1 00:00:04,504 --> 00:00:06,906 >> GOOD MORNING, EVERYONE. 2 00:00:06,973 --> 00:00:07,941 HELLO. 3 00:00:08,007 --> 00:00:15,248 WELCOME TO THE RARE DISEASE DAY. 4 00:00:15,315 --> 00:00:18,618 WE'RE MEERA AND AINSLIE HAVE 5 00:00:18,685 --> 00:00:20,453 BEEN PLANNING THE EVENT WITH A 6 00:00:20,520 --> 00:00:21,554 BIG TEAM. 7 00:00:21,621 --> 00:00:27,660 WE'RE WITH THE DIVERSION OF RARE 8 00:00:27,727 --> 00:00:30,930 DISEASES INNOVATION RESEARCH. 9 00:00:30,997 --> 00:00:33,266 WE'RE LOCATED WITHIN THE 10 00:00:33,333 --> 00:00:34,734 NATIONAL CENTER OF 11 00:00:34,801 --> 00:00:36,803 TRANSLATIONAL -- ADVANCING 12 00:00:36,870 --> 00:00:41,107 TRANSLATIONAL SCIENCES OR NCATS 13 00:00:41,174 --> 00:00:42,409 AT THE NIH. 14 00:00:42,475 --> 00:00:44,477 FOR THOSE WHO NEED CLOSED 15 00:00:44,544 --> 00:00:46,646 CAPTIONING YOU CAN TOGGLE THE 16 00:00:46,713 --> 00:00:48,648 OPTION ON THE NIH VIDEOCAST OR 17 00:00:48,715 --> 00:00:48,982 EVENT APP. 18 00:00:49,048 --> 00:00:52,285 FOR THOSE IN PERSON YOU CAN VIEW 19 00:00:52,352 --> 00:00:55,522 LIVE CAPTIONING GOING TO THE 20 00:00:55,588 --> 00:00:58,391 LINK OR SCANNING THE QR CODE AND 21 00:00:58,458 --> 00:01:01,961 ENTERING THE EVENT CODE RDD2024. 22 00:01:02,028 --> 00:01:06,599 IF YOU HAVE ADDITIONAL QUESTIONS 23 00:01:06,666 --> 00:01:07,934 STAFF CAN ANSWER QUESTIONS. 24 00:01:08,001 --> 00:01:10,470 WE WOULD LIKE TO THANK ALL OUR 25 00:01:10,537 --> 00:01:12,772 PARTNERS IN PLANNING THIS YEAR'S 26 00:01:12,839 --> 00:01:16,810 PLANNING COMMITTEE INCLUDED 27 00:01:16,876 --> 00:01:17,510 REPRESENTATIVES FROM MANY 28 00:01:17,577 --> 00:01:19,913 DIVISIONS AND OFFICES ALL OVER 29 00:01:19,979 --> 00:01:21,114 NCATS AS WELL AS CO-SPONSORS 30 00:01:21,181 --> 00:01:27,253 FROM THE NIH CLINICAL CENTER AND 31 00:01:27,320 --> 00:01:32,225 NIAA, NINDS, THE FDA, CHILDREN'S 32 00:01:32,292 --> 00:01:39,265 INN AT NIH, EVERY REACH FOR RARE 33 00:01:39,332 --> 00:01:39,532 DISEASES. 34 00:01:39,599 --> 00:01:41,968 WE HAVE MORE THAN 200 35 00:01:42,035 --> 00:01:42,569 REGISTRANTS IN PERSON AND 36 00:01:42,635 --> 00:01:43,570 VIRTUAL FROM ALL OVER THE WORLD. 37 00:01:43,636 --> 00:01:45,638 WE'RE EXCITED TO BRING YOU AN 38 00:01:45,705 --> 00:01:49,275 AWESOME LINEUP OF SPEAKERS AND 39 00:01:49,342 --> 00:01:50,443 PATIENT STORIES FOR TODAY'S 40 00:01:50,510 --> 00:01:50,977 EVENT. 41 00:01:51,044 --> 00:01:53,580 WE'LL GO THROUGH A FEW LOGISTICS 42 00:01:53,646 --> 00:01:58,418 TOE HELP NAVIGATE YOUR DAY. 43 00:01:58,485 --> 00:01:59,953 THE MAIN AGENDA WILL TAKE PLACE 44 00:02:00,019 --> 00:02:04,491 IN THIS AUDITORIUM AND CAN BE 45 00:02:04,557 --> 00:02:05,558 VIEWED IN THE LOWER LEVEL 46 00:02:05,625 --> 00:02:07,360 CONFERENCE CENTER OR UPPER 47 00:02:07,427 --> 00:02:07,794 LEVELS BALCONIES. 48 00:02:07,861 --> 00:02:10,330 WE HAVE PLENTY OF SPACE. 49 00:02:10,396 --> 00:02:11,965 DO NOT STAND BY THE DOORS THE 50 00:02:12,031 --> 00:02:14,000 FIRE MARSHAL WILL COME AND 51 00:02:14,067 --> 00:02:17,570 FILMING AND PHOTOGRAPHY IS 52 00:02:17,637 --> 00:02:19,939 TAKING PLACE SO IF YOU DO NOT 53 00:02:20,006 --> 00:02:20,773 WISH TO BE PHOTOGRAPHED CHECK IN 54 00:02:20,840 --> 00:02:22,609 AT THE DESK. 55 00:02:22,675 --> 00:02:25,578 WE HAVE OVERFLOW ROOMS SET UP 56 00:02:25,645 --> 00:02:28,515 FOR NETWORKING OR IF YOU FEEL 57 00:02:28,581 --> 00:02:29,182 MORE RFRTABLE VIEWING THE EVENT 58 00:02:29,249 --> 00:02:30,416 FROM THERE. 59 00:02:30,483 --> 00:02:34,821 ROOMS ABD, G AND F2 ARE SET UP 60 00:02:34,888 --> 00:02:40,159 FOR THIS AND BATHROOMS AND 61 00:02:40,226 --> 00:02:42,195 ELEVATORS ON THE SIDES OF BOTH 62 00:02:42,262 --> 00:02:42,595 DOORS. 63 00:02:42,662 --> 00:02:44,697 THIS YEAR HAS IN-PERSON VISITS 64 00:02:44,764 --> 00:02:48,001 AND SCIENTIFIC POSTERS. 65 00:02:48,067 --> 00:02:49,569 WE ARE HOSTING A LITTLE OVER 100 66 00:02:49,636 --> 00:02:53,039 TOTAL EXHIBITS AND POSTERS WHICH 67 00:02:53,106 --> 00:02:54,974 SETS A RECORD FOR RARE DISEASE 68 00:02:55,041 --> 00:02:55,875 DAY AT NIH. 69 00:02:55,942 --> 00:03:02,649 THE CIRCLES ON THE MAP SHOW -- 70 00:03:02,715 --> 00:03:04,751 WHERE THEY'RE LOCATED IN THE 71 00:03:04,817 --> 00:03:06,886 UPPER LEVEL ATRIUM, LOWER LEVEL 72 00:03:06,953 --> 00:03:10,089 IN ROOM EF1. 73 00:03:10,156 --> 00:03:12,759 THIS YEAR WE'RE DELIGHTED TO 74 00:03:12,825 --> 00:03:14,460 HAVE SPECIAL ART EXHIBITIONS TO 75 00:03:14,527 --> 00:03:19,999 VISIT IN PERSON AT NATUR AND 76 00:03:20,066 --> 00:03:23,937 THEY'RE DISPLAYED IN ROOM C AND 77 00:03:24,003 --> 00:03:26,706 RARE DISEASES CAN BE VIEWED IN 78 00:03:26,773 --> 00:03:29,042 ROOM G PRESENT THE DISORDER 79 00:03:29,108 --> 00:03:29,342 CHANNEL. 80 00:03:29,409 --> 00:03:32,178 AS MANY REMEMBER LAST YEAR, THIS 81 00:03:32,245 --> 00:03:34,314 YEAR THERE ARE SEVERAL MORE FOOD 82 00:03:34,380 --> 00:03:35,281 OPTIONS AVAILABLE. 83 00:03:35,348 --> 00:03:37,917 THE CONFERENCE CENTER CAFETERIA 84 00:03:37,984 --> 00:03:41,554 IS OPEN FROM 10:00 A.M. TO 1:30 85 00:03:41,621 --> 00:03:43,056 P.M. OFFERING FOOD AND SNACKS 86 00:03:43,122 --> 00:03:43,923 AND COFFEE THROUGHOUT THE DAY. 87 00:03:43,990 --> 00:03:46,526 IF YOU PRE-ORDERED A BOX LUNCH 88 00:03:46,593 --> 00:03:49,562 IT WILL BE AVAILABLE AT THE 89 00:03:49,629 --> 00:03:51,264 REGISTRATION DESK AT THE LOWER 90 00:03:51,331 --> 00:03:52,031 LOBBY LEVEL. 91 00:03:52,098 --> 00:03:54,233 NOW, WE'LL GO THROUGH A FEW 92 00:03:54,300 --> 00:03:56,002 DETAILS ABOUT THIS YEAR'S EVENT 93 00:03:56,069 --> 00:03:56,703 APP. 94 00:03:56,769 --> 00:04:01,007 YOU CAN SEARCH FOR WEBEX IN YOUR 95 00:04:01,074 --> 00:04:03,042 MOBILE APP STORE OR ENTER THE 96 00:04:03,109 --> 00:04:04,711 LINK IN THE WEB BROWSER AND SIGN 97 00:04:04,777 --> 00:04:06,913 USING THE E-MAIL YOU REGISTERED 98 00:04:06,980 --> 00:04:08,348 FOR THE EVENT WITH. 99 00:04:08,414 --> 00:04:09,682 FOR THOSE WOULD ARE REGISTERED 100 00:04:09,749 --> 00:04:12,652 AND VIEWING THIS EVENT ON THE 101 00:04:12,719 --> 00:04:16,356 VIDEOCAST RIGHT NOW, THE LINK TO 102 00:04:16,422 --> 00:04:17,557 THE EVENT APP IS AVAILABLE IN 103 00:04:17,624 --> 00:04:19,425 THE DESCRIPTION BELOW. 104 00:04:19,492 --> 00:04:21,527 I'LL GO INTO DETAILS HOW TO USE 105 00:04:21,594 --> 00:04:25,565 THE NAVIGATION ICONS WITHIN THE 106 00:04:25,632 --> 00:04:28,101 APP. 107 00:04:28,167 --> 00:04:31,571 THIS YEAR VIRTUAL ATTENDEES CAN 108 00:04:31,638 --> 00:04:33,339 VIEW THE LIVE STREAM DIRECTLY 109 00:04:33,406 --> 00:04:35,141 THROUGH THE EVENT APP OR THROUGH 110 00:04:35,208 --> 00:04:39,646 THE WEB BROWSER OR 111 00:04:39,712 --> 00:04:41,781 VIDEOCAST.NIH.gov. 112 00:04:41,848 --> 00:04:49,555 CHOOSE THE MOST CONVENIENT 113 00:04:49,622 --> 00:04:52,625 OPTION FOR YOU. 114 00:04:52,692 --> 00:04:54,861 YOU CAN SUBMIT QUESTIONS LIVE OR 115 00:04:54,927 --> 00:04:56,462 ENTER POLL QUESTIONS AND CONNECT 116 00:04:56,529 --> 00:04:58,898 WITH OTHER ATTENDEES, POST ON 117 00:04:58,965 --> 00:05:04,370 THE SOCIAL WALL AND POST A 118 00:05:04,437 --> 00:05:06,105 VIEWING OF THE EXHIBITS AND 119 00:05:06,172 --> 00:05:07,006 SCIENTIFIC CENTERS. 120 00:05:07,073 --> 00:05:09,909 YOU WANTED TO SHOW PHOTOS OF THE 121 00:05:09,976 --> 00:05:13,913 LIGHT UP CAMPAIGN IN OBSERVANCE 122 00:05:13,980 --> 00:05:16,649 OF RARE DISEASE DISEASE. 123 00:05:16,716 --> 00:05:21,554 SILVER SPRING, MARYLAND WILL BE 124 00:05:21,621 --> 00:05:24,123 ILLUMINATED AND THERE'S LIGHTS 125 00:05:24,190 --> 00:05:25,124 IN RECOGNITION OF RARE DISEASE 126 00:05:25,191 --> 00:05:25,558 DAY. 127 00:05:25,625 --> 00:05:28,394 WE'LL HAVE BUILDING 38A, ACROSS 128 00:05:28,461 --> 00:05:30,096 FROM THE CONFERENCE CENTER 129 00:05:30,163 --> 00:05:30,730 ILLUMINATED THROUGH MONDAY. 130 00:05:30,797 --> 00:05:32,598 WE ALSO LIT UP BUILDING 1 THE 131 00:05:32,665 --> 00:05:34,767 OTHER DAY TO TAKE PHOTOS. 132 00:05:34,834 --> 00:05:37,503 WE WANT TO SAY A SPECIAL THANK 133 00:05:37,570 --> 00:05:39,539 YOU TO JAMES TAYLOR AND NCATS 134 00:05:39,605 --> 00:05:42,108 WHO LED THE COORDINATION OF THIS 135 00:05:42,175 --> 00:05:44,477 INTENSE EFFORT AT NIH ALONG WITH 136 00:05:44,544 --> 00:05:45,478 THE OFFICE OF RESEARCH 137 00:05:45,545 --> 00:05:45,778 FACILITIES. 138 00:05:45,845 --> 00:05:47,480 WE COULD NOT HAVE DONE IT 139 00:05:47,547 --> 00:05:49,849 WITHOUT THEM AND WANTED TO SHARE 140 00:05:49,916 --> 00:05:51,884 A SNEAK PEEK OF THE SPECTACULAR 141 00:05:51,951 --> 00:05:53,786 PHOTO THEY TOOK IN SETTING UP 142 00:05:53,853 --> 00:05:57,557 FOR THE LIGHTS. 143 00:05:57,623 --> 00:05:59,425 MORE PROFESSIONAL PHOTOGRAPHY 144 00:05:59,492 --> 00:06:00,460 WILL BE AVAILABLE SOON. 145 00:06:00,526 --> 00:06:03,996 ALL ATTENDEES BOTH IN PERSON AND 146 00:06:04,063 --> 00:06:06,766 VIRTUAL ARE EXPECTED TO EXERCISE 147 00:06:06,833 --> 00:06:07,300 PROFESSIONALISM AND 148 00:06:07,366 --> 00:06:08,334 CONSIDERATION AND RESPECT IN 149 00:06:08,401 --> 00:06:10,269 YOUR SPEECH, POSTINGS AND OTHER 150 00:06:10,336 --> 00:06:10,503 ACTIONS. 151 00:06:10,570 --> 00:06:13,539 THANK YOU AND LET'S HAVE A GREAT 152 00:06:13,606 --> 00:06:19,178 2024 EVENT. 153 00:06:19,245 --> 00:06:24,784 >> NOW, WE WOULD LIKE TO 154 00:06:24,851 --> 00:06:26,619 INTRODUCE JONI RUTER TO PROVIDE 155 00:06:26,686 --> 00:06:29,589 WELCOMING REMARKS. 156 00:06:29,655 --> 00:06:40,199 AS NCATS REMARKS SHE PRESENTS V 157 00:06:43,136 --> 00:06:44,604 AND TREATMENT OF NEW SOLUTIONS 158 00:06:44,670 --> 00:06:46,739 AND NCATS SUPPORTS NEW TOOLS AND 159 00:06:46,806 --> 00:06:49,542 APPROACHES TO MAKE EACH STEP OF 160 00:06:49,609 --> 00:06:50,877 THE TRANSLATIONAL PROCESS MORE 161 00:06:50,943 --> 00:06:51,644 EFFECTIVE AND EFFICIENT. 162 00:06:51,711 --> 00:06:54,714 A KEY GOAL IS TO SPEED RESEARCH 163 00:06:54,781 --> 00:06:57,283 ACROSS A RANGE OF DISEASES WITH 164 00:06:57,350 --> 00:06:59,152 A PARTICULAR FOCUS ON RARELIEDS 165 00:06:59,218 --> 00:07:00,153 >>> OF COURSE. 166 00:07:00,219 --> 00:07:04,323 VACCINATION THE SCIENCE OF 167 00:07:04,390 --> 00:07:07,660 TRANSLATION, NCATS HELPS TURN 168 00:07:07,727 --> 00:07:09,128 PROMISING RESEARCH DISCOVERIES 169 00:07:09,195 --> 00:07:11,464 INTO REAL WORLD APPLICATIONS TO 170 00:07:11,531 --> 00:07:12,532 IMPROVE PEOPLE'S HEALTH. 