --> 04:30:41,400 DISEASE. 6722 04:30:41,400 --> 04:30:42,840 -- NIAMS. 6723 04:30:42,840 --> 04:30:45,160 I'M TRULY HONORED. 6724 04:30:45,160 --> 04:30:48,040 SO THE TITLE OF OUR TALK IS, 6725 04:30:48,040 --> 04:30:50,520 WHERE THERE IS RESEARCH, THERE 6726 04:30:50,520 --> 04:30:52,680 IS HOPE. 6727 04:30:52,680 --> 04:30:55,960 AND MOST IMPORTANTLY IS THAT WE 6728 04:30:55,960 --> 04:30:56,520 HAVE RESEARCH. 6729 04:30:56,520 --> 04:30:58,880 I HAVE NO FINANCIAL DISCLOSURES 6730 04:30:58,880 --> 04:31:04,440 BUT I DO WANT TO SAY, I AM 6731 04:31:04,440 --> 04:31:07,440 EMOTIONALLY ATTACHED TO THIS 6732 04:31:07,440 --> 04:31:08,040 INSTITUTION AND YOU'RE GOING TO 6733 04:31:08,040 --> 04:31:11,280 SEE WHY THROUGH MY PRESENTATION. 6734 04:31:11,280 --> 04:31:13,600 SO THAT'S SUPPOSED TO BE ME 6735 04:31:13,600 --> 04:31:15,560 STANDING THERE AT THE END OF THE 6736 04:31:15,560 --> 04:31:16,280 STORM. 6737 04:31:16,280 --> 04:31:18,240 SO I FINISHED MY TRAINING IN 6738 04:31:18,240 --> 04:31:20,680 CRITICAL CARE AND INFECTIOUS 6739 04:31:20,680 --> 04:31:22,600 DISEASES AND THEN I WAS JUST 6740 04:31:22,600 --> 04:31:24,560 THINKING YOU KNOW, YOU GO ON 6741 04:31:24,560 --> 04:31:26,360 WITH YOUR LIFE, YOU'RE DONE WITH 6742 04:31:26,360 --> 04:31:29,600 ALL OF THIS YEAR'S TRAINING BUT 6743 04:31:29,600 --> 04:31:33,200 UNFORTUNATELY, THERE WAS A BIG 6744 04:31:33,200 --> 04:31:35,280 STORM COMING AFTER ME AND THE 6745 04:31:35,280 --> 04:31:39,720 NAME OF THAT STORM IS RELAPSING 6746 04:31:39,720 --> 04:31:40,480 POLYCHONDRITIS. 6747 04:31:40,480 --> 04:31:43,120 AND IT IS A RARE DISEASE THAT 6748 04:31:43,120 --> 04:31:45,440 LIKE MANY OTHER PEOPLE IN FACT, 6749 04:31:45,440 --> 04:31:51,160 MORE THAN 30 MILLION AMERICANS 6750 04:31:51,160 --> 04:31:51,480 EXPERIENCE. 6751 04:31:51,480 --> 04:31:53,040 THERE IS MORE THAN 10 MILLION 6752 04:31:53,040 --> 04:31:55,000 RARE DISEASES. 6753 04:31:55,000 --> 04:31:56,760 SO THIS STORM THAT COME AFTER US 6754 04:31:56,760 --> 04:31:59,280 IS SOMETHING THAT IS GOING TO 6755 04:31:59,280 --> 04:32:02,160 CHANGE HOW OUR LIVES ARE 6756 04:32:02,160 --> 04:32:02,400 FOREVER. 6757 04:32:02,400 --> 04:32:03,200 OUR LIVES AND THE LIVES OF OUR 6758 04:32:03,200 --> 04:32:03,880 FAMILY MEMBERS AND EVERYBODY 6759 04:32:03,880 --> 04:32:07,000 THAT IS AROUND US. 6760 04:32:07,000 --> 04:32:08,400 AND CARE FOR US. 6761 04:32:08,400 --> 04:32:10,720 SO I WANTED TO TAKE THE 6762 04:32:10,720 --> 04:32:14,960 OPPORTUNITY, OF COURSE, BECAUSE 6763 04:32:14,960 --> 04:32:15,560 WE HAVE OUR RARE DISEASE, THEN 6764 04:32:15,560 --> 04:32:16,200 YOU WANT EVERYBODY TO KNOW ABOUT 6765 04:32:16,200 --> 04:32:16,640 YOUR DISEASE, RIGHT? 6766 04:32:16,640 --> 04:32:17,960 SO THEN YOU WILL BE IN AT LEAST 6767 04:32:17,960 --> 04:32:21,480 LIKE A LITTLE BIT OF KNOWING 6768 04:32:21,480 --> 04:32:21,680 YOU. 6769 04:32:21,680 --> 04:32:24,400 LIKE IF I'M IN AN AIRPORT OF 6770 04:32:24,400 --> 04:32:25,240 AIRPLANE, I WILL SAY DO YOU WANT 6771 04:32:25,240 --> 04:32:27,040 TO KNOW ABOUT RELAPSING 6772 04:32:27,040 --> 04:32:27,400 POLYCHONDRITIS. 6773 04:32:27,400 --> 04:32:29,840 IT IS SYSTEMIC INFLAMMATORY 6774 04:32:29,840 --> 04:32:32,920 DISEASE THAT IS RARE THAT 6775 04:32:32,920 --> 04:32:35,800 EFFECTS THE CARTILAGE AND IT HAS 6776 04:32:35,800 --> 04:32:37,960 DIFFERENT SYMPTOMS BETWEEN THE 6777 04:32:37,960 --> 04:32:38,640 PATIENTS. 6778 04:32:38,640 --> 04:32:41,480 THAT MEANS THAT THE CLINICAL 6779 04:32:41,480 --> 04:32:43,080 REPRESENTATIONS ARE VERY 6780 04:32:43,080 --> 04:32:44,160 VARIABLE AND THE PROBLEM WITH 6781 04:32:44,160 --> 04:32:46,280 THIS IS THAT THE DIAGNOSIS IS A 6782 04:32:46,280 --> 04:32:47,520 CLINICAL DIAGNOSIS AND BECAUSE 6783 04:32:47,520 --> 04:32:50,680 THE SYMPTOMS ARE SO DIFFERENT IS 6784 04:32:50,680 --> 04:32:53,520 THAT THEY ARE DIFFICULT TO MAKE 6785 04:32:53,520 --> 04:32:54,480 LIKE MANY RARE DISEASES. 6786 04:32:54,480 --> 04:32:56,680 YOU GUYS PROBABLY HAVE THE SAME 6787 04:32:56,680 --> 04:32:57,320 EXPERIENCE. 6788 04:32:57,320 --> 04:32:59,920 AND THEN BASED ON THIS, WE ALSO 6789 04:32:59,920 --> 04:33:01,600 SINCE THE BEGINNING WHEN WE 6790 04:33:01,600 --> 04:33:03,760 START STUDYING THE DISEASE, WE 6791 04:33:03,760 --> 04:33:05,160 REALIZE THAT THIS WAS ALREADY 6792 04:33:05,160 --> 04:33:06,400 MORE THAN ONE CONDITION. 6793 04:33:06,400 --> 04:33:08,160 LIKE THE CAUSE OF THE DISEASE 6794 04:33:08,160 --> 04:33:09,280 WAS LIKE MORE THAN ONE. 6795 04:33:09,280 --> 04:33:11,880 AND IN HERE, I WANT TO SHOW YOU 6796 04:33:11,880 --> 04:33:14,520 THE ORGAN INVOLVEMENT IN 6797 04:33:14,520 --> 04:33:16,520 RELAPSING POLYCHONDRITIS IN 6798 04:33:16,520 --> 04:33:17,400 GENERAL T EFFECTS THE CARTILAGE. 6799 04:33:17,400 --> 04:33:20,040 SO IN THE EAR AND THE NOSE AND 6800 04:33:20,040 --> 04:33:21,080 THE AIRWAY BECAUSE YOU HAVE A 6801 04:33:21,080 --> 04:33:22,840 LOT OF CARTILAGE IN THE AIRWAY. 6802 04:33:22,840 --> 04:33:25,480 THE INNER EAR, WHICH IS GOING TO 6803 04:33:25,480 --> 04:33:28,080 GIVE YOU HEARING LOSS. 6804 04:33:28,080 --> 04:33:30,600 THE EYES AND THE JOINTS IN ALL 6805 04:33:30,600 --> 04:33:30,920 OF YOUR BODY. 6806 04:33:30,920 --> 04:33:32,240 NOW THESE ARE THE MAIN SYMPTOMS 6807 04:33:32,240 --> 04:33:34,320 BUT AS I WAS SAYING BEFORE, THE 6808 04:33:34,320 --> 04:33:36,560 CLINICAL MANIFESTATIONS COULD BE 6809 04:33:36,560 --> 04:33:39,640 VERY DIFFERENT AND THEN IT IS 6810 04:33:39,640 --> 04:33:41,040 VERY SYSTEMIC. 6811 04:33:41,040 --> 04:33:42,960 SO IT CAN EFFECT MANY OTHER 6812 04:33:42,960 --> 04:33:48,000 ORGANS THAT WE ARE DISCOVERING. 6813 04:33:48,000 --> 04:33:51,200 SO, WHAT HAPPENS WHEN YOU HAVE 6814 04:33:51,200 --> 04:33:51,640 RARE DISEASE? 6815 04:33:51,640 --> 04:33:53,760 SO BEFORE YOU HAVE A RARE 6816 04:33:53,760 --> 04:33:54,920 DISEASE, WE ALL HAVE 6817 04:33:54,920 --> 04:33:55,240 EXPERIENCES. 6818 04:33:55,240 --> 04:33:57,200 OR HAVE YOU NO IDEA WHAT IS 6819 04:33:57,200 --> 04:33:58,000 GOING ON. 6820 04:33:58,000 --> 04:33:59,680 HOW I HAVE THESE SYMPTOMS? 6821 04:33:59,680 --> 04:34:05,840 NOBODY CAN TELL YOU WHAT IT IS? 6822 04:34:05,840 --> 04:34:06,520 ALL THE DOCTORS GIVE YOU 6823 04:34:06,520 --> 04:34:07,120 DIAGNOSIS AND THEN ANOTHER ONE 6824 04:34:07,120 --> 04:34:08,000 AND THEN HAVE YOU NO IDEA WHO IF 6825 04:34:08,000 --> 04:34:11,320 GOING TO TREAT YOU. 6826 04:34:11,320 --> 04:34:11,720 OR DIE. 6827 04:34:11,720 --> 04:34:13,960 OR YOU HAVE NOTHING, THIS IS ALL 6828 04:34:13,960 --> 04:34:15,800 IN YOUR HEAD. 6829 04:34:15,800 --> 04:34:18,280 WHAT HAPPENS WHEN YOU GET 6830 04:34:18,280 --> 04:34:20,760 DIAGNOSIS, IT'S KIND OF LIKE THE 6831 04:34:20,760 --> 04:34:21,600 SAME EXPERIENCE WITH THE ERRORS 6832 04:34:21,600 --> 04:34:23,240 BECAUSE YOU GET A DIAGNOSIS AND 6833 04:34:23,240 --> 04:34:24,840 YOU'RE LIKE, OKAY, FINALLY, I 6834 04:34:24,840 --> 04:34:26,800 HAVE A DIAGNOSIS. 6835 04:34:26,800 --> 04:34:27,000 CRATE. 6836 04:34:27,000 --> 04:34:28,120 AND THEN YOU GO AND LOOK IT UP 6837 04:34:28,120 --> 04:34:29,840 AND THEN YOU REALIZE THAT THIS 6838 04:34:29,840 --> 04:34:31,280 IS A RARE DISEASE. 6839 04:34:31,280 --> 04:34:32,680 AND THEN YOU'RE LEFT OKAY, NOW 6840 04:34:32,680 --> 04:34:33,880 WHAT DO I DO WITH IT? 6841 04:34:33,880 --> 04:34:35,880 NOW I HAVE A RARE DISEASE. 6842 04:34:35,880 --> 04:34:36,960 THERE IS NO OTHER RESEARCH. 6843 04:34:36,960 --> 04:34:38,480 WE DON'T KNOW WHAT TO DO ABOUT 6844 04:34:38,480 --> 04:34:38,680 IT. 6845 04:34:38,680 --> 04:34:42,680 HOW DO YOU TREAT IT? 6846 04:34:42,680 --> 04:34:44,360 HOW MANY DOCTORS IN THE WORLD 6847 04:34:44,360 --> 04:34:46,600 THAT CAN TREAT MY RARE DISEASE? 6848 04:34:46,600 --> 04:34:48,680 WHERE DO I GO FROM HERE? 6849 04:34:48,680 --> 04:34:51,360 HERE I POSTED SOME RESOURCES 6850 04:34:51,360 --> 04:34:52,960 THAT I THINK THAT ARE VERY 6851 04:34:52,960 --> 04:34:53,880 USEFUL WHEN YOU GOET 6852 04:34:53,880 --> 04:34:56,520 DIAGNOSEDDED WITH A RARE 6853 04:34:56,520 --> 04:34:56,760 DISEASE. 6854 04:34:56,760 --> 04:34:58,640 OF COURSE I AM EMOTIONALLY 6855 04:34:58,640 --> 04:35:02,640 BIASED SO I HAVE TO PUT IT 6856 04:35:02,640 --> 04:35:03,080 FIRST. 6857 04:35:03,080 --> 04:35:03,640 ALSO VERY, VERY USEFUL. 6858 04:35:03,640 --> 04:35:06,200 AND THEN THE FOUNDATIONS. 6859 04:35:06,200 --> 04:35:07,080 SO IF YOU HAVE A RARE DISEASE, I 6860 04:35:07,080 --> 04:35:08,440 BET THERE IS GOING TO BE A 6861 04:35:08,440 --> 04:35:11,480 FOUNDATION AND IF NOT, THEN YOU 6862 04:35:11,480 --> 04:35:13,120 CAN CREATE ONE BECAUSE IT'S 6863 04:35:13,120 --> 04:35:14,880 EXTREMELY HELPFUL FOR THE 6864 04:35:14,880 --> 04:35:17,200 PATIENTS AND FOR THE OVERALL 6865 04:35:17,200 --> 04:35:19,560 UNDERSTANDING OF THE DISEASE IN 6866 04:35:19,560 --> 04:35:23,520 TEACHING AWARENESS AND 6867 04:35:23,520 --> 04:35:23,800 EVERYTHING. 6868 04:35:23,800 --> 04:35:28,400 THIS IS AN EXAMPLE TO ME 6869 04:35:28,400 --> 04:35:30,840 VASCULITIS FOUNDATION OF A VERY 6870 04:35:30,840 --> 04:35:32,320 GOOD FOUNDATION. 6871 04:35:32,320 --> 04:35:32,960 AND THEN THE OTHER PART THAT IS 6872 04:35:32,960 --> 04:35:34,480 VERY IMPORTANT FOR RESEARCH IS 6873 04:35:34,480 --> 04:35:36,960 THAT THE ONLINE SUPPORT GROUPS. 6874 04:35:36,960 --> 04:35:38,360 AND THAT FOR ME, WAS SUPER 6875 04:35:38,360 --> 04:35:39,520 HELPFUL BECAUSE THEN YOU CAN 6876 04:35:39,520 --> 04:35:43,280 RELATE TO OTHER PEOPLE THAT HAVE 6877 04:35:43,280 --> 04:35:47,320 YOUR SAME EXPERIENCE. 6878 04:35:47,320 --> 04:35:49,920 BEFORE DOING ANYTHING, YOU'RE AT 6879 04:35:49,920 --> 04:35:50,160 NEW LINE. 6880 04:35:50,160 --> 04:35:52,160 SO SO MANY THINGS ARE GOING 6881 04:35:52,160 --> 04:35:54,240 THROUGH YOUR HEAD DESPITE HAVING 6882 04:35:54,240 --> 04:35:54,920 THE KNOWLEDGE, DESPITE KNOWING 6883 04:35:54,920 --> 04:35:57,760 WHAT IS GOING TO HAPPEN, YOU 6884 04:35:57,760 --> 04:35:59,040 WOULD BE MEETING PEOPLE THAT 6885 04:35:59,040 --> 04:36:00,960 HAVE GONE THROUGH THE SAME 6886 04:36:00,960 --> 04:36:02,320 PROCESS THAT CAN GUIDE YOU AND 6887 04:36:02,320 --> 04:36:10,200 CAN TEACH YOU AND MAKE YOU FEEL 6888 04:36:10,200 --> 04:36:12,280 BETTER. 6889 04:36:12,280 --> 04:36:14,200 SO THEN AFTER YOU GET 6890 04:36:14,200 --> 04:36:16,280 DIAGNOSEDDED WITH A RARE DISEASE 6891 04:36:16,280 --> 04:36:17,240 THEN WHAT HAPPENS? 6892 04:36:17,240 --> 04:36:17,960 I THINK YOU GO THROUGH THE 6893 04:36:17,960 --> 04:36:18,640 GRIEVING PROCESS. 6894 04:36:18,640 --> 04:36:20,920 AND IN MY OPINION, YOU NEED TO 6895 04:36:20,920 --> 04:36:21,800 HAVE MORE THAN FIVE THINGS TO BE 6896 04:36:21,800 --> 04:36:23,880 ABLE TO MOVE FORWARD. 6897 04:36:23,880 --> 04:36:26,080 SO YOU GO -- THIS IS WHERE THEY 6898 04:36:26,080 --> 04:36:27,840 TEACH YOU IN MEDICAL SCHOOL. 6899 04:36:27,840 --> 04:36:29,960 THEY SAY DENIAL, WHY ME? 6900 04:36:29,960 --> 04:36:31,360 AND THEN ANGER. 6901 04:36:31,360 --> 04:36:31,760 I HATE THE WORLD! 6902 04:36:31,760 --> 04:36:33,600 AND THEN WHY IS THIS HAPPENING? 6903 04:36:33,600 --> 04:36:36,040 I PROMISE I'LL DO THIS AND DON'T 6904 04:36:36,040 --> 04:36:38,200 EAT CHOCOLATE AND YOU TAKE THE 6905 04:36:38,200 --> 04:36:39,320 DISEASE AWAY FROM ME. 6906 04:36:39,320 --> 04:36:41,840 AND THEN DEPRESSION, WHICH IS 6907 04:36:41,840 --> 04:36:43,040 EXTREMELY HARD AS A PATIENT TO 6908 04:36:43,040 --> 04:36:44,200 GO THROUGH ALL YOUR EMOTIONS AND 6909 04:36:44,200 --> 04:36:46,720 EVERYTHING THAT IS HAPPENING. 6910 04:36:46,720 --> 04:36:50,240 PLUS YOU KNOW, I TOOK THE 6911 04:36:50,240 --> 04:36:54,360 EMOTIONS OF HAVING A RARE 6912 04:36:54,360 --> 04:36:55,480 DISEASE, STEROIDS. 6913 04:36:55,480 --> 04:36:59,960 AND THEN TELL ME HOW DID THE 6914 04:36:59,960 --> 04:37:02,520 DEPRESSION PHASE GO? 6915 04:37:02,520 --> 04:37:04,200 THEN YOU GO INTO ACCEPTANCE. 6916 04:37:04,200 --> 04:37:06,400 AND THEN YOU ACCEPT THAT YOU 6917 04:37:06,400 --> 04:37:08,080 HAVE THE DISEASE BUT ON TOP OF 6918 04:37:08,080 --> 04:37:10,800 THAT, A VERY IMPORTANT ASPECT OF 6919 04:37:10,800 --> 04:37:13,240 THIS IS FEAR BECAUSE THE FEAR OF 6920 04:37:13,240 --> 04:37:13,920 THE UNKNOWN AND WHAT IS GOING TO 6921 04:37:13,920 --> 04:37:14,360 HAPPEN. 6922 04:37:14,360 --> 04:37:15,400 AND I THINK THAT IS SOMETHING 6923 04:37:15,400 --> 04:37:16,720 THAT WE ALL GO THROUGH. 6924 04:37:16,720 --> 04:37:18,360 BUT YOU HAVE TO MOVE FORWARD 6925 04:37:18,360 --> 04:37:19,640 BECAUSE YOU NEED TO CONTINUE 6926 04:37:19,640 --> 04:37:21,960 WITH YOUR LIFE. 6927 04:37:21,960 --> 04:37:24,080 AND THEN, IF IT IS NOT YOU, THE 6928 04:37:24,080 --> 04:37:26,480 PERSON THAT HAS THE RARE DISEASE 6929 04:37:26,480 --> 04:37:27,160 OR THE PERSON YOU LOVE, YOU ALSO 6930 04:37:27,160 --> 04:37:28,760 HAVE TO CONTINUE WITH YOUR LIFE. 6931 04:37:28,760 --> 04:37:29,520 HOW ARE YOU GOING TO DO THAT? 6932 04:37:29,520 --> 04:37:31,120 YOU KNOW THE DISEASE ISN'T GOING 6933 04:37:31,120 --> 04:37:31,520 TO GO AWAY. 6934 04:37:31,520 --> 04:37:32,440 IT'S SOMETHING YOU ARE GOING TO 6935 04:37:32,440 --> 04:37:33,960 HAVE FOR THE REST OF YOUR LIFE. 6936 04:37:33,960 --> 04:37:34,960 SO YOU HAVE TO DEAL WITH IT. 6937 04:37:34,960 --> 04:37:38,560 AND DEAL WITH THE BEST YOU CAN 6938 04:37:38,560 --> 04:37:39,120 FOR YOU, YOUR FAMILY AND THE 6939 04:37:39,120 --> 04:37:42,120 PEOPLE THAT LOVE YOU. 6940 04:37:42,120 --> 04:37:44,480 SO IN MY JOURNEY, I FOUND THREE 6941 04:37:44,480 --> 04:37:45,680 MAGIC WORDS. 6942 04:37:45,680 --> 04:37:47,760 THOSE WORDS ARE HOPE, GRATITUDE 6943 04:37:47,760 --> 04:37:50,280 AND PURPOSE. 6944 04:37:50,280 --> 04:37:51,560 AND I THINK THAT THIS IS VERY 6945 04:37:51,560 --> 04:37:54,000 IMPORTANT ON A DAILY BASIS 6946 04:37:54,000 --> 04:37:59,480 BECAUSE WHEN YOU HAVE A RARE 6947 04:37:59,480 --> 04:38:02,160 DISEASE, YOU'RE GRIEVING 6948 04:38:02,160 --> 04:38:02,800 STAGEOOSE - YOU GRIEF AND YOU'RE 6949 04:38:02,800 --> 04:38:03,000 DYING. 6950 04:38:03,000 --> 04:38:04,600 THIS HAPPENS ALL THE TIME. 6951 04:38:04,600 --> 04:38:06,080 ALWAYS. 6952 04:38:06,080 --> 04:38:06,720 AND THEN YOU GET VERY SICK AND 6953 04:38:06,720 --> 04:38:08,560 HOSPITALIZED AND THEN YOU GO 6954 04:38:08,560 --> 04:38:08,760 AGAIN. 6955 04:38:08,760 --> 04:38:10,280 SO IT'S LIKE SOMETHING YOU HAVE 6956 04:38:10,280 --> 04:38:11,920 TO THINK ABOUT LIKE ALMOST ON A 6957 04:38:11,920 --> 04:38:13,680 DAILY BASIS TO BE ABLE TO MOVE 6958 04:38:13,680 --> 04:38:15,000 WITH YOUR LIFE. 6959 04:38:15,000 --> 04:38:17,040 TODAY, WE ARE GOING TO TALK 6960 04:38:17,040 --> 04:38:17,840 ABOUT HOPE. 6961 04:38:17,840 --> 04:38:21,640 AND WHAT IS HOPE? 6962 04:38:21,640 --> 04:38:23,120 HOPE IS THE BELIEF THAT THE 6963 04:38:23,120 --> 04:38:24,840 FUTURE WILL BE BETTER BECAUSE WE 6964 04:38:24,840 --> 04:38:30,960 HAVE THE POWER TO MAKE IT 6965 04:38:30,960 --> 04:38:32,480 HAPPEN -- THE POWER WENT AWAY! 6966 04:38:32,480 --> 04:38:37,080 SO WE HAVE THE POWER TO MAKE IT 6967 04:38:37,080 --> 04:38:37,400 HAPPEN, RIGHT? 6968 04:38:37,400 --> 04:38:39,000 WE HAVE THE POWER. 6969 04:38:39,000 --> 04:38:41,560 SO THAT IS THE WHOLE THING OF 6970 04:38:41,560 --> 04:38:42,200 HOPE THAT YOU HAVE THE POWER AND 6971 04:38:42,200 --> 04:38:43,680 YOU CAN MAKE IT HAPPEN. 6972 04:38:43,680 --> 04:38:45,920 SO THIS PICTURE IS VERY 6973 04:38:45,920 --> 04:38:46,840 IMPORTANT TO ME. 6974 04:38:46,840 --> 04:38:49,960 THIS TALK IS VERY IMPORTANT TO 6975 04:38:49,960 --> 04:38:51,560 ME OVERALL BECAUSE LIKE A COUPLE 6976 04:38:51,560 --> 04:38:55,080 OF WEEKS AGO, I WAS LOOKING AT 6977 04:38:55,080 --> 04:38:58,440 ONE OF THE PAGES AND ONE OF THE 6978 04:38:58,440 --> 04:38:59,040 BEIGES -- PATIENTS WAS VERY, 6979 04:38:59,040 --> 04:38:59,320 VERY SICK. 6980 04:38:59,320 --> 04:39:01,440 SHE POSTED A PICTURE WITH HER 6981 04:39:01,440 --> 04:39:02,440 FIST LIKE THIS. 6982 04:39:02,440 --> 04:39:07,040 AND THAT, TO ME, DEMONSTRATED 6983 04:39:07,040 --> 04:39:08,520 STRENGTH. 6984 04:39:08,520 --> 04:39:08,760 I'M POWER! 6985 04:39:08,760 --> 04:39:09,320 SO I ASK MY FRIENDS TO SEND 6986 04:39:09,320 --> 04:39:10,920 PICTURES WITH THE FIST AND THEN 6987 04:39:10,920 --> 04:39:14,000 WE ALL HAVE THE POWER. 6988 04:39:14,000 --> 04:39:19,760 SO MY POWER, WHAT I DID TO -- 6989 04:39:19,760 --> 04:39:21,600 WHEN I FINISHED MY CARE IN 6990 04:39:21,600 --> 04:39:23,600 INFECTIOUS DISEASES FELLOWSHIP I 6991 04:39:23,600 --> 04:39:24,600 DIDN'T KNOW WHAT TO DO. 6992 04:39:24,600 --> 04:39:26,120 I GOT DIAGNOSED AND I'M LIKE WE 6993 04:39:26,120 --> 04:39:28,280 HAVE TO FIGURE IT OUT. 6994 04:39:28,280 --> 04:39:28,840 I REALIZED I NEEDED TO DO 6995 04:39:28,840 --> 04:39:29,680 SOMETHING ABOUT IT. 6996 04:39:29,680 --> 04:39:34,760 AND THE BEST WAY FOR ME WITH MY 6997 04:39:34,760 --> 04:39:38,280 BACKGROUND TO HELP WAS TO HELP 6998 04:39:38,280 --> 04:39:40,240 PATIENTS WITH RELAPSING 6999 04:39:40,240 --> 04:39:42,200 POLYCHONDRITIS AND DO RESEARCH. 7000 04:39:42,200 --> 04:39:43,760 HOW IS IT I'M GOING TO DO THAT? 7001 04:39:43,760 --> 04:39:45,320 I'M NOT CRITICAL CARE INFECTIOUS 7002 04:39:45,320 --> 04:39:46,080 DISEASE PEOPLE. 7003 04:39:46,080 --> 04:39:48,200 I DON'T KNOW ANYTHING ABOUT 7004 04:39:48,200 --> 04:39:51,240 JOINTS OR ANYTHING LIKE THAT. 7005 04:39:51,240 --> 04:39:52,720 SO I REALIZED THAT I DID NOT 7006 04:39:52,720 --> 04:39:54,960 HAVE THE KNOWLEDGE TO DO THIS. 7007 04:39:54,960 --> 04:39:58,200 BUT THEN I TOOK WITH THESE 7008 04:39:58,200 --> 04:40:00,360 WONDERFUL PEOPLE THAT WERE 7009 04:40:00,360 --> 04:40:01,120 EXTREMELY SUPPORTIVE AND 7010 04:40:01,120 --> 04:40:01,960 EMPOWERING AND THEY WERE LIKE, 7011 04:40:01,960 --> 04:40:04,480 YOU KNOW YOU CAN DO IT. 7012 04:40:04,480 --> 04:40:04,880 LET'S DO IT. 7013 04:40:04,880 --> 04:40:07,000 AND I WAS OKAY, GO AHEAD AND DO 7014 04:40:07,000 --> 04:40:07,160 IT. 7015 04:40:07,160 --> 04:40:08,880 AND THEN I WAS EXTREMELY LUCKY 7016 04:40:08,880 --> 04:40:11,000 TO BE ABLE TO JOIN THE NATIONAL 7017 04:40:11,000 --> 04:40:14,480 INSTITUTE OF ARTHRITIS AND 7018 04:40:14,480 --> 04:40:15,520 MUSCULOSKELETAL AND SKIN 7019 04:40:15,520 --> 04:40:17,080 DISEASES AND FEEL EXTREMELY 7020 04:40:17,080 --> 04:40:19,000 WELCOME IN THAT INSTITUTE. 7021 04:40:19,000 --> 04:40:22,560 AND I DECIDED 7022 04:40:22,560 --> 04:40:22,920 [ INAUDIBLE ] 7023 04:40:22,920 --> 04:40:24,560 SO IF YOU ASK ME WHICH TYPE OF 7024 04:40:24,560 --> 04:40:28,000 DOCTOR I AM, GYM GOING TO 7025 04:40:28,000 --> 04:40:30,880 ANSWER, IT'S VERY CONFUSING. 7026 04:40:30,880 --> 04:40:33,240 -- THROUGH MY JOURNEY I MET 7027 04:40:33,240 --> 04:40:36,240 AMAZING PEOPLE THAT THE PERSON 7028 04:40:36,240 --> 04:40:37,760 THAT HAS HELPED A LOT WITH THIS 7029 04:40:37,760 --> 04:40:39,200 LIKE THE MAIN CHARACTER THAT 7030 04:40:39,200 --> 04:40:44,240 MADE ALL OF THIS HAPPEN IS MY 7031 04:40:44,240 --> 04:40:44,480 MENTOR. 7032 04:40:44,480 --> 04:40:47,640 SO DURING MY FELLOWSHIP UNDER 7033 04:40:47,640 --> 04:40:50,400 HIS VASCULAR -- WE WERE ABLE TO 7034 04:40:50,400 --> 04:40:51,520 CREATE THE FIRST COHORT OF 7035 04:40:51,520 --> 04:40:55,080 PATIENTS WITH RELAPSING 7036 04:40:55,080 --> 04:40:56,680 POLYCHONDRITIS. 7037 04:40:56,680 --> 04:40:58,760 SO NOW WE HAVE PROUDNESS. 7038 04:40:58,760 --> 04:41:00,800 THE FIRST PERSPECTIVE COHORT OF 7039 04:41:00,800 --> 04:41:04,240 PATIENTS WITH RELAPSING 7040 04:41:04,240 --> 04:41:04,680 POLYCHONDRITIS. 7041 04:41:04,680 --> 04:41:07,600 THANK YOU. 7042 04:41:07,600 --> 04:41:09,720 AND THEN THIS IS THE MAIN GROUP 7043 04:41:09,720 --> 04:41:11,520 BUT OUR COHORT IS 7044 04:41:11,520 --> 04:41:16,160 MULTIDISCIPLINARY SO WE HAVE A 7045 04:41:16,160 --> 04:41:17,040 LOT OF DIFFERENT SPECIALTIES 7046 04:41:17,040 --> 04:41:17,680 WITH OUR PATIENTS BECAUSE THIS 7047 04:41:17,680 --> 04:41:18,840 IS A SYSTEMIC DISEASE. 7048 04:41:18,840 --> 04:41:20,280 AND THEN WE REALIZED, AND I 7049 04:41:20,280 --> 04:41:24,680 THINK THIS IS VERY IMPORTANT 7050 04:41:24,680 --> 04:41:26,320 POINT, THAT WE NEED TO WORK AS A 7051 04:41:26,320 --> 04:41:26,520 TEAM. 7052 04:41:26,520 --> 04:41:29,120 YOU NEED TO WORK AS A TEAM. 7053 04:41:29,120 --> 04:41:31,400 SO IT'S -- YOU HAVE TO WORK WITH 7054 04:41:31,400 --> 04:41:32,440 OTHER PEOPLE. 7055 04:41:32,440 --> 04:41:32,800 INTERNATIONALLY. 7056 04:41:32,800 --> 04:41:34,360 BECAUSE THIS IS A RARE DISEASE. 7057 04:41:34,360 --> 04:41:36,280 SO WE WERE ABLE TO CREATE THE 7058 04:41:36,280 --> 04:41:39,160 INTERNATIONAL RELAPSING 7059 04:41:39,160 --> 04:41:40,880 POLYCHONDRITIS RESEARCH NETWORK 7060 04:41:40,880 --> 04:41:45,480 AND THEN WE ALSO WITH A LITTLE 7061 04:41:45,480 --> 04:41:47,280 HELP, WHERE WE HAVE DIFFERENT 7062 04:41:47,280 --> 04:41:48,280 MEETINGS TALKING ABOUT 7063 04:41:48,280 --> 04:41:49,000 PARTICULAR PROJECTS THAT ARE 7064 04:41:49,000 --> 04:41:52,800 GOING TO HELP US WITH ADVANCING 7065 04:41:52,800 --> 04:41:54,680 THE KNOWLEDGE AND RELAPSING 7066 04:41:54,680 --> 04:41:56,360 POLYCHONDRITIS AND THEN 7067 04:41:56,360 --> 04:41:58,520 COLLECTING DATA FROM UPENN AND 7068 04:41:58,520 --> 04:42:02,800 MAYO CLINIC. 7069 04:42:02,800 --> 04:42:05,240 AND THIS IS FIRST FROM OUR 7070 04:42:05,240 --> 04:42:05,960 COHORT. 7071 04:42:05,960 --> 04:42:08,120 BUT WE BASICALLY IDENTIFIED 7072 04:42:08,120 --> 04:42:09,400 THREE DIFFERENT TYPES OF 7073 04:42:09,400 --> 04:42:11,440 RELAPSING POLYCHONDRITIS BASED 7074 04:42:11,440 --> 04:42:13,040 ON THE CLINICAL MANIFESTATIONS 7075 04:42:13,040 --> 04:42:14,680 AND ALL OF THEM WERE ON THE TYPE 7076 04:42:14,680 --> 04:42:17,880 THREE, THE ONE THAT HAS THE MORE 7077 04:42:17,880 --> 04:42:20,360 DIFFERENCES BETWEEN THE CLINICAL 7078 04:42:20,360 --> 04:42:21,000 MANIFESTATIONS. 7079 04:42:21,000 --> 04:42:25,360 SO THIS IS WHAT HAPPENED. 7080 04:42:25,360 --> 04:42:28,160 WE IDENTIFIED A NEW DISEASE, A 7081 04:42:28,160 --> 04:42:30,640 NEW DISEASE CALLED VEXAS, WHICH 7082 04:42:30,640 --> 04:42:31,000 IS AMAZING. 7083 04:42:31,000 --> 04:42:36,400 LET ME TELL BUT THIS. 7084 04:42:36,400 --> 04:42:39,760 SO THIS DISEASE -- IN 200020 AND 7085 04:42:39,760 --> 04:42:41,000 THE PERSON THAT LED THE 7086 04:42:41,000 --> 04:42:42,600 MOLECULAR DISCOVERY OF THIS WAS 7087 04:42:42,600 --> 04:42:46,600 DAVID BECK AT NYU BUT HE WAS 7088 04:42:46,600 --> 04:42:56,280 WORKING WITH AT NHGRI AND 7089 04:42:56,280 --> 04:42:56,640 [ INAUDIBLE ] 7090 04:42:56,640 --> 04:42:58,680 BASICALLY, WE DISCOVERED 7091 04:42:58,680 --> 04:43:00,240 RELAPSING POLYCHONDRITIS IN 80% 7092 04:43:00,240 --> 04:43:02,720 OF THE PATIENTS. 7093 04:43:02,720 --> 04:43:07,240 HERE THIS IS ALL THE CLINICAL 7094 04:43:07,240 --> 04:43:07,600 MANIFESTATIONS. 7095 04:43:07,600 --> 04:43:10,760 SO BASICALLY WITH VEXAS WE WERE 7096 04:43:10,760 --> 04:43:13,480 ABLE TO IDENTIFY GENETIC CAUSE 7097 04:43:13,480 --> 04:43:15,480 FOR RELAPSING POLYCHONDRITIS, 7098 04:43:15,480 --> 04:43:18,760 WHICH IS PRETTY AMAZING 7099 04:43:18,760 --> 04:43:19,120 [ INAUDIBLE ] 7100 04:43:19,120 --> 04:43:23,640 SO WHAT ARE THE IMPLICATIONS OF 7101 04:43:23,640 --> 04:43:29,440 VEXAS? 7102 04:43:29,440 --> 04:43:32,800 FINDING MUTATIONS THAT COULD BE 7103 04:43:32,800 --> 04:43:34,080 INFLAMMATORY DISEASES IN THE 7104 04:43:34,080 --> 04:43:35,200 ADULT POPULATIONS AND MORE 7105 04:43:35,200 --> 04:43:39,600 RECENTLY, WE FOUND THAT ONE IN 7106 04:43:39,600 --> 04:43:45,960 1000 MEN HAVE VEXAS. 7107 04:43:45,960 --> 04:43:48,720 AND SINCE THEN THERE HAS BEEN A 7108 04:43:48,720 --> 04:43:51,520 LOT OF INTERESTS INTERNATIONALLY 7109 04:43:51,520 --> 04:43:52,200 AND WORKING ACTIVELY IN THESE 7110 04:43:52,200 --> 04:43:56,240 PATIENCE AND THEN WE HAVE BEEN 7111 04:43:56,240 --> 04:43:58,960 HERE AT NIH AND THEN THIS IS 7112 04:43:58,960 --> 04:44:00,040 VERY IMPORTANT. 7113 04:44:00,040 --> 04:44:03,000 WE HAVE CLINICAL TRIAL AND THIS 7114 04:44:03,000 --> 04:44:07,360 IS THAT TRIAL THAT COULD BE 7115 04:44:07,360 --> 04:44:08,000 CURATIVE FOR PATIENTS WITH VEXAS 7116 04:44:08,000 --> 04:44:16,560 AND THE THIS IS LED BY -- SO I'M 7117 04:44:16,560 --> 04:44:20,680 JUST GOING TO GO BACK AGAIN TO 7118 04:44:20,680 --> 04:44:25,000 THE DEFINITION OF HOPE. 7119 04:44:25,000 --> 04:44:28,960 THERE IS WAY MORE WAYS TO HAVE 7120 04:44:28,960 --> 04:44:29,240 THAT POWER. 7121 04:44:29,240 --> 04:44:30,160 THERE ARE OTHER WAYS AND I'M 7122 04:44:30,160 --> 04:44:32,600 GOING TO LET MY FRIEND TALK 7123 04:44:32,600 --> 04:44:34,280 ABOUT THE OTHER TOOLS THAT YOU 7124 04:44:34,280 --> 04:44:36,640 CAN USE FOR POWER. 7125 04:44:36,640 --> 04:44:42,720 >> THANK YOU, MARCIE. 7126 04:44:42,720 --> 04:44:43,720 SO AS YOU CAN TELL, MARCIE IS 7127 04:44:43,720 --> 04:44:46,240 ONE OF THE MOST INSPIRING PEOPLE 7128 04:44:46,240 --> 04:44:47,560 THAT I HAVE HAD THE GOOD FORTUNE 7129 04:44:47,560 --> 04:44:48,520 TO MEET. 7130 04:44:48,520 --> 04:44:52,080 AND I THINK SHE IS JUST AN 7131 04:44:52,080 --> 04:44:54,560 EXCELLENT EXAMPLE OF NIH. 7132 04:44:54,560 --> 04:44:57,520 SO WHEN YOU GET A DIAGNOSIS, 7133 04:44:57,520 --> 04:44:58,560 FAMILY DIAGNOSIS WITH THE RARE 7134 04:44:58,560 --> 04:45:00,640 DISEASE, IT IS A SHOCK JUST AS 7135 04:45:00,640 --> 04:45:01,240 MARCIE HAD SHOWN. 7136 04:45:01,240 --> 04:45:02,840 SO I GOT TO THE SAME PLACE WITH 7137 04:45:02,840 --> 04:45:03,920 MARCIE A SLIGHTLY DIFFERENT 7138 04:45:03,920 --> 04:45:05,000 ROUTE. 7139 04:45:05,000 --> 04:45:08,320 MY SISTER WAS DIAGNOSED. 7140 04:45:08,320 --> 04:45:09,600 SHE WAS A RETIRED NURSE AND WE 7141 04:45:09,600 --> 04:45:11,480 COULDN'T REALLY FIND ANY 7142 04:45:11,480 --> 04:45:12,800 RESEARCH THAT WAS MORE CURRENT 7143 04:45:12,800 --> 04:45:14,680 THAN THE 1920s. 7144 04:45:14,680 --> 04:45:17,240 AND SO, WE REALIZED WE HAVE TO 7145 04:45:17,240 --> 04:45:18,040 DO SOMETHING. 