171 00:07:12,598 --> 00:07:13,866 LET'S WELCOME DR. RUTTER TO THE 172 00:07:13,933 --> 00:07:24,043 STAGE. 173 00:07:26,946 --> 00:07:32,018 >> THANK YOU, BOTH. 174 00:07:32,084 --> 00:07:33,219 YOU KNOW I CAN'T SEE. 175 00:07:33,286 --> 00:07:35,154 I NEED TO RAISE THE PODIUM UP. 176 00:07:35,221 --> 00:07:38,057 THANK YOU SO MUCH, BOTH OF YOU. 177 00:07:38,124 --> 00:07:41,527 WELL, GOOD MORNING, EVERYONE. 178 00:07:41,594 --> 00:07:43,596 IT'S GREAT TO SEE THOSE OF WHO 179 00:07:43,663 --> 00:07:45,598 WHO ARE HERE IN PERSON AND TO 180 00:07:45,665 --> 00:07:46,532 ALL ONLINE AS WELL. 181 00:07:46,599 --> 00:07:50,036 I KNOW MANY ARE ONLINE ACROSS 182 00:07:50,102 --> 00:07:52,071 THE NATION AND EVEN ACROSS THE 183 00:07:52,138 --> 00:07:52,638 GLOBE. 184 00:07:52,705 --> 00:07:55,074 THANK YOU FOR JOINING TODAY. 185 00:07:55,141 --> 00:07:56,375 WELCOME TO RARE DISEASE DAY 186 00:07:56,442 --> 00:07:56,742 2024. 187 00:07:56,809 --> 00:07:59,111 IT'S LIKE THE ULTRA RARE DAY. 188 00:07:59,178 --> 00:08:01,547 IT'S THE RAREST DAY OF THE YEAR, 189 00:08:01,614 --> 00:08:04,016 THE LEAP YEAR AND THIS IS A 190 00:08:04,083 --> 00:08:04,483 GREAT DAY. 191 00:08:04,550 --> 00:08:09,555 SO I'M JONI RUTTER THE DIRECTOR 192 00:08:09,622 --> 00:08:12,491 OF NCATS AND BEFORE I DIVE INTO 193 00:08:12,558 --> 00:08:15,428 MY REMARKS LET ME TAKE EXPRESS 194 00:08:15,494 --> 00:08:18,030 THE MI GRATITUDE FOR THE EFFORTS 195 00:08:18,097 --> 00:08:21,133 OF AINSLIE AND MEERA AND THE 196 00:08:21,200 --> 00:08:23,836 EVENT TEAM WHO THEY MENTIONED 197 00:08:23,903 --> 00:08:24,470 EARLIER. 198 00:08:24,537 --> 00:08:25,905 THOSE HERE TODAY, STAND UP, 199 00:08:25,972 --> 00:08:35,615 PLEASE, AND TAKE NOTICE. 200 00:08:35,681 --> 00:08:37,550 THIS IS AN EFFORT WITH MANY 201 00:08:37,617 --> 00:08:39,752 PARTNERS AND DOESN'T GO 202 00:08:39,819 --> 00:08:40,253 UNNOTICED. 203 00:08:40,319 --> 00:08:43,256 IT'S SO MUCH APPRECIATED AND A 204 00:08:43,322 --> 00:08:46,726 SPECIAL NOD TO AL IS CHEN OUT ON 205 00:08:46,792 --> 00:08:49,395 MATERNITY LEAVE BUT IS 206 00:08:49,462 --> 00:08:50,997 SYNONYMOUS WITH THE EVENT AND 207 00:08:51,063 --> 00:08:52,531 MISS HER THIS YEAR BUT SHE'LL BE 208 00:08:52,598 --> 00:08:52,732 BACK. 209 00:08:52,798 --> 00:08:56,035 AT NCATS OUR MISSION IS TO TURN 210 00:08:56,102 --> 00:08:56,903 SCIENTIFIC DISCOVERIES INTO 211 00:08:56,969 --> 00:08:57,937 HEALTH SOLUTIONS FASTER. 212 00:08:58,004 --> 00:09:02,041 OVER THE PAST YEAR WE HELD 213 00:09:02,108 --> 00:09:04,010 NEARLY 50 ROUNDTABLE EVENTS TO 214 00:09:04,076 --> 00:09:06,178 DISCUSS AND PLOT OUR COURSE FOR 215 00:09:06,245 --> 00:09:07,980 OUR STRATEGIC PLAN FOR NCATS FOR 216 00:09:08,047 --> 00:09:11,617 THE DECADE AHEAD. 217 00:09:11,684 --> 00:09:15,521 NOW, MANY OF YOU IT'S IMPORTANT 218 00:09:15,588 --> 00:09:17,356 TO NOTE MANY PARTICIPATED IN THE 219 00:09:17,423 --> 00:09:17,990 ROUNDTABLE DISCUSSIONS. 220 00:09:18,057 --> 00:09:19,659 WE SPECIFICALLY HELD THESE 221 00:09:19,725 --> 00:09:21,560 DISCUSSIONS WITH PEOPLE WITH 222 00:09:21,627 --> 00:09:23,562 RARE DISEASES, PATIENT ADVISORY 223 00:09:23,629 --> 00:09:25,831 GROUPS, COMMUNITY LEADERS, 224 00:09:25,898 --> 00:09:27,266 RESEARCHERS, CLINICIANS AND THE 225 00:09:27,333 --> 00:09:27,667 PUBLIC. 226 00:09:27,733 --> 00:09:30,069 WE WANT TO MAKE SURE THAT WE'RE 227 00:09:30,136 --> 00:09:32,004 REFLECTING YOUR IDEAS, YOUR 228 00:09:32,071 --> 00:09:35,875 NEEDS AND YOUR GOALS IN BRINGING 229 00:09:35,942 --> 00:09:40,279 MORE TREATMENTS TO MORE PEOPLE 230 00:09:40,346 --> 00:09:40,546 PERFECTLY. 231 00:09:40,613 --> 00:09:42,982 IT'S IMPORTANT TO HAVE THE 232 00:09:43,049 --> 00:09:45,418 VOICES AT THE TABLE WHEN 233 00:09:45,484 --> 00:09:47,920 DEVELOPING STRATEGIC PLANS AT 234 00:09:47,987 --> 00:09:48,821 THE HEART OF RARE DISEASE 235 00:09:48,888 --> 00:09:50,523 STORIES FROM PATIENTS AND 236 00:09:50,589 --> 00:09:52,358 FAMILIES GUIDE OUR SCIENTIFIC 237 00:09:52,425 --> 00:09:53,793 JOURNEY AND SPUR THE MEANINGFUL 238 00:09:53,859 --> 00:09:55,261 CHANGE WE NEED TO SEE. 239 00:09:55,328 --> 00:09:56,562 THAT NEEDS TO HAPPEN AT THE 240 00:09:56,629 --> 00:09:58,898 START, AT THE BEGINNING OF 241 00:09:58,965 --> 00:09:59,598 PLANNING NOT AT THE END. 242 00:09:59,665 --> 00:10:05,571 AND THE SAME GOES FOR THE 243 00:10:05,638 --> 00:10:06,872 RESEARCH THAT WE DO. 244 00:10:06,939 --> 00:10:14,981 THAT WILL BE A THEME YOU HEAR 245 00:10:15,047 --> 00:10:15,181 TODAY. 246 00:10:15,247 --> 00:10:17,550 LAST NIGHT THE BIDEN-HARRIS 247 00:10:17,616 --> 00:10:18,818 ADMINISTRATION HELD A FIRST OF 248 00:10:18,884 --> 00:10:20,019 ITS KIND EVENT AT THE WHITE 249 00:10:20,086 --> 00:10:23,823 HOUSE SPONSORED BY THE OFFICE OF 250 00:10:23,889 --> 00:10:25,191 SCIENCE AND TECHNOLOGY AND I 251 00:10:25,257 --> 00:10:27,393 HEARD A CLAP AND IT'S A BIG 252 00:10:27,460 --> 00:10:27,760 DEAL. 253 00:10:27,827 --> 00:10:29,462 KUDOS TO THE ADMINISTRATION FOR 254 00:10:29,528 --> 00:10:30,663 HOLDING THE EVENT. 255 00:10:30,730 --> 00:10:32,898 I WAS GRATEFUL TO BE INVITED TO 256 00:10:32,965 --> 00:10:35,801 BE A PANEL DISCUSSANT TO 257 00:10:35,868 --> 00:10:36,402 HIGHLIGHT RECENT RESEARCH 258 00:10:36,469 --> 00:10:39,305 PROGRESS ON RARE DISEASES AND 259 00:10:39,372 --> 00:10:40,906 OUR PRIORITIES FOR RESEARCH THAT 260 00:10:40,973 --> 00:10:43,609 EMPHASIZES THE IDEA OF 261 00:10:43,676 --> 00:10:45,544 PATIENT-PARTNERED RESEARCH AND 262 00:10:45,611 --> 00:10:46,278 HEALTH EQUITY. 263 00:10:46,345 --> 00:10:48,948 I COULDN'T IMAGINE A BETTER WAY 264 00:10:49,015 --> 00:10:50,082 TO SPEND RARE DISEASE EVE AND 265 00:10:50,149 --> 00:10:53,552 THE INITIATIVE IN HOSTING THE 266 00:10:53,619 --> 00:10:55,021 EVENT UNDER SCORE AS A NATIONAL 267 00:10:55,087 --> 00:10:56,756 COMMITMENT TO ADVANCING RARE 268 00:10:56,822 --> 00:10:58,557 DISEASE RESEARCH, FOSTERING 269 00:10:58,624 --> 00:11:01,293 PATIENT-CENTERED APPROACHES AND 270 00:11:01,360 --> 00:11:02,461 PROMOTING HEALTH EQUITY AND 271 00:11:02,528 --> 00:11:05,164 SIGNALS A POWERFUL STEP FORWARD 272 00:11:05,231 --> 00:11:06,265 ON INCLUSIVENESS AND INNOVATIVE 273 00:11:06,332 --> 00:11:08,034 HEALTH CARE SOLUTIONS. 274 00:11:08,100 --> 00:11:10,536 I WAS DELIGHTED TO SEE THIS 275 00:11:10,603 --> 00:11:11,904 HAPPEN AND HOPE IT CONTINUES AS 276 00:11:11,971 --> 00:11:12,271 WELL. 277 00:11:12,338 --> 00:11:14,673 SPEAK OF ALL THESE KINDS OF 278 00:11:14,740 --> 00:11:15,775 ACTIVITIES AND THOSE THEMES, 279 00:11:15,841 --> 00:11:17,576 AGAIN YOU'LL HEAR ABOUT THESE 280 00:11:17,643 --> 00:11:17,843 TODAY. 281 00:11:17,910 --> 00:11:20,279 YOU'LL HEAR ABOUT RECENT TRIUMPH 282 00:11:20,346 --> 00:11:30,790 OF LIKE THE APPROVAL FOR 283 00:11:33,759 --> 00:11:36,629 VAMOROLONE AND WE HAVE PARTNERS 284 00:11:36,695 --> 00:11:39,865 AT OTHER I.C.s FUNDING SOME OF 285 00:11:39,932 --> 00:11:42,601 THE CLINICAL TRIALS. 286 00:11:42,668 --> 00:11:53,212 AND VAMOROLONE AND MAY HELP 287 00:12:01,720 --> 00:12:12,164 WITH JUVENILE MYELOCYTEIS AND 288 00:12:13,432 --> 00:12:15,434 ALREADY THINKING TO USE THIS IN 289 00:12:15,501 --> 00:12:16,869 OTHER APPLICATIONS AND WE LACK 290 00:12:16,936 --> 00:12:18,904 ANIMAL MODELS FOR MANY RARE 291 00:12:18,971 --> 00:12:19,171 DISEASES. 292 00:12:19,238 --> 00:12:22,675 LATER YOU'LL HERE ABOUT A NEW 293 00:12:22,741 --> 00:12:24,543 TISSUE CHIP MODEL ADDRESSING 294 00:12:24,610 --> 00:12:26,979 RARE POLY NEUROPATHY DISORDERS. 295 00:12:27,046 --> 00:12:28,681 THEY SHOW PROMISE FOR SCREENING 296 00:12:28,747 --> 00:12:30,049 REPURPOSE DRUGS AND THERE'S NOW 297 00:12:30,116 --> 00:12:32,151 A CANDIDATE DRUG IN PHASE II. 298 00:12:32,218 --> 00:12:35,187 WE'RE EXCITED ABOUT THE NEW 299 00:12:35,254 --> 00:12:36,088 TECHNOLOGY THIS PLATFORM 300 00:12:36,155 --> 00:12:38,524 PROVIDES AND HOW IT CAN MAYBE 301 00:12:38,591 --> 00:12:41,594 HELP US ADVANCE RESEARCH IN RARE 302 00:12:41,660 --> 00:12:41,861 DISEASES. 303 00:12:41,927 --> 00:12:44,029 PREDICTIVE MODELS ARE CRUCIAL. 304 00:12:44,096 --> 00:12:45,564 WORKING WITH PATIENT CELLS TO 305 00:12:45,631 --> 00:12:48,567 BETTER STIMULATE AND PREDICT HOW 306 00:12:48,634 --> 00:12:50,703 DISEASES MAY PROGRESS TO BETTER 307 00:12:50,769 --> 00:12:52,238 UNDERSTAND HOW DRUGS CAN STOP 308 00:12:52,304 --> 00:12:52,771 THAT PROGRESSION. 309 00:12:52,838 --> 00:12:54,673 ALL WITHOUT RELYING ON THE 310 00:12:54,740 --> 00:12:56,041 TRADITIONAL ANIMAL MODELS THAT 311 00:12:56,108 --> 00:12:56,942 WE HAVE BEFORE. 312 00:12:57,009 --> 00:12:58,644 SO THESE ADVANCEMENTS NOT ONLY 313 00:12:58,711 --> 00:13:00,346 REFINE OUR INFORMATION OF RARE 314 00:13:00,412 --> 00:13:02,648 DISEASES BUT HASTEN THE ARRIVAL 315 00:13:02,715 --> 00:13:04,450 OF SAFE AND EFFECTIVE THERAPIES. 316 00:13:04,517 --> 00:13:05,484 THERE'S A LOT OF HOPE IN THE 317 00:13:05,551 --> 00:13:07,453 TECHNOLOGIES THAT WE'RE BUILDING 318 00:13:07,520 --> 00:13:07,820 FOR THE FUTURE. 319 00:13:07,887 --> 00:13:11,757 AND AS WE MOVE FURTHER, THE 320 00:13:11,824 --> 00:13:13,559 CONVERGENCE OF DATA SCIENCE, 321 00:13:13,626 --> 00:13:17,563 YOU'LL HEAR A LOT ABOUT DATA 322 00:13:17,630 --> 00:13:17,897 SCIENCE TODAY. 323 00:13:17,963 --> 00:13:21,500 THE CONVERGENCE OF DATA SCIENCE 324 00:13:21,567 --> 00:13:25,404 AND ARTIFICIAL SCIENCE FROM 325 00:13:25,471 --> 00:13:27,873 ALGORITHM DEVELOPMENT TO 326 00:13:27,940 --> 00:13:28,741 SHORTENING THE DIAGNOSTIC 327 00:13:28,807 --> 00:13:33,579 ODYSSEY AND RAPID GENETIC DATA 328 00:13:33,646 --> 00:13:35,881 AND PREDICTION OF COMPOUNDS THAT 329 00:13:35,948 --> 00:13:37,683 OF SOMETHING WE MAYBE THOUGHT 330 00:13:37,750 --> 00:13:46,659 WERE UNDRUGGABLE ARE THE POWER 331 00:13:46,725 --> 00:13:47,993 BEHIND A.I. AND M.L. AND WE'LL 332 00:13:48,060 --> 00:13:51,030 TALK ABOUT THE HOPE AND PROMISE 333 00:13:51,096 --> 00:13:52,464 OF PERSONALIZED TREAT 334 00:13:52,531 --> 00:13:53,098 STRATEGIES. 