7146 04:45:18,040 --> 04:45:20,680 JUST LIKE THE PANELISTS BEFORE 7147 04:45:20,680 --> 04:45:21,920 US THAT SAID IT'S VERY DIFFICULT 7148 04:45:21,920 --> 04:45:22,600 AND COMPLICATED. 7149 04:45:22,600 --> 04:45:24,000 IT IS VERY DIFFICULT AND 7150 04:45:24,000 --> 04:45:28,360 COMPLICATED AND THERE IS NO EASY 7151 04:45:28,360 --> 04:45:28,600 SOLUTION. 7152 04:45:28,600 --> 04:45:32,000 BUT TO DO NOTHING IS NOT 7153 04:45:32,000 --> 04:45:32,280 ACCEPTABLE. 7154 04:45:32,280 --> 04:45:32,880 SO IT'S ONE STEP AT A TIME. 7155 04:45:32,880 --> 04:45:34,680 LIKE CLIMBING A MOUNTAIN, YOU 7156 04:45:34,680 --> 04:45:35,720 HAVE TO DO IT ONE STEP AT A 7157 04:45:35,720 --> 04:45:36,240 TIME. 7158 04:45:36,240 --> 04:45:39,120 WE HAD THE GOOD FORTUNE TO MEET 7159 04:45:39,120 --> 04:45:43,920 MARCIE AND TO MEET HER TEAM. 7160 04:45:43,920 --> 04:45:45,560 SO WHEN WE STARTED, I GOT TO 7161 04:45:45,560 --> 04:45:48,320 HOPE STARTING WITH PURPOSE WHEN 7162 04:45:48,320 --> 04:45:49,000 MY SISTER WAS DIAGNOSED. 7163 04:45:49,000 --> 04:45:50,360 I SAID BEFORE I DIE, I WANT TO 7164 04:45:50,360 --> 04:45:52,360 DO EVERYTHING IN MY POWER TO TRY 7165 04:45:52,360 --> 04:45:54,000 TO GET SOME RESEARCH DONE. 7166 04:45:54,000 --> 04:45:56,000 OPTIMISTICALLY, I THOUGHT I HAD 7167 04:45:56,000 --> 04:45:56,960 ABOUT A 5-10% CHANCE. 7168 04:45:56,960 --> 04:46:00,680 THEN I MET MARCIE, DR. GRAYSON 7169 04:46:00,680 --> 04:46:03,600 AND THE INCREDIBLE STAFF HERE. 7170 04:46:03,600 --> 04:46:04,560 AND THAT GAVE US HOPE. 7171 04:46:04,560 --> 04:46:08,600 IF YOU WOULD HAVE TOLD ME FIRST 7172 04:46:08,600 --> 04:46:11,360 TIME I WAS HERE WAS 2016. 7173 04:46:11,360 --> 04:46:12,640 SO YOU ARE ALREADY IN THE RIGHT 7174 04:46:12,640 --> 04:46:12,840 SPOT. 7175 04:46:12,840 --> 04:46:15,600 AND THE TALENT HERE IS 7176 04:46:15,600 --> 04:46:16,600 EXTRAORDINARY, NOT JUST BETWEEN 7177 04:46:16,600 --> 04:46:17,880 THESE WALLS BUT IN THE 7178 04:46:17,880 --> 04:46:18,360 COLLABORATION. 7179 04:46:18,360 --> 04:46:21,680 SO WHEN WE GOT STARTED, WE FOUND 7180 04:46:21,680 --> 04:46:24,320 AMAZING TALENT HERE FROM 7181 04:46:24,320 --> 04:46:24,640 TOP-TO-BOTTOM. 7182 04:46:24,640 --> 04:46:25,720 WE ALSO FIGURED OUT WHAT DO WE 7183 04:46:25,720 --> 04:46:27,080 DO? 7184 04:46:27,080 --> 04:46:27,760 HOW DO WE TRY THIS? 7185 04:46:27,760 --> 04:46:29,560 HOW DO WE DO TRIAL AND ERROR? 7186 04:46:29,560 --> 04:46:31,400 WE FOUND FRIENDS AND PATIENTS OF 7187 04:46:31,400 --> 04:46:31,560 NIH. 7188 04:46:31,560 --> 04:46:33,560 THEY HELPED US SET UP THE TRAVEL 7189 04:46:33,560 --> 04:46:34,560 PROGRAM TO HELP GET PATIENTS 7190 04:46:34,560 --> 04:46:37,280 HERE TO DO THE RESEARCH TO GET 7191 04:46:37,280 --> 04:46:38,200 THAT LARGE COHORT. 7192 04:46:38,200 --> 04:46:41,440 AND I JUST REMEMBER WHEN DR. 7193 04:46:41,440 --> 04:46:43,200 DR. GRAYSON AND DR. FERRARI TOLD 7194 04:46:43,200 --> 04:46:44,960 US THEY HAD 100 PATIENTS. 7195 04:46:44,960 --> 04:46:46,840 IT SEEMED LIKE A MILLION. 7196 04:46:46,840 --> 04:46:47,240 WHICH WAS GREAT. 7197 04:46:47,240 --> 04:46:48,160 THAT WILL WASN'T THAT MANY YEARS 7198 04:46:48,160 --> 04:46:48,480 AGO. 7199 04:46:48,480 --> 04:46:52,480 SO YOU'RE IN THE RIGHT SPOT. 7200 04:46:52,480 --> 04:46:53,080 AND I THINK THAT EVERYBODY HAS 7201 04:46:53,080 --> 04:46:55,680 AN OPPORTUNITY TO DO SOMETHING 7202 04:46:55,680 --> 04:46:56,360 THAT COULD BE A SOCIAL MEDIA 7203 04:46:56,360 --> 04:46:57,080 POST. 7204 04:46:57,080 --> 04:46:59,200 IT COULD BE A FUNDRAISER, A 7205 04:46:59,200 --> 04:47:01,680 BIRTHDAY FUNDRAISER, WHATEVER IT 7206 04:47:01,680 --> 04:47:01,840 IS. 7207 04:47:01,840 --> 04:47:03,880 WE ALL HAVE THE ABILITY TO DO 7208 04:47:03,880 --> 04:47:04,160 SOMETHING. 7209 04:47:04,160 --> 04:47:05,160 AND WOULD JUST ENCOURAGE YOU, 7210 04:47:05,160 --> 04:47:06,800 HAVE YOU ALREADY TAKEN A BIG 7211 04:47:06,800 --> 04:47:07,760 STEP. 7212 04:47:07,760 --> 04:47:08,240 YOU'RE HERE. 7213 04:47:08,240 --> 04:47:08,640 YOU'RE HERE. 7214 04:47:08,640 --> 04:47:09,520 YOU'RE IN THE RIGHT SPOT. 7215 04:47:09,520 --> 04:47:16,120 AND SO, WE WENT AND THIS -- THEY 7216 04:47:16,120 --> 04:47:17,240 DID WAY MORE THAN THAT. 7217 04:47:17,240 --> 04:47:18,880 THEY INTRODUCED US TO PEOPLE ALL 7218 04:47:18,880 --> 04:47:19,240 OVER THE WORLD. 7219 04:47:19,240 --> 04:47:20,680 THEY INTRODUCED US TO THE PEOPLE 7220 04:47:20,680 --> 04:47:22,560 IN THE VASCULITIS FOUNDATION, 7221 04:47:22,560 --> 04:47:24,440 THEY INTRODUCED US TO PEOPLE WHO 7222 04:47:24,440 --> 04:47:27,080 HELPED US DECIDE HOW DO WE 7223 04:47:27,080 --> 04:47:27,600 RECONFIGURE AND SET UP 7224 04:47:27,600 --> 04:47:27,920 FOUNDATIONS? 7225 04:47:27,920 --> 04:47:28,800 WHAT IS OUR ROLE? 7226 04:47:28,800 --> 04:47:31,440 WE HAVE THE RESEARCHER'S ROLE. 7227 04:47:31,440 --> 04:47:32,320 WE HAVE THE PATIENT ROLE AND 7228 04:47:32,320 --> 04:47:32,720 FAMILY ROLE. 7229 04:47:32,720 --> 04:47:36,240 WHAT DO WE DO TO FACILITATE IT? 7230 04:47:36,240 --> 04:47:37,200 THIS IS AN EXCELLENT PLACE 7231 04:47:37,200 --> 04:47:40,680 BECAUSE AT NIH THEY TURN 7232 04:47:40,680 --> 04:47:41,800 DISCOVERIES INTO HEALTH. 7233 04:47:41,800 --> 04:47:42,880 AND THAT IS A HECK OF A MISSION. 7234 04:47:42,880 --> 04:47:44,640 IT'S A LONG, DIFFICULT MISSION 7235 04:47:44,640 --> 04:47:46,440 AND PEOPLE ARE SUFFERING. 7236 04:47:46,440 --> 04:47:48,520 BUT, FROM THE TIME THAT WE FIRST 7237 04:47:48,520 --> 04:47:49,120 STEPPED IN HERE TO WHAT IS 7238 04:47:49,120 --> 04:47:51,280 REALLY HAPPENING, THEY HAVE 7239 04:47:51,280 --> 04:47:51,680 PROVEN THEMSELVES. 7240 04:47:51,680 --> 04:47:53,960 WE HAVE A LOT OF WOOD TO CHOP. 7241 04:47:53,960 --> 04:47:57,920 WE HAVE A LOT OF STUFF TO DO. 7242 04:47:57,920 --> 04:47:58,680 BUT THAT WAS LESS THAN THREE 7243 04:47:58,680 --> 04:47:58,960 YEARS AGO. 7244 04:47:58,960 --> 04:48:00,920 THEY DISCOVERED A BRAND NEW 7245 04:48:00,920 --> 04:48:01,120 DISEASE. 7246 04:48:01,120 --> 04:48:02,240 THEY ARE ALREADY DOING BONE 7247 04:48:02,240 --> 04:48:03,880 MARROW TRANSPLANTS THAT ARE 7248 04:48:03,880 --> 04:48:07,680 SAVING LIVES. 7249 04:48:07,680 --> 04:48:08,480 SO, I STARTED WITH PURPOSE, THAT 7250 04:48:08,480 --> 04:48:11,320 WAS A FAMILY PERSONAL 7251 04:48:11,320 --> 04:48:12,200 COMMITMENT, BUT AS SOON AS I MET 7252 04:48:12,200 --> 04:48:14,400 MARCIE AND SHE SAID, WHERE THERE 7253 04:48:14,400 --> 04:48:15,600 IS RESEARCH THERE IS HOPE. 7254 04:48:15,600 --> 04:48:16,920 THAT IS REALLY THE TRUTH. 7255 04:48:16,920 --> 04:48:18,520 SO YOU'RE IN THE RIGHT SPOT 7256 04:48:18,520 --> 04:48:18,720 HERE. 7257 04:48:18,720 --> 04:48:19,600 I'M NOT A RESEARCHER. 7258 04:48:19,600 --> 04:48:22,160 YOU MAY NOT BE A RESEARCHER, BUT 7259 04:48:22,160 --> 04:48:22,840 THIS IS WHERE THE TALENT IS. 7260 04:48:22,840 --> 04:48:24,440 SO WITH THE HELP OF NIH, WE WERE 7261 04:48:24,440 --> 04:48:29,640 ABLE TO SET UP THE CENTER AT THE 7262 04:48:29,640 --> 04:48:31,400 UNIVERSITY OF PENNSYLVANIA. 7263 04:48:31,400 --> 04:48:34,840 WE SET UP DIFFERENT BIOBANKS. 7264 04:48:34,840 --> 04:48:35,320 AND WE WERE ABLE TO DO A 7265 04:48:35,320 --> 04:48:37,320 TREMENDOUS NUMBER OF OTHER 7266 04:48:37,320 --> 04:48:37,680 THINGS. 7267 04:48:37,680 --> 04:48:42,880 SO INDICATIVE OF THIS PLACE AND 7268 04:48:42,880 --> 04:48:45,960 DR. FERARA, SHE IS GRACIOUSLY 7269 04:48:45,960 --> 04:48:47,000 SHARING THE STAGE WITH US. 7270 04:48:47,000 --> 04:48:48,960 SHE TAKES PATIENTS AND FAMILY 7271 04:48:48,960 --> 04:48:49,360 MEMBERS WITH HER. 7272 04:48:49,360 --> 04:48:52,280 SHE IS JUST ONE EXCELLENT 7273 04:48:52,280 --> 04:48:52,520 EXAMPLE. 7274 04:48:52,520 --> 04:48:55,520 WE HAVE SEEN THE SAME THING WITH 7275 04:48:55,520 --> 04:48:56,400 DR. GRAYSON, DR. QUINN, GOOD 7276 04:48:56,400 --> 04:48:56,840 SPEED. 7277 04:48:56,840 --> 04:48:58,560 THIS IS AN EXTRAORDINARY PLACE. 7278 04:48:58,560 --> 04:49:00,280 SO FOR THOSE OF YOU WHO ARE 7279 04:49:00,280 --> 04:49:01,560 HAVING A DIFFICULT TIME, I 7280 04:49:01,560 --> 04:49:02,640 UNDERSTAND IT. 7281 04:49:02,640 --> 04:49:04,480 BUT THERE IS HOPE AND WE BELIEVE 7282 04:49:04,480 --> 04:49:06,480 THAT THAT HOPE IS AROUND 7283 04:49:06,480 --> 04:49:06,720 PURPOSE. 7284 04:49:06,720 --> 04:49:08,840 SO I WANT TO THANK YOU FOR THE 7285 04:49:08,840 --> 04:49:09,120 OPPORTUNITY. 7286 04:49:09,120 --> 04:49:10,760 I WANT TO GIVE YOU THE 7287 04:49:10,760 --> 04:49:11,120 ENCOURAGEMENT. 7288 04:49:11,120 --> 04:49:14,000 WHAT WE DID ON THE RP SIDE, WE 7289 04:49:14,000 --> 04:49:16,600 BELIEVE IS APPLICABLE TO ANY 7290 04:49:16,600 --> 04:49:17,360 RARE DISEASE. 7291 04:49:17,360 --> 04:49:17,840 YOU HAVE TO BE NIMBLE. 7292 04:49:17,840 --> 04:49:19,360 YOU HAVE TO TRY. 7293 04:49:19,360 --> 04:49:22,480 AND I ALSO WANT TO DO -- I JUST 7294 04:49:22,480 --> 04:49:24,320 WANT TO THANK MY FELLOW BOARD 7295 04:49:24,320 --> 04:49:26,120 MEMBERS, MY SISTER, NANCY, THE 7296 04:49:26,120 --> 04:49:28,760 PRESIDENT OF THE FOUNDATION, 7297 04:49:28,760 --> 04:49:30,040 DAVID AND OUR NEW MEMBER OF THE 7298 04:49:30,040 --> 04:49:32,720 BOARD, WHO IS SUCCESSFUL AND A 7299 04:49:32,720 --> 04:49:34,840 GREAT ADDITION. 7300 04:49:34,840 --> 04:49:36,640 FRAN SCREENY AS WELL AS I LIKE 7301 04:49:36,640 --> 04:49:38,400 TO THANK MY BROTHER-IN-LAW WHO 7302 04:49:38,400 --> 04:49:39,720 WHEN WE PUT PROPOSALS FORWARD 7303 04:49:39,720 --> 04:49:42,600 AND GOT REJECTED, HE SAID, WHY 7304 04:49:42,600 --> 04:49:44,120 DON'T WE DO IT ANYWAY? 7305 04:49:44,120 --> 04:49:45,800 I THOUGHT WHAT A MAGICAL WAY TO 7306 04:49:45,800 --> 04:49:47,240 DO IT. 7307 04:49:47,240 --> 04:49:50,960 IT REMINDS ME OF DR. FER ADDA 7308 04:49:50,960 --> 04:49:51,240 AND GRAYSON. 7309 04:49:51,240 --> 04:49:53,120 WHERE THERE IS RESEARCH THERE IS 7310 04:49:53,120 --> 04:49:53,960 HOPE. 7311 04:49:53,960 --> 04:49:55,280 I DON'T KNOW OF ANY PLACE THEY 7312 04:49:55,280 --> 04:49:56,680 HAVE MORE RESEARCH THAN HERE. 7313 04:49:56,680 --> 04:50:01,480 THANK YOU. 7314 04:50:01,480 --> 04:50:04,000 >> WE ARE ALMOST DONE. 7315 04:50:04,000 --> 04:50:07,040 I WANTED TO JUST SHOW YOU THE 7316 04:50:07,040 --> 04:50:08,440 LIST OF ACCOMPLISHMENTS FROM OUR 7317 04:50:08,440 --> 04:50:10,680 TEAM AND COLLABORATION FROM 2017 7318 04:50:10,680 --> 04:50:12,080 TO 2023. 7319 04:50:12,080 --> 04:50:15,920 SO WE DID THE FIRST PERSPECTIVE 7320 04:50:15,920 --> 04:50:16,680 COHORT OF PATIENTS AND THEN WE 7321 04:50:16,680 --> 04:50:21,680 HAVE SEEN MORE THAN 100 7322 04:50:21,680 --> 04:50:21,960 PATIENTS. 7323 04:50:21,960 --> 04:50:26,440 WE ALSO CREATED THE PROGRAM THAT 7324 04:50:26,440 --> 04:50:30,320 HAS BEEN FROM THE VASCULITIS 7325 04:50:30,320 --> 04:50:32,520 FOUNDATION NETWORK AND THE 7326 04:50:32,520 --> 04:50:32,880 FOUNDATION. 7327 04:50:32,880 --> 04:50:35,920 WE CREATED THE INTERNATIONAL 7328 04:50:35,920 --> 04:50:37,520 RESEARCH NETWORK WHICH WE ARE 7329 04:50:37,520 --> 04:50:38,840 WORKING ON OTHER PROJECTS. 7330 04:50:38,840 --> 04:50:42,600 WE WERE ABLE TO PARTICIPATE IN 7331 04:50:42,600 --> 04:50:45,720 THE VEXAS SYNDROME. 7332 04:50:45,720 --> 04:50:48,320 ALSO PARTICIPATING IN THE 7333 04:50:48,320 --> 04:50:49,720 POTENTIALLY CURATIVE TREATMENT 7334 04:50:49,720 --> 04:50:50,880 HERE AT NIH AND THEN OF COURSE 7335 04:50:50,880 --> 04:50:54,160 THE RP FOUNDATION CONTINUES TO 7336 04:50:54,160 --> 04:50:57,560 PROMOTE AWARENESS AND RESEARCH 7337 04:50:57,560 --> 04:50:59,160 AND EVERYTHING THAT CAN BE 7338 04:50:59,160 --> 04:51:00,800 HELPFUL FOR SOME OF THE 7339 04:51:00,800 --> 04:51:02,000 PATIENTS. 7340 04:51:02,000 --> 04:51:03,520 SO THIS IS A -- I HAVE TWO MORE 7341 04:51:03,520 --> 04:51:03,760 SLIDES. 7342 04:51:03,760 --> 04:51:06,160 BUT I JUST WANTED TO AGAIN 7343 04:51:06,160 --> 04:51:06,720 HIGHLIGHT THAT YOU HAVE THE 7344 04:51:06,720 --> 04:51:07,600 POWER. 7345 04:51:07,600 --> 04:51:08,840 YOU HAVE THE POWER TO HAVE HOPE 7346 04:51:08,840 --> 04:51:12,640 AND THEN YOU CAN MAKE THAT A 7347 04:51:12,640 --> 04:51:13,200 REALITY. 7348 04:51:13,200 --> 04:51:15,280 AND IT DOESN'T MATTER HOW LITTLE 7349 04:51:15,280 --> 04:51:16,600 YOU DO. 7350 04:51:16,600 --> 04:51:19,480 YOU COULD BE -- AND I UNDERSTAND 7351 04:51:19,480 --> 04:51:21,720 THERE ARE DAYS THAT ARE HORR IB, 7352 04:51:21,720 --> 04:51:24,000 LIKE WHAT AM I GOING TO DO 7353 04:51:24,000 --> 04:51:24,200 TODAY? 7354 04:51:24,200 --> 04:51:25,200 BUT IF YOU JUST DO A LITTLE BIT 7355 04:51:25,200 --> 04:51:26,440 ONE DAY, THAT IS SOMETHING YOU 7356 04:51:26,440 --> 04:51:28,880 CAN CONTRIBUTE. 7357 04:51:28,880 --> 04:51:29,880 AND JUST GUIDE SOMEONE THAT HAS 7358 04:51:29,880 --> 04:51:31,360 YOUR SAME DISEASE. 7359 04:51:31,360 --> 04:51:32,360 THERE ARE SO MANY THINGS YOU 7360 04:51:32,360 --> 04:51:34,760 COULD DO TO MAKE THAT A REALITY. 7361 04:51:34,760 --> 04:51:36,560 AND THEN JUST TO HIGHLIGHT THAT 7362 04:51:36,560 --> 04:51:37,880 THAT REALITY LOOKS MORE LIKE 7363 04:51:37,880 --> 04:51:38,080 THIS. 7364 04:51:38,080 --> 04:51:41,120 IT LOOKS LIKE YOU HAVE A TEAM, 7365 04:51:41,120 --> 04:51:41,840 AN ARMY, A BUNCH OF PEOPLE THAT 7366 04:51:41,840 --> 04:51:43,120 WANT TO WORK WITH YOU AND WANT 7367 04:51:43,120 --> 04:51:44,520 TO HELP YOU. 7368 04:51:44,520 --> 04:51:46,040 AND THEY ALL WANT TO HELP YOU. 7369 04:51:46,040 --> 04:51:47,400 I MEAN, I THINK THAT WE ARE ALL 7370 04:51:47,400 --> 04:51:47,640 HUMANS. 7371 04:51:47,640 --> 04:51:50,960 WE LIKE TO HELP OTHER HUMANS, 7372 04:51:50,960 --> 04:51:51,160 RIGHT? 7373 04:51:51,160 --> 04:51:53,600 SO I THINK THAT YOU HAVE THE 7374 04:51:53,600 --> 04:51:53,800 POWER. 7375 04:51:53,800 --> 04:51:55,880 AND IT'S IMPORTANT TO TAKE 7376 04:51:55,880 --> 04:51:59,000 ACTION AND ENGAGE AND 7377 04:51:59,000 --> 04:52:03,720 PARTICIPATE IN RESEARCH AND 7378 04:52:03,720 --> 04:52:09,320 AWARENESS. 7379 04:52:09,320 --> 04:52:10,800 >> THANK YOU, MARCIE. 7380 04:52:10,800 --> 04:52:12,520 AS YOU CAN SEE, THIS IS THE 7381 04:52:12,520 --> 04:52:15,080 SLIDE OF SOME OF THE PATIENTS WE 7382 04:52:15,080 --> 04:52:18,040 LOST MORE RECENTLY. 7383 04:52:18,040 --> 04:52:19,560 AND IT'S HARD BUT ANOTHER THING 7384 04:52:19,560 --> 04:52:21,480 I LEARNED HERE AT NIH IS EXACTLY 7385 04:52:21,480 --> 04:52:24,240 HOW MUCH THE RESEARCHERS TRULY 7386 04:52:24,240 --> 04:52:25,800 APPRECIATE THE PATIENTS. 7387 04:52:25,800 --> 04:52:26,440 AND DR. GRAYSON LOOKED AT ME A 7388 04:52:26,440 --> 04:52:29,520 FEW YEARS AGO AND SAID, AND 7389 04:52:29,520 --> 04:52:31,280 MARCIE SAID IT A SLIGHTLY 7390 04:52:31,280 --> 04:52:32,680 DIFFERENT WAY. 7391 04:52:32,680 --> 04:52:34,320 WITHOUT PATIENTS, THERE ISN'T 7392 04:52:34,320 --> 04:52:34,840 ANY RESEARCH. 7393 04:52:34,840 --> 04:52:37,320 SO I LOVE THE RESPECT THAT THEY 7394 04:52:37,320 --> 04:52:40,880 HAVE FOR PATIENTS AND FOR FAMILY 7395 04:52:40,880 --> 04:52:41,800 MEMBERS AND WE APPRECIATE YOUR 7396 04:52:41,800 --> 04:52:42,920 SUPPORT HERE TODAY. 7397 04:52:42,920 --> 04:52:46,000 THANK YOU NIH, THANK YOU MARCIE. 7398 04:52:46,000 --> 04:52:56,200 [ APPLAUSE ] 7399 04:52:58,520 --> 04:52:59,680 >> THANK YOU FOR SHARING YOUR 7400 04:52:59,680 --> 04:52:59,880 STORY. 7401 04:52:59,880 --> 04:53:01,800 THAT WAS REALLY POWERFUL. 7402 04:53:01,800 --> 04:53:05,280 WE ARE NOT TAKING ANY QUESTIONS 7403 04:53:05,280 --> 04:53:06,720 BECAUSE RUNNING A LITTLE BEHIND 7404 04:53:06,720 --> 04:53:08,800 AND WE HAVE TO GET THE AV ISSUE 7405 04:53:08,800 --> 04:53:10,560 FIXED FOR OUR SESSION 4. 7406 04:53:10,560 --> 04:53:13,720 WE WILL HAVE VIRTUAL SPEAKERS 7407 04:53:13,720 --> 04:53:15,680 THERE TOO SO HOPEFULLY EVERYONE 7408 04:53:15,680 --> 04:53:16,560 UNDERSTANDS WE ARE GOING TO TAKE 7409 04:53:16,560 --> 04:53:18,720 A BREAK UNTIL 3:25. 7410 04:53:18,720 --> 04:53:43,040 THANK YOU, EVERYONE. 7411 04:53:43,040 --> 04:53:46,120 I'M PANGKONG FOX, THE 7412 04:53:46,120 --> 04:53:48,680 SCIENCE ENGAGEMENT DIRECTOR. 7413 04:53:48,680 --> 04:53:51,120 A PARENT-LED PATIENT 7414 04:53:51,120 --> 04:53:53,160 ADVOCACY GROUPS ESTABLISHED IN 7415 04:53:53,160 --> 04:53:53,520 MARCH OF 2020 7416 04:53:53,520 --> 04:53:56,440 WE ARE A RELATIVELY YOUNG 7417 04:53:56,440 --> 04:53:57,720 ORGANIZATIONS AND WE WERE 7418 04:53:57,720 --> 04:54:00,040 ESTABLISHED FOR THOSE LIVING 7419 04:54:00,040 --> 04:54:02,520 WITH CACN A1A DISORDERS, RARE 7420 04:54:02,520 --> 04:54:04,000 NEUROLOGICAL DISORDERS. 7421 04:54:04,000 --> 04:54:05,960 THESE ARE JUST A FEW OF THE -- 7422 04:54:05,960 --> 04:54:08,520 THESE ARE A FEW SPACES THAT 7423 04:54:08,520 --> 04:54:10,920 REPRESENT OUR COMMUNITY. 7424 04:54:10,920 --> 04:54:13,400 AND THIS GUY HERE IS MY SON, 7425 04:54:13,400 --> 04:54:13,960 ALEX. 7426 04:54:13,960 --> 04:54:15,360 AND HE IS 7. 7427 04:54:15,360 --> 04:54:18,440 AND HE WAS DIAGNOSED WITH THE 7428 04:54:18,440 --> 04:54:21,240 THIS DISORDER IN DECEMBER OF 7429 04:54:21,240 --> 04:54:21,760 2021. 7430 04:54:21,760 --> 04:54:22,280 HE WAS 6. 7431 04:54:22,280 --> 04:54:24,600 SO THAT IS WHEN MY FAMILY'S 7432 04:54:24,600 --> 04:54:26,080 JOURNEY INTO THE RARE DISEASE 7433 04:54:26,080 --> 04:54:26,400 WORLD BEGAN. 7434 04:54:26,400 --> 04:54:28,360 AS A FORMERRER SCIENTIST AND 7435 04:54:28,360 --> 04:54:30,640 FORMER EDUCATOR, I HAD THE 7436 04:54:30,640 --> 04:54:31,520 OPPORTUNITY TO JOIN THE 7437 04:54:31,520 --> 04:54:33,000 LEADERSHIP TEAM AT THE 7438 04:54:33,000 --> 04:54:33,880 FOUNDATION JUST LAST SUMMER TO 7439 04:54:33,880 --> 04:54:35,520 HELP THEM CARRY OUT THEIR 7440 04:54:35,520 --> 04:54:36,000 MISSION. 7441 04:54:36,000 --> 04:54:37,400 SO I'M REALLY EXCITED TO BE HERE 7442 04:54:37,400 --> 04:54:39,520 TODAY AND SHARE OUR STORY OF HOW 7443 04:54:39,520 --> 04:54:41,040 WE ARE ENGAGING OUR PATIENT 7444 04:54:41,040 --> 04:54:43,120 COMMUNITY TOW BUILD OUR 7445 04:54:43,120 --> 04:54:44,120 PRE-CLINICAL TOOLBOX TO GET TO 7446 04:54:44,120 --> 04:54:45,680 THE CLINICAL TRIALS AND GET 7447 04:54:45,680 --> 04:54:48,520 TREATMENTS APPROVED FOR OUR 7448 04:54:48,520 --> 04:54:50,520 COMMUNITY. 7449 04:54:50,520 --> 04:54:52,000 SO WHAT IS THIS? 7450 04:54:52,000 --> 04:54:56,200 IT'S A GENE THAT ENCODES FOR A 7451 04:54:56,200 --> 04:54:58,560 CALCIUM ION CHANNEL THAT IS 7452 04:54:58,560 --> 04:55:00,400 IMPORTANT FOR NEUROTRANSMISSION 7453 04:55:00,400 --> 04:55:01,920 OR HAVE NEURONS TALK TO EACH 7454 04:55:01,920 --> 04:55:03,480 OTHER USING ELECTRICAL SIGNALS. 7455 04:55:03,480 --> 04:55:05,760 AND WHAT IT DOES, IT HANGS OUT 7456 04:55:05,760 --> 04:55:07,640 AT THE END OF NEURONS AND 7457 04:55:07,640 --> 04:55:09,680 PHYSICALLY OPENS UP AND ALLOWS 7458 04:55:09,680 --> 04:55:10,680 CALCIUM IONS IN. 7459 04:55:10,680 --> 04:55:13,320 THIS IS REALLY IMPORTANT FOR THE 7460 04:55:13,320 --> 04:55:14,200 RAPID TRANSMISSION OF 7461 04:55:14,200 --> 04:55:16,320 INFORMATION TO THE NEIGHBORING 7462 04:55:16,320 --> 04:55:18,520 NEURONS AND TO THE REST OF THE 7463 04:55:18,520 --> 04:55:19,600 BODY. 7464 04:55:19,600 --> 04:55:21,560 SO YOU CAN IMAGINE THAT 7465 04:55:21,560 --> 04:55:23,880 MUTATIONS OR CHANGES TO THE GENE 7466 04:55:23,880 --> 04:55:26,120 REALLY IMPACT COMMUNICATION IN 7467 04:55:26,120 --> 04:55:26,640 THE BRAIN. 7468 04:55:26,640 --> 04:55:28,920 AND IT LEADS TO NEUROLOGICAL 7469 04:55:28,920 --> 04:55:29,200 DISORDERS. 7470 04:55:29,200 --> 04:55:31,680 SO IN OUR COMMUNITY, WE HAVE 7471 04:55:31,680 --> 04:55:32,640 BOTH LOSS OF FUNCTION OF 7472 04:55:32,640 --> 04:55:38,640 MUTATIONS AND GAIN-OF-FUNCTION 7473 04:55:38,640 --> 04:55:46,560 MUTATIONS. 7474 04:55:46,560 --> 04:55:50,520 THESE ARE SEVERE BOUTS OF SEVERE 7475 04:55:50,520 --> 04:55:51,880 ATAXIA, LASTING FROM 30 MINUTES 7476 04:55:51,880 --> 04:55:52,160 TO HOURS. 7477 04:55:52,160 --> 04:55:53,560 AND THEY CAN BE VERY 7478 04:55:53,560 --> 04:55:57,640 DEBILITATING OF THE OUR 7479 04:55:57,640 --> 04:55:59,440 GAIN-OF-FUNCTION ARE LINKED TO 7480 04:55:59,440 --> 04:56:01,920 MIGRAINES WITH AURA AND THEY ARE 7481 04:56:01,920 --> 04:56:03,080 ALSO -- THEY ARE ACCOMPANIED BY 7482 04:56:03,080 --> 04:56:05,200 THE PARALYSIS OR LOSS AND 7483 04:56:05,200 --> 04:56:06,560 WEAKENING OF ONE SIDE OF THE 7484 04:56:06,560 --> 04:56:06,760 BODY. 7485 04:56:06,760 --> 04:56:09,840 AND ASSOCIATED WITH SOME REALLY 7486 04:56:09,840 --> 04:56:11,360 EXTREME CHANGES IN BRAIN 7487 04:56:11,360 --> 04:56:11,680 ACTIVITY. 7488 04:56:11,680 --> 04:56:14,480 AND SO, THEY CAN ALSO BE 7489 04:56:14,480 --> 04:56:15,880 LIFE-THREATENING BUT THE 7490 04:56:15,880 --> 04:56:16,680 IMMEDIATE MEDICAL ATTENTION IS 7491 04:56:16,680 --> 04:56:18,600 NOT TAKEN. 7492 04:56:18,600 --> 04:56:21,240 OVER THE LAST I'D SAY 5-10 7493 04:56:21,240 --> 04:56:22,240 YEARS, THE RESEARCH LITERATURE 7494 04:56:22,240 --> 04:56:24,920 HAS REALLY UNCOVERED A LARGER 7495 04:56:24,920 --> 04:56:26,320 SECTOR OF NEURODEVELOPMENTAL 7496 04:56:26,320 --> 04:56:27,320 DISORDERS, INCLUDING 7497 04:56:27,320 --> 04:56:28,760 DEVELOPMENTAL DELAY, 7498 04:56:28,760 --> 04:56:31,280 INTELLECTUAL DISABILITY, ASD, 7499 04:56:31,280 --> 04:56:33,520 HYPE TONIA, SEIZURES AND 7500 04:56:33,520 --> 04:56:34,640 EPILEPSIES INCLUDING THE MORE 7501 04:56:34,640 --> 04:56:36,840 SEVERE DEVELOPMENTAL AND 7502 04:56:36,840 --> 04:56:39,000 EPILEPTIC ENCEPHALOPATHIES. 7503 04:56:39,000 --> 04:56:40,440 ADDING TO A COMPLEXATIVE 7504 04:56:40,440 --> 04:56:42,240 PATHWAY, WE ALSO HAVE A LARGE 7505 04:56:42,240 --> 04:56:43,600 RANGE OF SEVERITY. 7506 04:56:43,600 --> 04:56:45,600 ABOUT A THIRD OF OUR PATIENT 7507 04:56:45,600 --> 04:56:47,760 COMMUNITY ARE NON AMBULATORY. 7508 04:56:47,760 --> 04:56:49,280 A THIRD OF NON VERBAL AND THE 7509 04:56:49,280 --> 04:56:52,080 REST HAVE VARIOUS DEGREES OF 7510 04:56:52,080 --> 04:56:53,080 LEVELS OF COMMUNICATION 7511 04:56:53,080 --> 04:56:53,320 MOBILITY. 7512 04:56:53,320 --> 04:56:55,360 WE ALSO SEE SOME LEVELS OF 7513 04:56:55,360 --> 04:56:58,440 CEREBELLAR OR LEVELS OF 7514 04:56:58,440 --> 04:56:59,760 NEURODEEN JUDGEERATION IN THE 7515 04:56:59,760 --> 04:57:02,280 FORM OF CEREBELLER ATROPHY. 7516 04:57:02,280 --> 04:57:04,400 AFFECTING A FEW PATIENTS. 7517 04:57:04,400 --> 04:57:07,840 WE ALSO HAVE AMR CHAIN AT 7518 04:57:07,840 --> 04:57:09,400 300,000 NUCLEOTIDES GENOMIC 7519 04:57:09,400 --> 04:57:11,240 SEQUENCE AND A LARGE CODING 7520 04:57:11,240 --> 04:57:14,120 SEQUENCE AND A LARGE NUMBER OF 7521 04:57:14,120 --> 04:57:14,920 VARIETIES THAT HAVE BEEN 7522 04:57:14,920 --> 04:57:16,240 REPORTED AND SPAN THE ENTIRE 7523 04:57:16,240 --> 04:57:18,160 GENOME. 7524 04:57:18,160 --> 04:57:19,480 SO BEING A YOUNG ORGANIZATION, 7525 04:57:19,480 --> 04:57:22,680 WE HAVE TO BE STRATEGIC ABOUT 7526 04:57:22,680 --> 04:57:23,320 WHERE WE ARE INVESTING OUR 7527 04:57:23,320 --> 04:57:24,640 FUNDING AND RESOURCES. 7528 04:57:24,640 --> 04:57:25,960 WHAT IT REALLY COMES DOWN TO IS 7529 04:57:25,960 --> 04:57:29,480 OUR FOCUS HAS BEEN, HOW DO WE 7530 04:57:29,480 --> 04:57:31,600 DERISK OUR GENE DISEASE IN 7531 04:57:31,600 --> 04:57:31,960 CLINICAL TRIALS? 7532 04:57:31,960 --> 04:57:32,840 WHAT CAN WE DO AS AN 7533 04:57:32,840 --> 04:57:34,360 ORGANIZATION TO MAKE OURSELVES 7534 04:57:34,360 --> 04:57:36,040 ATTRACTIVE TO AN INSTITUTION OR 7535 04:57:36,040 --> 04:57:36,880 A COMPANY THAT COULD INVEST IN 7536 04:57:36,880 --> 04:57:40,080 US AND HELP US DEVELOP 7537 04:57:40,080 --> 04:57:42,160 THERAPEUTICS FOR OUR COMMUNITY? 7538 04:57:42,160 --> 04:57:45,880 SO WE HAVE A FOUNDATION THAT HAS 7539 04:57:45,880 --> 04:57:47,920 BEEN DOING AS PART OF A CLINICAL 7540 04:57:47,920 --> 04:57:51,280 TRIAL READY INNOCENCE ENOUGH 7541 04:57:51,280 --> 04:57:52,680 TISH, IS BUILDING A PRE-CLINICAL 7542 04:57:52,680 --> 04:57:52,920 TOOLBOX. 7543 04:57:52,920 --> 04:57:55,280 I'LL JUST TALK ABOUT THE FIRST 7544 04:57:55,280 --> 04:57:56,520 FIVE HERE, INCLUDING NATURAL 7545 04:57:56,520 --> 04:57:58,360 HISTORY STUDIES AND CITIZEN AND 7546 04:57:58,360 --> 04:57:58,680 BIOBANKING. 7547 04:57:58,680 --> 04:58:00,160 WHAT WE HAVE ESTABLISHED THE 7548 04:58:00,160 --> 04:58:01,320 STRONG FOUNDATION WITH THE 7549 04:58:01,320 --> 04:58:04,880 PRE-CLINICAL TOOLBOX, WE CAN 7550 04:58:04,880 --> 04:58:06,360 START INVESTING IN BASIC 7551 04:58:06,360 --> 04:58:07,000 RESEARCH LIKE DISEASE RESEARCH. 7552 04:58:07,000 --> 04:58:08,760 WE CAN MOVE INTO TRANSLATIONAL 7553 04:58:08,760 --> 04:58:10,640 RESEARCH, LIKE THERAPEUTIC 7554 04:58:10,640 --> 04:58:10,960 DEVELOPMENT. 7555 04:58:10,960 --> 04:58:12,040 AND THEN EVENTUALLY WE WANT TO 7556 04:58:12,040 --> 04:58:14,680 GET TO THOSE PROOF-OF-CONCEPT 7557 04:58:14,680 --> 04:58:16,400 STUDIES AND THESE ARE THE 7558 04:58:16,400 --> 04:58:17,280 STUDIES THAT WILL SHOW OUR 7559 04:58:17,280 --> 04:58:19,480 DISEASE AND OUR GENE ARE 7560 04:58:19,480 --> 04:58:20,960 AMENABLE TO THE TREATMENTS THAT 7561 04:58:20,960 --> 04:58:21,640 WE ARE GOING AFTER AND THAT'S 7562 04:58:21,640 --> 04:58:25,120 REALLY IMPORTANT TO THE FDA. 7563 04:58:25,120 --> 04:58:27,280 AND OF COURSE WE CAN'T DO THAT 7564 04:58:27,280 --> 04:58:29,800 WITHOUT FUNDING FROM OR MONEY 7565 04:58:29,800 --> 04:58:32,120 FROM FUNDRAISING AND OUR 7566 04:58:32,120 --> 04:58:33,600 COMMUNITY ENGAGING AND GETTING 7567 04:58:33,600 --> 04:58:35,600 INVOLVED WITH US. 7568 04:58:35,600 --> 04:58:37,720 SO ONE OF THE FIRST THINGS WE 7569 04:58:37,720 --> 04:58:39,360 DID IS LAUNCHED A NATURAL 7570 04:58:39,360 --> 04:58:41,240 HISTORY STUDY BACK IN 2021. 7571 04:58:41,240 --> 04:58:43,760 AND THIS IS WITH DR. WENDY CHUNG 7572 04:58:43,760 --> 04:58:44,960 FROM COLUMBIA UNIVERSITY. 7573 04:58:44,960 --> 04:58:46,400 THIS IS STILL ONGOING. 7574 04:58:46,400 --> 04:58:47,560 IT'S COMPLETELY VIRTUAL. 7575 04:58:47,560 --> 04:58:50,640 WE ARE COLLECTING DATA DIRECTLY 7576 04:58:50,640 --> 04:58:52,440 FROM PATIENTS AND CAREGIVERS 7577 04:58:52,440 --> 04:58:53,760 THROUGH SURVEY DATA, TO REALLY 7578 04:58:53,760 --> 04:58:54,480 UNDERSTAND WHAT THE DISEASE IS 7579 04:58:54,480 --> 04:58:55,520 ALL ABOUT. 7580 04:58:55,520 --> 04:58:58,640 AND THEN THE LAST TWO YEARS, WE 7581 04:58:58,640 --> 04:59:02,480 HAVE BEEN TO RECRUIT OVER 150 7582 04:59:02,480 --> 04:59:03,120 PARTICIPANTS, PUBLICATION CAME 7583 04:59:03,120 --> 04:59:06,120 OUT LAST SUMMER FOR ALL THAT WAS 7584 04:59:06,120 --> 04:59:07,680 PUBLISHED IN CLINICAL GENETICS. 7585 04:59:07,680 --> 04:59:08,560 I WANT TO SHOW YOU SOME OF THE 7586 04:59:08,560 --> 04:59:10,640 DATA THAT CAME OUT OF THAT. 7587 04:59:10,640 --> 04:59:21,160 SO IF YOU LOOK UP HERE YOU CAN 7588 04:59:22,600 --> 04:59:23,960 SEE THE MAJORITY REPORTED SOME 7589 04:59:23,960 --> 04:59:27,680 LEVEL OF DEVELOPMENTAL DELAY 7590 04:59:27,680 --> 04:59:28,360 FOLLOWED BY HYPE TONIA, LOW 7591 04:59:28,360 --> 04:59:31,680 MUSCLE TONE, CONGENITAL ATAXIA 7592 04:59:31,680 --> 04:59:33,680 AND AN EYE MOVEMENT DISORDER, 7593 04:59:33,680 --> 04:59:38,240 EPILEPSY AND THEN YOU CAN SEE 7594 04:59:38,240 --> 04:59:39,360 MIGRAINES AND EPISODICS THERE 7595 04:59:39,360 --> 04:59:39,560 TOO. 7596 04:59:39,560 --> 04:59:41,320 WE ALSO HAD A CHANCE TO LEARN 7597 04:59:41,320 --> 04:59:43,880 ABOUT VERY RARE BUT VERY SEVERE 7598 04:59:43,880 --> 04:59:46,120 NEUROLOGICAL SYMPTOMS SUCH AS 7599 04:59:46,120 --> 04:59:48,400 COMA, CEREBRAL EDEMA OR SWELLING 7600 04:59:48,400 --> 04:59:50,840 OF THE BRAIN AND STROKE. 7601 04:59:50,840 --> 04:59:52,640 AND WE ALSO HAD A GLIMPSE INTO 7602 04:59:52,640 --> 04:59:54,280 THE SEIZURE SPECTRUM. 7603 04:59:54,280 --> 04:59:56,120 SO THESE NUMBERS ARE STILL SMALL 7604 04:59:56,120 --> 04:59:57,200 AT THE MOMENT. 7605 04:59:57,200 --> 04:59:59,880 IT WAS JUST FOR A COHORT OF 47. 7606 04:59:59,880 --> 05:00:01,280 BUT IT WILL BE INTERESTING TO 7607 05:00:01,280 --> 05:00:03,720 SHE HOW THIS DATA CHANGES OVER 7608 05:00:03,720 --> 05:00:05,640 TIME AND WITH A MUCH LARGER 7609 05:00:05,640 --> 05:00:06,080 PATIENT POPULATION. 7610 05:00:06,080 --> 05:00:07,680 AND THE IDEA AT SOME POINT WE 7611 05:00:07,680 --> 05:00:09,280 CAN LEVERAGE THIS AND HAVE AN 7612 05:00:09,280 --> 05:00:13,080 ATTRACTIVE PARTNER FOR 7613 05:00:13,080 --> 05:00:21,320 THERAPEUTIC DEVELOPMENT. 7614 05:00:21,320 --> 05:00:22,640 RARE X IS A PLATFORM MADE TO 7615 05:00:22,640 --> 05:00:24,360 COLLECT AND SHARE RARE DISEASE 7616 05:00:24,360 --> 05:00:25,440 DATA. 7617 05:00:25,440 --> 05:00:26,400 AND THAT NUMBER 25 IS WRONG. 7618 05:00:26,400 --> 05:00:28,960 THERE ARE OVER 40 RARE DISEASES 7619 05:00:28,960 --> 05:00:30,040 REPRESENTED IN THIS PLATFORM. 7620 05:00:30,040 --> 05:00:36,240 WE ONLY HAVE 60 PARTICIPANTS. 7621 05:00:36,240 --> 05:00:38,640 BUT WE DID THIS TO PULT OUR DATA 7622 05:00:38,640 --> 05:00:43,360 IN FRONT OF A DIFFERENT SET OF 7623 05:00:43,360 --> 05:00:43,560 EYES. 7624 05:00:43,560 --> 05:00:45,000 SO IN MAY, THEY ARE LAUNCHING AN 7625 05:00:45,000 --> 05:00:46,040 OPEN SCIENCE DATA CHALLENGE. 7626 05:00:46,040 --> 05:00:48,920 THEY ARE GOING TO MAKE THEIR 7627 05:00:48,920 --> 05:00:50,120 DATABASE REALLY AVAILABLE TO 7628 05:00:50,120 --> 05:00:52,080 SCIENTISTS FROM BOTH ACADEMIA 7629 05:00:52,080 --> 05:00:52,720 AND INDUSTRY AND THEY ARE GOING 7630 05:00:52,720 --> 05:00:53,840 TO HAVE THE CHANCE TO LOOK AT 7631 05:00:53,840 --> 05:00:55,920 THE DATA AND ANALYZE IT, 7632 05:00:55,920 --> 05:00:57,920 COLLABORATE AND EVEN APPLY FOR 7633 05:00:57,920 --> 05:00:59,720 FUNDING FOR POTENTIAL PROJECTS. 7634 05:00:59,720 --> 05:01:02,160 SO, WE ARE EXCITED TO HAVE OUR 7635 05:01:02,160 --> 05:01:05,520 PATIENT DATA INCLUDED IN THIS 7636 05:01:05,520 --> 05:01:15,720 INITIATIVE. 7637 05:01:18,280 --> 05:01:20,400 THIS PUTS THEM ALL INTO ONE 7638 05:01:20,400 --> 05:01:22,440 PLACE UNDER THE OWNERSHIP OF THE 7639 05:01:22,440 --> 05:01:23,080 PATIENT AND CAREGIVERS. 7640 05:01:23,080 --> 05:01:24,920 THIS IS A REALLY GREAT SERVICE 7641 05:01:24,920 --> 05:01:26,360 TO OUR COMMUNITY BUT IT CAN ALSO 7642 05:01:26,360 --> 05:01:28,560 BE A GREAT SERVICE TO OUR 7643 05:01:28,560 --> 05:01:31,760 RESEARCH COMMUNITY AS WELL AS 7644 05:01:31,760 --> 05:01:33,120 PATIENTS CONSENT TO SHARE THEIR 7645 05:01:33,120 --> 05:01:38,120 DATA. 7646 05:01:38,120 --> 05:01:40,240 ONE OF THE THINGS WE ARE EXCITED 7647 05:01:40,240 --> 05:01:43,000 ABOUT IS THE BUILDING OF THESE 7648 05:01:43,000 --> 05:01:50,320 RETROSPECTIVE NATURAL HISTORY. 7649 05:01:50,320 --> 05:01:52,720 WE SEE THIS WAY AS A WAY TO COMP 7650 05:01:52,720 --> 05:01:54,640 COMMENT WHAT WE ARE ALREADY 7651 05:01:54,640 --> 05:01:56,080 DOING. 7652 05:01:56,080 --> 05:01:56,920 AND PUTTING ALL OF THIS TOGETHER 7653 05:01:56,920 --> 05:02:00,320 WILL GIVE US THE MOST 7654 05:02:00,320 --> 05:02:02,520 COMPREHENSIVE PICTURE OF RELATED 7655 05:02:02,520 --> 05:02:02,760 DISORDERS. 7656 05:02:02,760 --> 05:02:05,680 WE WANT TO LEVERAGE THIS DATA TO 7657 05:02:05,680 --> 05:02:06,840 GET SOMEBODY INTERESTED TO 7658 05:02:06,840 --> 05:02:11,200 DEVELOP THERAPEUTICS. 7659 05:02:11,200 --> 05:02:12,600 AND NASHA WILL BE SPEAKING RIGHT 7660 05:02:12,600 --> 05:02:13,800 AFTER ME AND SHE IS GOING TO BE 7661 05:02:13,800 --> 05:02:15,360 TELLING YOU ABOUT CITIZEN IN 7662 05:02:15,360 --> 05:02:16,640 MUCH MORE DETAIL. 7663 05:02:16,640 --> 05:02:18,000 I'M LOOKING FORWARD TO SHARING 7664 05:02:18,000 --> 05:02:20,240 FROM HER BECAUSE WE JUST START 7665 05:02:20,240 --> 05:02:22,000 ON BOARDING SO THIS IS STILL 7666 05:02:22,000 --> 05:02:23,880 VERY NEW TO US. 7667 05:02:23,880 --> 05:02:27,840 ANOTHER THING WE STARTED WAS A 7668 05:02:27,840 --> 05:02:31,040 DISEASE CONCEPT MODEL STUDY. 7669 05:02:31,040 --> 05:02:32,160 THIS IS IN COLLABORATION WITH 7670 05:02:32,160 --> 05:02:34,560 THE DISEASE CENTER AND 7671 05:02:34,560 --> 05:02:35,160 UNIVERSITY OF PENNSYLVANIA. 7672 05:02:35,160 --> 05:02:37,560 WE ARE FORTUNATE TO HAVE A 7673 05:02:37,560 --> 05:02:39,200 GENETIC COUNSELING MASTER 7674 05:02:39,200 --> 05:02:42,160 STUDENT USE US FOR HER STUDY AS 7675 05:02:42,160 --> 05:02:43,480 HER THESIS. 7676 05:02:43,480 --> 05:02:47,840 SO WHAT THIS IS, IT'S A 7677 05:02:47,840 --> 05:02:48,480 SYSTEMATIC COLLECTION CODING AND 7678 05:02:48,480 --> 05:02:50,120 CURATION OF PATIENT, CAREGIVER 7679 05:02:50,120 --> 05:02:53,040 AND CLINICIAN-REPORTED DATA 7680 05:02:53,040 --> 05:02:56,080 FOCUSING ON IDENTIFYING THE 7681 05:02:56,080 --> 05:02:58,680 DISEASE BURDENS OF THESE 7682 05:02:58,680 --> 05:02:59,240 DISORDERS AND THE QUALITY OF 7683 05:02:59,240 --> 05:02:59,440 LIFE. 7684 05:02:59,440 --> 05:03:00,320 AND THIS IS IMPORTANT BECAUSE WE 7685 05:03:00,320 --> 05:03:02,400 ARE GOING TO BE USING THIS DATA 7686 05:03:02,400 --> 05:03:05,520 TO PRESENT TO THE FDA DURING 7687 05:03:05,520 --> 05:03:06,920 THOSE PATIENT-FOCUSED DRUG 7688 05:03:06,920 --> 05:03:07,680 DEVELOPMENT MEETINGS. 7689 05:03:07,680 --> 05:03:09,920 SO THOSE FUTURE MEETINGS, WE 7690 05:03:09,920 --> 05:03:13,200 WILL HAVE THIS DATA TO SHOW THE 7691 05:03:13,200 --> 05:03:14,960 FDA WHAT THESE DISEASES ARE AND 7692 05:03:14,960 --> 05:03:16,120 WHAT ARE THE NEEDS AND THE 7693 05:03:16,120 --> 05:03:17,640 TREATMENT GAP THAT IS EXIST IN 7694 05:03:17,640 --> 05:03:22,040 OUR COMMUNITY. 7695 05:03:22,040 --> 05:03:23,840 AND THEN WE ALSO HAVE A 7696 05:03:23,840 --> 05:03:24,840 BIOBANKING PROGRAM. 7697 05:03:24,840 --> 05:03:26,280 SO WE LAUNCHED THIS BACK IN 7698 05:03:26,280 --> 05:03:28,080 NOVEMBER OF 2021 WITH COMBINED 7699 05:03:28,080 --> 05:03:31,400 BRAIN, WHICH IS A RARE DISEASE 7700 05:03:31,400 --> 05:03:32,000 NEURODEVELOPMENTAL CONSORTIUM 7701 05:03:32,000 --> 05:03:33,600 THAT DOES A LOT MORE THAN JUST 7702 05:03:33,600 --> 05:03:33,920 BIOBANKING. 7703 05:03:33,920 --> 05:03:35,760 AND WE ALSO HAVE SAMPLE 7704 05:03:35,760 --> 05:03:37,960 SEPTEMBER TO THE NATIONAL 7705 05:03:37,960 --> 05:03:38,840 INSTITUTE OF GENERAL MEDICAL 7706 05:03:38,840 --> 05:03:39,240 SCIENCES. 7707 05:03:39,240 --> 05:03:42,400 AND SO WHAT THIS IS, THESE 7708 05:03:42,400 --> 05:03:44,200 PATIENT DERIVED -- WHY DO WE 7709 05:03:44,200 --> 05:03:44,960 CARE ABOUT THEM? 7710 05:03:44,960 --> 05:03:50,400 THESE ARE CELLS THAT CAN BE 7711 05:03:50,400 --> 05:03:51,400 DERIVED FROM PATIENT BLOOD 7712 05:03:51,400 --> 05:03:51,680 SAMPLES. 7713 05:03:51,680 --> 05:03:53,800 THEY HAVE THE ABILITY TO TURN 7714 05:03:53,800 --> 05:03:55,800 INTO ANY TYPE OF CELL. 7715 05:03:55,800 --> 05:03:56,920 SO FOR THIS DISEASE AND DISEASE 7716 05:03:56,920 --> 05:03:59,440 RESEARCH, WE CAN TAKE THESE 7717 05:03:59,440 --> 05:04:02,000 PATIENT DERIVED IPSCs, 7718 05:04:02,000 --> 05:04:03,600 DIFFERENT ENT 8 THEM WITH 7719 05:04:03,600 --> 05:04:05,840 NEURONS AND STUDY THE IMPASSE OF 7720 05:04:05,840 --> 05:04:06,680 THESE VARIANTS OUTSIDE OF THE 7721 05:04:06,680 --> 05:04:07,280 BODY. 7722 05:04:07,280 --> 05:04:08,920 WHICH IS EASIER THAN TRYING TO 7723 05:04:08,920 --> 05:04:10,040 GET INTO THE BRAIN. 7724 05:04:10,040 --> 05:04:13,800 AND SO WE CURRENTLY HAVE THREE 7725 05:04:13,800 --> 05:04:15,760 COMPLETED LINES, FIVE MORE IN 7726 05:04:15,760 --> 05:04:18,320 DEVELOPMENT AND THEN 7 MORE 7727 05:04:18,320 --> 05:04:19,200 COLLECTED. 7728 05:04:19,200 --> 05:04:21,000 AND THESE CAN BE OFFERED UP TO A 7729 05:04:21,000 --> 05:04:24,000 POTENTIAL COLLABORATORS AS WELL 7730 05:04:24,000 --> 05:04:26,280 FOR THERAPEUTIC DEVELOPMENT. 7731 05:04:26,280 --> 05:04:28,360 SO, I JUST WENT OVER A FEW OF 7732 05:04:28,360 --> 05:04:29,040 THE THINGS THAT WE HAVE DONE AS 7733 05:04:29,040 --> 05:04:31,520 A FOUNDATION TO GET READY FOR 7734 05:04:31,520 --> 05:04:32,160 CLINICAL TRIALS. 7735 05:04:32,160 --> 05:04:32,880 DO YOU NEED ALL OF THIS? 7736 05:04:32,880 --> 05:04:34,480 MAYBE NOT BUT WE KNOW FROM OUR 7737 05:04:34,480 --> 05:04:37,400 PERSPECTIVE, WE HAVE A LARGE 7738 05:04:37,400 --> 05:04:37,880 GENE WITH MANY VARIANTS. 7739 05:04:37,880 --> 05:04:39,520 WE HAVE A LOT OF HOMEWORK WE 7740 05:04:39,520 --> 05:04:42,640 NEED TO GET DONE BEFORE SOMEONE 7741 05:04:42,640 --> 05:04:44,320 WILL COME AND SAY WE WANT YOUR 7742 05:04:44,320 --> 05:04:45,120 DISEASE AND WE'RE GOING TO WORK 7743 05:04:45,120 --> 05:04:45,400 ON IT. 7744 05:04:45,400 --> 05:04:46,640 THAT'S WHAT WE HAVE BEEN TRYING 7745 05:04:46,640 --> 05:04:47,120 TO DO. 7746 05:04:47,120 --> 05:04:48,960 AND I'LL JUST SAY THIS ABOUT 7747 05:04:48,960 --> 05:04:50,160 ANIMAL MODEL DEVELOPMENT. 7748 05:04:50,160 --> 05:04:51,960 WE ARE STARTING TO INVEST IN 7749 05:04:51,960 --> 05:04:54,640 SOME MOUSE MODELS THAT CARRY 7750 05:04:54,640 --> 05:04:57,720 HUMAN PATHOGENIC VARIANTS AND 7751 05:04:57,720 --> 05:04:59,520 THEN LATER ON THIS YEAR, WE ARE 7752 05:04:59,520 --> 05:05:01,840 HOPING TO LAUNCH AND STUDY TO 7753 05:05:01,840 --> 05:05:03,320 IDENTIFY BIOMARKERS AND OUTCOME 7754 05:05:03,320 --> 05:05:05,080 MEASURES WHICH ARE IMPORTANT FOR 7755 05:05:05,080 --> 05:05:06,560 THOSE PROOF-OF-CONCEPT STUDIES 7756 05:05:06,560 --> 05:05:08,320 AS WELL AS CLINICAL TRIALS. 7757 05:05:08,320 --> 05:05:11,960 SO BECAUSE OF OUR PRE-CLINICAL 7758 05:05:11,960 --> 05:05:12,560 TOOLBOX, WE HAVE BEEN ABLE TO 7759 05:05:12,560 --> 05:05:14,200 INVEST IN SOME BASIC DISEASE 7760 05:05:14,200 --> 05:05:14,640 RESEARCH SO FAR. 7761 05:05:14,640 --> 05:05:17,480 WE ARE STARTING TO STUDY THE 7762 05:05:17,480 --> 05:05:19,320 IMPACTS OF ALL THE VARIANTS ON 7763 05:05:19,320 --> 05:05:20,560 PROTEIN FUNCTION AND HOW THEY 7764 05:05:20,560 --> 05:05:22,360 LEAD TO THE DISEASE PHENOTYPES 7765 05:05:22,360 --> 05:05:24,720 WE SEE AND WE ARE DOING A LOT OF 7766 05:05:24,720 --> 05:05:25,920 GENOTYPE PHENOTYPE STUDIES. 7767 05:05:25,920 --> 05:05:27,160 AGAIN TO UNDERSTAND WHAT THE 7768 05:05:27,160 --> 05:05:28,360 VARIANTS ARE DOING. 7769 05:05:28,360 --> 05:05:33,920 OUR PURPOSE THEN IS TO TRY TO 7770 05:05:33,920 --> 05:05:34,440 BUCKET OUT THESE VARIANTS 7771 05:05:34,440 --> 05:05:35,760 ACCORDING TO THE TYPE OF 7772 05:05:35,760 --> 05:05:37,200 VARIANT, AND TYPE OF SYMPTOMS 7773 05:05:37,200 --> 05:05:38,560 AND THEN WE CAN START TO 7774 05:05:38,560 --> 05:05:41,720 IDENTIFY THE MODALITIES OR THOSE 7775 05:05:41,720 --> 05:05:43,080 TARGETED APPROACHES THAT MIGHT 7776 05:05:43,080 --> 05:05:45,080 WORK FOR THOSE LITTLE CELL 7777 05:05:45,080 --> 05:05:45,520 POPULATIONS. 7778 05:05:45,520 --> 05:05:47,440 AND SO THIS YEAR WE ARE REALLY 7779 05:05:47,440 --> 05:05:50,960 HOPING TO FOCUS ON TRANSLATIONAL 7780 05:05:50,960 --> 05:05:51,920 RESEARCH IN THERAPEUTIC 7781 05:05:51,920 --> 05:05:52,200 DEVELOPMENT. 7782 05:05:52,200 --> 05:05:54,760 WE REALLY LIKE TO INVEST IN OUR 7783 05:05:54,760 --> 05:05:58,080 PURPOSING SCREEN AND WE ARE 7784 05:05:58,080 --> 05:06:00,400 POSSIBLY LOOKING AT THESE 7785 05:06:00,400 --> 05:06:01,000 ANTI-OLIGONUCLEOTIDES WHICH 7786 05:06:01,000 --> 05:06:02,560 COULD TARGET BOTH LOSS OF 7787 05:06:02,560 --> 05:06:04,440 FUNCTION AND GAIN-OF-FUNCTION 7788 05:06:04,440 --> 05:06:04,720 VARIANTS. 7789 05:06:04,720 --> 05:06:06,880 AND THEN AGAIN, WE HOPE TO KEEP 7790 05:06:06,880 --> 05:06:09,160 EXPANDING OUR BIOBANKING PROGRAM 7791 05:06:09,160 --> 05:06:10,840 AND EXPAND OUR ANIMAL MODEL 7792 05:06:10,840 --> 05:06:12,040 DEVELOPMENT FOR THOSE KEY 7793 05:06:12,040 --> 05:06:13,640 PROOF-OF-CONCEPT STUDIES THAT 7794 05:06:13,640 --> 05:06:17,080 WILL COME RIGHT BEFORE WE HIT 7795 05:06:17,080 --> 05:06:17,880 THOSE CLINICAL TRIALS. 7796 05:06:17,880 --> 05:06:20,800 SO I WANT TO END WITH THIS SLIDE 7797 05:06:20,800 --> 05:06:23,120 HERE THAT JUST SUMMARIZES ALL OF 7798 05:06:23,120 --> 05:06:25,600 THE DIFFERENT THINGS THAT -- ANY 7799 05:06:25,600 --> 05:06:28,000 RARE DISEASE ORGANIZATION WILL 7800 05:06:28,000 --> 05:06:31,040 ACCOMPLISH BY ENGAGING THEIR 7801 05:06:31,040 --> 05:06:31,440 PATIENT COMMUNITY. 7802 05:06:31,440 --> 05:06:32,240 AND WE STILL HAVE A LONG WAY TO 7803 05:06:32,240 --> 05:06:32,560 GO. 7804 05:06:32,560 --> 05:06:34,640 WE ARE STILL LOOKING FOR 7805 05:06:34,640 --> 05:06:35,760 PATIENTS EVERY DAY. 7806 05:06:35,760 --> 05:06:38,800 BUT WE KNOW THAT SEEMS WE HAVE 7807 05:06:38,800 --> 05:06:40,040 THESE NEWLY DIAGNOSED PATIENTS 7808 05:06:40,040 --> 05:06:41,920 COME TO US AND THEY AND THEIR 7809 05:06:41,920 --> 05:06:44,080 FAMILIES ARE OVERWHELMED AND 7810 05:06:44,080 --> 05:06:45,520 LOST AND THEY DON'T KNOW WHAT TO 7811 05:06:45,520 --> 05:06:45,680 DO. 7812 05:06:45,680 --> 05:06:46,240 AND I THINK IT'S REALLY 7813 05:06:46,240 --> 05:06:48,680 IMPORTANT FOR THEM TO KNOW THAT 7814 05:06:48,680 --> 05:06:50,720 THERE ARE THESE SMALL STEPS THEY 7815 05:06:50,720 --> 05:06:52,720 CAN TAKE LIKE FILL OUT SURVEYS, 7816 05:06:52,720 --> 05:06:55,080 DONATE SOME BLOOD, SIGN UP FOR 7817 05:06:55,080 --> 05:06:57,160 CITIZEN, ALL OF THAT CAN MOVE 7818 05:06:57,160 --> 05:06:59,880 THE RESEARCH FORWARD AND DEVELOP 7819 05:06:59,880 --> 05:07:01,160 THERAPEUTICS FOR THEIR CHILD'S 7820 05:07:01,160 --> 05:07:02,840 OR FOR THEMSELVES IF THEY ARE 7821 05:07:02,840 --> 05:07:03,640 THE PATIENT. 7822 05:07:03,640 --> 05:07:05,280 WE KNOW THAT EVERY PATIENT 7823 05:07:05,280 --> 05:07:07,800 COUNTS IN THE RARE DISEASE 7824 05:07:07,800 --> 05:07:08,040 COMMUNITY. 7825 05:07:08,040 --> 05:07:11,760 EVERY PATIENT CAN ABSOLUTELY 7826 05:07:11,760 --> 05:07:12,120 PLAY THEIR PART. 7827 05:07:12,120 --> 05:07:14,640 SO I WANTED TO JUST END BY 7828 05:07:14,640 --> 05:07:15,920 THANKING NIH AND N CATS FOR 7829 05:07:15,920 --> 05:07:17,320 HOSTING THIS EVENT AND THE 7830 05:07:17,320 --> 05:07:19,880 INVITATION TO SPEAK. 7831 05:07:19,880 --> 05:07:23,800 NINDS FOR FUNDING A LOT OF THE 7832 05:07:23,800 --> 05:07:28,320 RESEARCH THAT COVERS THE SPOKE 7833 05:07:28,320 --> 05:07:31,320 OF THESE DISORDERS AND A GRANT 7834 05:07:31,320 --> 05:07:32,120 TO THE FOUNDATION WHICH ALLOWED 7835 05:07:32,120 --> 05:07:34,160 THEM TO BRING ME ON TO THEIR 7836 05:07:34,160 --> 05:07:34,360 TEAM. 7837 05:07:34,360 --> 05:07:35,760 THANK YOU TO THE FOUNDATION 7838 05:07:35,760 --> 05:07:37,680 BOARD, OUR SCIENTIFIC ADVISORY 7839 05:07:37,680 --> 05:07:38,680 BOARD AND OUR RESEARCH NETWORK 7840 05:07:38,680 --> 05:07:40,760 FOR GETTING US CLOSER TO 7841 05:07:40,760 --> 05:07:41,480 TREATMENTS EVERY DAY. 7842 05:07:41,480 --> 05:07:44,520 OUR WEBSITE IS ALSO UP THERE AS 7843 05:07:44,520 --> 05:07:44,720 WELL. 7844 05:07:44,720 --> 05:07:46,440 UNDER THAT IS OUR GENERAL E-MAIL 7845 05:07:46,440 --> 05:07:48,520 BUT MINE IS UP THERE AS WELL. 7846 05:07:48,520 --> 05:07:50,080 REACH OUT ANY TIME. 7847 05:07:50,080 --> 05:07:51,800 WE WOULD LOVE TO CONNECT WITH 7848 05:07:51,800 --> 05:07:52,840 PEOPLE AND FAMILIES AND OTHER 7849 05:07:52,840 --> 05:07:54,040 PATIENT ADVOCACY GROUPS BECAUSE 7850 05:07:54,040 --> 05:07:55,840 THEY ARE SOMETIMES THE BEST 7851 05:07:55,840 --> 05:07:57,080 RESOURCES TO HAVE. 7852 05:07:57,080 --> 05:07:58,920 WE ALSO HAVE A BOOTH SO STOP BY. 7853 05:07:58,920 --> 05:08:01,240 AND LASTLY, THANK YOU TO OUR 7854 05:08:01,240 --> 05:08:02,600 COMMUNITY FOR ALL THEY HAVE 7855 05:08:02,600 --> 05:08:03,040 DONE. 7856 05:08:03,040 --> 05:08:06,240 THEY ARE THE REASON WE ARE HERE. 7857 05:08:06,240 --> 05:08:07,320 >> THANK YOU FOR SHARING YOUR 7858 05:08:07,320 --> 05:08:10,120 STORY AND LETTING US KNOW ALL 7859 05:08:10,120 --> 05:08:10,920 ABOUT YOUR FOUNDATION. 7860 05:08:10,920 --> 05:08:13,080 NEXT UP IS ANOTHER RARE STORY. 7861 05:08:13,080 --> 05:08:14,880 THIS ONE IS TITLED, CREATING 7862 05:08:14,880 --> 05:08:16,320 YOUR NATURAL HISTORY STUDY. 7863 05:08:16,320 --> 05:08:18,080 AND WE'RE GOING TO HEAR FROM 7864 05:08:18,080 --> 05:08:19,800 NASHA FITTER WHO IS A RARE 7865 05:08:19,800 --> 05:08:21,480 DISEASE CAREGIVER AND ALSO THE 7866 05:08:21,480 --> 05:08:25,000 CO-FOUNDER AND CEO OF FOX G1 7867 05:08:25,000 --> 05:08:26,000 RESEARCH FOUNDATION. 7868 05:08:26,000 --> 05:08:28,000 SHE ALSO SERVES AS THE 7869 05:08:28,000 --> 05:08:29,960 VICE PRESIDENT OF REAL WORLD 7870 05:08:29,960 --> 05:08:33,240 EVIDENCE AND THE CITIZEN 7871 05:08:33,240 --> 05:08:34,720 PLATFORM INVITAE. 7872 05:08:34,720 --> 05:08:37,240 >>THANK YOU FOR INVITING ME, 7873 05:08:37,240 --> 05:08:39,640 ALLISON, THE NIH TEAM. 7874 05:08:39,640 --> 05:08:40,320 IT'S REALLY WONDERFUL TO BE HERE 7875 05:08:40,320 --> 05:08:42,920 AND I HAVE TO SAY THAT 7876 05:08:42,920 --> 05:08:44,880 PRESENTATION BEFORE US, PANGKONG 7877 05:08:44,880 --> 05:08:46,880 FOX, THE FOUNDATION HASN'T BEEN 7878 05:08:46,880 --> 05:08:48,240 AROUND VERY LONG IF YOU LOOK AT 7879 05:08:48,240 --> 05:08:49,640 THE MULTITUDE OF WORK THEY HAVE 7880 05:08:49,640 --> 05:08:50,840 DONE. 7881 05:08:50,840 --> 05:08:53,240 IF YOU'RE A NEW RARE DISEASE 7882 05:08:53,240 --> 05:08:54,160 PARENT -- I REMEMBER COMING TO 7883 05:08:54,160 --> 05:08:55,880 THIS PARENT WHEN I WAS ONE. 7884 05:08:55,880 --> 05:08:57,240 THAT IS THE ROADMAP TO REALLY 7885 05:08:57,240 --> 05:08:57,680 FOLLOW. 7886 05:08:57,680 --> 05:09:00,080 SO IT'S JUST LIKE AN AMAZING 7887 05:09:00,080 --> 05:09:00,640 JOB. 7888 05:09:00,640 --> 05:09:04,920 SO I WORK AT CITIZEN WHICH IS 7889 05:09:04,920 --> 05:09:06,760 NOW INVITAE AND I'M THE 7890 05:09:06,760 --> 05:09:07,280 CO-FOUNDER OF THE FOX G1 7891 05:09:07,280 --> 05:09:09,600 RESEARCH FOUNDATION. 7892 05:09:09,600 --> 05:09:11,040 SO THE REASON I DO THIS IS 7893 05:09:11,040 --> 05:09:14,040 BECAUSE OF MY DAUGHTER, AMARA, 7894 05:09:14,040 --> 05:09:15,480 AND LIKE MANY OF US. 7895 05:09:15,480 --> 05:09:17,680 SO HERE ON THIS SIDE OF THE -- 7896 05:09:17,680 --> 05:09:22,520 ON THE RIGHT SIDE IS HER AT 7897 05:09:22,520 --> 05:09:23,160 6-MONTH-OLD WHICH SHE BEGAN 7898 05:09:23,160 --> 05:09:23,560 HAVING SEIZURES. 7899 05:09:23,560 --> 05:09:25,440 SHORTLY AFTER, WE RECEIVED THE 7900 05:09:25,440 --> 05:09:28,040 DIAGNOSIS THAT SHE HAS FOX G1 7901 05:09:28,040 --> 05:09:28,320 SYNDROME. 7902 05:09:28,320 --> 05:09:30,240 THE PICTURE ON THE OTHER SIDE IS 7903 05:09:30,240 --> 05:09:31,720 THREE MONTHS AGO WHEN SHE WENT 7904 05:09:31,720 --> 05:09:33,520 THROUGH A PERIOD OF -- BASICALLY 7905 05:09:33,520 --> 05:09:34,960 MEANS IT'S A NEVER ENDING 7906 05:09:34,960 --> 05:09:36,320 SEIZURE AND YOUR CHILD NEEDS TO 7907 05:09:36,320 --> 05:09:38,000 BE PUT IN AN INDUCED COMA. 7908 05:09:38,000 --> 05:09:39,400 SO THEY DON'T DIE. 7909 05:09:39,400 --> 05:09:40,880 AND THAT WAS ONE OF THE WORST 7910 05:09:40,880 --> 05:09:43,400 EXPERIENCES OF MY LIFE AND THAT 7911 05:09:43,400 --> 05:09:45,320 PICTURE IN THE MIDDLE IS HER 7912 05:09:45,320 --> 05:09:46,200 JUST LAST WEEK ON HER 7th 7913 05:09:46,200 --> 05:09:46,920 BIRTHDAY. 7914 05:09:46,920 --> 05:09:49,040 AND THIS IS THE PICTURE -- 7915 05:09:49,040 --> 05:09:53,640 [ APPLAUSE ] 7916 05:09:53,640 --> 05:09:54,400 THANK YOU. 7917 05:09:54,400 --> 05:09:56,480 THIS IS THE GIRL THAT KEEPS ME 7918 05:09:56,480 --> 05:09:58,000 GOING AND PUSHES ME TO WORK 7919 05:09:58,000 --> 05:10:00,600 HARDER EVERY DAY TO FIND A CURE 7920 05:10:00,600 --> 05:10:01,040 TO TREATMENT. 7921 05:10:01,040 --> 05:10:03,120 AND SO, I'M NOT DOING THIS ALONE 7922 05:10:03,120 --> 05:10:04,640 AND ONE THING I TELL ALL RARE 7923 05:10:04,640 --> 05:10:06,760 DISEASE ADVOCATES IS THIS IS A 7924 05:10:06,760 --> 05:10:07,040 TEAM EFFORT. 7925 05:10:07,040 --> 05:10:08,680 I DON'T HAVE A SCIENTIFIC 7926 05:10:08,680 --> 05:10:09,400 BACKGROUND. 7927 05:10:09,400 --> 05:10:10,680 I DON'T HAVE A MEDICAL 7928 05:10:10,680 --> 05:10:10,960 BACKGROUND. 7929 05:10:10,960 --> 05:10:13,800 BUT FOR ALL OF US, WE ALL HAVE A 7930 05:10:13,800 --> 05:10:16,080 BACKGROUND AND THE GOAL IS TO 7931 05:10:16,080 --> 05:10:16,720 USE YOUR BACKGROUND AND TO BRING 7932 05:10:16,720 --> 05:10:17,880 THE QUALITIES YOU HAVE FORWARD 7933 05:10:17,880 --> 05:10:19,480 AND BUILD THE TEAM AROUND YOU TO 7934 05:10:19,480 --> 05:10:21,320 SUPPLEMENT WHAT YOU DON'T HAVE. 7935 05:10:21,320 --> 05:10:24,560 SO THIS IS OUR CLOSING TEAM OF 7936 05:10:24,560 --> 05:10:26,120 SCIENTISTS, OF PARENTS, 7937 05:10:26,120 --> 05:10:27,720 CLINICIANS AND WE WORKED 7938 05:10:27,720 --> 05:10:28,360 TOGETHER OVER THE LAST NOW FIVE 7939 05:10:28,360 --> 05:10:30,600 YEARS TO REALLY BUILD OUR 7940 05:10:30,600 --> 05:10:31,920 FOUNDATION AND TO DO THE WORK. 7941 05:10:31,920 --> 05:10:34,400 AND SO, WE HAVE DONE ALL OF 7942 05:10:34,400 --> 05:10:35,480 THESE DIFFERENT THINGS SO MANY 7943 05:10:35,480 --> 05:10:35,760 OF YOU DO. 7944 05:10:35,760 --> 05:10:37,880 THE HARDEST ONE DEFINITELY BEING 7945 05:10:37,880 --> 05:10:39,520 RAISING MONEY AND HAPPY TO TALK 7946 05:10:39,520 --> 05:10:41,000 TO ANYONE ABOUT TIPS ON THAT 7947 05:10:41,000 --> 05:10:41,200 LATER. 7948 05:10:41,200 --> 05:10:43,440 SO OUR FOUNDATION IS FOCUSED IN 7949 05:10:43,440 --> 05:10:45,240 THREE AREAS AND IT DOESN'T MEAN 7950 05:10:45,240 --> 05:10:46,280 IF YOU'RE AN ADVOCATE YOU HAVE 7951 05:10:46,280 --> 05:10:47,760 TO FOCUS ON ALL THREE AREAS. 7952 05:10:47,760 --> 05:10:49,000 THIS IS WHAT WE HAVE DONE. 7953 05:10:49,000 --> 05:10:50,800 SO ONE IS THE SCIENCE. 7954 05:10:50,800 --> 05:10:53,360 THAT'S A BIG PART OF THE FUNDING 7955 05:10:53,360 --> 05:10:55,920 OF GRANTS AND SCIENTISTS, 7956 05:10:55,920 --> 05:10:56,440 TRANSLATIONAL WORK, BASIC 7957 05:10:56,440 --> 05:10:56,760 SCIENCE WORK. 7958 05:10:56,760 --> 05:10:58,280 THEN WE TAKE CARE OF OUR 7959 05:10:58,280 --> 05:10:58,560 COMMUNITY. 7960 05:10:58,560 --> 05:11:00,800 WE DIDN'T PLAN TO DO THAT BUT WE 7961 05:11:00,800 --> 05:11:02,440 REALIZED WE HAD TO DO THAT. 7962 05:11:02,440 --> 05:11:03,800 WE DO A LOT OF EVENTS AND 7963 05:11:03,800 --> 05:11:06,160 DIFFERENT THINGS FOR OUR PATIENT 7964 05:11:06,160 --> 05:11:07,000 COMMUNITY AND THE THIRD AND WHAT 7965 05:11:07,000 --> 05:11:08,600 I'LL BE TALKING TO YOU ABOUT 7966 05:11:08,600 --> 05:11:09,200 TODAY IS DATA. 7967 05:11:09,200 --> 05:11:11,240 DATA IS SO CRITICAL. 7968 05:11:11,240 --> 05:11:12,640 YOU CAN NOT CREATE A DRUG 7969 05:11:12,640 --> 05:11:13,880 WITHOUT PATIENT DATA AND REALLY 7970 05:11:13,880 --> 05:11:15,240 DEEP CLINICAL DATA. 7971 05:11:15,240 --> 05:11:17,520 AND HOW DO YOU DO THAT? 7972 05:11:17,520 --> 05:11:19,080 SO, THIS IS SOMETHING THAT I 7973 05:11:19,080 --> 05:11:20,320 KEPT HEARING FROM BIOPHARMA 7974 05:11:20,320 --> 05:11:21,840 COMPANIES WHEN I STARTED THIS 7975 05:11:21,840 --> 05:11:22,080 PROCESS. 7976 05:11:22,080 --> 05:11:23,800 THAT IF YOU DON'T DO ANYTHING 7977 05:11:23,800 --> 05:11:25,560 ELSE, JUST DO A NATURAL HISTORY 7978 05:11:25,560 --> 05:11:26,320 STUDY. 7979 05:11:26,320 --> 05:11:27,240 AND SO THEN I STARTED TRYING TO 7980 05:11:27,240 --> 05:11:28,520 FIGURE OUT, THAT SOUNDS FUN. 7981 05:11:28,520 --> 05:11:30,200 HOW DO WE DO A NATURAL HISTORY 7982 05:11:30,200 --> 05:11:30,400 STUDY? 7983 05:11:30,400 --> 05:11:32,160 AND I LEARNED THAT IT'S ACTUALLY 7984 05:11:32,160 --> 05:11:34,880 A PRETTY BIG PAIN FOR RARE 7985 05:11:34,880 --> 05:11:37,000 DISEASES, ESPECIALLY ULTRARARE 7986 05:11:37,000 --> 05:11:37,640 DISEASES. 7987 05:11:37,640 --> 05:11:39,800 YOU HAVE TO STAND UP A CLINICAL 7988 05:11:39,800 --> 05:11:41,800 SITE AND ACADEMIC CENTER, STAND 7989 05:11:41,800 --> 05:11:43,480 UP USUALLY MORE THAN ONCE. 7990 05:11:43,480 --> 05:11:45,480 THIS COSTS YOU MILLIONS OF 7991 05:11:45,480 --> 05:11:45,720 DOLLARS. 7992 05:11:45,720 --> 05:11:47,440 IF YOU'RE AN ULTRARARE DISEASE, 7993 05:11:47,440 --> 05:11:49,480 YOU HAVE A FEW HUNDRED PATIENTS 7994 05:11:49,480 --> 05:11:51,160 IF YOU'RE LUCKY. 