335 00:13:53,165 --> 00:13:56,669 BY POOLING OUR KNOWLEDGE WE 336 00:13:56,735 --> 00:13:58,704 UNCOVERED COMMON GENETIC THREADS 337 00:13:58,771 --> 00:14:01,907 FROM GENE THERAPY APPROACHES AND 338 00:14:01,974 --> 00:14:06,278 MANY GENETIC DISEASES CAN BE 339 00:14:06,345 --> 00:14:08,347 TREATED WITH MORE OF THE 340 00:14:08,414 --> 00:14:09,515 STREAMLINE BASED TECHNOLOGY IN 341 00:14:09,582 --> 00:14:10,783 THE GENETIC APPROACHES. 342 00:14:10,849 --> 00:14:14,119 AND WE CAN ALSO BE THINK HOW WE 343 00:14:14,186 --> 00:14:15,888 CAN DESIGN NEW CLINICAL OR 344 00:14:15,955 --> 00:14:17,890 BASKET TRIALS TO TEST ONE 345 00:14:17,957 --> 00:14:19,658 THERAPY ON MANY DIFFERENT RARE 346 00:14:19,725 --> 00:14:20,059 DISEASES. 347 00:14:20,125 --> 00:14:22,027 IN THIS WAY WE'RE NOT JUST 348 00:14:22,094 --> 00:14:23,729 CHASING TREATMENTS. 349 00:14:23,796 --> 00:14:26,398 WE'RE LEAPFROGGING TOWARDS 350 00:14:26,465 --> 00:14:26,599 CURES. 351 00:14:26,665 --> 00:14:28,200 RARE DISEASE DAY IS A DAY TO 352 00:14:28,267 --> 00:14:30,970 CELEBRATE OUR SUCCESSES, HONOR 353 00:14:31,036 --> 00:14:34,506 THOSE WE HOLD DEAR AND HONOR 354 00:14:34,573 --> 00:14:36,275 THOSE WE'VE LOST. 355 00:14:36,342 --> 00:14:38,477 TODAY WE PAUSE GRANTING 356 00:14:38,544 --> 00:14:40,012 OURSELVES THE SPACE FOR 357 00:14:40,079 --> 00:14:41,814 CREATIVITY AND CONTEMPLATION SO 358 00:14:41,880 --> 00:14:44,016 TOMORROW WE CAN SPEED UP WITH A 359 00:14:44,083 --> 00:14:45,050 RENEWED SENSE OF PURPOSE AND 360 00:14:45,117 --> 00:14:46,352 THAT PURPOSE NEEDS ALL OF YOU. 361 00:14:46,418 --> 00:14:48,287 I'M SO DELIGHTED TO SHARE THIS 362 00:14:48,354 --> 00:14:51,423 EVENT WITH YOU TODAY AND I'M SO 363 00:14:51,490 --> 00:14:52,491 GLAD YOU WERE ABLE TO JOIN 364 00:14:52,558 --> 00:14:52,725 TODAY. 365 00:14:52,791 --> 00:14:54,426 I WANT TO GO AHEAD AND GET TO 366 00:14:54,493 --> 00:14:56,061 IT. 367 00:14:56,128 --> 00:15:06,438 THANK YOU SO MUCH. 368 00:15:15,648 --> 00:15:17,983 >> JIM TOOK THE HELM IN 2017 AND 369 00:15:18,050 --> 00:15:21,553 NOW STEERS ONE OF THE PREMIER 370 00:15:21,620 --> 00:15:23,656 RESEARCH HOSPITALS AT THE NIH ON 371 00:15:23,722 --> 00:15:25,057 CAMPUS AND HIS LEADERSHIP 372 00:15:25,124 --> 00:15:26,292 EMPHASIZES PATIENT SAFETY AND 373 00:15:26,358 --> 00:15:27,993 QUALITY AND CARE AND THE 374 00:15:28,060 --> 00:15:29,028 DEVELOPMENT OF NEW HOSPITAL 375 00:15:29,094 --> 00:15:30,296 OPERATIONS AND POLICIES AND HE 376 00:15:30,362 --> 00:15:32,865 IS DEDICATED TO SUPPORTING THE 377 00:15:32,931 --> 00:15:35,501 RARE DISEASES AND THE RESEARCH 378 00:15:35,567 --> 00:15:36,135 THAT WE DO. 379 00:15:36,201 --> 00:15:38,070 WITH THAT I WANT TO BRING 380 00:15:38,137 --> 00:15:46,712 DR. GILLMAN UP AND DIRECTED 381 00:15:46,779 --> 00:15:48,447 HOSPITALS AN SHAPED POLICY 382 00:15:48,514 --> 00:15:50,849 WITHIN THE SURGEON GENERAL'S 383 00:15:50,916 --> 00:15:54,520 OFFICE BEFORE RETIRING WITH THE 384 00:15:54,586 --> 00:15:56,055 RANK OF GENERAL AND IT'S MY 385 00:15:56,121 --> 00:15:58,524 PLEASURE TO BRING HIM UP TO THE 386 00:15:58,590 --> 00:16:01,560 STAGE. 387 00:16:01,627 --> 00:16:12,004 THANK YOU, DR. GILMAN. 388 00:16:16,508 --> 00:16:19,545 >> GOOD MORNING AND WELCOME BOTH 389 00:16:19,611 --> 00:16:25,551 TO ALL OF YOU THAT ARE HERE IN 390 00:16:25,617 --> 00:16:31,290 THE AUDITORIUM AND THOSE WHO ARE 391 00:16:31,357 --> 00:16:35,294 IN THE VIRTUAL ROOM. 392 00:16:35,361 --> 00:16:37,563 THE NIH CLINICAL CENTER IS THE 393 00:16:37,629 --> 00:16:38,797 HOSPITAL AT THE CENTER OF THE 394 00:16:38,864 --> 00:16:39,732 NATIONAL INSTITUTES OF HEALTH IS 395 00:16:39,798 --> 00:16:41,567 A KEY PARTNER IN RESEARCH INTO 396 00:16:41,633 --> 00:16:51,877 RARE DISEASES. 397 00:17:01,854 --> 00:17:03,689 THIS CONFERENCE GOT TOO BIG TO 398 00:17:03,756 --> 00:17:05,557 HOLD IN BUILDING 10. 399 00:17:05,624 --> 00:17:08,193 IT'S THE PRIDE A PARENT HAS WHEN 400 00:17:08,260 --> 00:17:09,561 THEY WATCH THEIR CHILD GROW UP 401 00:17:09,628 --> 00:17:16,602 AND MOVE OUT IN THE WORLD. 402 00:17:16,668 --> 00:17:18,604 THE CLINICAL CENTER HAS FONDNESS 403 00:17:18,670 --> 00:17:23,409 FOR RARE DISEASE DAY. 404 00:17:23,475 --> 00:17:24,309 THEY DO MORE RARE DISEASE 405 00:17:24,376 --> 00:17:26,111 RESEARCH THAN ANY PLACE ON THE 406 00:17:26,178 --> 00:17:26,345 PLANET. 407 00:17:26,412 --> 00:17:27,880 WE'RE NOT SURE ABOUT THE REST OF 408 00:17:27,946 --> 00:17:31,183 THE UNIVERSE BUT WE HAVE THE 409 00:17:31,250 --> 00:17:32,951 SOLAR SYSTEM DOWN. 410 00:17:33,018 --> 00:17:35,788 THE PARTNERSHIP BETWEEN PATIENTS 411 00:17:35,854 --> 00:17:40,492 AND RESEARCHERS RESULTED IN 412 00:17:40,559 --> 00:17:40,993 MILESTONE. 413 00:17:41,059 --> 00:17:42,628 THE DEVELOPMENT OF CHEMOTHERAPY 414 00:17:42,694 --> 00:17:45,230 AND THE FIRST CURE OF CANCER BY 415 00:17:45,297 --> 00:17:46,498 CHEMOTHERAPY TO PLACE IN THE 416 00:17:46,565 --> 00:17:46,865 CLINICAL CENTER. 417 00:17:46,932 --> 00:17:50,102 THE FIRST USE OF AN IMMUNOTOXIN 418 00:17:50,169 --> 00:17:52,404 TO TREAT A MALIGNANCY. 419 00:17:52,471 --> 00:17:55,874 IDENTIFICATION OF THE GENES THAT 420 00:17:55,941 --> 00:17:56,942 THAT CAUSE KIDNEY CANCER LEADING 421 00:17:57,009 --> 00:18:01,613 TO SIX TARGETED TREATMENTS FOR 422 00:18:01,680 --> 00:18:04,383 ADVANCED KIDNEY ANSWER. 423 00:18:04,450 --> 00:18:05,584 DEMONSTRATING LITHIUM HELPS 424 00:18:05,651 --> 00:18:06,285 TREAT DEPRESSION. 425 00:18:06,351 --> 00:18:07,786 FIRST GENE THERAPIES WERE 426 00:18:07,853 --> 00:18:08,654 APPLIED THERE. 427 00:18:08,720 --> 00:18:18,330 THE FIRST TREATMENT OF AIDS WITH 428 00:18:18,397 --> 00:18:20,098 ANTIRETROVIRALS AND TESTING HIV 429 00:18:20,165 --> 00:18:22,167 AND HEPATITIS VIRUS IN BLOOD 430 00:18:22,234 --> 00:18:23,502 LEADING TO A SAFER BLOOD SUPPLY 431 00:18:23,569 --> 00:18:25,571 NOT ONLY IN THIS COUNTRY BUT 432 00:18:25,637 --> 00:18:26,238 AROUND THE WORLD. 433 00:18:26,305 --> 00:18:30,642 ONE OF OUR SCIENTISTS WAS A 434 00:18:30,709 --> 00:18:32,110 CO-WINNER OF THE 2020 NOBEL 435 00:18:32,177 --> 00:18:37,583 PRIZE FOR HIS WORK ON THE 436 00:18:37,649 --> 00:18:46,892 DISCOVERY OF HEPATITIS C. 437 00:18:46,959 --> 00:18:48,193 CLINICAL RESEARCHERS COME FROM 438 00:18:48,260 --> 00:18:50,095 AROUND THE WORLD AND ABOUT HALF 439 00:18:50,162 --> 00:18:52,364 OUR STUDIES ARE OF THE NATURAL 440 00:18:52,431 --> 00:18:53,565 HISTORY OF DISEASE, ESPECIALLY 441 00:18:53,632 --> 00:18:58,971 RARE DISEASE. 442 00:18:59,037 --> 00:19:01,573 THEY'RE OFTEN NOT STUDIED 443 00:19:01,640 --> 00:19:03,942 ANYWHERE ELSE, BY THE WAY, THERE 444 00:19:04,009 --> 00:19:05,043 NEEDS TO BE MORE TREATMENT 445 00:19:05,110 --> 00:19:06,378 TRIALS OR THE RARE DISEASES AT 446 00:19:06,445 --> 00:19:08,213 THE NIH CLINICAL CENTER AND 447 00:19:08,280 --> 00:19:11,016 DR. RUTTER AND I HAVE RECENTLY 448 00:19:11,083 --> 00:19:13,552 SPENT TIME TRYING TO MAKE THAT 449 00:19:13,619 --> 00:19:18,924 CAN HAPPEN. 450 00:19:18,991 --> 00:19:21,493 NIH UNDIAGNOSED DISEASE PROGRAM 451 00:19:21,560 --> 00:19:22,461 WAS HOUSED AT THE CLINICAL 452 00:19:22,528 --> 00:19:23,862 CENTER AND STILL IS. 453 00:19:23,929 --> 00:19:25,664 THE PROGRAM EXPANDED IN THE 454 00:19:25,731 --> 00:19:30,769 UNDIAGNOSED DISEASES NETWORK 455 00:19:30,836 --> 00:19:32,104 WITH MULTIPLE SITES THROUGHOUT 456 00:19:32,170 --> 00:19:33,372 THE COUNTRY AND STILL HAS A HOME 457 00:19:33,438 --> 00:19:35,173 IN OUR HOSPITAL. 458 00:19:35,240 --> 00:19:38,110 THE UNDIAGNOSED NETWORK FOCUSES 459 00:19:38,176 --> 00:19:41,547 ON RARE DISEASES AND MOST RARE 460 00:19:41,613 --> 00:19:45,551 MEDICAL CASES. 461 00:19:45,617 --> 00:19:50,188 THERE WAS A WONDERFUL WRITE-UP 462 00:19:50,255 --> 00:19:57,563 IN THE ISSUE OF THE WASHING 463 00:19:57,629 --> 00:19:59,831 WASHINGTONIAN MAGAZINE AND 464 00:19:59,898 --> 00:20:08,106 FEATURES THE TEAM OF MEDICAL 465 00:20:08,173 --> 00:20:10,642 DETECTIVES. 466 00:20:10,709 --> 00:20:13,412 THIS WORK HELPS PATIENTS WITH 467 00:20:13,478 --> 00:20:14,146 RARE CONDITIONS AND HELPS THE 468 00:20:14,212 --> 00:20:18,016 HEALTH OF OUR NATION. 469 00:20:18,083 --> 00:20:20,152 SOME PATIENTS WITH RARE DISEASE 470 00:20:20,218 --> 00:20:22,187 TAUGHT US MORE ABOUT COMMON 471 00:20:22,254 --> 00:20:25,791 CONDITIONS SUCH AS OSTEOPOROSIS, 472 00:20:25,857 --> 00:20:27,593 KIDNEY STONES, VIRAL COLLECTIONS 473 00:20:27,659 --> 00:20:34,366 AND CHOLESTEROL METABOLISM. 474 00:20:34,433 --> 00:20:37,536 ADVANCES IN DIAGNOSIS OF RARE 475 00:20:37,603 --> 00:20:39,538 DISEASE ARE GRATIFYING BUT NOT 476 00:20:39,605 --> 00:20:40,172 ENOUGH. 477 00:20:40,238 --> 00:20:42,341 THE 7,000 IDENTIFIED RARE AND 478 00:20:42,407 --> 00:20:43,575 NEGLECTED DISEASES FOR WHICH WE 479 00:20:43,642 --> 00:20:45,410 KNOW THE MOLECULAR CAUSE, ONLY 480 00:20:45,477 --> 00:20:48,513 ABOUT 500 HAVE APPROVED 481 00:20:48,580 --> 00:20:48,814 TREATMENTS. 482 00:20:48,880 --> 00:20:51,083 NIH IS COLLABORATING WITH 483 00:20:51,149 --> 00:20:52,017 MULTIPLE PARTNERS TO SPEED UP 484 00:20:52,084 --> 00:20:53,485 THE DEVELOPMENT OF EFFECTIVE 485 00:20:53,552 --> 00:20:54,920 TREATMENTS AND THE CLINICAL 486 00:20:54,987 --> 00:21:00,359 CENTER IS PROUD TO PLAY AN 487 00:21:00,425 --> 00:21:10,969 IMPORTANT ROLE AND WE UNDERSTAND 488 00:21:12,671 --> 00:21:13,839 FOR US IT'S SCIENTIFICALLY 489 00:21:13,905 --> 00:21:14,940 INTERESTING BUT WE DO UNDERSTAND 490 00:21:15,007 --> 00:21:21,046 THAT FOR MANY OF YOU, THIS IS A 491 00:21:21,113 --> 00:21:24,082 MUCH MORE URGENT MISSION AND WE 492 00:21:24,149 --> 00:21:25,550 APPRECIATE YOUR HELP IN PURSUING 493 00:21:25,617 --> 00:21:27,853 THAT MISSION. 494 00:21:27,919 --> 00:21:29,588 SO WHAT CAN YOU DO? 495 00:21:29,655 --> 00:21:33,325 WELL, IF YOU'RE ON SITE YET, OUR 496 00:21:33,392 --> 00:21:37,529 PATIENT RECRUITMENT STAFF FROM 497 00:21:37,596 --> 00:21:40,499 THE CLINICAL CENTER ARE HERE AND 498 00:21:40,565 --> 00:21:41,333 SHARE YOUR STORY. 499 00:21:41,400 --> 00:21:44,236 WE WANT TO MEET I AND SEE IF WE 500 00:21:44,302 --> 00:21:44,803 CAN HELP. 501 00:21:44,870 --> 00:21:49,975 FOR THOSE AT HOME, THE RARE 502 00:21:50,042 --> 00:21:51,777 DISEASE DAY SITE WILL ALSO HAVE 503 00:21:51,843 --> 00:21:52,611 THE CONTACT INFORMATION. 504 00:21:52,678 --> 00:21:56,014 THANK YOU ALL FOR COMING AND FOR 505 00:21:56,081 --> 00:22:00,285 SUPPORTING RARE DISEASE DAY. 506 00:22:00,352 --> 00:22:02,421 THANK YOU FOR YOUR WORK ON 507 00:22:02,487 --> 00:22:03,455 CAPITOL HILL IN PREPARATION FOR 508 00:22:03,522 --> 00:22:03,822 THIS DAY. 509 00:22:03,889 --> 00:22:09,528 THEY DON'T WANT ME TO GO UP AND 510 00:22:09,594 --> 00:22:14,132 TELL THEM ABOUT BUT REMIND THEM 511 00:22:14,199 --> 00:22:14,966 WE MADE PROGRESS BUT THEY CAN DO 512 00:22:15,033 --> 00:22:17,569 BETTER. 513 00:22:17,636 --> 00:22:27,813 THANK YOU. 514 00:22:41,727 --> 00:22:43,962 >> THAT WAS A GREAT SEGUE 515 00:22:44,029 --> 00:22:45,197 BECAUSE YOU KNOW THERE'S VIDEOS 516 00:22:45,263 --> 00:22:49,601 WE SHOW FROM THE CO-CHAIRS OF 517 00:22:49,668 --> 00:22:55,006 THE CONGRESSIONAL CAUCUS. 518 00:22:55,073 --> 00:23:01,580 WE HAVE SENATOR KLOBUCHAR AND 519 00:23:01,646 --> 00:23:05,550 CONGRESS MATSUI AND 520 00:23:05,617 --> 00:23:12,491 REPRESENTATIVE BILIRAKIS AND 521 00:23:12,557 --> 00:23:17,395 SENATOR WICKER AND THEY HAVE 522 00:23:17,462 --> 00:23:20,532 SENT A VIDEO TO SHARE THE ROLE 523 00:23:20,599 --> 00:23:22,567 THEY PLAY AND THE PROGRESS THEY 524 00:23:22,634 --> 00:23:25,337 HAVE FOR PROGRESS. 525 00:23:25,403 --> 00:23:31,276 WE APPRECIATE THE BICAMERAL 526 00:23:31,343 --> 00:23:33,111 SUPPORT AND I THINK IT REFLECTS 527 00:23:33,178 --> 00:23:35,280 AND EMPHASIZES THE IMPACT ALL OF 528 00:23:35,347 --> 00:23:37,282 YOU ARE HAVING ON THEM. 529 00:23:37,349 --> 00:23:39,351 THE ISSUES FACED BY OUR RARE 530 00:23:39,417 --> 00:23:40,418 DISEASE COMMUNITY ARE RECOGNIZED 531 00:23:40,485 --> 00:23:43,121 AT THE HIGHEST LEVEL OF OUR 532 00:23:43,188 --> 00:23:43,455 GOVERNMENT. 533 00:23:43,522 --> 00:23:46,057 I THANK HERE TO REALLY TELL YOU 534 00:23:46,124 --> 00:23:46,258 THAT. 535 00:23:46,324 --> 00:23:49,027 IN OTHER WORDS, WE SEE THAT. 536 00:23:49,094 --> 00:23:50,462 WITH THAT LET'S ROLL THE TAPE. 537 00:23:50,529 --> 00:23:53,331 WE'LL GO IN ORDER I THINK FROM 538 00:23:53,398 --> 00:23:58,303 SENATOR KLOBUCHAR AND 539 00:23:58,370 --> 00:24:04,943 CONGRESSWOMAN MATSUI AND 540 00:24:05,010 --> 00:24:05,844 REPRESENTATIVE BILIRAKIS AND 541 00:24:05,911 --> 00:24:06,578 SENATOR WICKER. 542 00:24:06,645 --> 00:24:08,780 >> WELCOME TO THE 2024 RARE 543 00:24:08,847 --> 00:24:10,849 DISEASE DAY AT THE NIH AND THANK 544 00:24:10,916 --> 00:24:14,152 YOU TO DR. BERTAGNOLLI AND 545 00:24:14,219 --> 00:24:17,189 DR. RUTTER AND DR. GILMAN FOR 546 00:24:17,255 --> 00:24:18,089 YOUR LEADERSHIP AND EVERYONE 547 00:24:18,156 --> 00:24:21,560 GATHERED TODAY FOR WHAT YOU DO. 548 00:24:21,626 --> 00:24:26,131 I KNOW MY COLLEAGUES AND I KNOW 549 00:24:26,198 --> 00:24:28,300 WE ARE ADVOCATES TO END RARE 550 00:24:28,366 --> 00:24:29,701 DISEASES AS WE KNOW THEM. 551 00:24:29,768 --> 00:24:31,670 I'M IN THE FIGHT BECAUSE OF 552 00:24:31,736 --> 00:24:33,171 PEOPLE LIKE ABBY HOUSER. 553 00:24:33,238 --> 00:24:36,675 A MINNESOTA NATIVE IS ONE OF 30 554 00:24:36,741 --> 00:24:38,143 MILLION AMERICANS LIVING WITH 555 00:24:38,210 --> 00:24:41,546 ONE OF 10,000 KNOWN RARE 556 00:24:41,613 --> 00:24:43,148 DISEASES BUT HER CONDITION 557 00:24:43,215 --> 00:24:44,115 HASN'T STOPPED HER FROM 558 00:24:44,182 --> 00:24:44,416 THRIVING. 559 00:24:44,482 --> 00:24:47,419 THESE A MARATHON FINISHER, 560 00:24:47,485 --> 00:24:50,021 CHAMPION FOR INCLUSIVITY IN 561 00:24:50,088 --> 00:24:51,456 SPORTS AND THE BOARD MEMBER OF 562 00:24:51,523 --> 00:24:53,558 THE EVERY RIGHT FOUNDATION FOR 563 00:24:53,625 --> 00:24:54,593 RARE DISEASES FIGHTING FOR A 564 00:24:54,659 --> 00:24:55,560 RESEARCH WHERE RESEARCH GIVES 565 00:24:55,627 --> 00:24:56,595 EVERYONE A CHANCE TO FIGHT. 566 00:24:56,661 --> 00:25:01,566 I KNOW ABBY THROUGH HER RARE 567 00:25:01,633 --> 00:25:02,667 DISEASE PATIENT ADVOCACY AND 568 00:25:02,734 --> 00:25:04,469 HAVE SEEN HER IN D.C. 569 00:25:04,536 --> 00:25:07,272 INSPIRED BY HER I AM DEDICATED 570 00:25:07,339 --> 00:25:08,673 MAKING SURE NO PATIENT MISSES 571 00:25:08,740 --> 00:25:12,110 OUT ON OR HAS TO FIGHT FOR CARE, 572 00:25:12,177 --> 00:25:13,111 TREATMENTS OR CURES JUST BECAUSE 573 00:25:13,178 --> 00:25:14,980 THEIR CONDITION IS LESS COMMON 574 00:25:15,046 --> 00:25:17,549 THAN SOMEONE ELS. 575 00:25:17,616 --> 00:25:19,484 I'M FOCUSSED ON PUTTING FEDERAL 576 00:25:19,551 --> 00:25:20,652 DOLLARS INTO RESEARCH. 577 00:25:20,719 --> 00:25:22,320 INVESTMENT WE MAKE TODAY WILL 578 00:25:22,387 --> 00:25:24,022 PAVE THE WAY FOR CUTTING EDGE 579 00:25:24,089 --> 00:25:25,790 TREATMENTS AND CURES OF 580 00:25:25,857 --> 00:25:26,124 TOMORROW. 581 00:25:26,191 --> 00:25:28,760 LAST YEAR FOR THE NINTH YEAR 582 00:25:28,827 --> 00:25:30,962 CONGRESS SECURED SIGNIFICANT 583 00:25:31,029 --> 00:25:34,199 FUNDING BOOST FOR THE NIH. 584 00:25:34,266 --> 00:25:35,333 PERSONALIZED MEDICINE INCLUDING 585 00:25:35,400 --> 00:25:39,204 AT MAYO CLIN IN MINNESOTA, IS 586 00:25:39,271 --> 00:25:43,808 REALLY EXCITING. 587 00:25:43,875 --> 00:25:47,012 ALL THE WORK THAT FRANCES 588 00:25:47,078 --> 00:25:48,813 COLLINS AND YOU HAVE DONE ON THE 589 00:25:48,880 --> 00:25:52,884 HUMAN GENOME AND THE SCARY PARTS 590 00:25:52,951 --> 00:25:58,556 OF A.I. BUT THE POTENTIAL TO 591 00:25:58,623 --> 00:26:00,892 HELP WITH RARE DISEASES CAN'T BE 592 00:26:00,959 --> 00:26:01,626 FORGOTTEN. 593 00:26:01,693 --> 00:26:03,795 I ALSO WANT TO EMPOWER PATIENTS 594 00:26:03,862 --> 00:26:05,931 AND FAMILIES TO PLAY A LARGER 595 00:26:05,997 --> 00:26:08,166 ROOM IN THE TREATMENT, RESEARCH 596 00:26:08,233 --> 00:26:10,902 AND APPROVAL PROCESS. 597 00:26:10,969 --> 00:26:13,672 I'M PROUD OF LEGISLATION TO HELP 598 00:26:13,738 --> 00:26:15,340 HOW HOW TO WORK WITH PATIENTS 599 00:26:15,407 --> 00:26:19,477 BECAME LAW AND MORE TO DO. 600 00:26:19,544 --> 00:26:21,546 AS CO-CHAIR OF THE BIPARTISAN 601 00:26:21,613 --> 00:26:22,447 RARE DISEASE CONGRESSIONAL 602 00:26:22,514 --> 00:26:24,816 CAUCUS I'M PUSHING THE FDA TO 603 00:26:24,883 --> 00:26:27,485 IMPROVE RELIABILITY IN HOW THEY 604 00:26:27,552 --> 00:26:28,119 REVIEW APPLICATION FOR RARE 605 00:26:28,186 --> 00:26:29,287 DISEASE THERAPIES. 606 00:26:29,354 --> 00:26:31,189 I HEARD FROM SO MANY ADVOCATES, 607 00:26:31,256 --> 00:26:33,558 PHYSICIANS AND SCIENTISTS, 608 00:26:33,625 --> 00:26:41,366 THERE'S INCONSISTENCIES BETWEEN 609 00:26:41,433 --> 00:26:42,334 PATIENTS AND RECORDS AND MAKE 610 00:26:42,400 --> 00:26:45,971 SURE TREATMENT ARE APPROVED. 611 00:26:46,037 --> 00:26:49,441 THIS IS IMPORTANT FOR KIDS BORN 612 00:26:49,507 --> 00:26:53,345 WITH RARE DISEASES AND RARE 613 00:26:53,411 --> 00:26:54,813 GENETIC CONDITIONS START IN 614 00:26:54,879 --> 00:26:58,883 CHILDHOOD AND WITH COLLEAGUES ON 615 00:26:58,950 --> 00:27:00,852 BOTH SIDES OF THE AISLE I'M 616 00:27:00,919 --> 00:27:01,619 IMPROVING ACCESS TO CARE FOR 617 00:27:01,686 --> 00:27:02,887 RARE DISEASE PATIENTS. 618 00:27:02,954 --> 00:27:04,956 WORKING WITH SO MANY WE MADE 619 00:27:05,023 --> 00:27:07,459 STRIDES IN NEWBORN SCREENINGS TO 620 00:27:07,525 --> 00:27:09,461 EMPOWER THE FAMILIES OF BABIES 621 00:27:09,527 --> 00:27:10,729 BORN WITH RARE DISEASE TO BEGIN 622 00:27:10,795 --> 00:27:12,197 THE MOST EFFECTIVE TREATMENTS AS 623 00:27:12,263 --> 00:27:12,697 SOON AS POSSIBLE. 624 00:27:12,764 --> 00:27:17,569 IN MY OWN STATE OF MINNESOTA WE 625 00:27:17,635 --> 00:27:19,804 WORKED HARD TO OFFER A 626 00:27:19,871 --> 00:27:20,472 COMPREHENSIVE SCREENING PROGRAMS 627 00:27:20,538 --> 00:27:22,507 BUT NEED TO ENSURE FAMILIES IN 628 00:27:22,574 --> 00:27:24,776 EVERY STATE CAN RECEIVE 629 00:27:24,843 --> 00:27:25,677 EFFECTIVE AND AFFORDABLE 630 00:27:25,744 --> 00:27:26,511 SCREENINGS. 631 00:27:26,578 --> 00:27:28,213 WE KNOW EARLY DETECTION AND 632 00:27:28,279 --> 00:27:30,081 DIAGNOSIS CAN MAKE THE WORLD OF 633 00:27:30,148 --> 00:27:30,515 DIFFERENCE. 634 00:27:30,582 --> 00:27:34,085 I'M DEDICATED TO ENSURING EVERY 635 00:27:34,152 --> 00:27:35,653 INFANT HAS ACCESS TO SCREENS 636 00:27:35,720 --> 00:27:41,026 THAT RELIABLY DETECT RARE 637 00:27:41,092 --> 00:27:41,626 CONDITIONS. 638 00:27:41,693 --> 00:27:42,827 I'M ALSO LEADING BIPARTISAN 639 00:27:42,894 --> 00:27:44,229 LEGISLATION TO ENSURE PATIENTS 640 00:27:44,295 --> 00:27:47,799 WITH RARE CANCERS CAN ACCESS 641 00:27:47,866 --> 00:27:51,002 MOLECULAR DIAGNOSTIC TESTING ONE 642 00:27:51,069 --> 00:27:52,937 OF THE MOST POWERFUL TOOLS FOR 643 00:27:53,004 --> 00:27:54,773 TREATING RARE CANCERS AT THEIR 644 00:27:54,839 --> 00:27:55,673 INITIAL DIAGNOSIS. 645 00:27:55,740 --> 00:27:57,409 THERE'S SO MUCH WORK TO DO AND I 646 00:27:57,475 --> 00:28:00,612 KNOW YOU KNOW THAT TOO BUT 647 00:28:00,678 --> 00:28:01,546 THANKS TO THE BREAKS THROUGH AT 648 00:28:01,613 --> 00:28:03,114 THE NIH AND THE WORK EVERYONE 649 00:28:03,181 --> 00:28:04,816 GATHERED TODAY IS DOING I 650 00:28:04,883 --> 00:28:06,951 BELIEVE A FUTURE IS POSSIBLE 651 00:28:07,018 --> 00:28:07,919 WITHOUT RARE DISEASES. 652 00:28:07,986 --> 00:28:09,921 BEFORE I GO I WANT TO SHARE 653 00:28:09,988 --> 00:28:13,224 WORDS OF WISDOM FROM ABBY, SHE 654 00:28:13,291 --> 00:28:15,660 SAID, I REFUSE TO BE DEFINED BY 655 00:28:15,727 --> 00:28:20,198 THE GENETIC MUTATION WEAKENED 656 00:28:20,265 --> 00:28:24,002 THE COLLAGEN HOLDING MY BODY 657 00:28:24,069 --> 00:28:24,736 TOGETHER. 658 00:28:24,803 --> 00:28:29,574 IT WILL ALWAYS BE UNSTABLE BUT 659 00:28:29,641 --> 00:28:31,676 MY LIMITATIONS DO NOT DETERMINE 660 00:28:31,743 --> 00:28:32,377 WHO I AM. 661 00:28:32,444 --> 00:28:34,112 SHE'S RIGHT. 662 00:28:34,179 --> 00:28:36,147 LIMITATIONS DON'T DEFINE US OR 663 00:28:36,214 --> 00:28:37,248 YOU AND YOU'RE BREAKING THROUGH 664 00:28:37,315 --> 00:28:39,017 THOSE LIMITATIONS EVERY DAY. 665 00:28:39,084 --> 00:28:40,985 I KNOW EVERYONE GATHERED TODAY 666 00:28:41,052 --> 00:28:43,221 REFUSE TO LET OBSTACLES STAND IN 667 00:28:43,288 --> 00:28:46,624 THE WAY OF CURING RARE DISEASES. 