7995 05:11:51,160 --> 05:11:51,800 HOW MANY ARE GOING TO TRAVEL TO 7996 05:11:51,800 --> 05:11:55,160 ONE OF THESE ACADEMIC SITES AND 7997 05:11:55,160 --> 05:11:55,800 THEN CONTINUE TO TRAVEL TO THESE 7998 05:11:55,800 --> 05:11:58,200 SITES EVERY 3 MONTHS, 6 MONTHS, 7999 05:11:58,200 --> 05:11:58,480 ONE YEAR? 8000 05:11:58,480 --> 05:12:00,040 SO YOU END UP HAVING PATIENTS 8001 05:12:00,040 --> 05:12:00,920 THAT START AND END UP DROPPING 8002 05:12:00,920 --> 05:12:01,120 OUT. 8003 05:12:01,120 --> 05:12:04,120 YOU GOT DATA WAY LOT OF HOLES IN 8004 05:12:04,120 --> 05:12:04,280 IT. 8005 05:12:04,280 --> 05:12:06,560 MY DAUGHTER WAS A PART OF A 8006 05:12:06,560 --> 05:12:09,760 NATURAL HISTORY STUDY AND WHAT I 8007 05:12:09,760 --> 05:12:11,000 REALIZED DURING THAT PROCESS, WE 8008 05:12:11,000 --> 05:12:14,240 ONLY WENT TO THE FIRST TWO 8009 05:12:14,240 --> 05:12:15,240 APPOINTMENTS, IS THAT ALL OF THE 8010 05:12:15,240 --> 05:12:16,400 QUESTIONS I WAS BEING ASKED WERE 8011 05:12:16,400 --> 05:12:18,360 THE SAME ONES THAT I WAS ALREADY 8012 05:12:18,360 --> 05:12:20,240 TALKING TO MY NEUROLOGIST ABOUT 8013 05:12:20,240 --> 05:12:22,000 EVERY TIME I TOOK HER FOR AN 8014 05:12:22,000 --> 05:12:22,280 APPOINTMENT. 8015 05:12:22,280 --> 05:12:24,160 WHICH IS DEFINITELY A MINIMUM OF 8016 05:12:24,160 --> 05:12:25,040 EVERY SIX MONTHS BECAUSE WE NEED 8017 05:12:25,040 --> 05:12:26,480 THAT TO GET OUR THERAPIES 8018 05:12:26,480 --> 05:12:26,960 APPROVED. 8019 05:12:26,960 --> 05:12:28,400 SO I JUST THOUGHT, WHY DON'T WE 8020 05:12:28,400 --> 05:12:30,400 JUST GET ALL OUR MEDICAL RECORDS 8021 05:12:30,400 --> 05:12:32,720 AND PULL THE INFORMATION 8022 05:12:32,720 --> 05:12:33,600 TOGETHER. 8023 05:12:33,600 --> 05:12:34,240 MY BACKGROUND, THIS IS WHERE MY 8024 05:12:34,240 --> 05:12:35,120 BACKGROUND CAME OUT. 8025 05:12:35,120 --> 05:12:37,760 I HAVE A TECH BACKGROUND, 8026 05:12:37,760 --> 05:12:38,160 ENTREPRENEURIAL. 8027 05:12:38,160 --> 05:12:39,200 I SAID LET ME USE THAT TO TRY TO 8028 05:12:39,200 --> 05:12:40,880 SOLVE THIS PROBLEM. 8029 05:12:40,880 --> 05:12:44,000 SO I WAS LUCKY, VERY LUCKY, I 8030 05:12:44,000 --> 05:12:45,560 FOUND A START-UP AT THE TIME 8031 05:12:45,560 --> 05:12:46,440 CALLED CITIZEN THAT WAS NEAR 8032 05:12:46,440 --> 05:12:48,440 WHERE I LIVED IN NORTHERN 8033 05:12:48,440 --> 05:12:48,760 CALIFORNIA. 8034 05:12:48,760 --> 05:12:50,000 AND CITIZEN AT THE TIME WAS 8035 05:12:50,000 --> 05:12:51,840 FOCUSED ON CANCER PATIENTS. 8036 05:12:51,840 --> 05:12:53,160 BREAST CANCER PATIENTS. 8037 05:12:53,160 --> 05:12:56,480 AND THE IDEA WAS HEY, LET'S USE 8038 05:12:56,480 --> 05:12:58,040 PATIENT'S OWN HIPPA RIGHT OF 8039 05:12:58,040 --> 05:13:00,680 ACCESS, SO ALL OF US HADED RIGHT 8040 05:13:00,680 --> 05:13:02,680 FEDERALLY TO COLLECT THE 8041 05:13:02,680 --> 05:13:03,480 ENTIRETY OF OUR MEDICAL RECORDS. 8042 05:13:03,480 --> 05:13:05,920 AND I KNOW MANY OF YOU MAY SAY I 8043 05:13:05,920 --> 05:13:06,360 HAVE A PATIENT PORTAL. 8044 05:13:06,360 --> 05:13:08,200 YOUR PATIENT PORTAL DOES NOT 8045 05:13:08,200 --> 05:13:09,040 HAVE THE ENTIRETY OF YOUR 8046 05:13:09,040 --> 05:13:11,320 MEDICAL RECORDS T DOES NOT HAVE 8047 05:13:11,320 --> 05:13:13,000 ALL YOUR CLINICAL NOTES, OR MRI 8048 05:13:13,000 --> 05:13:14,040 IMAGES. 8049 05:13:14,040 --> 05:13:14,960 IF YOU'RE A HEALTHY PERSON 8050 05:13:14,960 --> 05:13:15,240 THAT'S FINE. 8051 05:13:15,240 --> 05:13:16,520 WHAT IS IN YOUR PORTAL IS 8052 05:13:16,520 --> 05:13:17,200 ENOUGH. 8053 05:13:17,200 --> 05:13:19,320 BUT IF YOU'RE NOT, YOU NEED ALL 8054 05:13:19,320 --> 05:13:21,360 THE REST OF THAT INFORMATION. 8055 05:13:21,360 --> 05:13:22,600 SO WHAT CITIZEN DOES, IT USES 8056 05:13:22,600 --> 05:13:25,320 THE PATIENT'S HIPPA RIGHT OF 8057 05:13:25,320 --> 05:13:26,680 ACCESS TO GO TO EVERY SINGLE 8058 05:13:26,680 --> 05:13:27,800 INSTITUTION YOU HAVE BEEN SEEN 8059 05:13:27,800 --> 05:13:29,520 AND REQUEST THE ENTIRETY OF YOUR 8060 05:13:29,520 --> 05:13:31,000 MEDICAL RECORD AND SCANS THOSE 8061 05:13:31,000 --> 05:13:31,840 DOCUMENTS AND FIRST AND FOREMOST 8062 05:13:31,840 --> 05:13:35,160 PROVIDES IT BACK TO PATIENTS 8063 05:13:35,160 --> 05:13:36,120 BECAUSE THE PATIENTS DESERVE 8064 05:13:36,120 --> 05:13:36,480 THEIR OWN DATA. 8065 05:13:36,480 --> 05:13:37,360 YOU HAVE YOUR OWN DATA. 8066 05:13:37,360 --> 05:13:39,560 YOU CAN DOWNLOAD IT, SHARE IT, 8067 05:13:39,560 --> 05:13:40,160 DO WHATEVER YOU WANT WITH IT. 8068 05:13:40,160 --> 05:13:41,520 IT'S YOUR DATA. 8069 05:13:41,520 --> 05:13:43,240 AND THEN WHAT THE COMPANY DOES 8070 05:13:43,240 --> 05:13:45,280 ON THE BACK END IS WHAT I HAD 8071 05:13:45,280 --> 05:13:47,560 THOUGHT WAS THE PERFECT IDEA FOR 8072 05:13:47,560 --> 05:13:48,640 RARE DISEASES FOR NATURAL 8073 05:13:48,640 --> 05:13:51,000 HISTORY STUDIES, WHICH IS CREATE 8074 05:13:51,000 --> 05:13:54,800 A DISEASE ONTOLOGY AND THEN 8075 05:13:54,800 --> 05:13:55,400 EXTRACT ENDPOINTS AND NORMALIZE 8076 05:13:55,400 --> 05:13:57,720 THE DATA AND THEN MAKE THAT 8077 05:13:57,720 --> 05:13:59,400 AVAILABLE TO EVERYONE. 8078 05:13:59,400 --> 05:14:02,080 PATIENTS, ADVOCACY GROUPS, 8079 05:14:02,080 --> 05:14:04,840 RESEARCHERS, BIOPHARMACEUTICAL 8080 05:14:04,840 --> 05:14:05,480 COMPANIES, EVERYONE HAS TO WORK 8081 05:14:05,480 --> 05:14:06,280 TOGETHER TO CURE A DISEASE. 8082 05:14:06,280 --> 05:14:08,280 NO ONE PARTY IS MORE IMPORTANT 8083 05:14:08,280 --> 05:14:08,640 THAN ANOTHER. 8084 05:14:08,640 --> 05:14:09,680 SO THIS IS A VERY PICTORIAL 8085 05:14:09,680 --> 05:14:11,200 EXAMPLE OF EXACTLY WHAT I MEAN. 8086 05:14:11,200 --> 05:14:12,920 SO HERE IS A RICH CLINIC NOTE. 8087 05:14:12,920 --> 05:14:15,160 THIS NOTE IS FILLED WITH REALLY 8088 05:14:15,160 --> 05:14:16,960 IMPORTANT INFORMATION BUT IT'S 8089 05:14:16,960 --> 05:14:18,360 COMPLETELY UNSTRUCTURED. 8090 05:14:18,360 --> 05:14:20,760 SO WHAT CITIZEN DOES, LITERALLY 8091 05:14:20,760 --> 05:14:22,800 GO THROUGH THIS AND TAKE OUT 8092 05:14:22,800 --> 05:14:24,400 POINTS THAT THEN GET NORMALIZED. 8093 05:14:24,400 --> 05:14:27,520 SO IF YOU LOOK AT THE SECOND 8094 05:14:27,520 --> 05:14:28,680 PARAGRAPH, DECREASED TONE 8095 05:14:28,680 --> 05:14:29,800 THROUGHOUT. 8096 05:14:29,800 --> 05:14:31,840 THAT GETS NORMALIZED TO 8097 05:14:31,840 --> 05:14:33,440 GENERALIZE HYPE TONIA, THIS IS 8098 05:14:33,440 --> 05:14:35,520 USING A TERMINOLOGY SYSTEM 8099 05:14:35,520 --> 05:14:36,880 CALLED SNOMED. 8100 05:14:36,880 --> 05:14:38,960 IT'S NOT USING ICD10 AND 9 8101 05:14:38,960 --> 05:14:40,280 CODES, WHICH ARE GREAT FOR 8102 05:14:40,280 --> 05:14:41,960 BILLING PURPOSES BUT NOT WHEN 8103 05:14:41,960 --> 05:14:43,720 YOU'RE TRYING TO TYPE A 8104 05:14:43,720 --> 05:14:44,240 CONDITION. 8105 05:14:44,240 --> 05:14:46,520 THESE TERMINOLOGIES ARE GREAT TO 8106 05:14:46,520 --> 05:14:47,880 DESCRIBE CONDITIONS TO DESCRIBE 8107 05:14:47,880 --> 05:14:48,520 DISEASES. 8108 05:14:48,520 --> 05:14:50,720 SNOMED ALSO JUST AMAZING AND 8109 05:14:50,720 --> 05:14:52,000 ALLOWS FOR HIERARCHAL 8110 05:14:52,000 --> 05:14:52,960 RELATIONSHIPS AND ALL TYPES OF 8111 05:14:52,960 --> 05:14:55,200 DIFFERENT THINGS THAT,TA ALLOW 8112 05:14:55,200 --> 05:14:56,880 FOR GENOTYPE AND PHENOTYPING. 8113 05:14:56,880 --> 05:14:58,520 THIS IS AN EXAMPLE OF ONTOLOGY. 8114 05:14:58,520 --> 05:14:59,720 WHAT WAS IMPORTANT WHEN WE 8115 05:14:59,720 --> 05:15:02,640 CREATED THIS IS WE WERE LOOKING 8116 05:15:02,640 --> 05:15:05,040 FOR ENTITIES THAT SHOW DISEASE 8117 05:15:05,040 --> 05:15:06,000 PROGRESSION AND ENTITIES THAT 8118 05:15:06,000 --> 05:15:07,240 COULD BE MEASURED IN A CLINICAL 8119 05:15:07,240 --> 05:15:08,360 TRIAL. 8120 05:15:08,360 --> 05:15:08,960 SO THINGS THAT YOU CAN MEASURE 8121 05:15:08,960 --> 05:15:12,480 IN THREE MONTHS, SIX MONTHS AND 8122 05:15:12,480 --> 05:15:12,800 NINE MONKS. 8123 05:15:12,800 --> 05:15:15,480 THE END GOAL IS HOW ARE WE GOING 8124 05:15:15,480 --> 05:15:16,000 TO USE THIS DATA FOR DRUG 8125 05:15:16,000 --> 05:15:17,720 DEVELOPMENT AND ACCELERATE DRUG 8126 05:15:17,720 --> 05:15:18,000 DEVELOPMENT? 8127 05:15:18,000 --> 05:15:20,240 SO HERE IS AN EXAMPLE OF A 8128 05:15:20,240 --> 05:15:23,760 PATIENT WITH STXBP1 DISORDER. 8129 05:15:23,760 --> 05:15:24,560 A SINGLE PATIENT. 8130 05:15:24,560 --> 05:15:27,640 YOU SEE THIS PATIENT COMING IN 8131 05:15:27,640 --> 05:15:28,680 AT ZERO. 8132 05:15:28,680 --> 05:15:29,520 THEY CAME INTO THE HOSPITAL. 8133 05:15:29,520 --> 05:15:31,520 THEY HAD EPILEPSY. 8134 05:15:31,520 --> 05:15:33,160 PUT ON PHENOBARBITAL. 8135 05:15:33,160 --> 05:15:36,520 CONTINUE ON AND HAVE GLOBAL 8136 05:15:36,520 --> 05:15:37,000 DEVELOPMENTAL DELAYS. 8137 05:15:37,000 --> 05:15:37,640 YOU HAVE MORE SYMPTOMS AND THEN 8138 05:15:37,640 --> 05:15:39,080 THEY HAVE A CLUSTER OF HOSPITAL 8139 05:15:39,080 --> 05:15:40,680 VISITS, CLUSTER OF E. 8140 05:15:40,680 --> 05:15:44,040 Gs AND PUTTA A HOST OF 8141 05:15:44,040 --> 05:15:44,320 MEDICATIONS. 8142 05:15:44,320 --> 05:15:45,760 AFTER THAT, THIS IS AFTERTWO 8143 05:15:45,760 --> 05:15:48,080 YEARS, THEY FINALLY GET THEIR 8144 05:15:48,080 --> 05:15:51,720 GENETIC DISORDER AND THEN WE SEE 8145 05:15:51,720 --> 05:15:52,760 THAT THEIR SEIZURES BASICALLY 8146 05:15:52,760 --> 05:15:53,040 DISSIPATE. 8147 05:15:53,040 --> 05:15:54,920 NOW WHEN YOU LOOK AT AN 8148 05:15:54,920 --> 05:15:55,680 INDIVIDUAL PATIENT YOU GET A 8149 05:15:55,680 --> 05:15:58,480 GOOD IDEA OF THEIR DISEASE 8150 05:15:58,480 --> 05:15:59,960 PROGRESSION AND DIFFERENT 8151 05:15:59,960 --> 05:16:00,760 CLINICAL SYMPTOMS BUT YOU KIND 8152 05:16:00,760 --> 05:16:03,120 OF -- IT POSES SOME INTERESTING 8153 05:16:03,120 --> 05:16:03,360 QUESTIONS. 8154 05:16:03,360 --> 05:16:05,400 DID THE SEIZURES STOP BECAUSE IN 8155 05:16:05,400 --> 05:16:07,920 THIS DISEASE SEIZURES REMIT 8156 05:16:07,920 --> 05:16:08,520 AFTER A CERTAIN AGE OR DUE TO 8157 05:16:08,520 --> 05:16:11,000 THE DRUGS THEY WERE TAKING OR 8158 05:16:11,000 --> 05:16:11,520 WAS THERE SOMETHING ELSE? 8159 05:16:11,520 --> 05:16:12,160 SO THEN YOU START PUTTING MORE 8160 05:16:12,160 --> 05:16:14,200 AND MORE PATIENT DATA ON TO THIS 8161 05:16:14,200 --> 05:16:20,080 TO ANSWER THOSE QUESTIONS. 8162 05:16:20,080 --> 05:16:20,480 HERE IS AN EXAMPLE. 8163 05:16:20,480 --> 05:16:22,600 SO PANGKONG FOX TALKED ABOUT 8164 05:16:22,600 --> 05:16:23,120 PHENOTYPING. 8165 05:16:23,120 --> 05:16:24,520 WE FOUND THIS REALLY IMPORTANT 8166 05:16:24,520 --> 05:16:26,560 FOR FOX G1 GENES. 8167 05:16:26,560 --> 05:16:28,360 WE HAVE SUCH A SPECTRUM OF 8168 05:16:28,360 --> 05:16:30,160 PHENOTYPES AND WHAT WE WERE ABLE 8169 05:16:30,160 --> 05:16:32,200 TO DO WITH THIS DATA IS LOOK AT 8170 05:16:32,200 --> 05:16:34,240 OUR PATIENT POPULATION, LOOK AT 8171 05:16:34,240 --> 05:16:36,360 MUTATIONS ON WHERE THEY FALL 8172 05:16:36,360 --> 05:16:38,200 WITHIN THE GENE AND THEN MAP 8173 05:16:38,200 --> 05:16:39,280 THEM TO A SEVERITY SCORE. 8174 05:16:39,280 --> 05:16:40,600 THIS IS HELPING US FIGURE OUT 8175 05:16:40,600 --> 05:16:42,120 WHICH THERAPIES ARE GOING TO BE 8176 05:16:42,120 --> 05:16:44,080 BEST SUITED FOR DIFFERENT 8177 05:16:44,080 --> 05:16:44,840 PATIENTS. 8178 05:16:44,840 --> 05:16:45,520 THIS IS ALSO GOING TO HELP US IN 8179 05:16:45,520 --> 05:16:47,520 A CLINICAL TRIAL TO KNOW WHICH 8180 05:16:47,520 --> 05:16:48,840 ARE THE PATIENTS THAT ARE GOING 8181 05:16:48,840 --> 05:16:53,560 TO REACT MORE FAVORABLY TO A 8182 05:16:53,560 --> 05:16:54,480 PARTICULAR DRUG? 8183 05:16:54,480 --> 05:16:55,080 ALL RIGHT, SO THIS IS ALL GREAT 8184 05:16:55,080 --> 05:16:57,640 WORK AND I STARTED DOING THIS 8185 05:16:57,640 --> 05:16:59,560 WITH CITIZEN SO WE COULD HAVE A 8186 05:16:59,560 --> 05:17:01,720 HISTORY STUDY FOR FOX G1 AND 8187 05:17:01,720 --> 05:17:02,520 THEN WE BROUGHT IN MORE GROUPS. 8188 05:17:02,520 --> 05:17:05,160 WE HAD A SMALL PILOT AND GOT A 8189 05:17:05,160 --> 05:17:08,840 GRANT FROM CZI THAT FAIRY GOD 8190 05:17:08,840 --> 05:17:10,440 MOTHERRERS FOR ALL OF US AND WE 8191 05:17:10,440 --> 05:17:10,880 GOT THIS WORK DONE. 8192 05:17:10,880 --> 05:17:14,000 WHAT WAS VERY EXCITING FOR US IS 8193 05:17:14,000 --> 05:17:15,080 PRACTICE PRECISION MEDICINE, 8194 05:17:15,080 --> 05:17:18,840 THEY HAVE CEO WHO IS A VISIONARY 8195 05:17:18,840 --> 05:17:21,480 AND FELT THAT THE CURRENT WAY WE 8196 05:17:21,480 --> 05:17:22,640 DO THESE IN-PERSON NATURAL 8197 05:17:22,640 --> 05:17:24,080 HISTORY STUDIES DOES NOT WORK 8198 05:17:24,080 --> 05:17:25,520 FOR RARE DISEASES. 8199 05:17:25,520 --> 05:17:26,640 AND HE WANTED TO TAKE A BET ON 8200 05:17:26,640 --> 05:17:27,680 US AND TRY THIS OUT. 8201 05:17:27,680 --> 05:17:31,080 SO WE BUILT A COHORT FOR THIS. 8202 05:17:31,080 --> 05:17:32,560 THEY USED THE DATA AND SUBMITTED 8203 05:17:32,560 --> 05:17:34,160 IT FOR THEIR I IN. 8204 05:17:34,160 --> 05:17:38,120 D APPLICATION WITHIN THEIR IND 8205 05:17:38,120 --> 05:17:38,720 APPLICATION AND THEY THOUGHT 8206 05:17:38,720 --> 05:17:39,560 THEY WOULD NEED SUPPLEMENTAL 8207 05:17:39,560 --> 05:17:40,160 DATA. 8208 05:17:40,160 --> 05:17:42,600 THEY HAD AN IN-PERSON STUDY 8209 05:17:42,600 --> 05:17:43,680 GOING AS WELL BUT IT WAS 8210 05:17:43,680 --> 05:17:45,280 APPROVED BY THE FDA DUE TO THE 8211 05:17:45,280 --> 05:17:46,240 DEPTH OF THE DATA. 8212 05:17:46,240 --> 05:17:47,920 AND THIS COMPLETELY LIKE -- I 8213 05:17:47,920 --> 05:17:49,000 DON'T KNOW HOW TO EXPLAIN HOW 8214 05:17:49,000 --> 05:17:50,200 EXCITING OF A MOMENT THIS WAS, 8215 05:17:50,200 --> 05:17:52,440 THAT THE DATA WAS RICH ENOUGH TO 8216 05:17:52,440 --> 05:17:54,360 PASS THE STANDARD. 8217 05:17:54,360 --> 05:17:56,440 AND THIS SAVED THEM FIVE YEARS. 8218 05:17:56,440 --> 05:17:58,040 SO THIS CLINICAL TRIAL IS 8219 05:17:58,040 --> 05:17:59,480 HAPPENING FIVE YEARS AHEAD OF 8220 05:17:59,480 --> 05:18:01,280 SCHEDULE BECAUSE THEY WERE ABLE 8221 05:18:01,280 --> 05:18:03,440 TO UTILIZE THE DATA. 8222 05:18:03,440 --> 05:18:05,160 I HAVE 5 MINUTES LEFT. 8223 05:18:05,160 --> 05:18:06,520 I HAVE TO GO FAST. 8224 05:18:06,520 --> 05:18:08,880 I'M GOING TO SHOW YOU A COUPLE 8225 05:18:08,880 --> 05:18:09,600 SLIDES OF THE DATA THEY USED IN 8226 05:18:09,600 --> 05:18:10,320 THEIR APPLICATION. 8227 05:18:10,320 --> 05:18:11,760 THE FIRST IS ON THEIR PRIMARY 8228 05:18:11,760 --> 05:18:14,280 ENDPOINT BEING SEIZURES. 8229 05:18:14,280 --> 05:18:17,960 SO IT WAS FOR THIS DISEASE, IT'S 8230 05:18:17,960 --> 05:18:18,720 PRETTY OBVIOUS THE ENDPOINT IS 8231 05:18:18,720 --> 05:18:20,000 GOING TO BE SEIZURES. 8232 05:18:20,000 --> 05:18:21,800 WHAT THEY THOUGHT BASED ON WHAT 8233 05:18:21,800 --> 05:18:23,640 WAS ALREADY PUBLISHED IS THAT 8234 05:18:23,640 --> 05:18:25,960 SEIZURES REMIT AFTER THE AGE OF 8235 05:18:25,960 --> 05:18:26,440 3. 8236 05:18:26,440 --> 05:18:28,000 AS YOU CAN SEE FROM THIS GRAPH, 8237 05:18:28,000 --> 05:18:29,320 THE LITTLE BLACK BARS ARE THE 8238 05:18:29,320 --> 05:18:31,920 END OF MEDICAL RECORD 8239 05:18:31,920 --> 05:18:32,240 COLLECTION. 8240 05:18:32,240 --> 05:18:34,920 YOU CAN SEE THAT IN ALL BUT ONE 8241 05:18:34,920 --> 05:18:37,080 PATIENT, DO SEIZURES REMIT? 8242 05:18:37,080 --> 05:18:38,240 SEIZURES CONTINUE. 8243 05:18:38,240 --> 05:18:39,120 THIS GAVE THEM MORE CONFIDENCE 8244 05:18:39,120 --> 05:18:40,520 THIS WAS A GREAT PRIMARY 8245 05:18:40,520 --> 05:18:41,840 ENDPOINT AND ALLOWED THEM TO 8246 05:18:41,840 --> 05:18:44,800 EXPAND THEIR INCLUSION EXCLUSION 8247 05:18:44,800 --> 05:18:45,080 CRITERIA. 8248 05:18:45,080 --> 05:18:45,880 NEXT IS JUST THINKING ABOUT WHAT 8249 05:18:45,880 --> 05:18:48,400 ARE YOUR EXPLORATORY AND 8250 05:18:48,400 --> 05:18:49,200 SECONDARY ENDPOINTS? 8251 05:18:49,200 --> 05:18:51,400 SO BY LOOKING AT EVERY CLINICAL 8252 05:18:51,400 --> 05:18:53,200 SYMPTOM THAT YOU CAN ACCESS FROM 8253 05:18:53,200 --> 05:18:54,640 YOUR MEDICAL RECORDS, YOU CAN 8254 05:18:54,640 --> 05:18:56,280 START GROUPING THE PERCENTAGE OF 8255 05:18:56,280 --> 05:18:58,440 PATIENTS EXPERIENCING DIFFERENT 8256 05:18:58,440 --> 05:18:58,920 SYMPTOMS. 8257 05:18:58,920 --> 05:18:59,960 THIRD, AND THIS IS MY FAVORITE 8258 05:18:59,960 --> 05:19:02,400 SLIDE OF ALL-TIME, IS BURDEN OF 8259 05:19:02,400 --> 05:19:02,640 DISEASE. 8260 05:19:02,640 --> 05:19:04,280 SO LET'S LOOK AT THIS. 8261 05:19:04,280 --> 05:19:05,840 THESE ARE PATIENTS JUST THEIR 8262 05:19:05,840 --> 05:19:07,440 FIRST YEAR OF LIFE. 8263 05:19:07,440 --> 05:19:09,680 FIRST YEAR OF LIFE THEY ARE ON 8264 05:19:09,680 --> 05:19:10,800 14.5 MEDICATIONS. 8265 05:19:10,800 --> 05:19:13,720 THIS IS LIKE A SMALL BABY, 14.5 8266 05:19:13,720 --> 05:19:14,040 MEDICATIONS. 8267 05:19:14,040 --> 05:19:15,760 THIS SHOWS THAT THEY ARE ON A 8268 05:19:15,760 --> 05:19:16,840 LOT OF MEDICATIONS BUT ALSO NONE 8269 05:19:16,840 --> 05:19:18,680 ARE ACTUALLY WORKING. 8270 05:19:18,680 --> 05:19:20,560 SECOND IS JUST THEIR DIAGNOSTIC 8271 05:19:20,560 --> 05:19:23,480 AND THERAPEUTIC PROCEDURES. 8272 05:19:23,480 --> 05:19:27,600 EEGs, MRIs, 21. 8273 05:19:27,600 --> 05:19:28,600 HOSPITALIZATIONS, 4.3 BUT LOOK 8274 05:19:28,600 --> 05:19:30,480 AT THE DURATION, NUMBER OF DAYS. 8275 05:19:30,480 --> 05:19:33,160 UP TO ABOUT 70 DAYS PER 8276 05:19:33,160 --> 05:19:34,200 HOSPITALIZATION ON AVERAGE FOR 8277 05:19:34,200 --> 05:19:35,280 THESE CHILDREN. 8278 05:19:35,280 --> 05:19:37,400 THIS IS THE SLIDE THAT ALLOWED 8279 05:19:37,400 --> 05:19:39,920 THEM TO REALLY PUSH THE CLINICAL 8280 05:19:39,920 --> 05:19:41,480 TRIAL EVEN THOUGH EVERYONE -- 8281 05:19:41,480 --> 05:19:42,520 NOT EVERYONE BUT IF YOU KNOW 8282 05:19:42,520 --> 05:19:44,200 THIS DISEASE, YOU'RE AWARE THAT 8283 05:19:44,200 --> 05:19:45,920 IT'S A SERIOUS DISEASE BUT UNTIL 8284 05:19:45,920 --> 05:19:47,960 THIS DATA WAS SHOWN SO CLEARLY, 8285 05:19:47,960 --> 05:19:49,920 THIS IS WHAT ALLOWED THE FD TOO. 8286 05:19:49,920 --> 05:19:53,000 LOOK AT THIS AND SAY THIS IS A 8287 05:19:53,000 --> 05:19:53,480 MASSIVE BURDEN. 8288 05:19:53,480 --> 05:19:55,280 YOU HAVE ENOUGH DATA. 8289 05:19:55,280 --> 05:19:56,280 YOU CAN PROCEED TO YOUR CLINICAL 8290 05:19:56,280 --> 05:19:56,480 TRIAL. 8291 05:19:56,480 --> 05:19:57,880 THIS IS WHAT WE ARE MOST PROUD 8292 05:19:57,880 --> 05:20:00,360 OF WE WERE ABLE TO DO AND WHAT 8293 05:20:00,360 --> 05:20:01,400 WE WANT TO DO FOR EVERY SINGLE 8294 05:20:01,400 --> 05:20:01,960 RARE COMMUNITY. 8295 05:20:01,960 --> 05:20:05,040 SO, SPEAKING OF THAT, WE WORKED 8296 05:20:05,040 --> 05:20:06,240 VERY HARD TO EXPAND THE PLATFORM 8297 05:20:06,240 --> 05:20:08,960 AND NOW WE ARE ABLE TO TAKE -- 8298 05:20:08,960 --> 05:20:10,960 WE WORK MAINLY DIRECTLY WITH 8299 05:20:10,960 --> 05:20:12,000 ADVOCACY GROUPS, PATIENTS CAN 8300 05:20:12,000 --> 05:20:13,280 COME ON THEIR OWN AS WELL. 8301 05:20:13,280 --> 05:20:16,200 WE ALSO WORK WITH RARE X AND 8302 05:20:16,200 --> 05:20:16,840 REALLY GREAT REGISTRY PLATFORMS. 8303 05:20:16,840 --> 05:20:19,960 IT'S A VERY GOOD SYNERGY WE HAVE 8304 05:20:19,960 --> 05:20:21,040 GREAT DATA FROM PATIENTS AND 8305 05:20:21,040 --> 05:20:22,440 SURVEYS AND CAREGIVERS COMBINED 8306 05:20:22,440 --> 05:20:24,720 WITH EMR DATA. 8307 05:20:24,720 --> 05:20:26,400 AND WE HAVE OPENED UP THE 8308 05:20:26,400 --> 05:20:28,240 PLATFORM FOR ANYONE WITH 8309 05:20:28,240 --> 05:20:31,000 EPILEPSY, PATIENTS WITH EM LEPSY 8310 05:20:31,000 --> 05:20:31,720 EAR DEVELOPMENTAL DELAY. 8311 05:20:31,720 --> 05:20:34,680 WE HOPED TO EXPAND IT TO OTHER 8312 05:20:34,680 --> 05:20:35,600 DISEASES, CARDIOMY OPY THAT, 8313 05:20:35,600 --> 05:20:38,240 MUSCULAR DISEASES AND ET CETERA 8314 05:20:38,240 --> 05:20:38,800 IN TIME. 8315 05:20:38,800 --> 05:20:40,440 AND THAT IS IT. 8316 05:20:40,440 --> 05:20:43,480 HAPPY TO ANSWER QUESTIONS LATER. 8317 05:20:43,480 --> 05:20:53,720 [ APPLAUSE ] 8318 05:21:05,200 --> 05:21:07,080 >> NEXT UP WE HAVE ANOTHER RARE 8319 05:21:07,080 --> 05:21:08,960 STORY TITLED, SCIENTIFIC AND 8320 05:21:08,960 --> 05:21:10,880 PATIENT JOURNEY TO THE FIRST 8321 05:21:10,880 --> 05:21:14,080 U.S. FDA APPROVED DRUGS FOR TWO 8322 05:21:14,080 --> 05:21:14,840 RARE EOSINOPHILIC DISEASES. 8323 05:21:14,840 --> 05:21:17,160 THIS WILL BE A DUO PRESENTATION 8324 05:21:17,160 --> 05:21:20,280 AND WE'LL BE JOINED BY DR. MARC 8325 05:21:20,280 --> 05:21:22,080 ROTHERBERG, A PRINCIPAL 8326 05:21:22,080 --> 05:21:27,360 INVESTIGATOR FOR A CONSORTIUM OF 8327 05:21:27,360 --> 05:21:27,880 GASTROINTESTINAL DISEASE 8328 05:21:27,880 --> 05:21:28,160 RESEARCHERS. 8329 05:21:28,160 --> 05:21:29,720 HE IS THE DIRECTOR OF THE 8330 05:21:29,720 --> 05:21:30,920 DIVISION OF ALLERGY AND 8331 05:21:30,920 --> 05:21:34,280 IMMUNOLOGY AT CINCINNATI 8332 05:21:34,280 --> 05:21:40,360 CHILDREN'S, 8333 05:21:40,360 --> 05:21:40,840 CENTER (CCHMC); DIRECTOR 8334 05:21:40,840 --> 05:21:41,600 CINCINNATI CENTER FOR 8335 05:21:41,600 --> 05:21:42,200 EOSINOPHILIC DISORDERS, CCHMC; 8336 05:21:42,200 --> 05:21:42,720 PROFESSOR, UNIVERSITY OF 8337 05:21:42,720 --> 05:21:43,200 CINCINNATI DEPARTMENT OF 8338 05:21:43,200 --> 05:21:47,000 PEDIATRICS 8339 05:21:47,000 --> 05:21:48,880 WE ARE ALSO JOINED BY ELLYN 8340 05:21:48,880 --> 05:21:50,000 KODROFF WHO IS PART OF THE 8341 05:21:50,000 --> 05:21:55,600 COALITION OF PATIENT ADVOCACY 8342 05:21:55,600 --> 05:21:55,800 GROUPS 8343 05:21:55,800 --> 05:21:56,600 REPRESENTATIVE, CEGIR 8344 05:21:56,600 --> 05:21:57,200 RDCRN; PRESIDENT AND FOUNDER, 8345 05:21:57,200 --> 05:21:58,120 CAMPAIGN URGING RESEARCH FOR 8346 05:21:58,120 --> 05:22:04,160 EOSINOPHILIC 8347 05:22:04,160 --> 05:22:11,640 DISEASES. 8348 05:22:11,640 --> 05:22:13,400 >> GOOD AFTERNOON. 8349 05:22:13,400 --> 05:22:13,800 I'M MARC ROTHERBERG. 8350 05:22:13,800 --> 05:22:16,040 YOU ALREADY HEARD OUR 8351 05:22:16,040 --> 05:22:19,520 INTRODUCTIONS AND THAT WAS QUITE 8352 05:22:19,520 --> 05:22:19,720 LONG. 8353 05:22:19,720 --> 05:22:21,160 THANK YOU VERY MUCH FOR INVITING 8354 05:22:21,160 --> 05:22:23,560 US TO SPEAK TODAY. 8355 05:22:23,560 --> 05:22:26,280 I MUST LET YOU KNOW I'M TRULY 8356 05:22:26,280 --> 05:22:29,680 AMAZED AND INSPIRED TO HEAR THE 8357 05:22:29,680 --> 05:22:30,360 TALKS, ESPECIALLY FROM THE 8358 05:22:30,360 --> 05:22:35,480 PARENTS AND FAMILY MEMBERS AND 8359 05:22:35,480 --> 05:22:36,120 IT'S TRULY IMPRESSIVE TO SEE THE 8360 05:22:36,120 --> 05:22:39,200 TYPES OF IMPACT THAT PEOPLE, 8361 05:22:39,200 --> 05:22:41,000 ESPECIALLY FAMILY MEMBERS AND 8362 05:22:41,000 --> 05:22:42,000 PATIENTS ARE HAVING ON DISEASES 8363 05:22:42,000 --> 05:22:45,280 AND IT'S TRULY IMPRESSIVE THE 8364 05:22:45,280 --> 05:22:46,240 IMPACT AND HOW YOU'RE ENABLING 8365 05:22:46,240 --> 05:22:48,800 DISEASES AND IMPROVING LIFE IN A 8366 05:22:48,800 --> 05:22:49,960 WAY THAT COULDN'T JUST BE DONE 8367 05:22:49,960 --> 05:22:50,920 BY PHYSICIANS OR HEALTH CARE 8368 05:22:50,920 --> 05:22:52,800 PROVIDERS ALONE. 8369 05:22:52,800 --> 05:22:56,640 I ALSO WANT TO SAY I'M TRULY 8370 05:22:56,640 --> 05:22:57,280 HUMBLED HERE BECAUSE SOME PEOPLE 8371 05:22:57,280 --> 05:22:59,280 MIGHT CALL ME A RARE DISEASE 8372 05:22:59,280 --> 05:23:00,960 EXPERT BUT I WALK AROUND AND SEE 8373 05:23:00,960 --> 05:23:02,040 THE POSTERS AND THE NAMES OF 8374 05:23:02,040 --> 05:23:05,160 THESE DISEASES AND I CAN TRULY 8375 05:23:05,160 --> 05:23:08,520 SAY THAT I KNOW BARELY ANYTHING. 8376 05:23:08,520 --> 05:23:11,360 I WORK ON DISEASES DESCRIBED 8377 05:23:11,360 --> 05:23:12,640 TODAY JUST A COUPLE OF RARE 8378 05:23:12,640 --> 05:23:13,520 DISEASES. 8379 05:23:13,520 --> 05:23:15,520 WHAT MY GOAL IS TO TAKE YOU 8380 05:23:15,520 --> 05:23:18,360 THROUGH OUR JOURNEY, WHICH HAS 8381 05:23:18,360 --> 05:23:20,160 BEEN A LITTLE MORE MATURE THAN 8382 05:23:20,160 --> 05:23:22,960 THE ONES WE PERHAPS HEARD ABOUT 8383 05:23:22,960 --> 05:23:24,040 EARLIER TODAY IN TERMS OF HOW WE 8384 05:23:24,040 --> 05:23:24,840 STARTED. 8385 05:23:24,840 --> 05:23:25,880 THIS HAS BEEN MATURE BECAUSE 8386 05:23:25,880 --> 05:23:28,000 IT'S BEEN A LONG JOURNEY, ABOUT 8387 05:23:28,000 --> 05:23:32,720 2 1/2 DECADES FOR ME, MYSELF, 8388 05:23:32,720 --> 05:23:33,640 AND ELEANOR, THE SAME AMOUNT OF 8389 05:23:33,640 --> 05:23:33,840 TIME. 8390 05:23:33,840 --> 05:23:35,280 AND HOW WE PARTNERED TOGETHER 8391 05:23:35,280 --> 05:23:38,560 WITH PATIENTS AND ADVOCACY AND 8392 05:23:38,560 --> 05:23:41,120 KEY STAKEHOLDERS WHO ADVANCED IN 8393 05:23:41,120 --> 05:23:42,320 THE STANDING OF RARE DISEASES OF 8394 05:23:42,320 --> 05:23:44,320 INTEREST AND SUCCESS IN TERMS OF 8395 05:23:44,320 --> 05:23:45,960 APPROVAL OF DRUGS BY THE FDA TO 8396 05:23:45,960 --> 05:23:48,080 RARE DISEASES. 8397 05:23:48,080 --> 05:23:50,800 IN TERMS WE DON'T HAVE TO WORRY 8398 05:23:50,800 --> 05:23:52,320 ABOUT HES. 8399 05:23:52,320 --> 05:23:57,720 I HAD TO LOOK UP WHAT FOX GENE 1 8400 05:23:57,720 --> 05:23:58,320 WAS BUT THESE ARE PROTOTYPIC 8401 05:23:58,320 --> 05:23:59,640 EXPERIENCES THAT IMPACT US BUT I 8402 05:23:59,640 --> 05:24:01,440 WILL GIVE YOU SOME BACKGROUND. 8403 05:24:01,440 --> 05:24:04,000 I WORK ON DISEASES RELATED TO 8404 05:24:04,000 --> 05:24:05,200 THE IMMUNE SYSTEM AND MOST OF 8405 05:24:05,200 --> 05:24:11,040 THE DISEASES ARE RELATED TO SIN 8406 05:24:11,040 --> 05:24:11,640 FILLS. 8407 05:24:11,640 --> 05:24:12,520 THIS IS A BLOOD CELL, WHITE 8408 05:24:12,520 --> 05:24:15,280 BLOOD CELL SHOWN IN PERIPHERAL 8409 05:24:15,280 --> 05:24:15,520 BLOOD. 8410 05:24:15,520 --> 05:24:19,040 IT WAS THE ROUND ONES AND RED 8411 05:24:19,040 --> 05:24:20,200 BLOOD CELLS YOU HEARD EARLIER 8412 05:24:20,200 --> 05:24:21,960 WITH THE SICKLE CELL, THIS IS 8413 05:24:21,960 --> 05:24:23,880 ONE OF THE WHITE BLOOD CELLS. 