668 00:28:46,691 --> 00:28:48,226 WORKING TOGETHER WILL DEVELOP 669 00:28:48,293 --> 00:28:50,128 TREATMENTS AND CURES AND SAVE 670 00:28:50,195 --> 00:28:50,628 LIVES. 671 00:28:50,695 --> 00:28:52,330 THANK YOU, KEEP UP THE 672 00:28:52,397 --> 00:28:54,232 INCREDIBLE WORK. 673 00:28:54,299 --> 00:28:55,033 HERE'S TO YOU. 674 00:28:55,100 --> 00:28:57,569 THERE'S A LOT GOING ON. 675 00:28:57,635 --> 00:29:00,672 HAVE FUN TODAY. 676 00:29:00,738 --> 00:29:04,776 >> THANK YOU FOR JOINING US FOR 677 00:29:04,843 --> 00:29:05,310 RARE DISEASE AT NIH. 678 00:29:05,376 --> 00:29:09,547 I WANT TO GIVE A SPECIAL THANK 679 00:29:09,614 --> 00:29:11,549 YOU TO ALL THE NIH STAFF AND THE 680 00:29:11,616 --> 00:29:12,750 PARTNERS WHO MAKE THIS POSSIBLE 681 00:29:12,817 --> 00:29:13,418 EVERY SINGLE YEAR. 682 00:29:13,485 --> 00:29:18,990 I ALSO WANT TO THANK EACH OF YOU 683 00:29:19,057 --> 00:29:20,191 FOR TAKING THE TIME TO BE WITH 684 00:29:20,258 --> 00:29:23,228 US TODAY, PATIENTS, FAMILIES AND 685 00:29:23,294 --> 00:29:24,362 CAREGIVERS IMPACTED BY RARE 686 00:29:24,429 --> 00:29:27,198 DISEASES AND THE RESEARCHERS WHO 687 00:29:27,265 --> 00:29:29,567 HAVE COMMITTED THEIR LIVES TO 688 00:29:29,634 --> 00:29:30,802 FINDING CURES. 689 00:29:30,869 --> 00:29:33,371 YOUR DEDICATION TO IMPROVING THE 690 00:29:33,438 --> 00:29:35,340 LIVES OF THE RARE DISEASE 691 00:29:35,406 --> 00:29:38,209 COMMUNITY IS FOUNDATIONAL TO THE 692 00:29:38,276 --> 00:29:41,546 WORK WE DO IN CONGRESS. 693 00:29:41,613 --> 00:29:44,215 AS CO-CHAIR OF THE RARE DISEASE 694 00:29:44,282 --> 00:29:46,351 CONGRESSIONAL CAUCUS, I DEEPLY 695 00:29:46,417 --> 00:29:49,487 UNDERSTAND THE UNIQUE NEEDS OF 696 00:29:49,554 --> 00:29:51,289 THIS COMMUNITY AND THE 697 00:29:51,356 --> 00:29:53,558 CHALLENGES IN ACCESSING CRUCIAL 698 00:29:53,625 --> 00:29:55,493 CARE. 699 00:29:55,560 --> 00:29:57,562 RARE DISEASE WEEK IS AN 700 00:29:57,629 --> 00:29:59,097 IMPORTANT TIME TO HAVE 701 00:29:59,164 --> 00:30:01,566 DISCUSSIONS LIKE THE ONES WE'RE 702 00:30:01,633 --> 00:30:02,634 HAVING TODAY. 703 00:30:02,700 --> 00:30:05,003 TO LEARN FROM EACH OTHER, THINK 704 00:30:05,069 --> 00:30:08,206 OUTSIDE THE BOX AND CHART A PATH 705 00:30:08,273 --> 00:30:10,575 FORWARD. 706 00:30:10,642 --> 00:30:14,846 LAST YEAR WE CELEBRATED 40 YEARS 707 00:30:14,913 --> 00:30:18,950 OF THE ORPHAN DRUG ACT WHICH HAS 708 00:30:19,017 --> 00:30:21,553 BEEN CRUCIAL TO ENCOURAGING 709 00:30:21,619 --> 00:30:22,353 PHARMACEUTICAL COMPANIES TO 710 00:30:22,420 --> 00:30:25,557 DEVELOP DRUGS FOR THE RARE 711 00:30:25,623 --> 00:30:27,559 DISEASE COMMUNITY. 712 00:30:27,625 --> 00:30:33,565 IT HAS BEEN A KEY DRIVER FOR 713 00:30:33,631 --> 00:30:44,108 DECADES OF INNOVATION THAT 714 00:30:47,145 --> 00:30:48,446 LEGISLATION CONTINUES TO BE 715 00:30:48,513 --> 00:30:48,713 IMPORTANT. 716 00:30:48,780 --> 00:30:49,981 DESPITE THE SUCCESS OF THE 717 00:30:50,048 --> 00:30:51,849 ORPHAN DRUG ACT OUT OF THE 7,000 718 00:30:51,916 --> 00:30:56,588 KNOWN RARE DISEASES, FEWER THAN 719 00:30:56,654 --> 00:30:58,489 10% HAVE A TREATMENT. 720 00:30:58,556 --> 00:31:00,658 THE BASIC SCIENCE RESEARCH ON 721 00:31:00,725 --> 00:31:02,260 RARE DISEASES CONDUCTED BY NIH 722 00:31:02,327 --> 00:31:05,997 AND ITS PARTNERS IS ESSENTIAL TO 723 00:31:06,064 --> 00:31:09,334 DEVELOPING EVIDENCE FOR THOSE 724 00:31:09,400 --> 00:31:10,768 NOVEL THERAPIES. 725 00:31:10,835 --> 00:31:13,638 FOR THE MILLIONS OF RARE DISEASE 726 00:31:13,705 --> 00:31:15,707 PATIENTS THROUGHOUT THE COUNTRY, 727 00:31:15,773 --> 00:31:18,576 WE MUST CONTINUE TO PUSH FORWARD 728 00:31:18,643 --> 00:31:22,213 AND THAT'S WHY DAYS LIKE TODAY 729 00:31:22,280 --> 00:31:23,815 ARE SO IMPORTANT. 730 00:31:23,881 --> 00:31:26,284 TO SHARE OUR STORIES AND ENGAGE 731 00:31:26,351 --> 00:31:35,093 IN PRODUCTIVE DIALOGUE ABOUT THE 732 00:31:35,159 --> 00:31:35,326 FUTURE. 733 00:31:35,393 --> 00:31:39,230 WE KNOW ACCESS TO THE BEST 734 00:31:39,297 --> 00:31:40,598 MEDICAL CARE IS CRUCIAL FOR 735 00:31:40,665 --> 00:31:43,001 PATIENTS LIVING WITH RARE AND 736 00:31:43,067 --> 00:31:45,036 ULTRA RARE DISEASES AND MADE IT 737 00:31:45,103 --> 00:31:47,238 A PRIORITY TO WORK ON POLICY TO 738 00:31:47,305 --> 00:31:48,840 VET THE SCIENCE OF RARE DISEASE 739 00:31:48,906 --> 00:31:53,978 THERAPIES AND EXPAND ACCESS TO 740 00:31:54,045 --> 00:31:59,584 CARE THROUGH CONGRESS I ADVANCED 741 00:31:59,651 --> 00:32:01,786 PATIENT ENGAGEMENT IN THE DRUG 742 00:32:01,853 --> 00:32:05,390 DEVELOPMENT PROCESS. 743 00:32:05,456 --> 00:32:08,192 I'M ALSO PROUD TO LEAD IT 744 00:32:08,259 --> 00:32:09,527 PROTECT RARE ACT WHICH WOULD 745 00:32:09,594 --> 00:32:13,531 SUPPORT PATIENTS WITH RARE AND 746 00:32:13,598 --> 00:32:16,834 ULTRA RARE DISEASES IN GETTING 747 00:32:16,901 --> 00:32:18,136 EVIDENCE-BASED MEDICALLY 748 00:32:18,202 --> 00:32:24,575 NECESSARY CARE COVERED BY HEALTH 749 00:32:24,642 --> 00:32:24,942 INSURANCE. 750 00:32:25,009 --> 00:32:29,614 I ALSO URGED THE FDA TO BRING 751 00:32:29,681 --> 00:32:31,683 MORE RELIABILITY AND CONSISTENCY 752 00:32:31,749 --> 00:32:33,584 OF THE PROCESS OF REVIEWING RARE 753 00:32:33,651 --> 00:32:36,421 DISEASE THERAPIES. 754 00:32:36,487 --> 00:32:38,222 AS 2024 CONTINUES, I LOOK 755 00:32:38,289 --> 00:32:40,491 FORWARD TO CONTINUING TO WORK 756 00:32:40,558 --> 00:32:43,027 TOGETHER WITH MY CAUCUS 757 00:32:43,094 --> 00:32:44,495 COLLEAGUES AND THE RARE DISEASE 758 00:32:44,562 --> 00:32:44,929 COMMUNITY. 759 00:32:44,996 --> 00:32:48,399 WE MUST FOCUS ON HOW WE CAN MAKE 760 00:32:48,466 --> 00:32:49,867 IMPORTANT PROGRESS TOWARD OUR 761 00:32:49,934 --> 00:32:53,571 GOAL TO IMPROVE THE LIVES OF 762 00:32:53,638 --> 00:32:55,340 PATIENTS AND FAMILIES. 763 00:32:55,406 --> 00:32:58,743 TODAY IS ABOUT THE ACTIONS WE'LL 764 00:32:58,810 --> 00:33:00,778 TAKE FOR TOMORROW, THE DAY AFTER 765 00:33:00,845 --> 00:33:04,282 THAT AND IN THE YEARS AHEAD. 766 00:33:04,349 --> 00:33:06,617 TO ADVANCE EFFORTS THAT SUPPORT 767 00:33:06,684 --> 00:33:08,252 INNOVATIVE THERAPIES AND 768 00:33:08,319 --> 00:33:10,121 EVENTUALLY CURES THAT WILL 769 00:33:10,188 --> 00:33:12,023 FOREVER CHANGE THE OUTLOOK OF 770 00:33:12,090 --> 00:33:16,728 THOSE LIVING WITH RARE DISEASES. 771 00:33:16,794 --> 00:33:18,663 I TRULY BELIEVE THE TREMENDOUS 772 00:33:18,730 --> 00:33:21,566 ADVANCEMENTS WE HAVE MADE IN 773 00:33:21,632 --> 00:33:22,533 RESEARCHING AND UNDERSTANDING 774 00:33:22,600 --> 00:33:25,503 THESE DISEASES WILL ONLY 775 00:33:25,570 --> 00:33:27,338 CONTINUE TO GROW. 776 00:33:27,405 --> 00:33:31,309 I LOOK FORWARD TO CONTINUING OUR 777 00:33:31,376 --> 00:33:34,879 WORK TOGETHER AND THANK YOU 778 00:33:34,946 --> 00:33:37,815 AGAIN FOR BEING TO SUPPORT THE 779 00:33:37,882 --> 00:33:38,316 RARE DISEASE COMMUNITY. 780 00:33:38,383 --> 00:33:42,220 THANK YOU. 781 00:33:42,286 --> 00:33:47,458 >> HELLO, MY NAME IS CONGRESS 782 00:33:47,525 --> 00:33:49,293 BILIRAKIS AND I APPRECIATE THE 783 00:33:49,360 --> 00:33:51,229 OPPORTUNITY TO PROVIDE BRIEF 784 00:33:51,295 --> 00:33:53,064 REMARKS FOR RARE DISEASE DAY 785 00:33:53,131 --> 00:33:53,398 2024. 786 00:33:53,464 --> 00:33:56,234 AS A SENIOR MEMBER OF THE 787 00:33:56,300 --> 00:34:00,905 COMMERCE COMMITTEE AND SERVING 788 00:34:00,972 --> 00:34:02,240 AS A CO-CHAIR OF THE RARE 789 00:34:02,306 --> 00:34:03,441 DISEASE CAUCUS I LOOK FORWARD TO 790 00:34:03,508 --> 00:34:04,776 HEARING FROM PATIENTS AND 791 00:34:04,842 --> 00:34:07,745 ADVANCING POLICY TO HELP MY 792 00:34:07,812 --> 00:34:08,146 CONSTITUENTS. 793 00:34:08,212 --> 00:34:10,014 WE KNOW THERE'S AN ESTIMATED 794 00:34:10,081 --> 00:34:11,916 7,000 RARE DISEASES, MOST OF 795 00:34:11,983 --> 00:34:15,853 WHICH HAVE NO TREATMENT OR CURE, 796 00:34:15,920 --> 00:34:16,187 UNFORTUNATELY. 797 00:34:16,254 --> 00:34:18,656 THERE'S SIGNIFICANT CHALLENGES 798 00:34:18,723 --> 00:34:19,824 TO DEVELOP THOSE TREATMENTS WITH 799 00:34:19,891 --> 00:34:25,296 SMALL POPULATIONS AND CLINICAL 800 00:34:25,363 --> 00:34:26,798 RARE DISEASE TRIAL BARRIERS. 801 00:34:26,864 --> 00:34:29,233 BUT I'M GRATEFUL FOR THE WORK 802 00:34:29,300 --> 00:34:30,635 DONE BY THE NATIONAL INSTITUTE 803 00:34:30,701 --> 00:34:33,571 OF HEALTH, SPECIFICALLY THE 804 00:34:33,638 --> 00:34:38,309 NATIONAL CANCER FOR ADVANCING 805 00:34:38,376 --> 00:34:40,511 TRANSLATIONAL SCIENCES OR NCATS. 806 00:34:40,578 --> 00:34:43,815 I'M A STRONG PROPONENT FOR 807 00:34:43,881 --> 00:34:45,817 ADDITIONAL FUNDING THE NIH AND 808 00:34:45,883 --> 00:34:50,955 TO NCATS FOR RESEARCH INTO WAYS 809 00:34:51,022 --> 00:34:52,290 WE CAN TRANSITION BASIC 810 00:34:52,356 --> 00:34:55,827 SCIENTIFIC AND MEDICAL 811 00:34:55,893 --> 00:34:57,361 DISCOVERIES INTO THE MARKET OF 812 00:34:57,428 --> 00:34:57,662 MEDICINES. 813 00:34:57,728 --> 00:34:58,863 THIS WORK IS CRITICAL 814 00:34:58,930 --> 00:35:01,332 PARTICULARLY FOR A NEW ERA OF 815 00:35:01,399 --> 00:35:05,536 CELL AND GENE THERAPIES TO 816 00:35:05,603 --> 00:35:07,438 PROVIDE FOR RARE DISEASE 817 00:35:07,505 --> 00:35:07,905 PATIENTS. 818 00:35:07,972 --> 00:35:10,041 BIOMEDICAL RESEARCH IS THE KEY 819 00:35:10,107 --> 00:35:13,845 TO DISCOVERING CURES AND SAVING 820 00:35:13,911 --> 00:35:14,045 LIVES. 821 00:35:14,111 --> 00:35:16,280 I'M GLAD TO SUPPORT CRITICAL 822 00:35:16,347 --> 00:35:18,783 FUNDING FOR THESE INITIATIVES 823 00:35:18,850 --> 00:35:20,485 HERE IN THE UNITED STATES 824 00:35:20,551 --> 00:35:21,285 CONGRESS. 825 00:35:21,352 --> 00:35:25,556 I'M ALSO VERY INTERESTED IN 826 00:35:25,623 --> 00:35:26,224 ENSURING THE BIO TECHNOLOGY 827 00:35:26,290 --> 00:35:27,725 MANUFACTURING ORGANIZATION HAVE 828 00:35:27,792 --> 00:35:30,728 THE INCENTIVE TO ACCELERATE 829 00:35:30,795 --> 00:35:33,564 TREATMENTS AND BRING THEM TO THE 830 00:35:33,631 --> 00:35:34,198 MARKETPLACE AND INTO PATIENT'S 831 00:35:34,265 --> 00:35:36,367 HANDS. 832 00:35:36,434 --> 00:35:37,835 THAT'S THE ULTIMATE GOAL, 833 00:35:37,902 --> 00:35:40,605 OBVIOUSLY FOR CURES AND 834 00:35:40,671 --> 00:35:41,539 TREATMENTS. 835 00:35:41,606 --> 00:35:43,774 PROGRAMS SUCH AS THE PEDIATRIC 836 00:35:43,841 --> 00:35:47,812 RARE REVIEW VOUCHER AT THE FDA 837 00:35:47,879 --> 00:35:49,981 AND OTHER MARKET BASE INCENTIVES 838 00:35:50,047 --> 00:35:50,748 PROVIDE SIGNIFICANT 839 00:35:50,815 --> 00:35:52,250 OPPORTUNITIES TO BRING MORE SAFE 840 00:35:52,316 --> 00:35:56,254 AND EFFECTIVE THERAPIES TO RARE 841 00:35:56,320 --> 00:35:56,954 DISEASE PATIENTS. 842 00:35:57,021 --> 00:35:59,857 WE MUST ENSURE THE PROGRAMS 843 00:35:59,924 --> 00:36:02,660 CONTINUE AND THE FDA SET UP FOR 844 00:36:02,727 --> 00:36:05,563 SUCCESS TO ACCELERATE APPROVALS 845 00:36:05,630 --> 00:36:07,298 OF THESE THERAPIES. 846 00:36:07,365 --> 00:36:11,168 MANY TREATMENTS BROUGHT TO THE 847 00:36:11,235 --> 00:36:13,404 MARKET FOR RARE DISEASE ARE 848 00:36:13,471 --> 00:36:15,139 FIRST IN KIND. 849 00:36:15,206 --> 00:36:22,914 BREAKTHROUGH TREATMENTS AND I 850 00:36:22,980 --> 00:36:24,282 HOPE WE CAN CONTINUE TO SURE 851 00:36:24,348 --> 00:36:25,650 THEY'RE AVAILABLE AND ACCESSIBLE 852 00:36:25,716 --> 00:36:26,951 FOR PATIENTS IN THE COMMUNITY. 853 00:36:27,018 --> 00:36:27,919 THAT'S THE KEY. 854 00:36:27,985 --> 00:36:31,289 THEY HAVE TO BE ACCESSIBLE AS 855 00:36:31,355 --> 00:36:32,290 WELL FOR PATIENTS WHO ARE NO 856 00:36:32,356 --> 00:36:37,862 OTHER OPTIONS AVAILABLE. 857 00:36:37,929 --> 00:36:39,063 PUBLIC-PRIVATE PARTNERSHIPS HAVE 858 00:36:39,130 --> 00:36:42,266 BEEN PROVEN TO BE A SUCCESSFUL 859 00:36:42,333 --> 00:36:45,536 MODEL TO GET THINGS DONE AND 860 00:36:45,603 --> 00:36:46,037 LEVERAGE EXPERTISE AND 861 00:36:46,103 --> 00:36:46,304 RESOURCES. 862 00:36:46,370 --> 00:36:48,372 I LOOK FORWARD TO WORKING WITH 863 00:36:48,439 --> 00:36:50,241 MY COLLEAGUES ON BOTH SIDES OF 864 00:36:50,308 --> 00:36:52,910 THE AISLE TO DEVELOP SOLUTIONS 865 00:36:52,977 --> 00:36:55,746 THAT WILL ACCELERATE FRAMEWORKS 866 00:36:55,813 --> 00:36:57,548 LIKE THESE AND CONTINUE TO SPUR 867 00:36:57,615 --> 00:36:59,483 INNOVATIVE IDEAS IN THE PUBLIC 868 00:36:59,550 --> 00:37:00,518 AND PRIVATE SECTOR. 869 00:37:00,585 --> 00:37:01,652 IT TAKES BOTH. 870 00:37:01,719 --> 00:37:05,823 IN FACT, ENTITIES SUCH AS THE 871 00:37:05,890 --> 00:37:07,625 ADVANCED RESEARCH PROJECTS 872 00:37:07,692 --> 00:37:09,460 AGENCY FOR HEALTH AND OTHERS CAN 873 00:37:09,527 --> 00:37:13,264 PROVIDE RENEWED HOPE TO FINDING 874 00:37:13,331 --> 00:37:15,433 AND DISCOVERING CURES. 875 00:37:15,499 --> 00:37:21,439 AGAIN, THANK YOU FOR INVITING ME 876 00:37:21,505 --> 00:37:23,741 TO PROVIDE REMARKS FOR RARE 877 00:37:23,808 --> 00:37:26,711 DISEASE DAY 2024. 878 00:37:26,777 --> 00:37:28,646 I ALSO ALWAYS APPRECIATE HEARING 879 00:37:28,713 --> 00:37:31,549 FROM MY CONSTITUENTS AND 880 00:37:31,616 --> 00:37:32,283 PATIENTS IN THE RARE DISEASE 881 00:37:32,350 --> 00:37:35,586 COMMUNITY FROM ALL OVER THE 882 00:37:35,653 --> 00:37:35,987 UNITED STATES. 883 00:37:36,053 --> 00:37:37,922 I HEARD FROM MANY THEM THIS PAST 884 00:37:37,989 --> 00:37:39,857 YEAR ON THE STRUGGLES THEY ARE 885 00:37:39,924 --> 00:37:42,460 FACING AND THEY HAVE IMPACTED ME 886 00:37:42,526 --> 00:37:44,996 GREATLY AND GIVEN ME A REASON TO 887 00:37:45,062 --> 00:37:50,001 BE UP HERE FIGHTING FOR A 888 00:37:50,067 --> 00:37:51,302 CHANGE. 889 00:37:51,369 --> 00:37:53,204 I'VE ALWAYS FOUND THAT PERSONAL 890 00:37:53,270 --> 00:37:56,273 INDIVIDUAL STORIES TRULY MAKE 891 00:37:56,340 --> 00:37:58,042 THE BIGGEST IMPACT. 892 00:37:58,109 --> 00:37:59,243 THEY TRULY INFLUENCE US AND WILL 893 00:37:59,310 --> 00:38:01,178 HELP GARNER THE SUPPORT. 894 00:38:01,245 --> 00:38:03,648 THESE STORIES HELP GARNER THE 895 00:38:03,714 --> 00:38:04,982 SUPPORT WE NEED TO CHANGE POLICY 896 00:38:05,049 --> 00:38:12,823 AND IMPROVE THE LIVES OF PAT 897 00:38:12,890 --> 00:38:13,324 PATIENTS NATIONWIDE. 898 00:38:13,391 --> 00:38:16,894 IT SHOULD BE A PRIORITY. 899 00:38:16,961 --> 00:38:19,363 THANK YOU FOR THE PARTICIPATION 900 00:38:19,430 --> 00:38:21,565 TODAY AND THANK YOU, NIH FOR 901 00:38:21,632 --> 00:38:23,000 HOSTING THIS GREAT EVENT AND 902 00:38:23,067 --> 00:38:24,035 SUPPORTING THIS WORTHWHILE 903 00:38:24,101 --> 00:38:24,568 ENDEAVOR. 904 00:38:24,635 --> 00:38:26,971 >> HELLO, THIS IS U.S. SENATOR 905 00:38:27,038 --> 00:38:28,439 ROGER WICKER FROM MISSISSIPPI. 906 00:38:28,506 --> 00:38:29,707 THANK YOU FOR BEING HERE TODAY. 907 00:38:29,774 --> 00:38:32,276 IT'S AN HONOR TO WORK TOGETHER 908 00:38:32,343 --> 00:38:37,081 TOWARD THE SHARED GOAL. 909 00:38:37,148 --> 00:38:38,282 OVER 25 MILLION AMERICANS SUFFER 910 00:38:38,349 --> 00:38:39,216 FROM RARE DISEASES. 911 00:38:39,283 --> 00:38:41,052 350 MILLION WORLDWIDE. 912 00:38:41,118 --> 00:38:43,621 THEY'RE OUR LOVED ONES AND NEXT 913 00:38:43,688 --> 00:38:45,322 DOOR NEIGHBOR. 914 00:38:45,389 --> 00:38:48,626 MANY ARE OUR CHILDREN. 915 00:38:48,693 --> 00:38:49,293 NATIONAL INSTITUTE OF HEALTH IS 916 00:38:49,360 --> 00:38:51,529 A SOURCE OF HOPE FOR THOSE 917 00:38:51,595 --> 00:38:52,730 LIVING WITH THESE DISEASES 918 00:38:52,797 --> 00:38:54,899 BY INVESTING IN THE NIH WE EQUIP 919 00:38:54,965 --> 00:38:58,402 THE BEST AND BRIGHTEST 920 00:38:58,469 --> 00:38:59,203 SCIENTISTS WORKING TOWARDS LIVE 921 00:38:59,270 --> 00:39:01,172 SAVING TREATMENTS AND CURES TO 922 00:39:01,238 --> 00:39:04,408 OUR MOST CHALLENGING CONDITIONS. 923 00:39:04,475 --> 00:39:05,342 THERE ARE OVER 7,000 RARE 924 00:39:05,409 --> 00:39:10,614 DISEASES BUT WE HAVE TREATMENTS 925 00:39:10,681 --> 00:39:11,816 FOR ONLY 500. 926 00:39:11,882 --> 00:39:14,685 I'M CONFIDENT THE RESEARCH WILL 927 00:39:14,752 --> 00:39:17,188 CONTINUE TO GOES THE GAP. 928 00:39:17,254 --> 00:39:19,056 EVERY DOLLAR COUNTS AND CONTINUE 929 00:39:19,123 --> 00:39:20,825 TO SUPPORT AND ESPECIALLY WITH 930 00:39:20,891 --> 00:39:22,159 AILMENTS WITH NO APPROVED 931 00:39:22,226 --> 00:39:22,593 TREATMENT. 932 00:39:22,660 --> 00:39:24,128 AS CO-CHAIR OF THE RARE DISEASE 933 00:39:24,195 --> 00:39:25,730 CAUCUS, I WILL CONTINUE FIGHTING 934 00:39:25,796 --> 00:39:32,803 THIS FIGHT. 935 00:39:32,870 --> 00:39:34,572 THIS CONGRESS I RE-INTRODUCED 936 00:39:34,638 --> 00:39:38,275 THE BENEFIT ACT TO HELP THE FDA 937 00:39:38,342 --> 00:39:40,544 APPROVAL PROCESS AND FRAMEWORK 938 00:39:40,611 --> 00:39:41,645 AND TAKE PATIENT EXPERIENCE INTO 939 00:39:41,712 --> 00:39:43,881 EXPERIENCE IN NEW WAYS. 940 00:39:43,948 --> 00:39:45,082 I'M COMMITTED TO GETTING THIS 941 00:39:45,149 --> 00:39:46,884 WORK OVER THE FINISH LINE. 942 00:39:46,951 --> 00:39:49,487 WE KNOW ALL TOO WELL THERE'S 943 00:39:49,553 --> 00:39:51,422 CHALLENGES AHEAD BUT THE 944 00:39:51,489 --> 00:39:52,656 PROGRESS WE'VE MADE HOLDS THE 945 00:39:52,723 --> 00:39:53,824 PROMISE OF GREATER BREAKTHROUGHS 946 00:39:53,891 --> 00:39:54,258 TO COME. 947 00:39:54,325 --> 00:39:55,893 THANK YOU ALL FOR YOUR 948 00:39:55,960 --> 00:39:56,994 COMMITMENT TO HELPING BETTER THE 949 00:39:57,061 --> 00:39:57,828 LIVES OF THOSE WHO HAVE RARE 950 00:39:57,895 --> 00:40:08,072 DISEASES. 951 00:40:11,742 --> 00:40:14,078 >> THAT WAS AMAZING. 952 00:40:14,145 --> 00:40:14,512 THANK YOU SO MUCH. 953 00:40:14,578 --> 00:40:16,480 AND NOW NEXT UP ON THE AGENDA IS 954 00:40:16,547 --> 00:40:21,786 ANOTHER INTRODUCTION I WANT TO 955 00:40:21,852 --> 00:40:22,186 MAKE. 956 00:40:22,253 --> 00:40:28,058 IT IS A REAL PLEASURE TO 957 00:40:28,125 --> 00:40:32,797 INTRODUCE DR. DOMINIQUE PICHARD 958 00:40:32,863 --> 00:40:34,832 THE NEW DIRECTOR FOR DRDRI. 959 00:40:34,899 --> 00:40:37,368 I'M SUPER EXCITED FOR HER. 960 00:40:37,434 --> 00:40:38,669 IT WILL BE HER FIRST RARE 961 00:40:38,736 --> 00:40:39,904 DISEASE DAY IN THIS ROLE. 962 00:40:39,970 --> 00:40:42,473 SHE'S NOW LEADING AND 963 00:40:42,540 --> 00:40:43,440 COORDINATING RARE DISEASE 964 00:40:43,507 --> 00:40:47,044 EFFORTS ACROSS NIH, ACROSS NCATS 965 00:40:47,111 --> 00:40:49,313 AND BEFORE HER ROLE AS NCATS SHE 966 00:40:49,380 --> 00:40:54,785 WAS THE CHIEF SCIENCE OFFICER AT 967 00:40:54,852 --> 00:40:56,987 THE NATIONAL SYNDROME FOUNDATION 968 00:40:57,054 --> 00:40:59,190 DRIVING INITIATIVES FOR RETT 969 00:40:59,256 --> 00:41:01,559 SYNDROME A RARE GENETIC 970 00:41:01,625 --> 00:41:02,793 NEUROLOGICAL DISORDER. 971 00:41:02,860 --> 00:41:05,563 HER BACKGROUND IS SHE RECEIVED 972 00:41:05,629 --> 00:41:07,698 HER MEDICAL DEGREE FROM 973 00:41:07,765 --> 00:41:09,233 GEORGETOWN UNIVERSITY SCHOOL OF 974 00:41:09,300 --> 00:41:11,669 MEDICINE AND MASTER'S DEGREE 975 00:41:11,735 --> 00:41:12,703 FROM THE MARYLAND UNIVERSITY 976 00:41:12,770 --> 00:41:18,275 SCHOOL OF MEDICINE AND HAS A 977 00:41:18,342 --> 00:41:21,245 DEPTH OF EXPERTISE IN MEDICINE 978 00:41:21,312 --> 00:41:22,112 AND TRANSLATIONAL RESEARCH AND 979 00:41:22,179 --> 00:41:24,381 IT'S AN HONOR FOR HER TO BE HERE 980 00:41:24,448 --> 00:41:27,952 TODAY AND HAVE HER HON OUR TEAM 981 00:41:28,018 --> 00:41:29,453 WITH HER EXPERIENCE AND HER 982 00:41:29,520 --> 00:41:30,688 PERSONALITY WHICH IS ALSO 983 00:41:30,754 --> 00:41:30,955 WONDERFUL. 984 00:41:31,021 --> 00:41:37,561 I WANT TO WELCOME HER TO THE 985 00:41:37,628 --> 00:41:47,738 STAGE. 986 00:41:59,717 --> 00:42:01,552 >> I'M DOMINIQUE PICHARD AND I 987 00:42:01,619 --> 00:42:05,556 HAVE THE HONOR AND PRIVILEGE OF 988 00:42:05,623 --> 00:42:06,090 LEADING THE RARE DISEASE 989 00:42:06,156 --> 00:42:08,092 RESEARCH INNOVATION DIVISION. 990 00:42:08,158 --> 00:42:11,028 AND BEFORE I TELL YOU ABOUT OUR 991 00:42:11,095 --> 00:42:12,096 DIVISION AND SOME OF THE WORK WE 992 00:42:12,162 --> 00:42:14,999 DO, I WANT TO TELL YOU WHERE MY 993 00:42:15,065 --> 00:42:16,233 STORY STARTED. 994 00:42:16,300 --> 00:42:19,570 THIS IS ME AT MY MEDICAL SCHOOL 995 00:42:19,637 --> 00:42:22,539 GRADUATION WITH MY SUPPORTIVE 996 00:42:22,606 --> 00:42:24,575 HUSBAND AND BEAUTIFUL PERFECT 997 00:42:24,642 --> 00:42:26,744 CHUBBY LITTLE FIRST BORN. 998 00:42:26,810 --> 00:42:29,947 I WAS SETTING UP ON A NEW 999 00:42:30,014 --> 00:42:30,247 ADVENTURE. 