8414 05:24:23,880 --> 05:24:24,760 IT'S A RARE CELL. 8415 05:24:24,760 --> 05:24:26,200 IT ONLY TYPICALLY ACCOUNTS FOR 8416 05:24:26,200 --> 05:24:30,000 1% OF THE CELLS IN THE BLOOD T 8417 05:24:30,000 --> 05:24:32,040 ACCUMULATES IN DIFFERENT DISEASE 8418 05:24:32,040 --> 05:24:35,400 STATES WHICH WE CALL CYNOPHILIA. 8419 05:24:35,400 --> 05:24:36,720 AND THEN THERE IS A SERIES OF 8420 05:24:36,720 --> 05:24:39,960 DISEASES WHICH THESE CELLS ARE 8421 05:24:39,960 --> 05:24:41,280 UNCONTROLLED AND THEY CAN 8422 05:24:41,280 --> 05:24:42,520 PROPAGATE AT VERY HIGH LEVELS, 8423 05:24:42,520 --> 05:24:44,640 MANY TIMES IT'S RELATED TO THE 8424 05:24:44,640 --> 05:24:46,480 ACTIVATION OF THE IMMUNE SYSTEM 8425 05:24:46,480 --> 05:24:47,920 PARTICULARLY THROUGH ALLERGIES 8426 05:24:47,920 --> 05:24:49,080 AND OTHER TIMES IT COULD BE A 8427 05:24:49,080 --> 05:24:51,400 PRIMARY DEFECT IN THE 8428 05:24:51,400 --> 05:24:54,480 HEMATOPOIETIC SYSTEM IN THE BONE 8429 05:24:54,480 --> 05:24:55,040 MARROW. 8430 05:24:55,040 --> 05:24:59,200 SO THESE DISEASES ARE COMPLEX 8431 05:24:59,200 --> 05:25:00,240 BECAUSE ESIN FILLS ARE PART OF 8432 05:25:00,240 --> 05:25:01,680 THE IMMUNE SYSTEM AND THEY ARE 8433 05:25:01,680 --> 05:25:04,200 PRESENT IN THE BODY AT LOW 8434 05:25:04,200 --> 05:25:06,000 LEVELS AND AT HOMEOSTATIC 8435 05:25:06,000 --> 05:25:06,640 CONDITIONS, WHICH IS SHOWN ON 8436 05:25:06,640 --> 05:25:08,400 THE LEFT SIDE OF THIS DIAGRAM. 8437 05:25:08,400 --> 05:25:10,400 THE VARIOUS LOCATIONS WHERE THEY 8438 05:25:10,400 --> 05:25:13,480 CAN SOMETIMES BE FOUND. 8439 05:25:13,480 --> 05:25:15,760 AND THEN IN CERTAIN DISEASES IN 8440 05:25:15,760 --> 05:25:19,480 THIS CASE, HES, THEY ACCUMULATE 8441 05:25:19,480 --> 05:25:21,040 AT VERY HIGH LEVELS. 8442 05:25:21,040 --> 05:25:23,200 WE'LL FOCUS ON THAT DISEASE, 8443 05:25:23,200 --> 05:25:30,360 WHICH IS VERY RARE, AND ONE THAT 8444 05:25:30,360 --> 05:25:32,240 IS -- ON THE RIGHT IS SHOWING A 8445 05:25:32,240 --> 05:25:34,880 PATIENT THAT HAS A SWOLLEN 8446 05:25:34,880 --> 05:25:36,280 ACCUMULATIONS IN THE ESOPHAGUS 8447 05:25:36,280 --> 05:25:37,120 AND DIFFICULTY EATING. 8448 05:25:37,120 --> 05:25:44,000 A NUMBER OF YEARS AGO, ELLEN HAD 8449 05:25:44,000 --> 05:25:45,800 A PATIENT WHOSE MOTHER CONTACTED 8450 05:25:45,800 --> 05:25:47,320 ME AND INQUIRED COULD THEY BE 8451 05:25:47,320 --> 05:25:49,600 INVOLVED IN HER CHILD'S PROBLEMS 8452 05:25:49,600 --> 05:25:50,480 EATING AND SHE'LL TAKE YOU 8453 05:25:50,480 --> 05:25:51,400 THROUGH THAT JOURNEY. 8454 05:25:51,400 --> 05:25:53,320 THAT IS HOW WE MET ABOUT 20 8455 05:25:53,320 --> 05:25:55,520 YEARS AGO, THROUGH THE INQUIRY 8456 05:25:55,520 --> 05:25:55,720 SHE HAD. 8457 05:25:55,720 --> 05:25:57,320 AND I RESPONDED TO THAT AND 8458 05:25:57,320 --> 05:25:58,080 SINCE THEN, WE BUILT A 8459 05:25:58,080 --> 05:25:59,520 PARTNERSHIP THAT IS TRULY MOVED 8460 05:25:59,520 --> 05:26:00,680 US ALONG AND SHE IS GOING TO 8461 05:26:00,680 --> 05:26:03,320 TAKE YOU THROUGH WHAT SHE HAS 8462 05:26:03,320 --> 05:26:05,000 BEEN ABLE TO DO. 8463 05:26:05,000 --> 05:26:06,680 >> HI, EVERYBODY. 8464 05:26:06,680 --> 05:26:07,600 AND THANK YOU VERY MUCH FOR 8465 05:26:07,600 --> 05:26:07,880 HAVING ME. 8466 05:26:07,880 --> 05:26:10,680 IN 2003, MY DAUGHTER WAS 8467 05:26:10,680 --> 05:26:17,640 DIAGNOSED WITH EEOSINOPHILIC 8468 05:26:17,640 --> 05:26:18,200 GASTROARTHRITIS AND I KNEW 8469 05:26:18,200 --> 05:26:19,760 NOBODY WHO HAD THIS AND BROUGHT 8470 05:26:19,760 --> 05:26:22,720 ME TO CINCINNATI CHILDREN'S 8471 05:26:22,720 --> 05:26:23,280 HOSPITAL WHERE I MET THIS 8472 05:26:23,280 --> 05:26:24,640 WONDERFUL DR., MARC ROTHERBERG. 8473 05:26:24,640 --> 05:26:26,040 AND HE EXPLAINED TO ME THERE 8474 05:26:26,040 --> 05:26:27,600 WERE NO FUNDS FOR RESEARCH. 8475 05:26:27,600 --> 05:26:29,680 SO MY FIRST GOAL WAS, I DON'T 8476 05:26:29,680 --> 05:26:30,880 KNOW HOW, I DON'T KNOW WHERE, 8477 05:26:30,880 --> 05:26:33,160 BUT WE ARE GOING TO RAISE MONEY. 8478 05:26:33,160 --> 05:26:34,840 AND I HEARD SOMEBODY ASK THE 8479 05:26:34,840 --> 05:26:36,680 QUESTION EARLIER, WHAT DO YOU DO 8480 05:26:36,680 --> 05:26:38,440 IF YOU DON'T UNDERSTAND KNOW 8481 05:26:38,440 --> 05:26:39,120 ANYBODY WITH THIS DISEASE TO 8482 05:26:39,120 --> 05:26:39,400 HELP YOU? 8483 05:26:39,400 --> 05:26:40,000 AND I KNEW NOBODY WITH THIS 8484 05:26:40,000 --> 05:26:41,640 DISEASE AND I WENT HOME AND I 8485 05:26:41,640 --> 05:26:43,120 ASKED MY FRIENDS AND FAMILY TO 8486 05:26:43,120 --> 05:26:45,480 PLEASE HELP ME START A 8487 05:26:45,480 --> 05:26:45,800 FOUNDATION. 8488 05:26:45,800 --> 05:26:48,840 SINCE THEN, I CAN TELL YOU WE 8489 05:26:48,840 --> 05:26:50,280 RAISED AND DONATED VERY CLOSE TO 8490 05:26:50,280 --> 05:26:53,640 7 MILLION DOLLARS TO RESEARCH. 8491 05:26:53,640 --> 05:26:55,880 SO THANK YOU. 8492 05:26:55,880 --> 05:26:56,480 [ APPLAUSE ] 8493 05:26:56,480 --> 05:26:58,280 I'M HAPPY TO WALK THROUGH THE 8494 05:26:58,280 --> 05:26:58,920 JOURNEY WITH ANYBODY WHO WOULD 8495 05:26:58,920 --> 05:27:01,880 LIKE TO CONTACT ME. 8496 05:27:01,880 --> 05:27:02,680 I DON'T KNOW IF MY E-MAIL IS UP 8497 05:27:02,680 --> 05:27:02,880 THERE. 8498 05:27:02,880 --> 05:27:08,520 I CAN TELL YOU QUICKLY. 8499 05:27:08,520 --> 05:27:09,520 ELLYN@CUREDFOUNDATION.ORG. 8500 05:27:09,520 --> 05:27:11,240 I'M HAPPY TO HELP WHETHER IT IS 8501 05:27:11,240 --> 05:27:13,320 RELATED TO THIS FOUNDATION OR 8502 05:27:13,320 --> 05:27:14,160 ANY DISEASE. 8503 05:27:14,160 --> 05:27:16,040 BUT THROUGH WORKING WITH 8504 05:27:16,040 --> 05:27:18,440 DR. MARC ROTHERBERG, WE LEARNED 8505 05:27:18,440 --> 05:27:21,120 HOW MUCH THE PATIENT VOICE WAS 8506 05:27:21,120 --> 05:27:23,440 IMPACTED IN RESEARCH. 8507 05:27:23,440 --> 05:27:25,480 AND HOW MANY PATIENTS DIDN'T 8508 05:27:25,480 --> 05:27:27,080 REALIZE THAT YOU HAVE TO GET 8509 05:27:27,080 --> 05:27:27,680 INVOLVED AND YOU HAVE TO SPEAK 8510 05:27:27,680 --> 05:27:29,680 AND YOU HAVE TO USE YOUR VOICE 8511 05:27:29,680 --> 05:27:30,920 AND YOU HAVE TO SIGN UP FOR 8512 05:27:30,920 --> 05:27:32,320 MEDICAL TRIALS AND YOU HAVE TO 8513 05:27:32,320 --> 05:27:35,920 BE WILLING TO GIVE OF YOURSELF 8514 05:27:35,920 --> 05:27:36,920 AS WELL AS YOU ARE TO EXPECT 8515 05:27:36,920 --> 05:27:38,560 YOUR PHYSICIANS TO HELP YOU. 8516 05:27:38,560 --> 05:27:41,960 SO THROUGH THAT JOURNEY, VERY 8517 05:27:41,960 --> 05:27:43,360 FORTUNATE TO HAVE THE NATIONAL 8518 05:27:43,360 --> 05:27:45,440 INSTITUTE OF HEALTH GET INVOLVED 8519 05:27:45,440 --> 05:27:49,800 WITH OUR JOURNEY AND I CAN TELL 8520 05:27:49,800 --> 05:27:53,320 YOU THIS PAST MAY, WITH CURED 8521 05:27:53,320 --> 05:27:55,200 BEING ABLE TO HELP MEDICAL 8522 05:27:55,200 --> 05:27:56,800 TRIALS AND WORK WITH SO MANY 8523 05:27:56,800 --> 05:27:57,360 DIFFERENT PHYSICIANS. 8524 05:27:57,360 --> 05:27:59,880 WE WERE ABLE TO GET OUR FIRST 8525 05:27:59,880 --> 05:28:02,520 FDA-APPROVED DRUG FOR THIS 8526 05:28:02,520 --> 05:28:04,800 DISEASE. 8527 05:28:04,800 --> 05:28:05,640 [ APPLAUSE ] 8528 05:28:05,640 --> 05:28:08,320 AND THE PATIENTS ARE GETTING IT 8529 05:28:08,320 --> 05:28:09,440 AND IT'S OBVIOUSLY NOT GOING TO 8530 05:28:09,440 --> 05:28:11,240 WORK FOR EVERYBODY, BUT SO MANY 8531 05:28:11,240 --> 05:28:14,440 PATIENTS ARE FEELING RECOVERY. 8532 05:28:14,440 --> 05:28:17,240 WE STARTED THE CONSORTIUM, WHICH 8533 05:28:17,240 --> 05:28:19,720 WAS A HUGE DREAM OF MINE THAT WE 8534 05:28:19,720 --> 05:28:21,000 WOULD WORK TOGETHER WITH MANY 8535 05:28:21,000 --> 05:28:22,800 DIFFERENT DOCTORS FROM MANY 8536 05:28:22,800 --> 05:28:24,200 DIFFERENT CENTERS AND THE REASON 8537 05:28:24,200 --> 05:28:27,840 WE HAVE THIS CONSORTIUM IS 8538 05:28:27,840 --> 05:28:28,760 BECAUSE OF THE NIH AND WE ARE 8539 05:28:28,760 --> 05:28:31,720 GRATEFUL FOR THEM PUTTING THIS 8540 05:28:31,720 --> 05:28:32,720 TOGETHER BECAUSE OBVIOUSLY MANY 8541 05:28:32,720 --> 05:28:35,040 GREAT MINDS WORKING TOGETHER 8542 05:28:35,040 --> 05:28:37,240 GETS YOU SO MUCH. 8543 05:28:37,240 --> 05:28:38,640 TODAY WE HAD A VERY GREAT 8544 05:28:38,640 --> 05:28:40,920 ARTICLE THAT CAME OUT IN MEDICAL 8545 05:28:40,920 --> 05:28:41,440 JOURNALS. 8546 05:28:41,440 --> 05:28:42,760 WE ARE SO PROUD OF WORKING 8547 05:28:42,760 --> 05:28:45,120 TOGETHER WITH THE DOCTORS AND 8548 05:28:45,120 --> 05:28:45,960 WHAT SHOCKED ME MOST WHEN WE 8549 05:28:45,960 --> 05:28:48,520 STARTED WORKING WITH THE 8550 05:28:48,520 --> 05:28:50,440 CONSORTIUM IS, THEY HAVE TO HAVE 8551 05:28:50,440 --> 05:28:51,720 PATIENT ADVOCACY GROUPS. 8552 05:28:51,720 --> 05:28:53,040 THAT'S PART OF THE DEAL OF THEM 8553 05:28:53,040 --> 05:28:54,080 GETTING IN. 8554 05:28:54,080 --> 05:28:54,880 MY FIRST THOUGHT WAS, WE ARE 8555 05:28:54,880 --> 05:28:57,160 GOING TO SIT SILENT AND ALL 8556 05:28:57,160 --> 05:28:58,720 THESE CALLS BUT NOBODY IS REALLY 8557 05:28:58,720 --> 05:28:59,880 GOING TO LISTEN TO US. 8558 05:28:59,880 --> 05:29:02,760 I CAN TELL YOU EVERY TRIAL, 8559 05:29:02,760 --> 05:29:05,400 EVERYTHING THEY DO, THEY ALWAYS 8560 05:29:05,400 --> 05:29:05,760 ASK OUR OPINION. 8561 05:29:05,760 --> 05:29:06,720 THEY ALWAYS LISTEN TO OUR 8562 05:29:06,720 --> 05:29:07,080 OPINION. 8563 05:29:07,080 --> 05:29:08,880 THEY WANT TO KNOW HOW THE 8564 05:29:08,880 --> 05:29:10,920 PATIENTS ARE FEELING. 8565 05:29:10,920 --> 05:29:13,080 WHAT THE PATIENTS NEED AND HOW 8566 05:29:13,080 --> 05:29:14,840 THEY CAN HELP THE PATIENT. 8567 05:29:14,840 --> 05:29:16,480 THE DOCTORS ARE SO DEDICATED. 8568 05:29:16,480 --> 05:29:18,200 WE ARE SO LUCKY TO WORK WITH 8569 05:29:18,200 --> 05:29:18,400 THEM. 8570 05:29:18,400 --> 05:29:20,560 AND SO LUCKY TO HAVE THE NIH 8571 05:29:20,560 --> 05:29:21,360 BEHIND US. 8572 05:29:21,360 --> 05:29:24,000 ALWAYS HAPPY TO ANSWER QUESTIONS 8573 05:29:24,000 --> 05:29:25,840 IF ANYONE EVER WANTS TO REACH 8574 05:29:25,840 --> 05:29:26,680 OUT TO ME. 8575 05:29:26,680 --> 05:29:31,920 SO THANK YOU. 8576 05:29:31,920 --> 05:29:34,040 >> THIS SLIDE DEPICTS THE TYPES 8577 05:29:34,040 --> 05:29:36,040 OF INTERACTIONS TAKING PLACE 8578 05:29:36,040 --> 05:29:39,360 WITH PATIENTS THROUGH OUR 8579 05:29:39,360 --> 05:29:41,680 CONSORTIUM WITH SIMPLE GI 8580 05:29:41,680 --> 05:29:42,080 DISEASE RESEARCH. 8581 05:29:42,080 --> 05:29:45,800 WE TURNED TO THE PATIENTS FOR 8582 05:29:45,800 --> 05:29:47,720 DIRECTION AND IT'S IMPORTANT 8583 05:29:47,720 --> 05:29:48,240 EVERY STEP ALONG THE WAY T 8584 05:29:48,240 --> 05:29:50,760 STARTS AT THE BEGINNING OF OUR 8585 05:29:50,760 --> 05:29:52,960 RESEARCH FOCUS AND WE DESIGN 8586 05:29:52,960 --> 05:29:55,240 TRIALS HELPING US UNDERSTAND 8587 05:29:55,240 --> 05:29:57,000 WHAT IS IMPORTANT TO PATIENTS. 8588 05:29:57,000 --> 05:29:59,280 WHAT ARE THE OPPORTUNITIES? 8589 05:29:59,280 --> 05:29:59,840 WHAT UNIQUE PERSPECTIVES AND 8590 05:29:59,840 --> 05:30:03,600 ROLES COULD WE HAVE AS ACADEMIC 8591 05:30:03,600 --> 05:30:05,080 RESEARCHERS RATHER THAN COMPANY 8592 05:30:05,080 --> 05:30:07,840 RESEARCHERS WITH A DIFFERENT 8593 05:30:07,840 --> 05:30:08,040 AGENDA. 8594 05:30:08,040 --> 05:30:09,840 WE WORK CLOSELY WITH THE PATIENT 8595 05:30:09,840 --> 05:30:11,800 ADVOCACY GROUPS TO RECRUIT 8596 05:30:11,800 --> 05:30:12,880 PATIENTS AND IT REALLY IS 8597 05:30:12,880 --> 05:30:13,960 CRITICAL, ESPECIALLY FOR RARE 8598 05:30:13,960 --> 05:30:15,480 DISEASES TO HAVE THAT TYPE OF 8599 05:30:15,480 --> 05:30:16,000 OUTREACH. 8600 05:30:16,000 --> 05:30:18,120 THEY HELP US DISSEMINATE THE 8601 05:30:18,120 --> 05:30:18,440 FINDINGS. 8602 05:30:18,440 --> 05:30:20,400 THEY CERTAINLY HELP US USE THE 8603 05:30:20,400 --> 05:30:23,480 INFORMATION WE GATHER TO EDUCATE 8604 05:30:23,480 --> 05:30:25,120 THE COMMUNITY WHETHER IT BE THE 8605 05:30:25,120 --> 05:30:28,200 OTHER DOCTORS, BUT CERTAINLY 8606 05:30:28,200 --> 05:30:28,480 PATIENTS. 8607 05:30:28,480 --> 05:30:29,720 THEY HAVE BEEN VERY POLLUTIONAL 8608 05:30:29,720 --> 05:30:30,160 IN POLICY MAKING. 8609 05:30:30,160 --> 05:30:32,640 I CONGRATULATE ELLEN AND OTHERS 8610 05:30:32,640 --> 05:30:36,360 IN OUR AREA WHO IN OUR FIELD 8611 05:30:36,360 --> 05:30:38,240 THAT ESTABLISHED NATIONAL 8612 05:30:38,240 --> 05:30:40,080 AWARENESS WEEK, APPROVED BY 8613 05:30:40,080 --> 05:30:41,560 CONGRESS AND IT'S VERY IMPORTANT 8614 05:30:41,560 --> 05:30:45,680 FOR THE RECOGNITION AND ALSO A 8615 05:30:45,680 --> 05:30:46,320 NUMBER OF EVENTS THAT TAKE PLACE 8616 05:30:46,320 --> 05:30:46,720 DURING THAT WEEK. 8617 05:30:46,720 --> 05:30:47,480 THEY HELPED US DIRECTLY AS YOU 8618 05:30:47,480 --> 05:30:51,400 SEE WITH FUNDING. 8619 05:30:51,400 --> 05:30:52,920 BUT ALSO INFLUENCED DRUG 8620 05:30:52,920 --> 05:30:54,600 COMPANIES TO SUPPORT RESEARCH IN 8621 05:30:54,600 --> 05:30:55,560 ADDITION TO CLINICAL TRIALS AND 8622 05:30:55,560 --> 05:30:59,240 THEY ARE VERY CRITICAL FOR OUR N 8623 05:30:59,240 --> 05:31:02,800 CATS SUPPORTED CLINICAL RESEARCH 8624 05:31:02,800 --> 05:31:03,600 CONSORTIUM, ESSENTIAL EVOLVED 8625 05:31:03,600 --> 05:31:05,400 WITH THE RARE DISEASE CLINICAL 8626 05:31:05,400 --> 05:31:06,400 RESEARCH NETWORK. 8627 05:31:06,400 --> 05:31:08,840 SO THIS IS A CYCLE AND YOU CAN 8628 05:31:08,840 --> 05:31:10,280 SEE IT EVERY PART OF THE WAY. 8629 05:31:10,280 --> 05:31:11,640 WHERE IT PROPAGATES THE RESEARCH 8630 05:31:11,640 --> 05:31:15,840 AND HELPS US ACCELERATE FINDI 8631 05:31:15,840 --> 05:31:16,080 FINDINGS. 8632 05:31:16,080 --> 05:31:17,280 THIS IS SOME OF THE SCIENTIFIC 8633 05:31:17,280 --> 05:31:19,680 BREAKTHROUGHS THAT IS HAVE TAKEN 8634 05:31:19,680 --> 05:31:20,840 PLACE IN MY LAB AND I PUT THIS 8635 05:31:20,840 --> 05:31:22,480 UP HERE NOT TO TAKE YOU THROUGH 8636 05:31:22,480 --> 05:31:25,280 THE MECHANISMS BUT TO SAY IN 8637 05:31:25,280 --> 05:31:26,520 ORDER TO BRING FORTH THE IDEAS 8638 05:31:26,520 --> 05:31:28,600 YOU HAVE, WE NEED TO BE ABLE TO 8639 05:31:28,600 --> 05:31:29,880 SUPPORT THE SCIENCE. 8640 05:31:29,880 --> 05:31:32,560 AND IT STARTS OUT WITH BASIC 8641 05:31:32,560 --> 05:31:34,120 SCIENCE, FUNDAMENTAL MECHANISMS 8642 05:31:34,120 --> 05:31:36,840 OF DISEASE AND THIS IS ALSO A 8643 05:31:36,840 --> 05:31:37,800 SLOW PROCESS BUT IT TAKES ALL 8644 05:31:37,800 --> 05:31:40,200 TYPES OF DIVERSE DISCIPLINES TO 8645 05:31:40,200 --> 05:31:42,440 COME TOGETHER INCLUDING 8646 05:31:42,440 --> 05:31:45,280 GENETICISTS, EPIDEMIOLOGISTS, 8647 05:31:45,280 --> 05:31:46,520 STATISTICIANS, STRUCTURAL 8648 05:31:46,520 --> 05:31:49,440 CHEMISTS, MEDICINAL CHEMISTS AND 8649 05:31:49,440 --> 05:31:51,200 IMMUNOLOGISTS, PARTICULARLY FOR 8650 05:31:51,200 --> 05:31:52,000 THIS DISEASE. 8651 05:31:52,000 --> 05:31:53,960 THIS ALLOWS US TO UNDERSTAND THE 8652 05:31:53,960 --> 05:31:56,120 CAUSE OF THE DISEASE, WORK OUT 8653 05:31:56,120 --> 05:31:57,960 MECHANISMS AND DEVELOP CRITICAL 8654 05:31:57,960 --> 05:32:00,080 ENTRY POINTS FOR THERAPEUTIC 8655 05:32:00,080 --> 05:32:01,120 STRATEGIES AND THEN PARTNER WITH 8656 05:32:01,120 --> 05:32:03,120 THE COMPANIES TYPICALLY, TO 8657 05:32:03,120 --> 05:32:04,760 DEVELOP THE AGENTS THAT WILL 8658 05:32:04,760 --> 05:32:06,280 INTERFERE WHETHER IT BE WITH A 8659 05:32:06,280 --> 05:32:09,800 GENE THERAPY AND IN OUR CASE, 8660 05:32:09,800 --> 05:32:12,120 SPECIFIC DRUGS WHICH ANTIBODIES, 8661 05:32:12,120 --> 05:32:14,240 HUMAN ANTIBODIES INFLUENCE THE 8662 05:32:14,240 --> 05:32:16,920 IMMUNE REACTION, PARTICULARLY 8663 05:32:16,920 --> 05:32:19,360 CYTOKINES AND TARGET DIFFERENT 8664 05:32:19,360 --> 05:32:19,640 ELEMENTS. 8665 05:32:19,640 --> 05:32:22,360 THIS IS VERY CRITICAL OF ALL 8666 05:32:22,360 --> 05:32:25,080 DISEASES TO INVEST IN THE 8667 05:32:25,080 --> 05:32:25,280 SCIENCE. 8668 05:32:25,280 --> 05:32:27,120 THIS TAKES YOU THROUGH THE 8669 05:32:27,120 --> 05:32:28,360 TIMELINE FOR THE FIRST APPROVAL 8670 05:32:28,360 --> 05:32:31,160 WE HAD A NUMBER OF YEARS AGO 8671 05:32:31,160 --> 05:32:32,120 WITH ANTIBODY. 8672 05:32:32,120 --> 05:32:35,520 IT'S ONE OF THE CYTOKINES WE 8673 05:32:35,520 --> 05:32:36,600 IDENTIFIED, INTERLEUKIN 5. 8674 05:32:36,600 --> 05:32:39,360 AND THIS TIMELINE ILLUSTRATES A 8675 05:32:39,360 --> 05:32:42,280 COUPLE OF IMPORTANT MESSAGES FOR 8676 05:32:42,280 --> 05:32:44,560 THIS PARTICULAR DISEASE, ALSO 8677 05:32:44,560 --> 05:32:45,600 STARTING OFF IN THE 1980S, QUITE 8678 05:32:45,600 --> 05:32:48,760 A LONG TIME AGO, WITH BASIC 8679 05:32:48,760 --> 05:32:50,400 OBSERVATIONS REALLY THE 8680 05:32:50,400 --> 05:32:51,760 REVOLUTION IN IMMUNOLOGY IN 8681 05:32:51,760 --> 05:32:53,240 TERMS OF ELUCIDATING THE CELLS 8682 05:32:53,240 --> 05:32:55,600 AND THE CYTOKINES AND 8683 05:32:55,600 --> 05:32:57,360 SUBSEQUENTLY THE GENES THAT ARE 8684 05:32:57,360 --> 05:32:58,360 INVOLVED. 8685 05:32:58,360 --> 05:33:00,600 THE DEVELOPMENT OF FREE CLINICAL 8686 05:33:00,600 --> 05:33:01,880 MODELS FOR THE DISEASE AND THEN 8687 05:33:01,880 --> 05:33:04,920 WORK WE INITIATED, WHICH WAS 8688 05:33:04,920 --> 05:33:05,720 OFTEN WITH PHYSICIAN-SCIENTISTS 8689 05:33:05,720 --> 05:33:07,480 WILL DO, WHICH WILL BE TO TRY TO 8690 05:33:07,480 --> 05:33:09,600 DEVELOP THE RATIONAL FOR USING 8691 05:33:09,600 --> 05:33:12,680 THE BASIC SCIENCE TO HELP 8692 05:33:12,680 --> 05:33:12,960 PATIENTS. 8693 05:33:12,960 --> 05:33:13,560 AND THIS STARTED OFF WITH WORK 8694 05:33:13,560 --> 05:33:15,080 WE INITIATED BECAUSE OFTEN RARE 8695 05:33:15,080 --> 05:33:17,640 DISEASES AS WE KNOW, ARE UNDER 8696 05:33:17,640 --> 05:33:20,040 FUNDED, UNDER RECOGNIZED AND 8697 05:33:20,040 --> 05:33:25,440 THEY NEED TO TAKE PASSION, 8698 05:33:25,440 --> 05:33:27,720 INVESTIGATORS STIMULATED BY OUR 8699 05:33:27,720 --> 05:33:29,120 INTERACTION WITH THE CURED 8700 05:33:29,120 --> 05:33:32,160 FOUNDATION AND PATIENT GROUPS TO 8701 05:33:32,160 --> 05:33:34,120 PROPAGATE CONCEPTS THAT WE HAD, 8702 05:33:34,120 --> 05:33:35,080 UM PROVE THESE IDEAS WITH THE 8703 05:33:35,080 --> 05:33:39,400 SUPPORT AND THE FDA THAT HAS 8704 05:33:39,400 --> 05:33:40,000 OFTEN DISEASE GRANT PROGRAM, 8705 05:33:40,000 --> 05:33:41,320 WHICH WE ARE FORTUNATE TO 8706 05:33:41,320 --> 05:33:45,840 RECEIVE FUNDING FROM THE FDA AND 8707 05:33:45,840 --> 05:33:46,480 THEN TO BE VERY PERSIST WANT IN 8708 05:33:46,480 --> 05:33:47,360 OUR RESEARCH, BECAUSE OFTEN AS 8709 05:33:47,360 --> 05:33:49,280 YOU KNOW, THERE IS A LOT OF 8710 05:33:49,280 --> 05:33:49,560 OBSTACLES. 8711 05:33:49,560 --> 05:33:52,680 WE HEARD ABOUT IT BEFORE FROM 8712 05:33:52,680 --> 05:33:53,360 SOME OF THE PATIENTS. 8713 05:33:53,360 --> 05:33:55,000 ALL THE CHALLENGES THEY 8714 05:33:55,000 --> 05:33:57,160 ENCOUNTERED UNIQUE TO BE 8715 05:33:57,160 --> 05:33:59,880 PERSISTENT AND INDEED WE WERE 8716 05:33:59,880 --> 05:34:03,000 ABOUT 15 YEARS OF PUTTING 8717 05:34:03,000 --> 05:34:06,280 THROUGH VARIOUS IDEAS AND 8718 05:34:06,280 --> 05:34:08,680 CONCEPTS THAT WE PROVED WERE 8719 05:34:08,680 --> 05:34:09,280 IMPORTANT, PROOF OF PRINCIPLE 8720 05:34:09,280 --> 05:34:11,160 FOR STUDIES IN HUMANS. 8721 05:34:11,160 --> 05:34:13,280 IT ALLOWED US TO DEVELOP 8722 05:34:13,280 --> 05:34:14,720 CONVINCING EVIDENCE AND DRUG 8723 05:34:14,720 --> 05:34:16,080 COMPANIES WHICH ULTIMATELY COME 8724 05:34:16,080 --> 05:34:19,560 AT THE END OF THESE CONCEPTS AND 8725 05:34:19,560 --> 05:34:21,720 WILL THEN FIND THIS DATA TO BE 8726 05:34:21,720 --> 05:34:22,720 CONSISTENTING, REDUCING THE RISK 8727 05:34:22,720 --> 05:34:24,760 FOR THE COMPANY TO GET INVOLVED 8728 05:34:24,760 --> 05:34:27,080 AND SUBSEQUENTLY THE COMPANIES 8729 05:34:27,080 --> 05:34:28,000 TAKEN OVER BUT IN PARTNERSHIP 8730 05:34:28,000 --> 05:34:30,640 WITH US TO PROVE THAT THEY ARE 8731 05:34:30,640 --> 05:34:32,040 IN CONJUNCTION WITH THE 8732 05:34:32,040 --> 05:34:32,680 AGREEMENTS BY THE FDA AND IN 8733 05:34:32,680 --> 05:34:35,840 THIS CASE, YOU CAN SEE THE LONG 8734 05:34:35,840 --> 05:34:36,360 JOURNAL THEY TOOK PLACE. 8735 05:34:36,360 --> 05:34:39,080 ONE OF THE GOALS OF THE RARE 8736 05:34:39,080 --> 05:34:39,720 DISEASE CLINICAL RESEARCH 8737 05:34:39,720 --> 05:34:41,760 NETWORK IS TO DEVELOP CONDITIONS 8738 05:34:41,760 --> 05:34:42,640 THAT ARE RIGHT FOR THE RARE 8739 05:34:42,640 --> 05:34:44,320 DISEASE SO THAT THE COMPANIES 8740 05:34:44,320 --> 05:34:46,840 AND OTHER KEY STAKEHOLDERS WILL 8741 05:34:46,840 --> 05:34:49,400 BE INTERESTED AND READY AND 8742 05:34:49,400 --> 05:34:50,880 EXCITED ABOUT ENGAGING THE FINAL 8743 05:34:50,880 --> 05:34:53,720 STAGES OF RESEARCH AND THERE IS 8744 05:34:53,720 --> 05:34:54,240 CLINICAL TRIAL READINESS. 8745 05:34:54,240 --> 05:34:55,760 AND THIS IS CERTAINLY A FOCUS OF 8746 05:34:55,760 --> 05:34:56,480 OUR WORK AS WELL. 8747 05:34:56,480 --> 05:35:00,840 AND IN TERMS OF THE OTHER 8748 05:35:00,840 --> 05:35:04,080 DISEASE, WE JUST HAD APPROVAL IN 8749 05:35:04,080 --> 05:35:04,280 2022. 8750 05:35:04,280 --> 05:35:06,280 YOU CAN TAKE A LOOK AT THE STEPS 8751 05:35:06,280 --> 05:35:06,760 THAT TOOK PLACE HERE. 8752 05:35:06,760 --> 05:35:07,720 ONE OF THE THINGS YOU NOTICE, 8753 05:35:07,720 --> 05:35:10,400 THE STEPS ARE FAIRLY SIMILAR. 8754 05:35:10,400 --> 05:35:13,680 ONE IS IT DOES TAKE A LONG TIME. 8755 05:35:13,680 --> 05:35:15,280 IT DOES START WITH BASIC SCIENCE 8756 05:35:15,280 --> 05:35:16,920 OBSERVATIONS OFTEN IN 8757 05:35:16,920 --> 05:35:19,440 PRE-CLINICAL MODELS, BASIC 8758 05:35:19,440 --> 05:35:20,000 IMMUNOLOGY DISCOVERIES. 8759 05:35:20,000 --> 05:35:23,160 THE PATIENT ADVOCACY GROUPS 8760 05:35:23,160 --> 05:35:25,680 CURED, AND ANOTHER PARTNER 8761 05:35:25,680 --> 05:35:27,760 ORGANIZATION WORKING TOGETHER TO 8762 05:35:27,760 --> 05:35:29,560 HELP US DEVELOP A RESEARCH 8763 05:35:29,560 --> 05:35:32,080 AGENDA AND THEN TRANSLATIONAL 8764 05:35:32,080 --> 05:35:32,800 EXPERIMENTS OFTEN WITH 8765 05:35:32,800 --> 05:35:34,600 REPOSITORIES WE HEARD ABOUT 8766 05:35:34,600 --> 05:35:36,520 EARLIER, AND IMPROVED SCIENTIFIC 8767 05:35:36,520 --> 05:35:37,880 THEORIES IN VITRO AND ULTIMATELY 8768 05:35:37,880 --> 05:35:39,320 GOING INTO HUMANS SO YOU CAN SEE 8769 05:35:39,320 --> 05:35:42,320 FIRST INFUSIONS WITH PROOF OF 8770 05:35:42,320 --> 05:35:45,240 ONE SEPTEMBER STUDIES 10-15 8771 05:35:45,240 --> 05:35:45,840 YEARS AGO AND THEN DEVELOPING 8772 05:35:45,840 --> 05:35:47,000 EARLY-STAGE POSITIVE DATA ON 8773 05:35:47,000 --> 05:35:50,720 PHASE II DATA AND DRUG COMPANIES 8774 05:35:50,720 --> 05:35:53,760 PARTNERING AT THE FINAL STAGE II 8775 05:35:53,760 --> 05:35:54,440 TO GET DRUGS APPROVED AND IT WAS 8776 05:35:54,440 --> 05:35:57,320 A VICTORY FOR SCIENCE AND RARE 8777 05:35:57,320 --> 05:35:59,520 DISEASE RESEARCH AND PATIENT 8778 05:35:59,520 --> 05:36:02,160 ADVOCACY TO HAVE THE APPROVAL OF 8779 05:36:02,160 --> 05:36:05,800 THIS FIRST DRUG FOR PATIENTS 12 8780 05:36:05,800 --> 05:36:06,640 AND OVER JUST IN MAY OF LAST 8781 05:36:06,640 --> 05:36:06,960 YEAR. 8782 05:36:06,960 --> 05:36:09,560 IT WAS REALLY EXCITING T SHOWS 8783 05:36:09,560 --> 05:36:10,320 THE COMMUNITY IMPORTANCE WAS 8784 05:36:10,320 --> 05:36:15,040 THAT THE FDA WORKED CLOSELY WITH 8785 05:36:15,040 --> 05:36:16,160 THE DRUG COMPANIES AND THE 8786 05:36:16,160 --> 05:36:18,440 PATIENT ADVOCACY GROUPS SO THE 8787 05:36:18,440 --> 05:36:21,920 DRUG WAS APPROVED DURING THE 8788 05:36:21,920 --> 05:36:23,000 ESENPHILIC AWARENESS WEEK. 8789 05:36:23,000 --> 05:36:25,120 I WAS IN MY OFFICE FRIDAY AT 8790 05:36:25,120 --> 05:36:27,440 2:00 P.M. WHEN THE E-MAIL CAME 8791 05:36:27,440 --> 05:36:28,080 OUT AND MESSAGE CAME OUT FROM 8792 05:36:28,080 --> 05:36:30,320 THE FDA IT WAS APPROVED. 8793 05:36:30,320 --> 05:36:33,000 SO OBVIOUSLY WORKING HARD THAT 8794 05:36:33,000 --> 05:36:33,200 WEEK. 8795 05:36:33,200 --> 05:36:34,160 IT WAS THE END OF THE WEEK AND 8796 05:36:34,160 --> 05:36:35,480 IT WASN'T A COINCIDENCE. 8797 05:36:35,480 --> 05:36:37,200 SO CONGRATULATIONS TO THE 8798 05:36:37,200 --> 05:36:38,800 PATIENT ADVOCACY AND ALSO 8799 05:36:38,800 --> 05:36:41,800 KNOWING THE FDA IS AN ADVOCATE 8800 05:36:41,800 --> 05:36:42,800 TO TRY TO HELP US IMPROVE 8801 05:36:42,800 --> 05:36:43,400 PATIENT'S LIVES. 8802 05:36:43,400 --> 05:36:46,040 AND THAT IS IMPORTANT TO INVOLVE 8803 05:36:46,040 --> 05:36:47,960 THEM DURING THE RESEARCH 8804 05:36:47,960 --> 05:36:49,480 PROCESS. 8805 05:36:49,480 --> 05:36:52,400 I WANTED TO JUST SUMMARIZE SOME 8806 05:36:52,400 --> 05:36:55,080 OF THE CONTRIBUTORS TO THE 8807 05:36:55,080 --> 05:36:55,640 SUCCESS AND THE TREATMENT OF 8808 05:36:55,640 --> 05:36:56,840 THESE RARE DISEASES HAVE BEEN, 8809 05:36:56,840 --> 05:37:00,960 WHICH IS ONE LONG TERM 8810 05:37:00,960 --> 05:37:01,480 COMMITMENT, TWO PATIENT 8811 05:37:01,480 --> 05:37:02,520 PARTNERSHIP AND SUPPORT, 8812 05:37:02,520 --> 05:37:04,320 PHILANTHROPIC AND FINANCIAL 8813 05:37:04,320 --> 05:37:07,920 SUPPORT SO WE CAN GET FUNDING IN 8814 05:37:07,920 --> 05:37:09,720 AREAS THAT WEREN'T NECESSARILY 8815 05:37:09,720 --> 05:37:11,960 CONVENTIONAL FOR TRADITIONAL 8816 05:37:11,960 --> 05:37:12,560 GRANTS LIKE THE NIH AND CURE 8817 05:37:12,560 --> 05:37:14,360 FOUNDATION DONATING MILLIONS OF 8818 05:37:14,360 --> 05:37:16,800 DOLLARS TO HELP OUR RESEARCH 8819 05:37:16,800 --> 05:37:19,560 THROUGHOUT THE U.S. TO 8820 05:37:19,560 --> 05:37:21,840 SUBSTANTIATE THIS DISEASE AS A 8821 05:37:21,840 --> 05:37:23,920 REAL BONA FIDE PROBLEM AND ALSO 8822 05:37:23,920 --> 05:37:24,600 SUPPORTING THE BASIC AND 8823 05:37:24,600 --> 05:37:27,560 TRANSLATIONAL RESEARCH. 8824 05:37:27,560 --> 05:37:29,160 INVESTMENT IN BASIC SCIENCE 8825 05:37:29,160 --> 05:37:31,600 EMPHASIZING THAT AND ALSO 8826 05:37:31,600 --> 05:37:32,880 TRANSLATIONAL SCIENCE. 