1000 00:42:30,314 --> 00:42:31,649 THIS WAS MY NEXT PHASE OF LIFE 1001 00:42:31,715 --> 00:42:32,583 AND A HAD PLANNED IT DOWN TO THE 1002 00:42:32,650 --> 00:42:33,717 MINUTE. 1003 00:42:33,784 --> 00:42:35,352 I'M A LITTLE BIT OF A PLANNER SO 1004 00:42:35,419 --> 00:42:37,454 I KNEW THE NEXT 50 YEARS OF MY 1005 00:42:37,521 --> 00:42:42,793 LIFE EXACTLY HOW THEY WOULD TURN 1006 00:42:42,860 --> 00:42:47,197 OUT AND THE ADVENTURE WAS 1007 00:42:47,264 --> 00:42:49,166 DIFFERENT THAN I HAD SO 1008 00:42:49,233 --> 00:42:50,634 DILIGENTLY PLANNED FOR. 1009 00:42:50,701 --> 00:42:54,772 IN MY INTERN YEAR, THIS 1010 00:42:54,838 --> 00:42:55,873 BEAUTIFUL LITTLE GIRL ONE NIGHT 1011 00:42:55,940 --> 00:42:57,374 LOST HER VERBAL LANGUAGE. 1012 00:42:57,441 --> 00:42:58,442 THAT WAS IT. 1013 00:42:58,509 --> 00:43:00,044 THE NEXT MORNING WE NO LONGER 1014 00:43:00,110 --> 00:43:00,644 HEARD HER WORDS. 1015 00:43:00,711 --> 00:43:06,417 SHE WAS NO LONGER SAYING MOM OR 1016 00:43:06,483 --> 00:43:07,818 HER WAY OF SAYING DOLL. 1017 00:43:07,885 --> 00:43:09,920 I BROUGHT HER TO THE 1018 00:43:09,987 --> 00:43:13,557 PEDIATRICIAN AND SAID, I THINK 1019 00:43:13,624 --> 00:43:16,760 SHE HAS RETT SYNDROME. 1020 00:43:16,827 --> 00:43:22,599 SHE SAID DON'T BE A NEUROTIC 1021 00:43:22,666 --> 00:43:24,635 DOCTOR DIAGNOSING YOUR FAMILY. 1022 00:43:24,702 --> 00:43:26,203 DIAGNOSE YOUR PATIENTS, LEAVE 1023 00:43:26,270 --> 00:43:27,137 YOUR FAMILY ALONE. 1024 00:43:27,204 --> 00:43:29,139 SOME HAVE HAD THE SAME FEELING. 1025 00:43:29,206 --> 00:43:39,750 I WAS NOT SEEN AND NOT HEARD AND 1026 00:43:41,552 --> 00:43:48,959 I KNEW HOW TO GET REFERRALS AND 1027 00:43:49,026 --> 00:43:50,094 WAS ABLE TO GET TESTS. 1028 00:43:50,160 --> 00:43:53,564 WE HAD GREAT INSURANCE. 1029 00:43:53,630 --> 00:43:55,733 I WAS VERY LUCKY. 1030 00:43:55,799 --> 00:43:57,768 IT STILL TOOK ALMOST A YEAR 1031 00:43:57,835 --> 00:43:59,303 BEFORE A NEUROLOGIST CALLED ME 1032 00:43:59,370 --> 00:44:01,572 AND SAID GUESS WHAT, WE HAVE 1033 00:44:01,638 --> 00:44:03,907 YOUR DIAGNOSIS. 1034 00:44:03,974 --> 00:44:05,576 YOU'RE DAUGHTER HAS RETT 1035 00:44:05,642 --> 00:44:05,876 SYNDROME. 1036 00:44:05,943 --> 00:44:07,244 I SAID YEAH, I KNOW. 1037 00:44:07,311 --> 00:44:09,346 I TOLD YOU THAT A YEAR AGO. 1038 00:44:09,413 --> 00:44:11,715 I WAS FORTUNATE TO GET THE EARLY 1039 00:44:11,782 --> 00:44:14,251 DIAGNOSIS BUT WE HAD NO EARLY 1040 00:44:14,318 --> 00:44:15,119 TREATMENTS. 1041 00:44:15,185 --> 00:44:17,354 THE DIVISION OF RARE DISEASE 1042 00:44:17,421 --> 00:44:20,190 RESEARCH INNOVATION WORKS HARD 1043 00:44:20,257 --> 00:44:21,392 TO ONE DAY FAMILIES DON'T HAVE 1044 00:44:21,458 --> 00:44:24,128 TO GO THROUGH THIS OR HAVE TO BE 1045 00:44:24,194 --> 00:44:25,662 DOCTORS WITH INSURANCE KNOWING 1046 00:44:25,729 --> 00:44:27,598 ALL THE SPECIALISTS AND WHAT 1047 00:44:27,664 --> 00:44:28,599 TEST TO ORDER TO GET A DIAGNOSIS 1048 00:44:28,665 --> 00:44:31,068 IN LESS THAN A YEAR. 1049 00:44:31,135 --> 00:44:33,637 WE GOT OUR FIRST FDA APPROVED 1050 00:44:33,704 --> 00:44:35,639 TREATMENT FOR RETT SYNDROME IN 1051 00:44:35,706 --> 00:44:45,816 2023. 1052 00:44:49,653 --> 00:44:51,288 RETT SYNDROME WAS DIAGNOSED IN 1053 00:44:51,355 --> 00:44:53,724 THE '80s AND I DON'T WANT OTHERS 1054 00:44:53,791 --> 00:44:55,959 TO HAVE A LONG TREATMENT 1055 00:44:56,026 --> 00:44:56,493 ODYSSEY. 1056 00:44:56,560 --> 00:44:59,296 SO TO TELL YOU ABOUT THE 1057 00:44:59,363 --> 00:45:00,330 DIVISION OF RARE DISEASE 1058 00:45:00,397 --> 00:45:01,365 RESEARCH INNOVATION IT'S 1059 00:45:01,432 --> 00:45:04,234 IMPORTANT TO KNOW, UNDERSTAND 1060 00:45:04,301 --> 00:45:06,837 THAT WE LIVE WITHIN NCATS THE 1061 00:45:06,904 --> 00:45:08,338 NATIONAL CENTER FOR ADVANCING 1062 00:45:08,405 --> 00:45:10,274 TRANSLATIONAL SCIENCES. 1063 00:45:10,340 --> 00:45:12,209 WE DON'T WORK ON THE SPECIFIC 1064 00:45:12,276 --> 00:45:14,578 ORGAN SYSTEM OR TYPE OF 1065 00:45:14,645 --> 00:45:14,912 CONDITION. 1066 00:45:14,978 --> 00:45:15,879 WE'RE DISEASE AGNOSTIC. 1067 00:45:15,946 --> 00:45:16,947 THIS IS OUR MISSION. 1068 00:45:17,014 --> 00:45:20,284 WE WANT TO TURN THOSE RESEARCH 1069 00:45:20,350 --> 00:45:22,453 OPTIONS, THE BASIC SCIENCE 1070 00:45:22,519 --> 00:45:24,221 DISCOVERIES INTO HEALTH 1071 00:45:24,288 --> 00:45:25,322 SOLUTIONS THROUGH TRANSLATIONAL 1072 00:45:25,389 --> 00:45:29,159 SCIENCE AND I LOVE THIS FIGURE 1073 00:45:29,226 --> 00:45:29,560 HERE. 1074 00:45:29,626 --> 00:45:32,329 WHAT'S AT THE CENTER? 1075 00:45:32,396 --> 00:45:33,030 PATIENTS. 1076 00:45:33,097 --> 00:45:35,065 PATIENTS ARE THE KEY TO FINDING 1077 00:45:35,132 --> 00:45:38,735 TREATMENTS FOR RARE DISEASES. 1078 00:45:38,802 --> 00:45:40,604 PATIENTS ARE CRITICAL TO THE 1079 00:45:40,671 --> 00:45:41,538 RESEARCH PROCESS BECAUSE IF WE 1080 00:45:41,605 --> 00:45:43,407 DON'T HAVE THE PATIENTS 1081 00:45:43,474 --> 00:45:47,244 INVOLVED, WE MAY NOT BE 1082 00:45:47,311 --> 00:45:49,546 RESEARCHING THE RIGHT THINGS OR 1083 00:45:49,613 --> 00:45:51,048 FINDING THE RIGHT TREATMENT AND 1084 00:45:51,115 --> 00:45:51,949 THEY MAY PROVIDE SO MUCH 1085 00:45:52,015 --> 00:45:53,283 TREATMENT AND GUIDANCE YOU CAN'T 1086 00:45:53,350 --> 00:45:53,784 OTHERWISE GET. 1087 00:45:53,851 --> 00:45:56,520 IT'S BEEN MENTIONED EARLIER. 1088 00:45:56,587 --> 00:45:58,789 I'LL SAY IT AGAIN. 1089 00:45:58,856 --> 00:46:01,725 RARE DISEASES HAVE A HOME IN 1090 00:46:01,792 --> 00:46:05,062 NCATS. 1091 00:46:05,129 --> 00:46:08,732 WE WORK TO CREATE EFFICIENCIES 1092 00:46:08,799 --> 00:46:15,873 IN THE SYSTEM AND WITH MORE THAN 1093 00:46:15,939 --> 00:46:17,574 7,000 DISEASES WE'LL NEVER GET 1094 00:46:17,641 --> 00:46:23,547 TO MOST IF WE GO ONE AT A TIME. 1095 00:46:23,614 --> 00:46:30,420 THIS IS AN OVERVIEW OF WHAT WE 1096 00:46:30,487 --> 00:46:32,289 DO AND I HOPE YOU VISIT OUR 1097 00:46:32,356 --> 00:46:34,258 TABLE TO LEARN MORE ABOUT OUR 1098 00:46:34,324 --> 00:46:35,459 RESOURCES AND PROGRAMS AND 1099 00:46:35,526 --> 00:46:36,793 WEBSITE TO SEE HOW CAN YOU 1100 00:46:36,860 --> 00:46:38,695 BENEFIT THE WORK WE DO AND HOW 1101 00:46:38,762 --> 00:46:41,231 CAN YOU HELP INFORM US ON WHAT 1102 00:46:41,298 --> 00:46:42,199 WORK NEEDS TO BE DONE. 1103 00:46:42,266 --> 00:46:42,900 YOU ARE PART OF THE SOLUTION AND 1104 00:46:42,966 --> 00:46:46,703 WE WANT TO HEAR FROM YOU. 1105 00:46:46,770 --> 00:46:49,006 I WANT TO MENTION WE HAVE TOOLS 1106 00:46:49,072 --> 00:46:52,276 AVAILABLE FOR PATIENTS, THEIR 1107 00:46:52,342 --> 00:46:54,011 ADVOCATES, REPRESENTATIVES WHO 1108 00:46:54,077 --> 00:46:56,046 NEED TO LEARN ABOUT THE PROCESS 1109 00:46:56,113 --> 00:46:58,048 AND LEARN WHAT TO DO NEXT AND 1110 00:46:58,115 --> 00:46:58,949 UNDERSTAND ABOUT THE DISEASE. 1111 00:46:59,016 --> 00:47:00,350 WE HAVE PROGRAMS FOR RESEARCHERS 1112 00:47:00,417 --> 00:47:01,885 LOOKING TO ADVANCE TREATMENTS 1113 00:47:01,952 --> 00:47:04,655 AND CURES. 1114 00:47:04,721 --> 00:47:05,989 WE HAVE PROGRAMS THAT BUILD 1115 00:47:06,056 --> 00:47:06,790 EFFICIENCIES IN THE SYSTEM SO WE 1116 00:47:06,857 --> 00:47:09,526 CAN GET TO THOSE TREATMENTS NOT 1117 00:47:09,593 --> 00:47:11,562 ONE DISEASE AT A TIME BUT BY 1118 00:47:11,628 --> 00:47:14,031 HELPING DERISK THE PROCESS SO 1119 00:47:14,097 --> 00:47:14,598 THE FUTURE TREATMENTS COME 1120 00:47:14,665 --> 00:47:18,702 FASTER. 1121 00:47:18,769 --> 00:47:20,904 WE ALSO CONVENE AND I'LL HAVE A 1122 00:47:20,971 --> 00:47:22,839 SLIDE LATER BAY WORKSHOP WE'LL 1123 00:47:22,906 --> 00:47:23,974 HOST WITH OUR COLLEAGUES AT THE 1124 00:47:24,041 --> 00:47:24,341 FDA. 1125 00:47:24,408 --> 00:47:26,343 IT'S IMPORTANT TO CONVENE ALL 1126 00:47:26,410 --> 00:47:27,611 THE STAKEHOLDERS WITH THE 1127 00:47:27,678 --> 00:47:29,846 PATIENTS BEING AN IMPORTANT PART 1128 00:47:29,913 --> 00:47:31,815 OF THAT. 1129 00:47:31,882 --> 00:47:33,584 THESE NEXT FEW SLIDES ARE THE 1130 00:47:33,650 --> 00:47:35,385 HIGHLIGHTS FROM OUR PROGRAMS. 1131 00:47:35,452 --> 00:47:41,558 THIS IS FROM THE BESPOKE GENE 1132 00:47:41,625 --> 00:47:51,835 THERAPY CONSORTIUM FOR BTC -- 1133 00:47:51,902 --> 00:47:53,370 BGTC AND THERE'S A PLAYBOOK 1134 00:47:53,437 --> 00:47:56,974 THAT'S BEEN RELEASED INTENDED TO 1135 00:47:57,040 --> 00:47:58,809 HELP STREAMLINE PRODUCT 1136 00:47:58,875 --> 00:47:59,109 NAVIGATION. 1137 00:47:59,176 --> 00:48:02,479 SO LET'S DERISK IT AND NOT ALL 1138 00:48:02,546 --> 00:48:03,981 MAKE THE SAME MISTAKES OVER AND 1139 00:48:04,047 --> 00:48:04,281 OVER. 1140 00:48:04,348 --> 00:48:08,318 THE BGTC MADE A COMMITMENT TO 1141 00:48:08,385 --> 00:48:10,287 PUBLISH THE LEARNINGS TO ANY 1142 00:48:10,354 --> 00:48:11,154 DEVELOPMENT PROGRAMS CAN LEARN 1143 00:48:11,221 --> 00:48:12,422 FROM THEIR SUCCESSES AND THEIR 1144 00:48:12,489 --> 00:48:14,358 MISTAKES AND NOT HAVE TO 1145 00:48:14,424 --> 00:48:17,928 REINVENT THE WHEEL. 1146 00:48:17,995 --> 00:48:22,399 THIS THROUGH OUR SOMATIC CELL 1147 00:48:22,466 --> 00:48:23,533 GENOME EDITING PROGRAM. 1148 00:48:23,600 --> 00:48:24,868 WE HAVE A TARGETED CHALLENGE. 1149 00:48:24,935 --> 00:48:26,703 IT'S A COOL PROGRAM. 1150 00:48:26,770 --> 00:48:30,140 THE GOAL IS TO DEVELOP BETTER 1151 00:48:30,207 --> 00:48:32,042 TARGETED DELIVERY SYSTEMS TO 1152 00:48:32,109 --> 00:48:34,645 DELIVER GENOME EDITORS TO 1153 00:48:34,711 --> 00:48:35,379 SOMATIC CELLS. 1154 00:48:35,445 --> 00:48:37,948 AND YOU CAN SCAN THE QR CODE. 1155 00:48:38,015 --> 00:48:39,783 THERE'S AN OPEN CHALLENGE THAT 1156 00:48:39,850 --> 00:48:41,718 WE INVITE RESEARCHERS TO APPLY 1157 00:48:41,785 --> 00:48:46,990 FOR. 1158 00:48:47,057 --> 00:48:48,091 NEXT THIS IS ABOUT BASKET TRIALS 1159 00:48:48,158 --> 00:48:48,892 FOR RARE DISEASES. 1160 00:48:48,959 --> 00:48:50,794 THIS IS SOMETHING WE LEARNED 1161 00:48:50,861 --> 00:48:52,696 FROM ONCOLOGY AND IT'S BEEN A 1162 00:48:52,763 --> 00:48:53,196 SUCCESSFUL MODEL. 