8827 05:37:32,880 --> 05:37:34,000 PROOF-OF-CONCEPT STUDIES, 8828 05:37:34,000 --> 05:37:35,760 PRE-INDUSTRY IN OUR CASES AND 8829 05:37:35,760 --> 05:37:36,960 THEN THE CLINICAL TRIAL 8830 05:37:36,960 --> 05:37:39,640 READINESS TO THEN ALLOW 8831 05:37:39,640 --> 05:37:41,760 PARTNERSHIPS WITH THE DRUG 8832 05:37:41,760 --> 05:37:44,320 COMPANIES AND ULTIMATELY 8833 05:37:44,320 --> 05:37:45,240 ENGAGEMENT OF THE KEY 8834 05:37:45,240 --> 05:37:46,160 STAKEHOLDERS AND AGREEMENTS 8835 05:37:46,160 --> 05:37:47,200 TAKING PLACE BETWEEN COMPANIES 8836 05:37:47,200 --> 05:37:49,360 AND THE FDA AND INVOLVING THE 8837 05:37:49,360 --> 05:37:50,760 NIH, IN OUR CASE, WITH THE 8838 05:37:50,760 --> 05:37:52,000 PATIENT ADVOCACY GROUPS. 8839 05:37:52,000 --> 05:37:56,760 SO I WANTED TO CLOSE BY ANOTHER 8840 05:37:56,760 --> 05:37:58,240 EXAMPLE OF THE COMMUNITY, THE 8841 05:37:58,240 --> 05:38:00,400 ALIGNMENT THAT TAKES PLACE AND 8842 05:38:00,400 --> 05:38:03,080 THAT HAPPENED JUST TODAY OR LAST 8843 05:38:03,080 --> 05:38:04,760 NIGHT BECAUSE -- THIS IS A STUDY 8844 05:38:04,760 --> 05:38:06,440 WE WERE DOING FOR ABOUT 5 YEARS. 8845 05:38:06,440 --> 05:38:09,080 IT WAS FUNDED BY THE NIH THROUGH 8846 05:38:09,080 --> 05:38:09,720 THE RARE DISEASE CLINICAL 8847 05:38:09,720 --> 05:38:11,960 RESEARCH CONSORTIUM. 8848 05:38:11,960 --> 05:38:13,640 IT INVOLVED 10 DIFFERENT SITES 8849 05:38:13,640 --> 05:38:15,560 WORKING TOGETHER ACROSS THE U.S. 8850 05:38:15,560 --> 05:38:16,680 TO TEST THE THEORY THAT THE 8851 05:38:16,680 --> 05:38:24,000 PATIENTS BROUGHT TO OUR 8852 05:38:24,000 --> 05:38:24,640 ATTENTION WHICH WAS THE BUSINESS 8853 05:38:24,640 --> 05:38:25,160 OF REALLY TOUGH DISEASE. 8854 05:38:25,160 --> 05:38:25,760 BECAUSE PATIENTS DON'T HAVE A 8855 05:38:25,760 --> 05:38:26,320 GOOD DIET, OFTEN ARE ON SOME 8856 05:38:26,320 --> 05:38:27,920 CASES A LIQUID DIET. 8857 05:38:27,920 --> 05:38:29,400 WE TESTED THE POSSIBILITY THAT 8858 05:38:29,400 --> 05:38:30,240 AVOIDING ONLY ONE FOOD COULD BE 8859 05:38:30,240 --> 05:38:31,720 EFFECTIVE COMPARED TO AVOIDING A 8860 05:38:31,720 --> 05:38:34,000 LARGE NUMBER OF FOODS, IN THIS 8861 05:38:34,000 --> 05:38:34,520 CASE SIX DIFFERENT FOODS. 8862 05:38:34,520 --> 05:38:38,040 IN ANY EVENT WE WORKED HARD TO 8863 05:38:38,040 --> 05:38:38,560 FIND THESE PATIENTS IN 129 8864 05:38:38,560 --> 05:38:39,840 PATIENTS WHICH TOOK A COUPLE OF 8865 05:38:39,840 --> 05:38:41,760 YEARS OF WORKING TOGETHER WITH 8866 05:38:41,760 --> 05:38:43,800 THE PATIENT ADVOCACY GROUPS. 8867 05:38:43,800 --> 05:38:45,160 AND THEN SHOWING SURPRISING 8868 05:38:45,160 --> 05:38:46,480 RESULTS, WE SHOW THE ONE FOOD 8869 05:38:46,480 --> 05:38:49,000 WAS JUST AS EFFECTIVE AS 8870 05:38:49,000 --> 05:38:50,880 AVOIDING SIX FOODS AND THEN WE 8871 05:38:50,880 --> 05:38:53,120 HAD VERY STRONG INTERESTS IN 8872 05:38:53,120 --> 05:38:56,320 THIS ARTICLE BY A LEADING 8873 05:38:56,320 --> 05:38:58,000 JOURNAL, LANCET GI JOURNAL, AND 8874 05:38:58,000 --> 05:38:59,440 WITHIN A COUPLE OF WEEKS, THEY 8875 05:38:59,440 --> 05:39:00,840 ACCEPTED THE ARTICLE AFTER WE 8876 05:39:00,840 --> 05:39:02,600 WORKED ON IT FOR A YEAR, EVEN 8877 05:39:02,600 --> 05:39:04,240 THE DATA WAS COMPLETED. 8878 05:39:04,240 --> 05:39:08,800 WE JUST PUT IT ALL TOGETHER IN 8879 05:39:08,800 --> 05:39:09,320 THE WRITTEN COMMUNICATION. 8880 05:39:09,320 --> 05:39:12,720 AND THEN N CATS ALONG WITH OTHER 8881 05:39:12,720 --> 05:39:16,120 BRANCHES, PARTICULARLY NIAID AND 8882 05:39:16,120 --> 05:39:18,480 NIDDK, WHICH HOST OUR GRANT, 8883 05:39:18,480 --> 05:39:19,240 THEY COME OUT WITH A PRESS 8884 05:39:19,240 --> 05:39:20,560 RELEASE, PARTICULARLY TIMING 8885 05:39:20,560 --> 05:39:22,000 THAT SO THERE COULD BE A RELEASE 8886 05:39:22,000 --> 05:39:23,760 LAST NIGHT WITH RARE DISEASE 8887 05:39:23,760 --> 05:39:24,120 DAY. 8888 05:39:24,120 --> 05:39:26,800 AND THE LANCET JUMP IS ALSO 8889 05:39:26,800 --> 05:39:28,680 COOPERATING WITH THAT. 8890 05:39:28,680 --> 05:39:29,640 -- JOURNAL. 8891 05:39:29,640 --> 05:39:32,120 THEY RELEASED THEIR DATA IN 8892 05:39:32,120 --> 05:39:32,840 CONJUNCTION WITH THIS DATA 8893 05:39:32,840 --> 05:39:33,200 TODAY. 8894 05:39:33,200 --> 05:39:34,560 IT'S A VICTORY FOR ALL OF YOU 8895 05:39:34,560 --> 05:39:36,640 AND I THINK IT'S EXEMPLARY TO 8896 05:39:36,640 --> 05:39:39,440 KNOW THAT DISEASES CAN BE 8897 05:39:39,440 --> 05:39:41,480 TREATED EFFECTIVELY BUT IT'S 8898 05:39:41,480 --> 05:39:43,080 ALSO HELPFUL BECAUSE ELLEN MAY 8899 05:39:43,080 --> 05:39:45,360 TELL YOU ALSO, THERE IS STILL 8900 05:39:45,360 --> 05:39:46,000 TOO MANY PEOPLE SUFFERING AND 8901 05:39:46,000 --> 05:39:47,760 MUCH MORE WE NEED TO DO. 8902 05:39:47,760 --> 05:39:49,880 THESE ARE STEPS WE TAKE TO 8903 05:39:49,880 --> 05:39:51,400 IMPROVE LIFE MORE HAS TO OCCUR. 8904 05:39:51,400 --> 05:39:53,560 AND THANK YOU FOR YOUR ATTENTION 8905 05:39:53,560 --> 05:39:55,760 AND I WOULD LIKE ELLEN TO SAY 8906 05:39:55,760 --> 05:39:56,280 CONCLUDING COMMENTS. 8907 05:39:56,280 --> 05:39:57,920 >> I JUST WANT TO ADD, AS WELL 8908 05:39:57,920 --> 05:40:00,800 AS SOME OF THE OTHER THINGS I 8909 05:40:00,800 --> 05:40:01,400 SPOKE ABOUT AT THE CURE 8910 05:40:01,400 --> 05:40:05,840 FOUNDATION, WE HOSTED A 8911 05:40:05,840 --> 05:40:06,920 EDUCATION CONFERENCE IN WEST 8912 05:40:06,920 --> 05:40:09,240 CINCINNATI CHILDREN'S HOSPITAL 8913 05:40:09,240 --> 05:40:10,720 AND DR. MARC ROTHERBERG. 8914 05:40:10,720 --> 05:40:13,560 WE DO IT EVERY OTHER YEAR BUT 8915 05:40:13,560 --> 05:40:15,520 IT'S GROWN AND WE INVITED 8916 05:40:15,520 --> 05:40:16,040 INDUSTRY. 8917 05:40:16,040 --> 05:40:21,680 WE INVITED FDA AND THEN PAIRING 8918 05:40:21,680 --> 05:40:22,280 THE PATIENT STORIES AS WELL AS 8919 05:40:22,280 --> 05:40:22,680 ALL THE RESEARCH. 8920 05:40:22,680 --> 05:40:23,200 AND NOW THEY REACH OUT TO 8921 05:40:23,200 --> 05:40:26,240 PATIENT ADVOCATES AND THEY SAY, 8922 05:40:26,240 --> 05:40:27,240 WILL YOU WORK WITH US? 8923 05:40:27,240 --> 05:40:30,240 THE INDUSTRY, THE FDA I WANT TO 8924 05:40:30,240 --> 05:40:31,360 HEAR OUR STORIES. 8925 05:40:31,360 --> 05:40:33,080 IT MOTIVATES THEM. 8926 05:40:33,080 --> 05:40:34,560 SO I CAN'T URGE YOU ENOUGH TO 8927 05:40:34,560 --> 05:40:36,480 SPEAK UP BECAUSE EVERYTHING YOU 8928 05:40:36,480 --> 05:40:37,600 DO MATTERS. 8929 05:40:37,600 --> 05:40:41,640 EVERYTHING YOU SAY MATTERS. 8930 05:40:41,640 --> 05:40:42,280 AND I HEARD SOMEBODY ELSE SAY, 8931 05:40:42,280 --> 05:40:44,160 GET INVOLVED. 8932 05:40:44,160 --> 05:40:45,480 I KNOW GOOGLE IS NOT A GOOD 8933 05:40:45,480 --> 05:40:48,880 PLACE TO SEARCH BUFFETS BOOK HAS 8934 05:40:48,880 --> 05:40:49,480 REALLY HELPED MANY DIFFERENT 8935 05:40:49,480 --> 05:40:51,760 RARE DISEASES. 8936 05:40:51,760 --> 05:40:54,840 WE HOST A FACEBOOK SUPPORT GROUP 8937 05:40:54,840 --> 05:40:55,880 WITH 16,00500 MEMBERS. 8938 05:40:55,880 --> 05:40:58,560 SO FAMILY MEMBERS COME TO LEARN, 8939 05:40:58,560 --> 05:40:59,960 GET INVOLVED HOWEVER YOU CAN. 8940 05:40:59,960 --> 05:41:02,040 IF YOU'RE LOOKING TO RAISE 8941 05:41:02,040 --> 05:41:04,120 MONEY, FACEBOOK ALSO IS A GREAT 8942 05:41:04,120 --> 05:41:05,880 PLACE. 8943 05:41:05,880 --> 05:41:06,720 THEY HAVE -UE CAN FUND RAISE ON 8944 05:41:06,720 --> 05:41:07,000 FACEBOOK. 8945 05:41:07,000 --> 05:41:10,000 YOU CAN START LITTLE FUNDRAISERS 8946 05:41:10,000 --> 05:41:11,240 IN YOUR HOME BY HAVING YOUR KIDS 8947 05:41:11,240 --> 05:41:12,360 SET UP A LEMONADE STAND. 8948 05:41:12,360 --> 05:41:15,840 I MEAN, EVERY DOLLAR ADDS UP AND 8949 05:41:15,840 --> 05:41:18,120 ALL OUR SINGLE DOLLARS ADDED UP 8950 05:41:18,120 --> 05:41:19,360 TO CLOSE TO 7 MILLION DOLLARS. 8951 05:41:19,360 --> 05:41:23,240 SO YOU CAN DO IT. 8952 05:41:23,240 --> 05:41:26,120 AND WE'RE LUCKY TO HAVE SOME 8953 05:41:26,120 --> 05:41:27,480 WONDERFUL DOCTORS, RESEARCHERS 8954 05:41:27,480 --> 05:41:29,640 AND INDUSTRY AND FDA JUST ALL 8955 05:41:29,640 --> 05:41:31,920 WORKING TOGETHER FOR OUR RARE 8956 05:41:31,920 --> 05:41:32,160 DISEASE. 8957 05:41:32,160 --> 05:41:33,160 AND I BELIEVE THAT ALL OF YOU 8958 05:41:33,160 --> 05:41:36,680 HAVE A LOT OF HOPE FOR YOUR 8959 05:41:36,680 --> 05:41:38,360 DISEASES BECAUSE 16 YEARS AGO MY 8960 05:41:38,360 --> 05:41:41,000 DAUGHTER WAS TOLD SHE COULDN'T 8961 05:41:41,000 --> 05:41:42,320 HAVE FOOD. 8962 05:41:42,320 --> 05:41:43,520 NOTHING BY MOUTH EXCEPT FOR 8963 05:41:43,520 --> 05:41:44,240 LIQUID FORMULA. 8964 05:41:44,240 --> 05:41:50,040 AND NOW TODAY, SHE IS ON A TRIAL 8965 05:41:50,040 --> 05:41:50,640 DRUG AND EATING PRETTY MUCH A 8966 05:41:50,640 --> 05:41:52,200 VEGAN DIET, WHICH IS WONDERFUL. 8967 05:41:52,200 --> 05:41:54,880 SO I JUST WANT YOU ALL TO KEEP 8968 05:41:54,880 --> 05:41:59,480 YOUR HOPE. 8969 05:41:59,480 --> 05:42:08,880 >> THANK YOU. 8970 05:42:08,880 --> 05:42:10,920 >> THANK YOU FOR SHARING YOUR 8971 05:42:10,920 --> 05:42:11,120 STORY. 8972 05:42:11,120 --> 05:42:11,840 FOR THE INTEREST OF TIME, WE'RE 8973 05:42:11,840 --> 05:42:13,120 GOING TO KEEP MOVING FORWARD. 8974 05:42:13,120 --> 05:42:15,520 I DID WANT TO MENTION 8975 05:42:15,520 --> 05:42:18,880 DR. ROTHENBERG AND ELLEN, YOU 8976 05:42:18,880 --> 05:42:19,600 HAD A SPECIAL VISITOR IN THE 8977 05:42:19,600 --> 05:42:20,080 AUDIENCE FOR YOU TODAY. 8978 05:42:20,080 --> 05:42:20,560 WE HAVE A FUTURE KINGS 8979 05:42:20,560 --> 05:42:21,320 RESEARCHER RAISING HIS HAND OVER 8980 05:42:21,320 --> 05:42:21,560 THERE. 8981 05:42:21,560 --> 05:42:24,640 HE CAME JUST TO HEAR YOUR STORY. 8982 05:42:24,640 --> 05:42:26,680 SO THEY MIGHT WANT TO TALK TO 8983 05:42:26,680 --> 05:42:30,920 YOU FOR A LITTLE BIT OUTSIDE. 8984 05:42:30,920 --> 05:42:33,160 WE HOPE YOU HAVE ENJOYED OUR 8985 05:42:33,160 --> 05:42:35,840 SERIES OF RARE STORIES SO FAR. 8986 05:42:35,840 --> 05:42:37,520 THIS AFTERNOON WHERE WE FIRST 8987 05:42:37,520 --> 05:42:39,520 STARTED OFF WITH SHOWING THAT 8988 05:42:39,520 --> 05:42:40,720 RESEARCH EQUALS HOPE. 8989 05:42:40,720 --> 05:42:42,320 WE THEN TALKED ABOUT THE 8990 05:42:42,320 --> 05:42:43,640 PRE-CLINICAL TOOLBOX. 8991 05:42:43,640 --> 05:42:45,080 WE SHOWED AN EXAMPLE OF 8992 05:42:45,080 --> 05:42:47,520 SUCCESSFUL IND FILING AND JUST 8993 05:42:47,520 --> 05:42:50,200 HEARD STORIES OF SUCCESSFUL DRUG 8994 05:42:50,200 --> 05:42:50,960 APPROVAL. 8995 05:42:50,960 --> 05:42:55,520 WE ARE GOING TO CONTINUE TALKING 8996 05:42:55,520 --> 05:42:56,120 IN THIS THEME OF RARE DISEASE 8997 05:42:56,120 --> 05:42:56,440 THERAPEUTICS. 8998 05:42:56,440 --> 05:42:58,160 BUT THIS TIME WE'RE GOING TO BE 8999 05:42:58,160 --> 05:43:02,040 FOCUSING ON THAT ADVOCACY AND 9000 05:43:02,040 --> 05:43:08,960 INDUSTRY COLLABORATION. 9001 05:43:08,960 --> 05:43:09,800 >> GOOD AFTERNOON. 9002 05:43:09,800 --> 05:43:11,840 IT'S TRULY AN HONOR TO MODERATE 9003 05:43:11,840 --> 05:43:16,760 THIS SESSION TODAY ON RARE 9004 05:43:16,760 --> 05:43:18,600 DISEASES, THERAPEUTICS AND THE 9005 05:43:18,600 --> 05:43:21,720 ROLE OF INDUSTRY AND ADVOCACY 9006 05:43:21,720 --> 05:43:22,080 COLLABORATIONS. 9007 05:43:22,080 --> 05:43:24,360 THIS IS A TOPIC THAT I'M 9008 05:43:24,360 --> 05:43:26,160 ESPECIALLY EXCITED ABOUT SO I'VE 9009 05:43:26,160 --> 05:43:29,800 HAD THE HOPPER OF BEING A BRIDGE 9010 05:43:29,800 --> 05:43:30,760 BETWEEN INDUSTRY AND ADVOCACY 9011 05:43:30,760 --> 05:43:33,320 WITH A SPECIAL FOCUS IN RARE 9012 05:43:33,320 --> 05:43:37,960 DISEASES FOR QUITE SOME TIME. 9013 05:43:37,960 --> 05:43:41,440 WE HAVE AN AMAZING PANEL TODAY, 9014 05:43:41,440 --> 05:43:43,520 SAVED THE BEST FOR LAST. 9015 05:43:43,520 --> 05:43:44,800 EVERYTHING WAS GREAT SO FAR. 9016 05:43:44,800 --> 05:43:46,520 BUT, THIS PANEL IS AMAZING. 9017 05:43:46,520 --> 05:43:48,920 THE PANELISTS THAT HAVE JOINED 9018 05:43:48,920 --> 05:43:55,120 US, SO I'D LIKE TO GO AHEAD AND 9019 05:43:55,120 --> 05:43:55,720 INTRODUCE THEM ON THE STAGE WE 9020 05:43:55,720 --> 05:43:58,760 HAVE SHARON KING, A PASSIONATE 9021 05:43:58,760 --> 05:44:01,160 PATIENT ADVOCATE AND RARE 9022 05:44:01,160 --> 05:44:03,760 DISEASE THOUGHT LEADER WHO IS 9023 05:44:03,760 --> 05:44:06,760 UNIFIED PUBLIC OFFICIAL 9024 05:44:06,760 --> 05:44:08,640 RESEARCHERS, BIOTECH, INDUSTRY 9025 05:44:08,640 --> 05:44:10,200 REPRESENTATIVES AND OTHER 9026 05:44:10,200 --> 05:44:13,400 PATIENT ADVOCATES TO CATALYZE 9027 05:44:13,400 --> 05:44:14,760 RARE DISEASE TREATMENT 9028 05:44:14,760 --> 05:44:17,120 DEVELOPMENT AND CRITICAL PUBLIC 9029 05:44:17,120 --> 05:44:17,360 POLICIES. 9030 05:44:17,360 --> 05:44:19,720 SHE IS THE MANAGER OF ADVOCACY 9031 05:44:19,720 --> 05:44:25,600 AND COMMUNITY ENGAGEMENT AT 9032 05:44:25,600 --> 05:44:26,760 ALDEVRON, A LEADING MANUFACTURER 9033 05:44:26,760 --> 05:44:29,760 OF BIOLOGICS. 9034 05:44:29,760 --> 05:44:30,520 SHARON ALSO CO-FOUNDED AND 9035 05:44:30,520 --> 05:44:37,320 SERVES AS PRESIDENT OF TAILOR'S 9036 05:44:37,320 --> 05:44:37,520 TAIL. 9037 05:44:37,520 --> 05:44:38,120 YOU'LL LEARN THERE IS A LOT OF 9038 05:44:38,120 --> 05:44:42,080 PERSONAL PASSION IN RARE 9039 05:44:42,080 --> 05:44:42,520 ADVOCACY. 9040 05:44:42,520 --> 05:44:44,040 THIS WORKS TO RAISE AWARENESS 9041 05:44:44,040 --> 05:44:49,480 AND FUNDING FOR CLN1 FATTY 9042 05:44:49,480 --> 05:44:51,120 DISEASE RESEARCH. 9043 05:44:51,120 --> 05:44:54,680 SHE IS ALSO A STATE APPOINTED 9044 05:44:54,680 --> 05:44:55,480 MEMBER OF THE NORTH CAROLINA 9045 05:44:55,480 --> 05:45:00,800 ADVISORY COUNCIL ON RARE 9046 05:45:00,800 --> 05:45:01,280 DISEASES. 9047 05:45:01,280 --> 05:45:02,720 SHARON, THANK YOU FOR BEING 9048 05:45:02,720 --> 05:45:03,240 HERE. 9049 05:45:03,240 --> 05:45:05,520 IT MEANS A LOT. 9050 05:45:05,520 --> 05:45:08,400 WE ARE ALSO JOINED TODAY BY 9051 05:45:08,400 --> 05:45:14,600 SANDRA ABREVAYA AND BRIAN 9052 05:45:14,600 --> 05:45:16,080 WALLACH. 9053 05:45:16,080 --> 05:45:17,280 PROBABLY THE MOST INSPIRING 9054 05:45:17,280 --> 05:45:20,840 COUPLE THAT I KNOW. 9055 05:45:20,840 --> 05:45:22,680 TRULY HONORED FOR YOU TO BE HERE 9056 05:45:22,680 --> 05:45:22,880 TODAY. 9057 05:45:22,880 --> 05:45:25,520 I'LL START WITH SANDRA. 9058 05:45:25,520 --> 05:45:28,960 SANDRA IS THE MOM OF SPUNKY 5 9059 05:45:28,960 --> 05:45:30,200 AND 7-YEAR-OLD GIRLS. 9060 05:45:30,200 --> 05:45:33,120 SHE IS A FORMER FOUNDING CEO 9061 05:45:33,120 --> 05:45:36,880 WITH A NONPROFIT SECTOR AND HAS 9062 05:45:36,880 --> 05:45:39,320 SERVED IN SENIOR ROLES -- THERE 9063 05:45:39,320 --> 05:45:41,480 IS A LOT -- FOR THE CITY OF 9064 05:45:41,480 --> 05:45:43,960 CHICAGO, THE U.S. HOUSE OF 9065 05:45:43,960 --> 05:45:45,440 REPRESENTATIVES, THE U.S. 9066 05:45:45,440 --> 05:45:50,360 SENATE, THE U.S. DEPARTMENT OF 9067 05:45:50,360 --> 05:45:51,760 EDUCATION AND THE WHITE HOUSE. 9068 05:45:51,760 --> 05:45:58,000 SHE IS MARRIED TO BRIAN AND IS 9069 05:45:58,000 --> 05:45:59,920 CAREGIVER FOR HIM WHEN HE WAS 9070 05:45:59,920 --> 05:46:04,360 DIAGNOSED WITH ALS IN 2017. 9071 05:46:04,360 --> 05:46:06,720 THETHEY WERE 37 YEARS OLD AND HD 9072 05:46:06,720 --> 05:46:09,960 THEIR WHOLE LIVES AHEAD OF THEM. 9073 05:46:09,960 --> 05:46:13,720 I THINK YOUR YOUNGEST WAS JUST 9074 05:46:13,720 --> 05:46:15,240 BORN THE DAY THAT BRIAN WAS 9075 05:46:15,240 --> 05:46:16,400 DIAGNOSED. 9076 05:46:16,400 --> 05:46:19,760 SANDRA CO-FOUNDED I AM ALS WITH 9077 05:46:19,760 --> 05:46:22,800 HER HUSBAND, TO DRIVE AN 9078 05:46:22,800 --> 05:46:25,360 IMPACTFUL ADVOCACY AGENDA BASED 9079 05:46:25,360 --> 05:46:27,480 ON COMMUNITY ORGANIZING 9080 05:46:27,480 --> 05:46:28,320 PRINCIPLES, WHICH THEY KNOW 9081 05:46:28,320 --> 05:46:28,520 WELL. 9082 05:46:28,520 --> 05:46:30,960 AND I HAVE TO MENTION THIS 9083 05:46:30,960 --> 05:46:32,040 BECAUSE BRIAN, I LOVE IT. 9084 05:46:32,040 --> 05:46:35,120 YOU HAVE TO CHECK OUT THEIR 9085 05:46:35,120 --> 05:46:37,960 TRAILER FOR THE MARRIED 9086 05:46:37,960 --> 05:46:38,200 CAMPAIGN. 9087 05:46:38,200 --> 05:46:41,120 IT'S AMAZING. 9088 05:46:41,120 --> 05:46:41,920 >> THANK YOU. 9089 05:46:41,920 --> 05:46:43,840 >> NEXT I'D LIKE TO INTRODUCE 9090 05:46:43,840 --> 05:46:49,520 BRIAN WALLACH, CO-FOUNDER AND 9091 05:46:49,520 --> 05:46:51,760 BOARD CO-CHAIR I AM ALS. 9092 05:46:51,760 --> 05:46:54,760 AND HE WAS DIAGNOSED IN 9093 05:46:54,760 --> 05:46:55,720 NOVEMBER, 2017. 9094 05:46:55,720 --> 05:46:59,360 SINCE THEN, HE HAS BECOME A 9095 05:46:59,360 --> 05:47:01,480 OUTSPOKEN WELL-KNOWN AND 9096 05:47:01,480 --> 05:47:03,400 IMPACTFUL PATIENT ADVOCATE. 9097 05:47:03,400 --> 05:47:06,880 MANY OF YOU WHO GO ON SOCIAL 9098 05:47:06,880 --> 05:47:09,600 MEDIA AND TWITTER MAY KNOW BRIAN 9099 05:47:09,600 --> 05:47:17,320 FROM HIS HASHTAG -- 9100 05:47:17,320 --> 05:47:17,640 [ INAUDIBLE ] 9101 05:47:17,640 --> 05:47:19,440 HERE'S AN AVID SKIIER WHO RAN 9102 05:47:19,440 --> 05:47:21,040 THE 400 AT YALE. 9103 05:47:21,040 --> 05:47:23,200 IN ADDITION TO CO-FOUNDING THE 9104 05:47:23,200 --> 05:47:28,760 NONPROFIT I AM ALS, BRIAN WAS AN 9105 05:47:28,760 --> 05:47:29,360 ASSISTANT U.S. ATTORNEY IN THE 9106 05:47:29,360 --> 05:47:32,640 NORTHERN DISTRICT OF ILLINOIS. 9107 05:47:32,640 --> 05:47:38,520 HE ALSO SERVED AS THE SENIOR 9108 05:47:38,520 --> 05:47:39,120 COUNSEL AT THE WHITE HOUSE IN 9109 05:47:39,120 --> 05:47:40,680 THE OBAMA ADMINISTRATION. 9110 05:47:40,680 --> 05:47:42,720 SANDRA AND BRIAN, I'M SO HONORED 9111 05:47:42,720 --> 05:47:46,680 TO HAVE YOU BOTH TODAY. 9112 05:47:46,680 --> 05:47:48,760 >> THANK YOU FOR HAVING US AND 9113 05:47:48,760 --> 05:47:50,360 FOR LETTING US JOIN FROM 9114 05:47:50,360 --> 05:47:50,600 CHICAGO. 9115 05:47:50,600 --> 05:47:55,800 WE SEE SO PRIVILEGED TO BE HERE. 9116 05:47:55,800 --> 05:47:58,600 >> NEXT ON THE STAGE IS KRISTEN 9117 05:47:58,600 --> 05:48:01,000 WHEEDEN KNOWN FOR A LONG TIME. 9118 05:48:01,000 --> 05:48:04,040 KRISTEN IS A FIERCE ADVOCATE FOR 9119 05:48:04,040 --> 05:48:05,320 PATIENTS AND THEIR FAMILIES AND 9120 05:48:05,320 --> 05:48:09,200 IS AN INTERNATIONALLY-RECOGNIZED 9121 05:48:09,200 --> 05:48:16,680 ADVOCATE FOR PORE FERIA AND RARE 9122 05:48:16,680 --> 05:48:16,960 DISEASES. 9123 05:48:16,960 --> 05:48:19,760 WHEN HER SON WAS DIAGNOSED, ONE 9124 05:48:19,760 --> 05:48:25,840 OF EIGHT MAJOR TYPES OF 9125 05:48:25,840 --> 05:48:28,480 POUTHERRIA, KRISTEN LEFT HER 9126 05:48:28,480 --> 05:48:29,400 CAREER AND PIVOTED INTO THE 9127 05:48:29,400 --> 05:48:34,960 WORLD OF RARE DISEASES SHE 9128 05:48:34,960 --> 05:48:35,560 QUICKLY BECAME A RESOURCE FOR 9129 05:48:35,560 --> 05:48:37,320 DOCTORS AS MANY OF RARE DISEASE 9130 05:48:37,320 --> 05:48:38,280 PATIENTS, CAREGIVERS KNOW, 9131 05:48:38,280 --> 05:48:40,360 YOU'RE THE RESOURCE TO DOCTORS. 9132 05:48:40,360 --> 05:48:43,440 I KNOW THAT FROM PERFORM 9133 05:48:43,440 --> 05:48:44,360 PERSPECTIVE TOO. 9134 05:48:44,360 --> 05:48:49,840 IN 2022, KRISTEN LAUNCHED THE 9135 05:48:49,840 --> 05:48:50,560 UNITED POUTHERRIA ASSOCIATION 9136 05:48:50,560 --> 05:48:51,560 AND THIS INTERNATIONAL 9137 05:48:51,560 --> 05:48:54,760 ORGANIZATION IS SUPPORTED BY 9138 05:48:54,760 --> 05:48:55,800 SCIENTIFIC ADVISORY BOARD AND 9139 05:48:55,800 --> 05:48:58,760 EXPERTS AND INNOVATORS AND RARE 9140 05:48:58,760 --> 05:48:59,280 DISEASES. 9141 05:48:59,280 --> 05:49:02,040 KRISTEN ALSO SERVES AS THE 9142 05:49:02,040 --> 05:49:04,040 PRESIDENT OF THE ORGANIZATION, A 9143 05:49:04,040 --> 05:49:08,560 MEMBER OF NIH-SUPPORTED 9144 05:49:08,560 --> 05:49:09,160 CONSORTIUM STEERING COMMITTEE 9145 05:49:09,160 --> 05:49:11,800 AND SERVES ON NUMEROUS BOARDS 9146 05:49:11,800 --> 05:49:15,880 AND PUBLISHING. 9147 05:49:15,880 --> 05:49:20,040 AND FINALLY A WARM WELCOME TO 9148 05:49:20,040 --> 05:49:21,600 JENNIFER BECK. 9149 05:49:21,600 --> 05:49:25,080 JENNIFER IS A MOTHER OF 4 AND AN 9150 05:49:25,080 --> 05:49:26,040 OCCUPATIONAL THERAPIST WHO HAS 9151 05:49:26,040 --> 05:49:30,640 BEEN LIVING WITH EPP SINCE 9152 05:49:30,640 --> 05:49:30,840 BIRTH. 9153 05:49:30,840 --> 05:49:33,960 JENNIFER WAS DIAGNOSED AS AGE 40 9154 05:49:33,960 --> 05:49:36,080 WHEN HER MOTHER CALLED HER TO 9155 05:49:36,080 --> 05:49:38,480 TELL HER ABOUT AN EPISODE OF 9156 05:49:38,480 --> 05:49:39,400 MEDICAL MYSTERIES THAT SOUNDED 9157 05:49:39,400 --> 05:49:42,200 JUST LIKE HER. 9158 05:49:42,200 --> 05:49:48,960 WHEN HER EPP WORSENED, SHE 9159 05:49:48,960 --> 05:49:49,560 FIERCELY PURSUED TREATMENT AND 9160 05:49:49,560 --> 05:49:53,640 WENT FROM LIVING IN THE DARK IN 9161 05:49:53,640 --> 05:49:55,600 CONSTANT PAIN AND FEAR TO LIFE 9162 05:49:55,600 --> 05:49:56,640 IN THE LIGHT. 9163 05:49:56,640 --> 05:49:59,120 IT'S REALLY SPECIAL TO HAVE YOU 9164 05:49:59,120 --> 05:50:03,320 HERE IN PERSON. 9165 05:50:03,320 --> 05:50:04,640 BEFORE WE GET STARTED WITH THE 9166 05:50:04,640 --> 05:50:05,040 DISCUSSION TODAY. 9167 05:50:05,040 --> 05:50:06,760 AND WE ARE RUNNING OVER THE 9168 05:50:06,760 --> 05:50:08,840 TIME, BUT I THINK IT'S REALLY 9169 05:50:08,840 --> 05:50:11,480 IMPORTANT TO TOUCH ON SOME 9170 05:50:11,480 --> 05:50:13,600 REMINDERS ON WHERE WE ARE IN THE 9171 05:50:13,600 --> 05:50:14,960 RARE DISEASE LANDSCAPE AND 9172 05:50:14,960 --> 05:50:18,080 REALLY SET THE TONE FOR WHY THE 9173 05:50:18,080 --> 05:50:20,480 ROLE OF INDUSTRY AND ADVOCACY IS 9174 05:50:20,480 --> 05:50:22,760 REALLY IMPORTANT FOR REALLY 9175 05:50:22,760 --> 05:50:24,360 DRIVING MORE PROGRESS. 9176 05:50:24,360 --> 05:50:26,160 WE HEARD A LOT OF THIS ALREADY 9177 05:50:26,160 --> 05:50:28,960 TODAY AND I'M GOING TO TOUCH ON 9178 05:50:28,960 --> 05:50:30,200 IT AGAIN. 9179 05:50:30,200 --> 05:50:32,760 CLINICAL TRIALS, RARE DISEASE 9180 05:50:32,760 --> 05:50:36,360 CLINICAL TRIALS, ARE REALLY HARD 9181 05:50:36,360 --> 05:50:38,280 TO START AND EVOLVE. 9182 05:50:38,280 --> 05:50:40,800 RELATIONSHIPS WITH ADVOCACY AND 9183 05:50:40,800 --> 05:50:42,000 INDUSTRY CAN REALLY MAKE IT OR 9184 05:50:42,000 --> 05:50:45,400 BREAK IT FOR KIN CALL TRIALS. 9185 05:50:45,400 --> 05:50:45,880 -- CLINICAL TRIALS. 9186 05:50:45,880 --> 05:50:48,800 WE REALLY NEED TO UNDERSTAND 9187 05:50:48,800 --> 05:50:49,640 WHERE THE PATIENTS ARE AND THIS 9188 05:50:49,640 --> 05:50:52,280 IS REALLY IMPORTANT ALSO TO 9189 05:50:52,280 --> 05:50:54,760 IMPROVE THE DIVERSE PER 9190 05:50:54,760 --> 05:50:55,960 PARTICIPATION IN RARE DISEASE 9191 05:50:55,960 --> 05:50:56,200 TRIALS. 9192 05:50:56,200 --> 05:50:59,320 WE KNOW WE HEARD THIS 7000 PLUS 9193 05:50:59,320 --> 05:51:00,360 RARE DISEASES AND THE NUMBER IS 9194 05:51:00,360 --> 05:51:02,040 ACTUALLY HIGHER. 9195 05:51:02,040 --> 05:51:09,280 I'LL STICK WITH THE 700,000 PL 9196 05:51:09,280 --> 05:51:09,880 PLUS. 9197 05:51:09,880 --> 05:51:11,760 BUT ONLY A FEW HUNDRED 9198 05:51:11,760 --> 05:51:13,600 TREATMENTS ARE FDA APPROVED. 9199 05:51:13,600 --> 05:51:17,600 SOME IMPROVING QUALITY OF LIFE, 9200 05:51:17,600 --> 05:51:18,640 SOME ELONGATING LIFE. 9201 05:51:18,640 --> 05:51:21,200 IT JUST VARIES AND SOME MAY NOT 9202 05:51:21,200 --> 05:51:24,280 EVEN HAVE AN IMPACT FOR SOME 9203 05:51:24,280 --> 05:51:24,520 PATIENTS. 9204 05:51:24,520 --> 05:51:26,040 SOME ARE NOT EVEN WELL 9205 05:51:26,040 --> 05:51:28,440 UNDERSTOOD AND RARE DISEASES AND 9206 05:51:28,440 --> 05:51:34,720 TO BE SERIOUS, LIFELONG COMPLEX. 9207 05:51:34,720 --> 05:51:37,160 THAT GIVES YOU A REALLY QUICK 9208 05:51:37,160 --> 05:51:39,400 OVERVIEW WHERE WE ARE. 9209 05:51:39,400 --> 05:51:46,960 SO I'D LIKE TO GET STARTED WITH 9210 05:51:46,960 --> 05:51:54,280 OUR SESSION. 9211 05:51:54,280 --> 05:51:56,520 SHARON, AS A MEMBER OF INDUSTRY, 9212 05:51:56,520 --> 05:51:58,840 AND ONE WHO IS REALLY DEDICATED 9213 05:51:58,840 --> 05:52:01,160 YOUR LIFE TO RARE DISEASE 9214 05:52:01,160 --> 05:52:03,760 ADVOCACY, CAN YOU TALK ABOUT THE 9215 05:52:03,760 --> 05:52:08,440 CHANGES THAT YOU HAVE SEEN, WHAT 9216 05:52:08,440 --> 05:52:09,760 IS REALLY IMPORTANT? 9217 05:52:09,760 --> 05:52:12,360 START FROM YOUR PERSONAL 9218 05:52:12,360 --> 05:52:12,680 EXPERIENCE. 9219 05:52:12,680 --> 05:52:14,080 >> SHARON KING: THANK YOU. 9220 05:52:14,080 --> 05:52:17,000 I THINK YOU KNOW TODAY WE HAVE 9221 05:52:17,000 --> 05:52:19,080 HEARD -- WE CONTINUE TO HEAR 9222 05:52:19,080 --> 05:52:19,440 SIMILAR THINGS. 9223 05:52:19,440 --> 05:52:23,640 WE ARE HEARING THE POWER OF 9224 05:52:23,640 --> 05:52:25,160 PARTNERSHIP. 9225 05:52:25,160 --> 05:52:27,320 WE ARE HEARING DON'T EVER GIVE 9226 05:52:27,320 --> 05:52:27,480 UP. 9227 05:52:27,480 --> 05:52:31,680 WE ARE HEARING HOPE. 9228 05:52:31,680 --> 05:52:33,920 AND I THINK THAT THOSE THEMES 9229 05:52:33,920 --> 05:52:35,680 RESONATE FOR ALL OF US. 9230 05:52:35,680 --> 05:52:38,000 I KNOW THAT THEY DO FOR ME, FROM 9231 05:52:38,000 --> 05:52:40,480 THE DAY MY DAUGHTER WAS 9232 05:52:40,480 --> 05:52:44,840 DIAGNOSED TO THIS VERY MOMENT. 9233 05:52:44,840 --> 05:52:50,320 IN MY ROLE AT ADLEVRON I'M 9234 05:52:50,320 --> 05:52:50,760 INTERNALLY FOCUSED. 9235 05:52:50,760 --> 05:52:52,000 I'M NOT WORKING DIRECTLY WITH 9236 05:52:52,000 --> 05:52:52,320 PATIENTS. 9237 05:52:52,320 --> 05:52:55,400 BUT IF I HAD TO DESCRIBE MY ROLE 9238 05:52:55,400 --> 05:52:56,720 TO YOU IN A COUPLE OF WORDS, IT 9239 05:52:56,720 --> 05:52:59,680 WOULD BE, I'M A STORYTELLER. 9240 05:52:59,680 --> 05:53:02,640 BECAUSE I CONNECT THOSE PATIENT 9241 05:53:02,640 --> 05:53:04,480 STORIES THAT ARE SO IMPORTANT. 9242 05:53:04,480 --> 05:53:05,800 AND I THINK THAT HAS BEEN ONE OF 9243 05:53:05,800 --> 05:53:06,640 OUR MAJOR THEMES TODAY. 9244 05:53:06,640 --> 05:53:09,920 THAT WHEN WE LISTEN, AND WE 9245 05:53:09,920 --> 05:53:11,720 UNDERSTAND THE PATIENT 9246 05:53:11,720 --> 05:53:14,560 EXPERIENCE, WE CAN START TO MAKE 9247 05:53:14,560 --> 05:53:15,280 PROGRESS. 9248 05:53:15,280 --> 05:53:17,600 AND SO, I BRING THOSE STORIES, 9249 05:53:17,600 --> 05:53:20,800 THOSE CONNECTIONS TO THE PATIENT 9250 05:53:20,800 --> 05:53:22,080 EXPERIENCE AND THE URGENCY, THAT 9251 05:53:22,080 --> 05:53:25,240 DEEP URGENCY, THAT PATIENTS FEEL 9252 05:53:25,240 --> 05:53:27,880 AS THEY ARE WAITING FOR A 9253 05:53:27,880 --> 05:53:29,000 POTENTIAL THERAPY. 9254 05:53:29,000 --> 05:53:32,720 BECAUSE AS WE ALL KNOW, MANY 9255 05:53:32,720 --> 05:53:34,600 RARE DISEASE PATIENTS DON'T HAVE 9256 05:53:34,600 --> 05:53:37,520 A MEANINGFUL TREATMENT TO RELY 9257 05:53:37,520 --> 05:53:38,400 ON. 9258 05:53:38,400 --> 05:53:40,240 BUT EVERY DAY, THEIR HOPEFUL FOR 9259 05:53:40,240 --> 05:53:42,000 THAT TREATMENT. 9260 05:53:42,000 --> 05:53:44,040 SO, AND I UNDERSTAND THAT NEED 9261 05:53:44,040 --> 05:53:46,520 AND THAT URGENCY SO WELL BECAUSE 9262 05:53:46,520 --> 05:53:50,280 IN JULY OF 2006, JUST AS MANY OF 9263 05:53:50,280 --> 05:53:53,600 YOU IN THIS AUDITORIUM AND 9264 05:53:53,600 --> 05:53:58,040 LISTENING VIRTUALLY, I HEARD A 9265 05:53:58,040 --> 05:54:00,480 GENETICIST DELIVER THAT 9266 05:54:00,480 --> 05:54:02,320 DIAGNOSIS, THAT CHANGED MY LIFE 9267 05:54:02,320 --> 05:54:04,840 IN A MOMENT'S NOTICE. 9268 05:54:04,840 --> 05:54:08,040 IT CHANGED MY FAMILY'S LIFE IN 9269 05:54:08,040 --> 05:54:10,680 THAT VERY MOMENT. 9270 05:54:10,680 --> 05:54:12,760 AND WE'VE NEVER BEEN THE SAME. 9271 05:54:12,760 --> 05:54:16,040 WE LEARNED THAT OUR DAUGHTER 9272 05:54:16,040 --> 05:54:17,720 WOULD LOSE HER VISION, WOULD 9273 05:54:17,720 --> 05:54:20,320 LOSE HER ABILITY TO WALK, TO 9274 05:54:20,320 --> 05:54:21,440 TALK, TO SWALLOW. 9275 05:54:21,440 --> 05:54:24,440 AND WHEN THIS DISEASE HAD STOLEN 9276 05:54:24,440 --> 05:54:26,320 ALMOST EVERYTHING IT COULD, IT 9277 05:54:26,320 --> 05:54:29,200 WOULD TAKE HER LIFE. 9278 05:54:29,200 --> 05:54:32,400 AND WHEN WE ASKED WHAT MOST ANY 9279 05:54:32,400 --> 05:54:35,400 PARENT WOULD ASK FOR QUESTIONS, 9280 05:54:35,400 --> 05:54:37,000 WHAT DO WE DO? 9281 05:54:37,000 --> 05:54:38,480 WHERE DO WE GO? 9282 05:54:38,480 --> 05:54:41,080 WE LEARNED THIS DISEASE IS SO 9283 05:54:41,080 --> 05:54:41,280 SMALL. 9284 05:54:41,280 --> 05:54:43,960 THERE IS NOT GOING TO BE AN 9285 05:54:43,960 --> 05:54:46,960 ANSWER FOR TAILOR IN HER 9286 05:54:46,960 --> 05:54:48,680 LIFETIME AND MOST LIKELY IN YOUR 9287 05:54:48,680 --> 05:54:48,960 LIFETIME. 9288 05:54:48,960 --> 05:54:54,000 AND I HAVE TO TELL YOU, THAT 9289 05:54:54,000 --> 05:54:54,560 WAS -- IT FELT SO HOPELESS. 9290 05:54:54,560 --> 05:54:59,080 AND FOR ME, HOPE IS LIKE AIR. 9291 05:54:59,080 --> 05:55:01,040 I NEED HOPE EVERY DAY. 9292 05:55:01,040 --> 05:55:03,160 IT'S WHAT KEEPS ME GOING. 9293 05:55:03,160 --> 05:55:08,400 IT'S WHAT KEEPS US ALL GOING. 9294 05:55:08,400 --> 05:55:12,560 SO, IT TOOK ME ALL OF ABOUT AN 9295 05:55:12,560 --> 05:55:14,320 HOUR-AND-A-HALF OF SITTING IN A 9296 05:55:14,320 --> 05:55:18,280 HOT CAR IN A HOT, HUMID SUMMER 9297 05:55:18,280 --> 05:55:21,240 DAY IN CHARLOTTE TO DECIDE THAT 9298 05:55:21,240 --> 05:55:23,120 I COULD NOT WATCH THIS HAPPEN TO 9299 05:55:23,120 --> 05:55:23,760 MY DAUGHTER. 9300 05:55:23,760 --> 05:55:26,440 I WAS GOING TO HAVE TO DO 9301 05:55:26,440 --> 05:55:29,040 SOMETHING BECAUSE I WAS GOING TO 9302 05:55:29,040 --> 05:55:35,320 HAVE TO LIVE THIS ALONG WITH 9303 05:55:35,320 --> 05:55:35,480 HER. 9304 05:55:35,480 --> 05:55:36,680 I KNEW A COUPLE OF THINGS. 9305 05:55:36,680 --> 05:55:39,040 I HAD TO LEARN EVERYTHING I 9306 05:55:39,040 --> 05:55:40,880 COULD ABOUT THIS DISEASE. 9307 05:55:40,880 --> 05:55:41,640 SECONDLY, I WAS NOT GOING TO BE 9308 05:55:41,640 --> 05:55:43,600 ABLE TO DO THIS BY MYSELF. 9309 05:55:43,600 --> 05:55:46,840 I WAS GOING TO HAVE TO HAVE AN 9310 05:55:46,840 --> 05:55:48,240 ARMY ALONG WITH ME. 9311 05:55:48,240 --> 05:55:49,920 AND I ALSO KNEW STRATEGICALLY, I 9312 05:55:49,920 --> 05:55:51,560 WAS GOING TO HAVE TO HAVE PEOPLE 9313 05:55:51,560 --> 05:55:54,760 THAT COULD FILL IN THE GAPS, THE 9314 05:55:54,760 --> 05:55:56,920 THINGS THAT I WAS NOT GOOD AT, 9315 05:55:56,920 --> 05:55:59,120 THE SKILL SETS THAT I DON'T 9316 05:55:59,120 --> 05:56:00,360 HAVE, THEY WERE GOING TO HAVE TO 9317 05:56:00,360 --> 05:56:02,720 FILL IN THOSE GAPS SO WE COULD 9318 05:56:02,720 --> 05:56:06,560 ACHIEVE THIS BIG GOAL, THIS BIG 9319 05:56:06,560 --> 05:56:06,760 DREAM. 9320 05:56:06,760 --> 05:56:08,600 SO, FRIENDS, FAMILY, CAME 9321 05:56:08,600 --> 05:56:12,360 TOGETHER AND WE WERE ABLE TO PUT 9322 05:56:12,360 --> 05:56:12,960 TOGETHER AN ORGANIZATION THAT 9323 05:56:12,960 --> 05:56:16,440 WAS CLEARLY FOCUSED ON RAISING 9324 05:56:16,440 --> 05:56:19,000 THE FUNDS TO SUPPORT RESEARCH. 9325 05:56:19,000 --> 05:56:25,120 AND VERY QUICKLY, BY 2013, WE ON 9326 05:56:25,120 --> 05:56:28,480 FEBRUARY 28, 2013 -- SO 10 YEARS 9327 05:56:28,480 --> 05:56:31,480 AGO TODAY -- WE ANNOUNCED OUR 9328 05:56:31,480 --> 05:56:36,000 SUPPORT OF A GENE THERAPY FOR 9329 05:56:36,000 --> 05:56:36,320 CLN1 DISEASE. 9330 05:56:36,320 --> 05:56:38,440 THAT WAS 10 YEARS AGO. 9331 05:56:38,440 --> 05:56:41,160 THAT'S A REALLY LONG TIME. 9332 05:56:41,160 --> 05:56:41,960 WE'RE GETTING CLOSER AND CLOSER 9333 05:56:41,960 --> 05:56:47,120 TO CLINIC BUT WE ARE STILL 9334 05:56:47,120 --> 05:56:47,360 WAITING. 9335 05:56:47,360 --> 05:56:50,760 AND THAT'S WHY, WHEN I LEARNED 9336 05:56:50,760 --> 05:56:51,880 ABOUT, FOR INSTANCE, THE GENE 9337 05:56:51,880 --> 05:56:53,440 THERAPY CONSORTIUM, I WAS SO 9338 05:56:53,440 --> 05:56:55,920 EXCITED TO HEAR ABOUT THE GOALS 9339 05:56:55,920 --> 05:56:57,720 FOR THIS INITIATIVE. 9340 05:56:57,720 --> 05:56:59,760 >> AND I FORGOT TO MENTION THAT 9341 05:56:59,760 --> 05:57:01,120 SHARON SERVES AS A PATIENT 9342 05:57:01,120 --> 05:57:04,640 ADVOCATE REPRESENTATIVE ON THE 9343 05:57:04,640 --> 05:57:05,520 BE SPOKE GENE THERAPY CONSORTIA. 9344 05:57:05,520 --> 05:57:08,720 >> THANK YOU. 9345 05:57:08,720 --> 05:57:12,160 SO, THE THINGS THAT WERE -- HAVE 9346 05:57:12,160 --> 05:57:15,760 BEEN DIFFICULT FOR TAILOR'S 9347 05:57:15,760 --> 05:57:18,800 TAIL, IS WE HAVE BEEN PART OF 9348 05:57:18,800 --> 05:57:22,880 THIS LONG JOURNEY TO A GENE 9349 05:57:22,880 --> 05:57:23,280 THERAPY. 9350 05:57:23,280 --> 05:57:27,640 WHEN I LOOKED AT THE GOALS TO 9351 05:57:27,640 --> 05:57:30,920 DRIVE GREATER EFFICIENCIES, MORE 9352 05:57:30,920 --> 05:57:32,760 EFFECTIVE GENE THERAPIES, 9353 05:57:32,760 --> 05:57:34,680 POTENTIALLY LESS EXPENSIVE. 9354 05:57:34,680 --> 05:57:38,440 HOW COULD WE BRING DOWN THE COST 9355 05:57:38,440 --> 05:57:39,680 OF GENE THERAPY? 9356 05:57:39,680 --> 05:57:41,000 I WAS JUST EXCITED TO ACTUALLY 9357 05:57:41,000 --> 05:57:44,640 HAVE A CHANCE TO PARTICIPATE 9358 05:57:44,640 --> 05:57:50,440 THROUGH MY EMPLOYER. 9359 05:57:50,440 --> 05:57:51,840 AND I AM VERY HOPEFUL. 9360 05:57:51,840 --> 05:57:53,200 THERE I GO AGAIN. 9361 05:57:53,200 --> 05:57:57,640 BUT THAT KEYWORD, FOR WHAT THIS 9362 05:57:57,640 --> 05:57:59,440 INITIATIVE CAN ACHIEVE. 9363 05:57:59,440 --> 05:58:02,800 OVER HALF OF PATIENTS LIKE MY 9364 05:58:02,800 --> 05:58:03,040 DAUGHTER. 9365 05:58:03,040 --> 05:58:03,840 >> THANK YOU, SHARON. 9366 05:58:03,840 --> 05:58:06,200 I'D LIKE TO TURN THE NEXT 9367 05:58:06,200 --> 05:58:08,560 QUESTION TO SANDRA AND BRIAN. 9368 05:58:08,560 --> 05:58:14,000 WHAT ROLE HAS IMALS -- I AM ALS, 9369 05:58:14,000 --> 05:58:16,040 PLAYED IN INFORMING THE PATIENT 9370 05:58:16,040 --> 05:58:17,680 COMMUNITY IN CLINICAL TRIALS AND 9371 05:58:17,680 --> 05:58:22,760 HOW DID YOU STRUCTURE THE 9372 05:58:22,760 --> 05:58:23,040 ENGAGEMENT? 9373 05:58:23,040 --> 05:58:25,680 THERE IS A LOT SMALLER 9374 05:58:25,680 --> 05:58:30,400 ORGANIZATIONS CAN LEARN FROM Y 9375 05:58:30,400 --> 05:58:31,280 YOU. 9376 05:58:31,280 --> 05:58:34,720 >> BRIAN WALLACH: WE DID TWO 9377 05:58:34,720 --> 05:58:40,480 THINGS, NUMBER 1, WE PUT 9378 05:58:40,480 --> 05:58:45,120 TOGETHER A PLATFORM. 9379 05:58:45,120 --> 05:58:49,840 IT HAD EVERY ALS CLINICAL TRIAL 9380 05:58:49,840 --> 05:58:55,000 LISTED ON IT. 9381 05:58:55,000 --> 05:58:59,600 THAT WAY WE COULD HAVE THE MOST 9382 05:58:59,600 --> 05:59:10,160 COMPREHENSIVE LISTING OF TRIALS 9383 05:59:10,640 --> 05:59:14,440 THAT WERE AVAILABLE TO PATIENTS 9384 05:59:14,440 --> 05:59:19,520 IN THE U.S. AND BEYOND. 9385 05:59:19,520 --> 05:59:27,320 AND NUMBER 2, WE CREATED A 9386 05:59:27,320 --> 05:59:30,720 CLINICAL TRIAL TEAM THAT WORKED 9387 05:59:30,720 --> 05:59:36,360 WITH EVERY COMPANY TO HELP 9388 05:59:36,360 --> 05:59:41,400 INFORM HOW THEY DESIGNED THEIR 9389 05:59:41,400 --> 05:59:43,800 CLINICAL TRIALS. 9390 05:59:43,800 --> 05:59:50,440 AND WE SHARED INFORMATION ABOUT 9391 05:59:50,440 --> 06:00:00,960 THE DESIGN AS PART OF A RATING 9392 06:00:02,520 --> 06:00:06,760 SYSTEM THAT WE MADE PUBLIC. 9393 06:00:06,760 --> 06:00:14,440 AND THAT WAY, WE ARMED THE 9394 06:00:14,440 --> 06:00:18,880 PATIENT WITH INFORMATION ABOUT 9395 06:00:18,880 --> 06:00:23,360 THE TRIAL THAT THEY SAW ON OUR 9396 06:00:23,360 --> 06:00:24,800 WEBSITE. 9397 06:00:24,800 --> 06:00:30,600 AND WE WERE ABLE TO WORK WITH 9398 06:00:30,600 --> 06:00:34,840 INDUSTRY TO MAKE TRIALS MORE 9399 06:00:34,840 --> 06:00:41,200 PATIENT FRIENDLY AND TO ENSURE 9400 06:00:41,200 --> 06:00:45,840 THAT PATIENTS AND CAREGIVERS 9401 06:00:45,840 --> 06:00:50,440 WERE PART OF THE PROCESS FOR 9402 06:00:50,440 --> 06:00:57,480 DESIGNING THE TRIAL. 9403 06:00:57,480 --> 06:01:01,760 ONCE WE DID THAT, WE SHARED IT 9404 06:01:01,760 --> 06:01:05,560 EVERYWHERE BECAUSE WE WANTED TO 9405 06:01:05,560 --> 06:01:10,640 REACH AS MANY PEOPLE AS 9406 06:01:10,640 --> 06:01:12,400 POSSIBLE. 9407 06:01:12,400 --> 06:01:16,320 AND ONE IMPORTANT THING ABOUT 9408 06:01:16,320 --> 06:01:23,040 THAT EXPERIENCE IS THAT WE FOUND 9409 06:01:23,040 --> 06:01:25,640 THAT PATIENTS WANT MORE 9410 06:01:25,640 --> 06:01:32,120 INFORMATION AND THEY WANT HELP 9411 06:01:32,120 --> 06:01:38,480 DECIDING BETWEEN CLINICAL 9412 06:01:38,480 --> 06:01:38,760 TRIALS. 9413 06:01:38,760 --> 06:01:49,320 NOW IF YOU HAVE A RARE DISEASE, 9414 06:01:49,760 --> 06:01:51,760 THAT DOES NOT HAVE THE NUMBER OF 9415 06:01:51,760 --> 06:02:02,240 TRIALS THAT ALS DOES, WE ARE 9416 06:02:06,840 --> 06:02:13,360 TRYING TO CREATE A PLAY BOOK 9417 06:02:13,360 --> 06:02:19,800 THAT YOU CAN USE SO THAT YOU DO 9418 06:02:19,800 --> 06:02:26,440 NOT HAVE TO REINVENT THE WHEEL 9419 06:02:26,440 --> 06:02:32,680 IN TERMS OF WORKING WITH 9420 06:02:32,680 --> 06:02:36,960 INDUSTRY AND RESEARCH. 9421 06:02:36,960 --> 06:02:41,400 THAT WAY YOU CAN LEARN FROM WHAT 9422 06:02:41,400 --> 06:02:44,640 WE DID WELL AND MORE IMPORTANTLY 9423 06:02:44,640 --> 06:02:48,120 WHAT WE MESSED UP. 9424 06:02:48,120 --> 06:02:51,840 THERE ARE A LOT OF THINGS WE 9425 06:02:51,840 --> 06:02:55,160 MESSED UP. 9426 06:02:55,160 --> 06:03:01,280 BUT AT THE END, WE HAVE BUILT A 9427 06:03:01,280 --> 06:03:04,240 GREAT RELATIONSHIP WITH INDUSTRY 9428 06:03:04,240 --> 06:03:11,600 AND WE ARE WORKING TOGETHER. 9429 06:03:11,600 --> 06:03:14,240 WE'RE WORKING TOGETHER TO HELP 9430 06:03:14,240 --> 06:03:22,040 ADVANCE AS MANY TREATMENTS AS 9431 06:03:22,040 --> 06:03:25,640 POSSIBLE BECAUSE IT IS IN ALL OF 9432 06:03:25,640 --> 06:03:31,000 OUR INTERESTS TO HAVE A FULL 9433 06:03:31,000 --> 06:03:36,400 PIPELINE. 9434 06:03:36,400 --> 06:03:46,920 ONE OTHER THING IS THAT IN DOING 9435 06:03:50,200 --> 06:03:54,760 THIS IN YOUR OWN DISEASES, DO 9436 06:03:54,760 --> 06:03:58,280 NOT BE AFRAID TO ASK QUESTIONS 9437 06:03:58,280 --> 06:04:06,240 OR TO ASK PEOPLE TO HELP. 9438 06:04:06,240 --> 06:04:12,760 THAT WAY YOU HAVE THE ABILITY TO 9439 06:04:12,760 --> 06:04:19,600 EMPOWER YOURSELF AND TO IDENTIFY 9440 06:04:19,600 --> 06:04:26,960 THE GAPS THAT YOU CAN HELP FILL 9441 06:04:26,960 --> 06:04:30,880 AND DRIVE FORWARD THROUGH A 9442 06:04:30,880 --> 06:04:32,200 TREATMENT -- TO A TREATMENT. 9443 06:04:32,200 --> 06:04:34,040 >> THAT'S AMAZING. 9444 06:04:34,040 --> 06:04:34,960 THANK YOU. 9445 06:04:34,960 --> 06:04:37,200 IT TRULY -- I THINK IT'S THAT 9446 06:04:37,200 --> 06:04:39,600 SURVEY THAT YOUR TEAM DID IN 9447 06:04:39,600 --> 06:04:40,960 REALLY REACHING OUT TO NOT JUST 9448 06:04:40,960 --> 06:04:43,640 THE PATIENT COMMUNITY, BUT THE 9449 06:04:43,640 --> 06:04:46,760 CAREGIVER COMMUNITY AND GETTING 9450 06:04:46,760 --> 06:04:49,040 REALLY MEANINGFUL OUTCOMES THAT 9451 06:04:49,040 --> 06:04:52,240 MATTERED TO THE FAMILIES. 9452 06:04:52,240 --> 06:04:54,880 THANK YOU. 9453 06:04:54,880 --> 06:04:55,200 THAT'S GREAT. 9454 06:04:55,200 --> 06:04:55,960 I'M GOING TO TURN THE NEXT 9455 06:04:55,960 --> 06:04:58,440 QUESTION TO KRISTEN. 9456 06:04:58,440 --> 06:05:03,280 KRISTEN, YOU HAVE DONE A LOT OF 9457 06:05:03,280 --> 06:05:04,480 WORK IN THE PORE FERIA 9458 06:05:04,480 --> 06:05:05,000 COMMUNITY. 9459 06:05:05,000 --> 06:05:07,160 CAN YOU TALK ABOUT THE PROGRESS 9460 06:05:07,160 --> 06:05:07,800 THAT HAS BEEN MADE IN WORKING 9461 06:05:07,800 --> 06:05:09,600 WITH ADVOCACY AND INDUSTRY AND 9462 06:05:09,600 --> 06:05:11,800 THOSE COLLABORATIONS? 9463 06:05:11,800 --> 06:05:12,720 >> KRISTEN WHEEDEN: THANK YOU 9464 06:05:12,720 --> 06:05:13,640 VERY MUCH. 9465 06:05:13,640 --> 06:05:15,880 I FEEL SO HUMBLED TO BE ON STAGE 9466 06:05:15,880 --> 06:05:18,520 WITH THESE FELLOW ADVOCATES AND 9467 06:05:18,520 --> 06:05:18,840 CAREGIVERS. 9468 06:05:18,840 --> 06:05:20,080 AND LITERALLY BRIAN, YOU'RE 9469 06:05:20,080 --> 06:05:21,520 ABOVE MY HEAD, LIKE 9470 06:05:21,520 --> 06:05:21,920 LARGER-THAN-LIFE. 9471 06:05:21,920 --> 06:05:23,680 AND I FOLLOW YOU ON TWITTER. 9472 06:05:23,680 --> 06:05:25,720 YOU'RE AMAZING. 9473 06:05:25,720 --> 06:05:28,520 >> HARD TO NOT TEAR UP UP HERE. 9474 06:05:28,520 --> 06:05:29,440 >> IT IS. 9475 06:05:29,440 --> 06:05:36,480 SO THERE ARE EIGHT MAIN TYPES OF 9476 06:05:36,480 --> 06:05:41,160 FOREFERIA. 9477 06:05:41,160 --> 06:05:43,080 AND THERE ARE 7-10,000 RARE 9478 06:05:43,080 --> 06:05:47,160 DISEASES WITH ONLY 95% OF THEM 9479 06:05:47,160 --> 06:05:50,280 THAT DON'T HAVE TREATMENT. 9480 06:05:50,280 --> 06:05:52,040 WITHIN THE PORE FERIAS WE HAVE 9481 06:05:52,040 --> 06:06:02,560 THREE FDA APPROVED TREATMENTS. 9482 06:06:05,960 --> 06:06:07,440 THE FIRST ORPHANED DRUG APPROVED 9483 06:06:07,440 --> 06:06:11,920 AFTER THE ONE IN 1983 AND THE 9484 06:06:11,920 --> 06:06:14,040 MANUFACTURER IS HERE EXHIBITING 9485 06:06:14,040 --> 06:06:15,720 HERE TODAY, A TERRIFIC INDUSTRY 9486 06:06:15,720 --> 06:06:16,520 PARTNER. 9487 06:06:16,520 --> 06:06:17,400 AND THEN WE WAITED UNTIL OCTOBER 9488 06:06:17,400 --> 06:06:23,360 OF 2019 FOR SNYESS, A TREATMENT 9489 06:06:23,360 --> 06:06:29,440 FOR ERYTHRO PRO ETIC PORE FERIA. 9490 06:06:29,440 --> 06:06:32,920 AND THEN LAST, WE HAVE THIRD FDA 9491 06:06:32,920 --> 06:06:34,520 APPROVED TREATMENT THAT CAME A 9492 06:06:34,520 --> 06:06:37,640 MONTH LATER IN NOVEMBER OF 2019. 9493 06:06:37,640 --> 06:06:39,720 I WAS AT A COALITION OF PATIENT 9494 06:06:39,720 --> 06:06:41,080 ADVOCACY GROUP MEET WHEN THAT 9495 06:06:41,080 --> 06:06:43,280 WAS ANNOUNCED AND TINA PULLED ME 9496 06:06:43,280 --> 06:06:45,080 UP IN FRONT OF THE MICROPHONE TO 9497 06:06:45,080 --> 06:06:50,520 ANNOUNCE IT IN FRONT OF THE 9498 06:06:50,520 --> 06:07:00,640 GROUP. 9499 06:07:04,760 --> 06:07:06,240 IT TAKES PATIENTS. 9500 06:07:06,240 --> 06:07:07,960 IT TAKES RESEARCHERS. 9501 06:07:07,960 --> 06:07:09,960 IT TAKES EXPERT PHYSICIANS, 9502 06:07:09,960 --> 06:07:11,560 INDUSTRY PARTNERS, REGULATORS, 9503 06:07:11,560 --> 06:07:13,720 ALL WORKING TOGETHER, NOT ONE 9504 06:07:13,720 --> 06:07:15,640 MORE IMPORTANT THAN THE OTHER, 9505 06:07:15,640 --> 06:07:19,680 TO MAKE PROGRESS AND TO CREATE 9506 06:07:19,680 --> 06:07:21,160 INNOVATION AND CHANGE AND MORE 9507 06:07:21,160 --> 06:07:25,600 APPROVED THERAPEUTICS. 9508 06:07:25,600 --> 06:07:26,480 WHICH KIND OF BEGS THE QUESTION 9509 06:07:26,480 --> 06:07:28,240 OF WHO IS THE EXPERT IN THIS? 9510 06:07:28,240 --> 06:07:31,000 WE ACTUALLY HAD A PANEL RECENTLY 9511 06:07:31,000 --> 06:07:32,680 WHERE THEY HAD A PORPHYRIA 9512 06:07:32,680 --> 06:07:34,560 MEETING AND TYPICALLY A PANEL 9513 06:07:34,560 --> 06:07:35,160 WOULD BE A GROUP OF PHYSICIANS 9514 06:07:35,160 --> 06:07:37,400 UP ON STAGE AND THE PATIENTS ARE 9515 06:07:37,400 --> 06:07:39,920 IN THE AUDIENCE. 9516 06:07:39,920 --> 06:07:41,600 IT'S CALLED ASK THE EXPERTS. 9517 06:07:41,600 --> 06:07:43,760 WE DECIDED TO FLIP THE NARRATIVE 9518 06:07:43,760 --> 06:07:48,120 AND WE HAD THE PATIENTS ON STAGE 9519 06:07:48,120 --> 06:07:50,000 AND THE GROUP OF PHYSICIANS IN 9520 06:07:50,000 --> 06:07:52,120 THE AUDIENCE ASKING QUESTIONS. 9521 06:07:52,120 --> 06:07:54,320 AND IT WAS JUST A TERRIFIC WAY 9522 06:07:54,320 --> 06:07:57,400 TO SHOW THE PATIENT EXPERTISE. 9523 06:07:57,400 --> 06:07:59,400 AND AS WE KNOW, PATIENTS SHOULD 9524 06:07:59,400 --> 06:08:01,000 BE AT THE CENTER OF EVERYTHING. 9525 06:08:01,000 --> 06:08:02,960 THEY SHOULD BE INVOLVED IN 9526 06:08:02,960 --> 06:08:03,240 EVERYTHING. 9527 06:08:03,240 --> 06:08:10,640 THEY SHOULD BE INVOLVED IN 9528 06:08:10,640 --> 06:08:13,920 DESIGNING CLINICAL TRIALS. 9529 06:08:13,920 --> 06:08:15,680 THEY SHOULD BE INCLUDED IN 9530 06:08:15,680 --> 06:08:18,520 FIGURING OUT A MEANINGFUL 9531 06:08:18,520 --> 06:08:18,760 ENDPOINT. 9532 06:08:18,760 --> 06:08:20,600 AND OF COURSE, PARTICIPATING IN 9533 06:08:20,600 --> 06:08:21,040 THE CLINICAL TRIALS. 9534 06:08:21,040 --> 06:08:24,720 WHAT WE DO ALL THE TIME AT 9535 06:08:24,720 --> 06:08:27,200 UNITED PORPHYRIA AND PATIENT 9536 06:08:27,200 --> 06:08:29,280 ADVOCACY, IS EDUCATE, REFER, 9537 06:08:29,280 --> 06:08:30,600 RECRUIT AND COMMUNICATE. 9538 06:08:30,600 --> 06:08:34,760 WHAT I SAY TO ALL OUR INDUSTRY 9539 06:08:34,760 --> 06:08:35,360 PARTNERS IS BRING US IN, BRING 9540 06:08:35,360 --> 06:08:35,840 US IN EARLY. 9541 06:08:35,840 --> 06:08:37,520 WE KNOW A LOT. 9542 06:08:37,520 --> 06:08:39,680 PATIENTS WANT TO TALK TO YOU AND 9543 06:08:39,680 --> 06:08:40,960 THERE ARE SO MANY SAVVY PATIENTS 9544 06:08:40,960 --> 06:08:43,800 AND SAVVY PATIENT LEADERS OUT 9545 06:08:43,800 --> 06:08:44,000 THERE. 9546 06:08:44,000 --> 06:08:45,160 YOU HEARD FROM SO MANY TODAY 9547 06:08:45,160 --> 06:08:49,960 THAT ARE JUST BEYOND IMPRESSIVE. 9548 06:08:49,960 --> 06:08:51,200 SO THAT'S WHERE WE ARE IN THE 9549 06:08:51,200 --> 06:08:51,800 PORPHYRIAS. 9550 06:08:51,800 --> 06:08:54,560 >> CAN YOU TALK A LITTLE BIT, 9551 06:08:54,560 --> 06:08:55,160 BECAUSE I MENTIONED IN YOUR 9552 06:08:55,160 --> 06:08:55,760 INTRO, YOU'RE A CAREGIVER TO 9553 06:08:55,760 --> 06:08:59,720 YOUR SON WHO IS EPP. 9554 06:08:59,720 --> 06:09:00,120 THAT PERSPECTIVE. 9555 06:09:00,120 --> 06:09:04,160 HOW YOU HAVE BEEN ABLE TO -- IN 9556 06:09:04,160 --> 06:09:05,720 THE CAREGIVER PERSPECTIVE. 9557 06:09:05,720 --> 06:09:06,000 >> SURE. 9558 06:09:06,000 --> 06:09:08,840 SO, RARE DISEASE AND ADVOCACY IS 9559 06:09:08,840 --> 06:09:09,440 BOTH PERSONAL AND PROFESSIONAL 9560 06:09:09,440 --> 06:09:10,120 TO ME. 9561 06:09:10,120 --> 06:09:13,200 MY SON BRADY, HE IS NOW 17, MY 9562 06:09:13,200 --> 06:09:15,280 YOUNGEST OF THREE BOYS. 9563 06:09:15,280 --> 06:09:19,000 HE WAS DIAGNOSED WITH EPP, 9564 06:09:19,000 --> 06:09:20,720 ERYTHROPRO ETIC PROTOPRO FERIA 9565 06:09:20,720 --> 06:09:21,120 AT THE AGE OF 3. 9566 06:09:21,120 --> 06:09:22,280 HE JUST TURNED FORE. 9567 06:09:22,280 --> 06:09:27,720 AND LIVING WITH EPP IT MEANS 9568 06:09:27,720 --> 06:09:29,120 THAT THE SUN IS YOUR ENEMY. 9569 06:09:29,120 --> 06:09:34,120 IT'S A PHOTO TOXIC DISEASE WHERE 9570 06:09:34,120 --> 06:09:34,800 EXPOSURE CAUSES HORRIFIC 9571 06:09:34,800 --> 06:09:36,480 DEBILITATING PAIN FOR WHICH 9572 06:09:36,480 --> 06:09:42,960 THERE IS NO TREATMENT. 9573 06:09:42,960 --> 06:09:46,080 SO, WHEN HE WAS DIAGNOSED, I 9574 06:09:46,080 --> 06:09:46,680 KIND OF TIPTOED INTO ADVOCACY 9575 06:09:46,680 --> 06:09:48,120 AND RESEARCH IN THIS AREAS AND 9576 06:09:48,120 --> 06:09:48,680 THEN DOVE RIGHT IN. 9577 06:09:48,680 --> 06:09:50,680 AND MY VERY FAVORITE WORD IS, 9578 06:09:50,680 --> 06:09:51,160 HOPE. 9579 06:09:51,160 --> 06:09:52,760 I HAVE NOT HEARD IT DESCRIBED AS 9580 06:09:52,760 --> 06:09:53,680 HOPE IS AIR. 9581 06:09:53,680 --> 06:09:55,360 BUT IT IS. 9582 06:09:55,360 --> 06:09:56,240 HOPE IS POWER. 9583 06:09:56,240 --> 06:09:58,760 WE HEARD THROUGHOUT TODAY. 9584 06:09:58,760 --> 06:10:02,200 AND MY FAVORITE THING TO SAY IS, 9585 06:10:02,200 --> 06:10:02,880 HOPE IS INEFFECTIVE WITHOUT 9586 06:10:02,880 --> 06:10:04,480 ACTION, WHICH IS WORDS I HEARD 9587 06:10:04,480 --> 06:10:07,360 FROM CHRISTOPHER AUSTIN YEARS 9588 06:10:07,360 --> 06:10:10,240 AGO AND IT HAS JUST MOTIVATED ME 9589 06:10:10,240 --> 06:10:12,760 OVER THE YEARS. 9590 06:10:12,760 --> 06:10:16,640 AND IT IS TRUE. 9591 06:10:16,640 --> 06:10:18,800 HOPE IS ACTION. 9592 06:10:18,800 --> 06:10:19,840 >> THANK YOU. 9593 06:10:19,840 --> 06:10:23,880 NEXT QUESTION IS FOR JENNIFER. 9594 06:10:23,880 --> 06:10:28,120 JENNIFER, AS A PATIENT WITH EPP, 9595 06:10:28,120 --> 06:10:30,440 I WANT YOU TO TALK ABOUT HOW YOU 9596 06:10:30,440 --> 06:10:32,400 BENEFITED FROM A THERAPY THAT 9597 06:10:32,400 --> 06:10:34,760 WAS APPROVED FROM A CLINICAL 9598 06:10:34,760 --> 06:10:36,640 TRIAL IN YOUR EXPERIENCE. 9599 06:10:36,640 --> 06:10:39,000 SO WE ARE GOING FROM, YOU KNOW, 9600 06:10:39,000 --> 06:10:39,960 PUTTING INTO THE PERSPECTIVE, 9601 06:10:39,960 --> 06:10:41,640 BRINGING THE ADVOCACY AND 9602 06:10:41,640 --> 06:10:42,960 INDUSTRY COLLABORATION, 9603 06:10:42,960 --> 06:10:45,080 THERAPEUTIC DEVELOPMENT AND NOW 9604 06:10:45,080 --> 06:10:48,520 WE HAVE HOPE THAT TURNED INTO 9605 06:10:48,520 --> 06:10:49,040 SOMETHING. 9606 06:10:49,040 --> 06:10:51,240 >> JENNIFER BECK: HOPE IN 9607 06:10:51,240 --> 06:10:51,560 ACTION, YES. 9608 06:10:51,560 --> 06:10:53,440 SO I WAS BORN WITH EPP AND YOU 9609 06:10:53,440 --> 06:10:54,760 ALREADY HEARD A LITTLE BIT ABOUT 9610 06:10:54,760 --> 06:10:55,040 THAT. 9611 06:10:55,040 --> 06:10:57,840 I'LL TELL YOU ABOUT THE DAILY 9612 06:10:57,840 --> 06:10:58,360 LIFE, THOUGH. 9613 06:10:58,360 --> 06:11:00,840 FOR MOST OF MY LIFE,, WITHIN TWO 9614 06:11:00,840 --> 06:11:03,400 MINUTES OF EXPOSURE TO SUNLIGHT, 9615 06:11:03,400 --> 06:11:05,760 MY SKIN WOULD BECOME HOT AND 9616 06:11:05,760 --> 06:11:06,960 ITCHY. 9617 06:11:06,960 --> 06:11:07,960 IN ABOUT 5 MINUTES I WOULD FEEL 9618 06:11:07,960 --> 06:11:10,120 THE BURNING SENSATION OF A HOT 9619 06:11:10,120 --> 06:11:12,360 IRON ABOUT ONE INCH AWAY FROM MY 9620 06:11:12,360 --> 06:11:12,560 SKIN. 9621 06:11:12,560 --> 06:11:15,920 AND IN 10 MINUTES, THEREBY WOULD 9622 06:11:15,920 --> 06:11:16,520 BE AN EXPLOSION OF HEAT AND 9623 06:11:16,520 --> 06:11:16,720 PAIN. 9624 06:11:16,720 --> 06:11:18,600 THE REACTIONS WOULD BE 9625 06:11:18,600 --> 06:11:20,520 EXACERBATED BY THE WIND AND IF I 9626 06:11:20,520 --> 06:11:22,400 WAS IN THE SHADE, THE SUN WOULD 9627 06:11:22,400 --> 06:11:25,040 BE REFLECTED BY SAND, CEMENT, 9628 06:11:25,040 --> 06:11:25,400 WATER. 9629 06:11:25,400 --> 06:11:28,560 IT WOULD BRING ON AN EXQUISITE 9630 06:11:28,560 --> 06:11:29,200 PAIN THAT COULD MAKE YOU THINK 9631 06:11:29,200 --> 06:11:30,280 YOU WERE GOING TO LOSE YOUR 9632 06:11:30,280 --> 06:11:30,880 MIND. 9633 06:11:30,880 --> 06:11:33,960 RECOVERY WOULD TAKE 3-5 DAYS AT 9634 06:11:33,960 --> 06:11:35,040 WHICH POINT IT WOULD BE 9635 06:11:35,040 --> 06:11:38,720 COMPLETELY OUT OF THE SUNLIGHT. 9636 06:11:38,720 --> 06:11:40,960 I WOULD HAVE NO TOLERANCE FOR 9637 06:11:40,960 --> 06:11:41,960 THE SUN AND I COULDN'T USE MY 9638 06:11:41,960 --> 06:11:45,200 HAND TO BRUSH MY HAIR OR WASH A 9639 06:11:45,200 --> 06:11:45,360 DISH. 9640 06:11:45,360 --> 06:11:49,120 FOR 40 YEARS, I DESCRIBED MYSELF 9641 06:11:49,120 --> 06:11:51,840 AS BEING ALLERGIC TO THE SUN, 9642 06:11:51,840 --> 06:11:52,600 WHICH IS A TERRIBLE WAY OF 9643 06:11:52,600 --> 06:11:54,240 DESCRIBING EPP BUT I HAD NO 9644 06:11:54,240 --> 06:11:56,240 DIAGNOSIS AND HO EXPLANATION FOR 9645 06:11:56,240 --> 06:11:56,880 MY SYMPTOMS. 9646 06:11:56,880 --> 06:12:00,280 I WAS A SHADOW JUMPER RUNNING 9647 06:12:00,280 --> 06:12:01,360 FROM SHADY SPOT TO SHADY SPOT, 9648 06:12:01,360 --> 06:12:04,400 HUDDLING UNDER HATS, COATS AND 9649 06:12:04,400 --> 06:12:05,400 GLOVES, WEARING LONG PERHAPS AND 9650 06:12:05,400 --> 06:12:06,680 SNEAKERS, ESPECIALLY ON THE 9651 06:12:06,680 --> 06:12:10,400 HOTTEST DAYS OF THE YEAR. 9652 06:12:10,400 --> 06:12:12,200 EVERY DAY, EVERY DECISION WAS 9653 06:12:12,200 --> 06:12:13,560 DOMINATED BY EPP. 9654 06:12:13,560 --> 06:12:16,320 WHEN I DROVE TO WORK OR THE 9655 06:12:16,320 --> 06:12:16,840 GROCERY STORE, I WOULD BE 9656 06:12:16,840 --> 06:12:19,800 SHROUDED BY HEAVY JEAN JACKETS 9657 06:12:19,800 --> 06:12:20,080 AND GLOVES. 9658 06:12:20,080 --> 06:12:21,400 I WOULD CAREFULLY SHADE EVERY 9659 06:12:21,400 --> 06:12:22,760 INCH OF MY SKIN. 9660 06:12:22,760 --> 06:12:24,400 A TRIP INTO THE STORE WOULD 9661 06:12:24,400 --> 06:12:27,560 BECOME A JOURNEY TO HELL AS I 9662 06:12:27,560 --> 06:12:31,360 TRIED TO PARK AS CLOSING AS I 9663 06:12:31,360 --> 06:12:32,480 COULD TO THE DOOR AND -- HOLLER 9664 06:12:32,480 --> 06:12:35,400 AT THEM NOT TO DOTTLE AS MOMMY'S 9665 06:12:35,400 --> 06:12:37,920 SKIN WAS ON FIRE. 9666 06:12:37,920 --> 06:12:40,440 A BUSINESS MEETING WOULD TURN 9667 06:12:40,440 --> 06:12:42,400 AWKWARD WHEN SOMEBODY WOULD SAY 9668 06:12:42,400 --> 06:12:45,040 LET'S SIT OUTSIDE IN THE SHADE. 9669 06:12:45,040 --> 06:12:46,840 I'D HAVE TO DECLINE OR SUFFER IN 9670 06:12:46,840 --> 06:12:47,840 SILENCE. 9671 06:12:47,840 --> 06:12:48,760 EPP DOESN'T JUST EFFECT THE 9672 06:12:48,760 --> 06:12:50,560 INDIVIDUAL PATIENT, IT EFFECTS 9673 06:12:50,560 --> 06:12:51,120 THE WHOLE FAMILY. 9674 06:12:51,120 --> 06:12:54,200 I HAVE A SUPPORTIVE FAMILY WHO 9675 06:12:54,200 --> 06:12:54,880 ALWAYS BELIEVED ME AND I WAS 9676 06:12:54,880 --> 06:12:57,600 SURROUNDED BY SHADE HEROES BUT I 9677 06:12:57,600 --> 06:12:59,200 STILL MISS SO VERY MUCH, TRIPS 9678 06:12:59,200 --> 06:13:01,440 OUT TO THE BEACH, HAVING TO HIDE 9679 06:13:01,440 --> 06:13:03,240 INSIDE OUR VACATION RENTALS, 9680 06:13:03,240 --> 06:13:05,320 WATCHING MY KIDS SOCCER GAMES 9681 06:13:05,320 --> 06:13:10,120 FROM THE CAR IN THE PARKING LOT. 9682 06:13:10,120 --> 06:13:12,240 MY MOTHER SAW THAT T.V. SHOW. 9683 06:13:12,240 --> 06:13:14,400 THAT'S HOW I GOT MYSELF 9684 06:13:14,400 --> 06:13:15,720 DIAGNOSED AT 40. 9685 06:13:15,720 --> 06:13:18,280 I DID SOME RESEARCH. 9686 06:13:18,280 --> 06:13:19,360 GOT A ORDER FOR LAB WORK DOWN 9687 06:13:19,360 --> 06:13:21,280 THE STREET AND THEN I GOT MY 9688 06:13:21,280 --> 06:13:22,280 DIAGNOSIS. 9689 06:13:22,280 --> 06:13:23,560 BUT AT THAT POINT, HAVING THAT 9690 06:13:23,560 --> 06:13:25,520 DIAGNOSIS AT 40, I LEARNED THERE 9691 06:13:25,520 --> 06:13:27,560 WAS A MEDICATION BEING USED 9692 06:13:27,560 --> 06:13:28,200 SUCCESSFULLY IN OTHER COUNTRIES 9693 06:13:28,200 --> 06:13:29,200 TO TREAT EPP. 9694 06:13:29,200 --> 06:13:31,040 I HAD HOPED FOR A TREATMENT FOR 9695 06:13:31,040 --> 06:13:34,480 MYSELF SOME DAY AND I HELD 9696 06:13:34,480 --> 06:13:34,800 TIGHT. 9697 06:13:34,800 --> 06:13:38,880 IN 2015, I WROTE MY FIRST LETTER 9698 06:13:38,880 --> 06:13:40,680 TO THE FDA REQUESTING THEY 9699 06:13:40,680 --> 06:13:41,680 ACCELERATE THE APPROVAL OF THAT 9700 06:13:41,680 --> 06:13:42,440 TREATMENT US AND I DIDN'T THINK 9701 06:13:42,440 --> 06:13:43,360 TOO MUCH ABOUT IT. 9702 06:13:43,360 --> 06:13:44,480 I KEPT TO THE SHADOWS. 9703 06:13:44,480 --> 06:13:48,200 I KEPT WORKING AND LIVING WITH 9704 06:13:48,200 --> 06:13:49,040 EPP. 9705 06:13:49,040 --> 06:13:51,280 ON APRIL 21 OF 2017, EVERYTHING 9706 06:13:51,280 --> 06:13:53,240 CHANGED AND MY LIFE TURNED 9707 06:13:53,240 --> 06:13:54,480 UPSIDE DOWN. 9708 06:13:54,480 --> 06:13:57,360 THAT'S WHEN I MET KRISTEN. 9709 06:13:57,360 --> 06:13:59,280 I WAS AT WORK ON A FRIDAY 9710 06:13:59,280 --> 06:14:01,640 MORNING SITTING AT MY COMPUTER 9711 06:14:01,640 --> 06:14:02,240 AND I SENTENCED WHAT I THOUGHT 9712 06:14:02,240 --> 06:14:04,400 WAS A REACTION TO SUNLIGHT 9713 06:14:04,400 --> 06:14:04,800 COMING ON. 9714 06:14:04,800 --> 06:14:07,240 I WAS GETTING TINGLY, HOT AND 9715 06:14:07,240 --> 06:14:07,920 ITCHY AND UNCOMFORTABLE. 9716 06:14:07,920 --> 06:14:09,320 I WAS SHOCKED TO REALIZE I WAS 9717 06:14:09,320 --> 06:14:11,880 HAVING AN EPP REACTION TO THE 9718 06:14:11,880 --> 06:14:13,480 LIGHTS IN MY OFFICE. 9719 06:14:13,480 --> 06:14:16,560 I WAS TERRIFIED. 9720 06:14:16,560 --> 06:14:18,560 I TO RUN OUTSIDE OF MY PLACE OF 9721 06:14:18,560 --> 06:14:19,760 EMPLOYMENT AND I WAS ASSAULTED 9722 06:14:19,760 --> 06:14:22,760 IN EVERY SPACE OF THE BUILDING 9723 06:14:22,760 --> 06:14:24,760 RUNNING OUTSIDE WAS NO HELP. 9724 06:14:24,760 --> 06:14:26,640 THE SUN WAS BOUNCING OFF THE 9725 06:14:26,640 --> 06:14:28,240 PAVEMENT AS A COWARD IN THE 9726 06:14:28,240 --> 06:14:28,760 SHADE. 9727 06:14:28,760 --> 06:14:31,360 IT FELT LIKE HOT BOILING OIL WAS 9728 06:14:31,360 --> 06:14:33,160 POURING ON MY SKIN AND MY BRAIN 9729 06:14:33,160 --> 06:14:35,320 WAS EXPLODING IN FEAR AND PANIC. 9730 06:14:35,320 --> 06:14:37,240 I CALLED MY HUSBAND SOBBING AND 9731 06:14:37,240 --> 06:14:39,840 HE TOLD ME TO COME HOME. 9732 06:14:39,840 --> 06:14:43,600 A COWORKER TOLD ME HE SAW ME 9733 06:14:43,600 --> 06:14:44,600 ENTER THE BUILDING TO GET MY 9734 06:14:44,600 --> 06:14:46,760 THINGS AND THE PANIC AND FEAR ON 9735 06:14:46,760 --> 06:14:48,480 MY FACE WAS PALPABLE. 9736 06:14:48,480 --> 06:14:49,600 IT BRINGS ME BACK. 9737 06:14:49,600 --> 06:14:49,880 IT'S HARD. 9738 06:14:49,880 --> 06:14:52,680 THERE IS PTSD WITH THE DISEASE. 9739 06:14:52,680 --> 06:14:55,440 I DROVE HOME IN TEARS, MY SKIN 9740 06:14:55,440 --> 06:14:56,040 WAS ON FIRE AND THERE WAS NO 9741 06:14:56,040 --> 06:14:57,920 PLACE FOR ME TO GO. 9742 06:14:57,920 --> 06:15:00,560 MY EPP WAS EXACERBATED CAUSE WAS 9743 06:15:00,560 --> 06:15:02,640 UNKNOWN AND INCLUDED NOW INTENSE 9744 06:15:02,640 --> 06:15:05,720 REACTION TO ALL VISIBLE LIGHT, 9745 06:15:05,720 --> 06:15:08,600 SUNLIGHT, INCANDESCENT BULBS, 9746 06:15:08,600 --> 06:15:11,280 HALOGEN, LED, FLUORESCENT, 9747 06:15:11,280 --> 06:15:13,880 COMPUTER SCREENS AND CELL 9748 06:15:13,880 --> 06:15:14,520 PHONES. 9749 06:15:14,520 --> 06:15:16,720 I JUST LIST THOSE ALL OFF SO I 9750 06:15:16,720 --> 06:15:20,520 TRIED EVERY KIND OF LIGHTBULB. 9751 06:15:20,520 --> 06:15:21,640 WITH EXTREME PRECAUTIONS TO 9752 06:15:21,640 --> 06:15:24,360 AVOID SOURCES OF LIGHT, I 9753 06:15:24,360 --> 06:15:25,120 REMAINED IN CONSTANT PAIN AND 9754 06:15:25,120 --> 06:15:26,920 LIVED IN FEAR OF EXPOSURE TO ANY 9755 06:15:26,920 --> 06:15:27,520 LIGHT SOURCE. 9756 06:15:27,520 --> 06:15:29,640 NO MEDICATION FOR THE PAIN 9757 06:15:29,640 --> 06:15:31,160 RELIEF. 9758 06:15:31,160 --> 06:15:31,880 NIGHTS WERE SLEEPLESS. 9759 06:15:31,880 --> 06:15:34,840 MY MENTAL HEALTH WAS SUFFERING. 9760 06:15:34,840 --> 06:15:36,240 I COMMUNICATED WITH EXPERTS. 9761 06:15:36,240 --> 06:15:39,080 I TALKED TO THE FDA LOOKING FOR 9762 06:15:39,080 --> 06:15:40,880 ACCESS TO THE ONLY CLINICALLY 9763 06:15:40,880 --> 06:15:42,880 PROVEN TREATMENT FOR EPP. 9764 06:15:42,880 --> 06:15:46,800 IT WASN'T IN THE U.S. YET. 9765 06:15:46,800 --> 06:15:48,640 DR. LINDER IN SWITZERLAND AGREED 9766 06:15:48,640 --> 06:15:52,320 TO PROVIDE TREATMENT AND I HAD 9767 06:15:52,320 --> 06:15:56,800 MY FIRST IMPLANT ON AUGUST 420 9768 06:15:56,800 --> 06:15:57,840 42017. 9769 06:15:57,840 --> 06:16:00,640 HAVING TO TRAVEL TO ZURICH AND I 9770 06:16:00,640 --> 06:16:01,840 COULDN'T TOLERATE ANY LIGHT, WAS 9771 06:16:01,840 --> 06:16:03,360 ONE OF THE MOST TRAUMATIC 9772 06:16:03,360 --> 06:16:05,480 EXPERIENCES OF MY LIFE. 9773 06:16:05,480 --> 06:16:06,720 I COULD NOT BE EXPOSED TO ANY 9774 06:16:06,720 --> 06:16:09,560 LIGHT BUT I HAD TO ENTER THE 9775 06:16:09,560 --> 06:16:12,280 AIRPORT, HI TO GO TO SECURITY 9776 06:16:12,280 --> 06:16:12,760 AND GET ON THE PLANE. 9777 06:16:12,760 --> 06:16:14,000 MY HUSBAND WAS THE CAREGIVER FOR 9778 06:16:14,000 --> 06:16:15,800 THIS TRIP AND I WAS HEAVILY 9779 06:16:15,800 --> 06:16:17,200 SEDATED IN A WHEELCHAIR. 9780 06:16:17,200 --> 06:16:20,120 I WAS REPEATEDLY EXPOSED TO 9781 06:16:20,120 --> 06:16:20,320 LIGHT. 9782 06:16:20,320 --> 06:16:23,360 AFTER I MET WITH DR. LENDER IN 9783 06:16:23,360 --> 06:16:25,120 SWITZERLAND, I FELT HOPEFUL I 9784 06:16:25,120 --> 06:16:27,360 WOULD HAVE SOME RELIEF FROM MY 9785 06:16:27,360 --> 06:16:30,320 EMPTPP ALTHOUGH SHE WAS CAUTIOUS 9786 06:16:30,320 --> 06:16:32,120 AND SUGGESTED I WOULD ONLY GET 9787 06:16:32,120 --> 06:16:33,360 PARTIAL RESULTS BECAUSE MY CASE 9788 06:16:33,360 --> 06:16:34,120 WAS SO EXTREME. 9789 06:16:34,120 --> 06:16:36,440 AFTER THAT IMPLANT, I BEGAN 9790 06:16:36,440 --> 06:16:38,960 MEASURING THE RESULTS AND 9791 06:16:38,960 --> 06:16:40,040 PERCENTAGES AS THE HOURS PASSED. 9792 06:16:40,040 --> 06:16:42,360 IT'S 2% BETTER. 9793 06:16:42,360 --> 06:16:43,760 IT'S 7% BETTER. 9794 06:16:43,760 --> 06:16:47,360 I KEPT A JOURNAL. 9795 06:16:47,360 --> 06:16:48,600 OPEN THE BLINDS TWO INCHES, IT'S 9796 06:16:48,600 --> 06:16:48,920 10% BETTER. 9797 06:16:48,920 --> 06:16:51,200 BY THE TIME I FLEW HOME IT WAS 9798 06:16:51,200 --> 06:16:51,800 20% BETTER. 9799 06:16:51,800 --> 06:16:54,280 WITHIN TWO WEEKS OF MY FIRST 9800 06:16:54,280 --> 06:16:56,200 IMPLANT I WAS BACK TO WORKING 40 9801 06:16:56,200 --> 06:16:58,760 HOURS A WEEK WITH LITTLE TO NO 9802 06:16:58,760 --> 06:16:59,360 REACTION TO ANY LIGHT SOURCE. 9803 06:16:59,360 --> 06:17:01,840 I WAS ATTENDING MY KIDS SCHOOL 9804 06:17:01,840 --> 06:17:05,200 CONFERENCES AND WATCHING MY KIDS 9805 06:17:05,200 --> 06:17:07,560 PLAY SOCCER. 9806 06:17:07,560 --> 06:17:09,680 I TRAVELED TO SWITZERLAND 18 9807 06:17:09,680 --> 06:17:11,080 TIMES OVER THE NEXT THREE YEARS. 9808 06:17:11,080 --> 06:17:12,920 THAT FIRST YEAR NONE OF THE 9809 06:17:12,920 --> 06:17:14,720 EXPENSES WERE COVERED BY HEALTH 9810 06:17:14,720 --> 06:17:14,960 INSURANCE. 9811 06:17:14,960 --> 06:17:17,640 WE TOOK A SECOND MORTGAGE 9812 06:17:17,640 --> 06:17:18,040 AGAINST OUR HOUSE. 9813 06:17:18,040 --> 06:17:19,000 FRIENDS AND FAMILY HELD 9814 06:17:19,000 --> 06:17:20,600 FUNDRAISERS FOR US. 9815 06:17:20,600 --> 06:17:22,200 WE RECEIVED GIFTS LARGE AND 9816 06:17:22,200 --> 06:17:25,360 SMALL TO COVER THE 120,000 9817 06:17:25,360 --> 06:17:25,800 DOLLARS IN EXPENSES. 9818 06:17:25,800 --> 06:17:26,440 EVEN AFTER IT WAS COVERED BY MY 9819 06:17:26,440 --> 06:17:28,680 INSURANCE, WE HAD TO PAY ALMOST 9820 06:17:28,680 --> 06:17:30,000 20,000 DOLLARS UPFRONT AND 9821 06:17:30,000 --> 06:17:31,960 SUBMIT FOR REIMBURSEMENT PLUS 9822 06:17:31,960 --> 06:17:34,480 PAY FOR TRAVEL TO SWITZERLAND 9823 06:17:34,480 --> 06:17:35,080 EVERY EIGHT WEEKS. 9824 06:17:35,080 --> 06:17:36,680 ALL THAT WORK FOR ADVOCATING FOR 9825 06:17:36,680 --> 06:17:41,120 ACCESS TO TREATMENT BY THE PRO 9826 06:17:41,120 --> 06:17:44,120 FORIA PATIENTS LED TO APPROVAL 9827 06:17:44,120 --> 06:17:45,520 IN THE NICK OF TIME. 9828 06:17:45,520 --> 06:17:47,360 I GOT MY LAST TREATMENT IN 9829 06:17:47,360 --> 06:17:50,760 SWITZERLAND MARCH 23, 2020, DAYS 9830 06:17:50,760 --> 06:17:54,200 AFTER THE WORLD WENT INTO COVID 9831 06:17:54,200 --> 06:17:56,000 LOCKDOWN. 9832 06:17:56,000 --> 06:17:57,680 THAT'S A SEPARATE STORY. 9833 06:17:57,680 --> 06:18:00,000 NOT EVERY PATIENT WITH EPP 9834 06:18:00,000 --> 06:18:01,080 RESPONDS AS WELL AS I HAVE TO 9835 06:18:01,080 --> 06:18:02,240 TREATMENT WITH SINNESS AND NOW 9836 06:18:02,240 --> 06:18:04,080 THERE ARE MORE TREATMENTS MOVING 9837 06:18:04,080 --> 06:18:04,760 THROUGH CLINICAL TRIALS. 9838 06:18:04,760 --> 06:18:07,680 FOR ME, THE BLINDS ARE OPEN, THE 9839 06:18:07,680 --> 06:18:10,520 LITHE ARE ON AND I'M LIVING PAIN 9840 06:18:10,520 --> 06:18:12,320 FREE DAY AFTER DAY, NIGHT AFTER 9841 06:18:12,320 --> 06:18:12,520 NIGHT. 9842 06:18:12,520 --> 06:18:14,680 THE TRANSFORMATION FROM BEING 9843 06:18:14,680 --> 06:18:16,840 DISABLED WITH EPP TO BEING 9844 06:18:16,840 --> 06:18:18,760 UTTERLY FREE FROM PAIN AND FREE 9845 06:18:18,760 --> 06:18:29,360 FROM FEAR HAS BEEN LIFE CHANG 9846 06:18:30,720 --> 06:18:31,200 CHANGING. 9847 06:18:31,200 --> 06:18:31,440 >> WOW. 9848 06:18:31,440 --> 06:18:35,640 I DON'T KNOW EVEN WHAT TO SAY. 9849 06:18:35,640 --> 06:18:37,720 SHIVERS, YOU KNOW? 9850 06:18:37,720 --> 06:18:40,640 THIS IS WHY I WANTED JENNIFER TO 9851 06:18:40,640 --> 06:18:42,560 SHARE HER PERSONAL STORY WITH 9852 06:18:42,560 --> 06:18:45,120 HOW A TREATMENT HAS IMPACTED HER 9853 06:18:45,120 --> 06:18:46,560 DAILY LIFE NOW. 9854 06:18:46,560 --> 06:18:53,680 I MEAN, THE LIGHTS ON THE STAGE. 9855 06:18:53,680 --> 06:18:56,560 IT'S AMAZING. 9856 06:18:56,560 --> 06:18:58,960 THIS IS WHY WE REALLY NEED 9857 06:18:58,960 --> 06:19:01,760 ADVOCACY IN INDUSTRY TO WORK 9858 06:19:01,760 --> 06:19:06,760 TOGETHER, TO ACCELERATE 9859 06:19:06,760 --> 06:19:08,440 PROGRESS, HEARD FROM BRIAN, 9860 06:19:08,440 --> 06:19:09,920 SANDRA, WHAT THEY ARE DOING IN 9861 06:19:09,920 --> 06:19:13,840 THE ALS COMMUNITY, SHARON IS 9862 06:19:13,840 --> 06:19:17,680 DOING IN THE PATIENT ADVOCACY 9863 06:19:17,680 --> 06:19:18,680 COMMUNITY GENE THERAPY 9864 06:19:18,680 --> 06:19:21,520 CONSORTIUM, AND KRISTEN AND 9865 06:19:21,520 --> 06:19:22,400 JENNIFER. 9866 06:19:22,400 --> 06:19:24,200 WHAT I'D LIKE TO DO IS MAYBE 9867 06:19:24,200 --> 06:19:26,560 ALLOW EACH OF OUR PANELISTS LIKE 9868 06:19:26,560 --> 06:19:29,160 A MINUTE -- ARE WE DOING GOOD ON 9869 06:19:29,160 --> 06:19:29,360 TIME? 9870 06:19:29,360 --> 06:19:29,560 OKAY. 9871 06:19:29,560 --> 06:19:31,800 I WANT TO BE CONSCIOUS OF THAT. 9872 06:19:31,800 --> 06:19:34,960 REALLY TO TAKE AWAY OR 9873 06:19:34,960 --> 06:19:35,640 CONSIDERATIONS WE HAVEN'T 9874 06:19:35,640 --> 06:19:39,840 TOUCHED ON THAT YOU THINK OTHER 9875 06:19:39,840 --> 06:19:40,440 ORGANIZATIONS -- THERE ARE A LOT 9876 06:19:40,440 --> 06:19:43,840 OF ORGANIZATIONS HERE 9877 06:19:43,840 --> 06:19:46,360 REPRESENTATIVE OF OTHER 9878 06:19:46,360 --> 06:19:47,640 ULTRARARE DISEASE GROUPS AS 9879 06:19:47,640 --> 06:19:50,480 WELL -- THAT CAN TAKE AWAY TO 9880 06:19:50,480 --> 06:19:53,040 REALLY PUT HOPE INTO ACTION. 9881 06:19:53,040 --> 06:19:55,720 WE HEAR THAT WORD HOPE, A LOT. 9882 06:19:55,720 --> 06:19:58,720 BUT REALLY, I MEAN, THAT IS WHAT 9883 06:19:58,720 --> 06:19:59,360 IT IS FOR RARE DISEASES. 9884 06:19:59,360 --> 06:19:59,960 IT'S THE HOPE THAT EVERYONE 9885 06:19:59,960 --> 06:20:00,320 HOLDS ON TO. 9886 06:20:00,320 --> 06:20:02,960 AND I'LL START WITH YOU, SANDRA. 9887 06:20:02,960 --> 06:20:04,040 I KNOW YOU WERE TRANSCRIBING FOR 9888 06:20:04,040 --> 06:20:06,760 BRIAN BUT I WANT TO HEAR FROM 9889 06:20:06,760 --> 06:20:09,760 YOU NOW TOO. 9890 06:20:09,760 --> 06:20:11,560 >> SANDRA ABREVAYA: I MEAN THE 9891 06:20:11,560 --> 06:20:16,280 STORY THAT WE ALL JUST HEARD IS 9892 06:20:16,280 --> 06:20:17,440 THAT FUEL THAT WE ALL NEED 9893 06:20:17,440 --> 06:20:20,560 BECAUSE THAT'S ALL ANY OF US 9894 06:20:20,560 --> 06:20:22,880 WANT, RIGHT? 9895 06:20:22,880 --> 06:20:25,360 WE JUST -- YOU KNOW, WE WANT TO 9896 06:20:25,360 --> 06:20:27,680 BE ON THE CUSP OF WHEN IT 9897 06:20:27,680 --> 06:20:29,960 TRANSFORMS TO TREATABLES. 9898 06:20:29,960 --> 06:20:32,120 SO, I DON'T KNOW WHY ANYONE 9899 06:20:32,120 --> 06:20:33,760 WOULD EVER SUGGEST TO A RARE 9900 06:20:33,760 --> 06:20:35,560 DISEASE PATIENT THAT THEY SHOULD 9901 06:20:35,560 --> 06:20:39,920 LIVE WITHOUT HOPE. 9902 06:20:39,920 --> 06:20:40,200 IT'S ABSURD. 9903 06:20:40,200 --> 06:20:41,400 IT TAKES A LOT OF ENERGY TO 9904 06:20:41,400 --> 06:20:44,120 ADVOCATE AND IT TAKES A LOT OF 9905 06:20:44,120 --> 06:20:45,160 ENERGY TO TAKE ACTION. 9906 06:20:45,160 --> 06:20:46,320 AND IF YOU DON'T HAVE HOPE, YOU 9907 06:20:46,320 --> 06:20:48,800 HAVE GOT NOTHING IN THE TANK TO 9908 06:20:48,800 --> 06:20:51,120 RUN ON. 9909 06:20:51,120 --> 06:20:52,600 SO, I'M JUST GRATEFUL TO BE IN 9910 06:20:52,600 --> 06:20:53,680 THIS COMMUNITY AND TO BE 9911 06:20:53,680 --> 06:20:56,520 SURROUNDED BY STORIES OF OTHER 9912 06:20:56,520 --> 06:20:57,760 PEOPLE WHO HAVE BROKEN THROUGH, 9913 06:20:57,760 --> 06:21:01,120 BECAUSE THAT GIVES US THE ENERGY 9914 06:21:01,120 --> 06:21:02,240 TO KEEP GOING. 9915 06:21:02,240 --> 06:21:02,600 SO THANK YOU. 9916 06:21:02,600 --> 06:21:05,440 >> THANK YOU, SANDRA. 9917 06:21:05,440 --> 06:21:07,360 DOES BRIAN WANT TO ADD ANYTHING 9918 06:21:07,360 --> 06:21:09,960 TO THAT TOO? 9919 06:21:09,960 --> 06:21:15,040 >> BRIAN WALLACH: ONLY ONE 9920 06:21:15,040 --> 06:21:15,560 THING. 9921 06:21:15,560 --> 06:21:24,280 IF YOU ARE A PATIENT OR A 9922 06:21:24,280 --> 06:21:28,320 CAREGIVER IN THE AUDIENCE, YOU 9923 06:21:28,320 --> 06:21:32,000 PROBABLY KNOW THIS. 9924 06:21:32,000 --> 06:21:41,960 BUT IT IS IMPORTANT TO SAY BE 9925 06:21:41,960 --> 06:21:42,160 BOLD. 9926 06:21:42,160 --> 06:21:47,800 REMEMBER THAT FEW PEOPLE 9927 06:21:47,800 --> 06:21:51,320 UNDERSTAND YOUR DISEASE AS WELL 9928 06:21:51,320 --> 06:21:55,720 AS YOU DO. 9929 06:21:55,720 --> 06:22:01,840 BUT FEW PEOPLE WILL BREAKDOWN 9930 06:22:01,840 --> 06:22:08,160 WALLS AS WELL AS YOU WILL. 9931 06:22:08,160 --> 06:22:13,400 SO STAY STRONG AND BE FEARLESS. 9932 06:22:13,400 --> 06:22:15,360 >> THANK YOU. 9933 06:22:15,360 --> 06:22:18,760 AMAZING. 9934 06:22:18,760 --> 06:22:20,400 YOU HAVE TO TAKE A DEEP BREATH 9935 06:22:20,400 --> 06:22:24,280 WHEN YOU HAVE THESE KIND OF 9936 06:22:24,280 --> 06:22:25,760 PANELISTS. 9937 06:22:25,760 --> 06:22:26,200 SHARON? 9938 06:22:26,200 --> 06:22:27,400 >> SANDRA ABREVAYA: THAT'S HARD 9939 06:22:27,400 --> 06:22:27,640 TO FOLLOW. 9940 06:22:27,640 --> 06:22:32,240 I REALLY JUST WANT TO SAY, 9941 06:22:32,240 --> 06:22:32,560 DITTO. 9942 06:22:32,560 --> 06:22:36,240 I WILL SAY, YOU KNOW, TELL YOUR 9943 06:22:36,240 --> 06:22:36,760 STORY. 9944 06:22:36,760 --> 06:22:37,920 TELL IT OFTEN. 9945 06:22:37,920 --> 06:22:40,920 TELL IT TO ANYONE YOU KNOW. 9946 06:22:40,920 --> 06:22:44,320 I GO TO WORK EVERY DAY EXCITED 9947 06:22:44,320 --> 06:22:48,560 BECAUSE IT'S MY CHANCE TO TELL 9948 06:22:48,560 --> 06:22:50,360 YOUR STORIES, TO MAKE THOSE 9949 06:22:50,360 --> 06:22:52,520 CONNECTIONS THAT INSPIRE 9950 06:22:52,520 --> 06:22:54,560 EVERYONE TO SUPPORT THE PROGRESS 9951 06:22:54,560 --> 06:22:58,800 WE ALL HOPE FOR SO MUCH. 9952 06:22:58,800 --> 06:22:59,880 SO, TELL THOSE STORIES. 9953 06:22:59,880 --> 06:23:01,160 IT'S THE MOST IMPORTANT THING 9954 06:23:01,160 --> 06:23:02,440 YOU CAN DO. 9955 06:23:02,440 --> 06:23:05,240 AND EVERYTHING ELSE WILL GROW 9956 06:23:05,240 --> 06:23:08,040 FROM THERE. 9957 06:23:08,040 --> 06:23:10,680 >> GREAT, THANK YOU, SHARON. 9958 06:23:10,680 --> 06:23:10,920 KRISTEN? 9959 06:23:10,920 --> 06:23:12,080 >> KRISTEN WHEEDEN: SO, I'M 9960 06:23:12,080 --> 06:23:14,600 GOING TO USE THE WORDS THAT 9961 06:23:14,600 --> 06:23:16,920 JENNIFER SAID TO ME, I DON'T 9962 06:23:16,920 --> 06:23:17,800 KNOW IF YOU REMEMBER, A FEW 9963 06:23:17,800 --> 06:23:19,880 YEARS AGO. 9964 06:23:19,880 --> 06:23:21,120 THE WORDS WERE, I DON'T KNOW IF 9965 06:23:21,120 --> 06:23:24,200 IT WAS HER BAD DAY OR MY BAD 9966 06:23:24,200 --> 06:23:25,200 DAY -- BUT WE WERE TALKING AND 9967 06:23:25,200 --> 06:23:27,400 SHE SAID, KRISTEN, WE'RE ALL 9968 06:23:27,400 --> 06:23:30,120 JUST WALKING EACH OTHER HOME. 9969 06:23:30,120 --> 06:23:34,400 AND I DON'T KNOW WHO IS THE 9970 06:23:34,400 --> 06:23:35,480 POET, BUT I THINK ABOUT IT 9971 06:23:35,480 --> 06:23:35,680 OFTEN. 9972 06:23:35,680 --> 06:23:39,480 I PUT TO THE ON THE CLOCK. 9973 06:23:39,480 --> 06:23:40,480 IT'S IN MY HOME. 9974 06:23:40,480 --> 06:23:41,960 WE ARE ALL JUST WALKING EACH 9975 06:23:41,960 --> 06:23:42,560 OTHER HOME. 9976 06:23:42,560 --> 06:23:43,880 WHETHER YOU'RE A RESEARCHER, 9977 06:23:43,880 --> 06:23:45,960 PATIENT OR ADVOCATE, NO MATTER 9978 06:23:45,960 --> 06:23:47,600 WHERE YOU ARE, OR A INDUSTRY 9979 06:23:47,600 --> 06:23:47,920 MEMBER. 9980 06:23:47,920 --> 06:23:50,120 NO MATTER WHERE YOU ARE IN THIS 9981 06:23:50,120 --> 06:23:51,720 RARE DISEASE PROCESS, WHETHER 9982 06:23:51,720 --> 06:23:54,360 YOU'RE DIAGNOSED, YOU ARE 9983 06:23:54,360 --> 06:23:55,560 WAITING FOR TREATMENT, FIGHTING 9984 06:23:55,560 --> 06:23:58,760 FOR TREATMENT, GETTING 9985 06:23:58,760 --> 06:24:01,360 TREATMENT, YOU MATTER. 9986 06:24:01,360 --> 06:24:03,600 AND THAT'S ALL I HAVE. 9987 06:24:03,600 --> 06:24:04,920 >> THANK YOU, THANK YOU. 9988 06:24:04,920 --> 06:24:06,520 ONE THING I JUST WANT TO ADD. 9989 06:24:06,520 --> 06:24:08,840 I THINK WE CAN TAKE AWAY FROM 9990 06:24:08,840 --> 06:24:11,840 ALL OF THE DISCUSSION THIS 9991 06:24:11,840 --> 06:24:13,240 SESSION AND JUST TODAY, IF 9992 06:24:13,240 --> 06:24:16,200 YOU'RE A MEMBER OF INDUSTRY OR 9993 06:24:16,200 --> 06:24:16,880 SPONSOR, IT'S REALLY CRITICAL 9994 06:24:16,880 --> 06:24:20,040 THAT YOU'RE TALKING TO THE 9995 06:24:20,040 --> 06:24:20,440 PATIENT COMMUNITY. 9996 06:24:20,440 --> 06:24:22,440 IT'S OBVIOUS MANY ARE DOING IT, 9997 06:24:22,440 --> 06:24:24,560 BUT THERE STILL ARE SPONSORS, 9998 06:24:24,560 --> 06:24:26,480 THE SMALLER SPONSORS, THAT ARE 9999 06:24:26,480 --> 06:24:28,560 JUST NOT CONNECTING WITH THE 10000 06:24:28,560 --> 06:24:30,360 PATIENT COMMUNITY, INCLUDING THE 10001 06:24:30,360 --> 06:24:32,920 CAREGIVER COMMUNITY. 10002 06:24:32,920 --> 06:24:33,320 THE CARE PARTNERS. 10003 06:24:33,320 --> 06:24:35,800 THEY PLAY A REAL CRITICAL ROLE 10004 06:24:35,800 --> 06:24:38,360 IN DRIVING PROGRESS, BUT REALLY 10005 06:24:38,360 --> 06:24:40,560 UNDERSTANDING THE MEANINGFUL 10006 06:24:40,560 --> 06:24:43,480 OUTCOMES THAT MATTER TO THAT 10007 06:24:43,480 --> 06:24:44,600 PATIENT COMMUNITY. 10008 06:24:44,600 --> 06:24:46,080 THAT'S REALLY IMPORTANT. 10009 06:24:46,080 --> 06:24:48,240 AND HOPEFULLY THE SESSION IS 10010 06:24:48,240 --> 06:24:50,080 BROUGHT IN SOME LIGHT TO WHY 10011 06:24:50,080 --> 06:24:52,800 IT'S IMPORTANT TO DRIVE PROGRESS 10012 06:24:52,800 --> 06:24:54,760 FOR RARE DISEASES. 10013 06:24:54,760 --> 06:25:04,080 SO THANK YOU, THANK YOU SO MUCH. 10014 06:25:04,080 --> 06:25:08,800 THANK YOU SANDRA AND BRIAN. 10015 06:25:08,800 --> 06:25:10,960 >> THANK YOU FOR HAVING US. 10016 06:25:10,960 --> 06:25:17,480 BRIAN, WHAT DID YOU WANT TO 10017 06:25:17,480 --> 06:25:21,880 SHARE? 10018 06:25:21,880 --> 06:25:24,480 >> BRIAN: THANK YOU FOR ALL OF 10019 06:25:24,480 --> 06:25:34,960 THE WORK TO CHANGE THE WORLD. 10020 06:25:39,800 --> 06:25:40,840 >> IF YOU DON'T MIND, I THINK 10021 06:25:40,840 --> 06:25:42,200 YOU ALL SHOULD JUST STAY WHERE 10022 06:25:42,200 --> 06:25:42,720 YOU ARE. 10023 06:25:42,720 --> 06:25:44,440 BECAUSE WE ARE JUST CLOSING UP. 10024 06:25:44,440 --> 06:25:48,320 DID YOU HAVE A COMMENT, RON? 10025 06:25:48,320 --> 06:25:50,400 RON, DO YOU HAVE A COMMENT? 10026 06:25:50,400 --> 06:25:58,880 WOULD YOU LIKE TO MAKE IT ON T 10027 06:25:58,880 --> 06:26:02,400 THE -- 10028 06:26:02,400 --> 06:26:04,320 >> I JUST GOT NOTIFIED OF OUR 10029 06:26:04,320 --> 06:26:07,200 VERY FIRST APPROVAL OF OUR 10030 06:26:07,200 --> 06:26:09,240 MEDICATION FOR A RARE DISEASE. 10031 06:26:09,240 --> 06:26:09,920 IT'S NOT PUBLIC YET. 10032 06:26:09,920 --> 06:26:13,640 THE PRESS RELEASE WILL BE ISSUED 10033 06:26:13,640 --> 06:26:16,320 IN ABOUT FIVE MINUTES BUT WE 10034 06:26:16,320 --> 06:26:26,640 JUST GOT NOTIFIED. 10035 06:26:33,600 --> 06:26:35,720 [ APPLAUSE ] 10036 06:26:35,720 --> 06:26:45,080 >> THIS IS A MOMENT. 10037 06:26:45,080 --> 06:26:45,360 GOOD NEWS. 10038 06:26:45,360 --> 06:26:48,600 I JUST WANT TO THANK THIS LAST 10039 06:26:48,600 --> 06:26:50,520 PANEL FOR THE DISCUSSION TODAY. 10040 06:26:50,520 --> 06:26:53,880 YOU KNOW, OVER 40 YEARS AGO, ABI 10041 06:26:53,880 --> 06:26:57,000 MEYERS SHOWED US HOW TO BE AN 10042 06:26:57,000 --> 06:26:59,880 ADVOCATE. 10043 06:26:59,880 --> 06:27:05,680 TODAY ABI HOUSER SHOWED US HOW 10044 06:27:05,680 --> 06:27:06,280 TO BE THE CAPTAN OF OUR RARE 10045 06:27:06,280 --> 06:27:06,680 DISEASE PROGRAM. 10046 06:27:06,680 --> 06:27:11,320 AND MANY OF YOU SHOWED US HOW TO 10047 06:27:11,320 --> 06:27:13,200 ROCK THE RARE DISEASE PROGRAM 10048 06:27:13,200 --> 06:27:13,560 TOO. 10049 06:27:13,560 --> 06:27:14,480 THAT'S REALLY IMPORTANT. 10050 06:27:14,480 --> 06:27:20,920 THE FUTURE KINGS, ELLEN, MARC 10051 06:27:20,920 --> 06:27:24,960 ROTHENBERG AND THE DYNAMIC DUO 10052 06:27:24,960 --> 06:27:28,640 OF SANDRA AND BRIAN AND JENNIFER 10053 06:27:28,640 --> 06:27:31,880 AND ALL THE PEOPLE HERE TODAY 10054 06:27:31,880 --> 06:27:33,320 TELLING US THEIR STORIES. 10055 06:27:33,320 --> 06:27:36,040 SHOWING US HOW TO GET THOSE 10056 06:27:36,040 --> 06:27:37,200 TREATMENTS AND CURES. 10057 06:27:37,200 --> 06:27:40,080 AND NOW JUST HEARING THIS FROM 10058 06:27:40,080 --> 06:27:42,680 RON BAR TECH, SUPER EXCITING 10059 06:27:42,680 --> 06:27:46,720 TODAY ON RARE DISEASE DAY, WHAT 10060 06:27:46,720 --> 06:27:49,040 A GREAT MOMENT. 10061 06:27:49,040 --> 06:27:50,640 SO I WANT TO THANK YOU ALL FOR 10062 06:27:50,640 --> 06:27:51,760 SHARING YOUR STORIES. 10063 06:27:51,760 --> 06:27:53,320 I WANT TO THANK YOU ALL FOR 10064 06:27:53,320 --> 06:27:55,520 COMING OUT TODAY AND BRINGING US 10065 06:27:55,520 --> 06:27:58,720 THAT HOPE IN ACTION. 10066 06:27:58,720 --> 06:28:00,640 I LOVE THAT VERSE TOO, FROM 10067 06:28:00,640 --> 06:28:00,840 CHRIS. 10068 06:28:00,840 --> 06:28:01,920 AND I WANT ALSO TO GIVE ONE MORE 10069 06:28:01,920 --> 06:28:06,040 ROUND OF APPLAUSE FOR ALICE, AMY 10070 06:28:06,040 --> 06:28:10,760 AND MERA, BECAUSE THERE ARE SOME 10071 06:28:10,760 --> 06:28:11,360 GLITCHES TODAY. 10072 06:28:11,360 --> 06:28:14,320 BUT THEY MANAGED IT ALL WITH 10073 06:28:14,320 --> 06:28:14,640 GRACE. 10074 06:28:14,640 --> 06:28:14,920 [ APPLAUSE ] 10075 06:28:14,920 --> 06:28:18,680 AND A SMILE ON THEIR FACE. 10076 06:28:18,680 --> 06:28:20,160 THANK YOU VERY MUCH. 10077 06:28:20,160 --> 06:28:23,160 ALSO, I WANTED TO LET YOU KNOW 10078 06:28:23,160 --> 06:28:24,480 THAT THE -- YOU CAN REVISIT THE 10079 06:28:24,480 --> 06:28:27,400 VIDEOCAST BY USING THE LINK THAT 10080 06:28:27,400 --> 06:28:28,760 YOU WERE SENT WHEN YOU WERE 10081 06:28:28,760 --> 06:28:29,040 REGISTERED. 10082 06:28:29,040 --> 06:28:30,600 AND THE EVENT APP WILL STAY OPEN 10083 06:28:30,600 --> 06:28:33,520 UNTIL MARCH 2 AT NOON SO YOU CAN 10084 06:28:33,520 --> 06:28:36,240 STILL VISIT THE VIRTUAL EXHIBITS 10085 06:28:36,240 --> 06:28:36,720 AND POSTERS UNTIL THEN. 10086 06:28:36,720 --> 06:28:40,280 AND WITH THAT, THANK YOU VERY 10087 06:28:40,280 --> 06:28:41,360 MUCH AGAIN. 10088 06:28:41,360 --> 06:28:44,560 THANK YOU TO THE PANEL TODAY FOR 10089 06:28:44,560 --> 06:28:45,080 PRESENTING AND ALL OF THE 10090 06:28:45,080 --> 06:28:48,280 SPEAKERS, ALL THE ARTISTS AND 10091 06:28:48,280 --> 06:28:50,160 ALL OF THE PEOPLE WHO HAD THE 10092 06:28:50,160 --> 06:28:50,400 BOOTHS. 10093 06:28:50,400 --> 06:28:51,720 I LOOK FORWARD TO SEEING YOU 10094 06:28:51,720 --> 06:28:53,960 NEXT YEAR AND HEARING MORE ABOUT 10095 06:28:53,960 --> 06:28:57,840 THESE SUCCESSES. 10096 06:28:57,840 --> 06:28:58,440 THANK YOU VERY MUCH, EVERYONE. 10097 06:28:58,440 --> 06:29:08,760 HAVE A GOOD NIGHT.