1163 00:48:53,263 --> 00:48:55,432 YOU CAN HAVE ONE DRUG THAT MAY 1164 00:48:55,499 --> 00:48:57,067 BE BENEFICIAL FOR MORE THAN ONE 1165 00:48:57,134 --> 00:48:59,236 DISEASE WHICH MANY OF US KNOW 1166 00:48:59,303 --> 00:49:05,575 AND WE HAVE TWO FUNDED PROGRAMS 1167 00:49:05,642 --> 00:49:09,946 WHERE THEY HIT THEIR FIRST 1168 00:49:10,013 --> 00:49:12,616 MILESTONE AND GOT ONE DRUG WITH 1169 00:49:12,683 --> 00:49:13,383 MULTIPLE RARE DISEASES AND WITH 1170 00:49:13,450 --> 00:49:16,386 THE QR CODE YOU CAN FIND THE 1171 00:49:16,453 --> 00:49:17,788 FUNDING OPPORTUNITY FOR A SMALL 1172 00:49:17,854 --> 00:49:18,188 BUSINESS GRANT. 1173 00:49:18,255 --> 00:49:23,593 AND FINALLY I WANT TO CLOSE AS A 1174 00:49:23,660 --> 00:49:26,363 MENTIONED WE'RE HOSTING A 1175 00:49:26,430 --> 00:49:31,368 WORKSHOP WITH THE FDA ON NATURAL 1176 00:49:31,435 --> 00:49:37,074 HISTORY STUDIES AND RARE DISEASE 1177 00:49:37,140 --> 00:49:38,375 DEVELOPMENT AND HOPEFULLY THE QR 1178 00:49:38,442 --> 00:49:39,876 CODE WORKS IT LAUNCHED THIS 1179 00:49:39,943 --> 00:49:40,477 MORNING. 1180 00:49:40,544 --> 00:49:42,979 WE INVITE YOU TO BE THERE AND 1181 00:49:43,046 --> 00:49:44,448 LEARN ABOUT HOW NATURAL HISTORY 1182 00:49:44,514 --> 00:49:46,583 STUDIOS CAN HELP THE DRUG 1183 00:49:46,650 --> 00:49:47,017 DEVELOPMENT PROCESS. 1184 00:49:47,084 --> 00:49:51,855 SO WITH THAT, I WILL CLOSE OUT. 1185 00:49:51,922 --> 00:49:53,857 AGAIN, THANK YOU TO EVERYONE FOR 1186 00:49:53,924 --> 00:50:01,231 BEING HERE AND TO ALL OF NIH FOR 1187 00:50:01,298 --> 00:50:03,600 WHAT YOU DO TO SUPPORT THIS 1188 00:50:03,667 --> 00:50:03,934 WORK. 1189 00:50:04,000 --> 00:50:06,970 NEXT UP I'M GOING TO INTRODUCE 1190 00:50:07,037 --> 00:50:08,805 OUR FIRST SPEAKER. 1191 00:50:08,872 --> 00:50:12,976 THIS IS RARE STORY NUMBER ONE. 1192 00:50:13,043 --> 00:50:15,912 SHORTENING THE DIAGNOSTIC 1193 00:50:15,979 --> 00:50:16,580 ODYSSEY. 1194 00:50:16,646 --> 00:50:19,082 I INVIDE DR. SEEMA LALANI FROM 1195 00:50:19,149 --> 00:50:21,184 BAYLOR COLLEGE OF MEDICINE TO 1196 00:50:21,251 --> 00:50:21,885 PLEASE TAKE THE STAGE AND TELL 1197 00:50:21,952 --> 00:50:32,262 US ABOUT HER WORK. 1198 00:50:49,513 --> 00:50:51,248 >> IT'S A GREAT PLEASURE TO BE 1199 00:50:51,314 --> 00:50:53,884 HERE AND YOU WOULD LIKE THE 1200 00:50:53,950 --> 00:50:55,218 ORGANIZERS TO ALLOW ME TO TALK 1201 00:50:55,285 --> 00:50:56,386 ABOUT THE PROJECT. 1202 00:50:56,453 --> 00:50:58,688 I'LL TAKE YOU TO A UNIQUE REGION 1203 00:50:58,755 --> 00:51:03,193 IN TEXAS,RIO GRANDE VALLEY AND 1204 00:51:03,260 --> 00:51:07,764 THE PROJECT IS GENETIC GIVE BY 1205 00:51:07,831 --> 00:51:08,231 VIRTUAL EVALUATION. 1206 00:51:08,298 --> 00:51:10,767 I AM A CLINICAL GENETICISTS AT 1207 00:51:10,834 --> 00:51:12,369 THE BAYLOR COLLEGE OF MEDICINE 1208 00:51:12,436 --> 00:51:13,236 AND HAVE BEEN INVOLVED WITH THIS 1209 00:51:13,303 --> 00:51:21,545 PROJECT THE PAST TWO YEARS. 1210 00:51:21,611 --> 00:51:23,747 LET ME TAKE YOU TO THIS REGION 1211 00:51:23,814 --> 00:51:24,881 AT THE SOUTHERN MOST TIP OF 1212 00:51:24,948 --> 00:51:25,215 TEXAS. 1213 00:51:25,282 --> 00:51:29,886 YOU CAN SEE THERE IS A HIGH 1214 00:51:29,953 --> 00:51:30,587 ENRICHMENT OF HISPANIC 1215 00:51:30,654 --> 00:51:32,055 POPULATION IN THE REGION. 1216 00:51:32,122 --> 00:51:34,758 IT HAS A POPULATION OF ABOUT 1.3 1217 00:51:34,825 --> 00:51:37,160 MILLION RESIDENTS. 1218 00:51:37,227 --> 00:51:37,928 ONE-THIRD OF THE POPULATION 1219 00:51:37,994 --> 00:51:41,465 UNDER AGE 65 IS UNINSURED AND 1220 00:51:41,531 --> 00:51:44,401 THIS REGION WHICH IS AT THE 1221 00:51:44,468 --> 00:51:45,635 TEXAS-MEXICO BORDER, IS HOME TO 1222 00:51:45,702 --> 00:51:49,773 ONE OF THE POOREST CITIES IN THE 1223 00:51:49,840 --> 00:51:55,278 NATION WHICH INCLUDES MISSION 1224 00:51:55,345 --> 00:51:57,547 AND McCALHON AND ACCORDING TO 1225 00:51:57,614 --> 00:52:02,185 THE BIRTH DE FECTS REGISTRY IT'S 1226 00:52:02,252 --> 00:52:05,789 HIGHER THAN OTHER PARTS OF TEXAS 1227 00:52:05,856 --> 00:52:08,458 ESTIMATED TO BE OVER 400 PER 1228 00:52:08,525 --> 00:52:12,662 10,000 LIVE BIRTHS. 1229 00:52:12,729 --> 00:52:14,097 I WORK WITH CHILDREN WITH RARE 1230 00:52:14,164 --> 00:52:18,235 DISEASES. 1231 00:52:18,301 --> 00:52:19,736 FOR CHILDREN WITH RARE DISEASES 1232 00:52:19,803 --> 00:52:22,272 IN THIS REGION THERE'S TONS OF 1233 00:52:22,339 --> 00:52:24,574 BARRIERS TO RECEIVING GENOMIC 1234 00:52:24,641 --> 00:52:28,245 CARE AND DIAGNOSES. 1235 00:52:28,311 --> 00:52:32,415 FIRST THERE IS MINIMAL ACCESS TO 1236 00:52:32,482 --> 00:52:34,751 LOCAL GENETICISTS IN THE REGION. 1237 00:52:34,818 --> 00:52:37,821 THE FAMILIES TYPICALLY HAVE TO 1238 00:52:37,888 --> 00:52:40,590 TRAVEL A DISTANCE TO REACH A 1239 00:52:40,657 --> 00:52:40,891 GENETICIST. 1240 00:52:40,957 --> 00:52:43,126 HOUSTON IS FIVE HOURS FROM THE 1241 00:52:43,193 --> 00:52:44,094 REGION. 1242 00:52:44,160 --> 00:52:46,530 THERE'S LACK OF INSURANCE, 1243 00:52:46,596 --> 00:52:49,399 LANGUAGE BARRIER, SIGNIFICANT 1244 00:52:49,466 --> 00:52:51,801 FRACTION OF THE FAMILIES JUST 1245 00:52:51,868 --> 00:52:53,169 SPEAK SPANISH AND NOT JUST THAT, 1246 00:52:53,236 --> 00:52:57,574 THERE'S LIMITED PRIMARY CARE 1247 00:52:57,641 --> 00:53:03,079 PHYSICIANS IN THIS REGION AND 1248 00:53:03,146 --> 00:53:09,085 THE FAMILIARITY OF THESE WITH 1249 00:53:09,152 --> 00:53:13,557 GENOMIC DISORDERS HAMPERS ACCESS 1250 00:53:13,623 --> 00:53:23,900 TO GENOMIC CARE. 1251 00:53:31,308 --> 00:53:33,443 STUDIES AMONG THOSE GROUPS SHOW 1252 00:53:33,510 --> 00:53:34,678 HISPANICS ARE LEAST LIKELY TO 1253 00:53:34,744 --> 00:53:36,613 GAIN GENETIC TESTING. 1254 00:53:36,680 --> 00:53:38,782 PEOPLE ARE WARM AND FRIENDLY AND 1255 00:53:38,848 --> 00:53:41,251 THIS REGION IS RICH IN CULTURE 1256 00:53:41,318 --> 00:53:48,358 AND TRADITIONS AND YES, YOU SEE 1257 00:53:48,425 --> 00:53:50,393 THE URBANIZATION AND STRUCTURE 1258 00:53:50,460 --> 00:53:51,861 BUT THERE'S ALSO AREAS OF RURAL 1259 00:53:51,928 --> 00:53:54,698 COMMUNITIES LIKE THE FAR RIGHT. 1260 00:53:54,764 --> 00:53:58,568 THESE ARE CALLED CLONIAS WHICH 1261 00:53:58,635 --> 00:54:01,571 HAVE HORRIBLE WATER, ELECTRICITY 1262 00:54:01,638 --> 00:54:08,878 AND SANITATION. 1263 00:54:08,945 --> 00:54:11,147 THE COST IS OUT OF REACH FOR 1264 00:54:11,214 --> 00:54:12,115 MANY FAMILIES. 1265 00:54:12,182 --> 00:54:15,785 REDUCING HEALTH DISPARITIES AND 1266 00:54:15,852 --> 00:54:18,254 ACCESS TO CARE SAY PRIORITY FOR 1267 00:54:18,321 --> 00:54:18,555 US. 1268 00:54:18,622 --> 00:54:20,357 BECAUSE THESE ARE CHILDREN WHO 1269 00:54:20,423 --> 00:54:22,125 MAY ENDURE YEARS OF HEALTH 1270 00:54:22,192 --> 00:54:29,599 DECLINE WITH NO PROSPECT OF 1271 00:54:29,666 --> 00:54:32,469 PREVEN 1272 00:54:32,535 --> 00:54:35,872 PREVENTING MORBIDITIES AND 1273 00:54:35,939 --> 00:54:36,706 CHRONIC DISEASE AND THE 1274 00:54:36,773 --> 00:54:38,441 TREATMENT WOULD BE AVAILABLE IN 1275 00:54:38,508 --> 00:54:41,544 OTHER PARTS OF THE COUNTRY 1276 00:54:41,611 --> 00:54:42,646 EITHER MEDICATION OR DIETARY 1277 00:54:42,712 --> 00:54:44,447 MODIFICATION OR TARGETED 1278 00:54:44,514 --> 00:54:45,548 THERAPIES SUCH AS ENZYME 1279 00:54:45,615 --> 00:54:49,552 REPLACEMENT. 1280 00:54:49,619 --> 00:54:51,788 THESE CHILDREN MAY NEVER HAVE 1281 00:54:51,855 --> 00:54:53,189 ACCESS TO CLINICAL TRIALS 1282 00:54:53,256 --> 00:54:54,090 WITHOUT A DIAGNOSIS. 1283 00:54:54,157 --> 00:54:55,925 MORE IMPORTANTLY, THESE ARE 1284 00:54:55,992 --> 00:54:58,595 PARENTS WHO HAVE NO IDEA ABOUT 1285 00:54:58,662 --> 00:55:00,163 THE INHERENT GENETIC RISK 1286 00:55:00,230 --> 00:55:02,332 FACTORS THEY CARRY AND THEY MAY 1287 00:55:02,399 --> 00:55:05,135 GO ON TO HAVE REOCCURRENCE OF 1288 00:55:05,201 --> 00:55:05,702 SOMETIMES VERY DEVASTATING 1289 00:55:05,769 --> 00:55:10,640 DISEASES. 1290 00:55:10,707 --> 00:55:13,543 SO WE WERE FORTUNATE TO BE FUND 1291 00:55:13,610 --> 00:55:18,081 NCATS IN EARLY 2022 AND CALLED 1292 00:55:18,148 --> 00:55:19,082 THE PROJECT, GIVE. 1293 00:55:19,149 --> 00:55:25,155 IT WAS A COLLABORATION BETWEEN 1294 00:55:25,221 --> 00:55:27,323 BAYLOR COLLEGE OF MEDICINE AND 1295 00:55:27,390 --> 00:55:32,495 COLLEGE OF RIO GRANDE VALLEY. 1296 00:55:32,562 --> 00:55:36,466 WE FINISHED RECENTLY AND TODAY 1297 00:55:36,533 --> 00:55:37,567 I'LL TALK ABOUT THE PROJECT AND 1298 00:55:37,634 --> 00:55:38,635 WHAT WE HAVE ACHIEVED. 1299 00:55:38,702 --> 00:55:41,705 THESE ARE THE MAIN AIMS TO BEGIN 1300 00:55:41,771 --> 00:55:42,205 WITH. 1301 00:55:42,272 --> 00:55:43,039 REDUCE TIME TO DIAGNOSIS AND FOR 1302 00:55:43,106 --> 00:55:47,377 THAT WE WANTED TO USE A 1303 00:55:47,444 --> 00:55:48,111 MACHINE-ASSISTED VIRTUAL 1304 00:55:48,178 --> 00:55:49,112 PLATFORM TO DELIVER STATE OF THE 1305 00:55:49,179 --> 00:55:50,947 ART GENETIC EVALUATION IN THE 1306 00:55:51,014 --> 00:55:53,383 MEDICALLY UNDER SERVED 1307 00:55:53,450 --> 00:55:53,683 POPULATION. 1308 00:55:53,750 --> 00:55:55,652 WE ALSO DECIDED THAT WE WANTED 1309 00:55:55,719 --> 00:55:57,587 TO DO A WHOLE GENOME SEQUENCING 1310 00:55:57,654 --> 00:55:59,923 AS THE FIRST LINE TEST FOR THESE 1311 00:55:59,989 --> 00:56:00,790 FAMILIES. 1312 00:56:00,857 --> 00:56:03,359 AND WE TARGETED AND SAID WE 1313 00:56:03,426 --> 00:56:06,830 WOULD BE ABLE TO ENROLL 100 1314 00:56:06,896 --> 00:56:08,131 CHILDREN DURING THIS TWO-YEAR 1315 00:56:08,198 --> 00:56:08,364 PERIOD. 1316 00:56:08,431 --> 00:56:13,536 AT THE SAME TIME WE KNEW WE HAD 1317 00:56:13,603 --> 00:56:19,342 TO CONCENTRATE ON EDUCATION IS 1318 00:56:19,409 --> 00:56:23,813 AND INCREASE GENOMIC COMPETENCY 1319 00:56:23,880 --> 00:56:26,116 OF THE FRONT LINE PROVIDERS AND 1320 00:56:26,182 --> 00:56:28,618 THESE CHILDREN NEEDED TO BE 1321 00:56:28,685 --> 00:56:29,886 REFERRED AS SOON AS POSSIBLE 1322 00:56:29,953 --> 00:56:31,654 SUSPECT WITH RARE DISEASES. 1323 00:56:31,721 --> 00:56:32,655 THERE WERE SEVERAL CHALLENGE. 1324 00:56:32,722 --> 00:56:36,292 HOW DO WE SIMPLIFY THE PATIENT 1325 00:56:36,359 --> 00:56:37,560 PATHWAY WHERE THEY MAY NOT HAVE 1326 00:56:37,627 --> 00:56:39,896 ACCESS TO LOCAL GENETICISTS. 1327 00:56:39,963 --> 00:56:44,300 HOW DO WE REDUCE THE TIME TO 1328 00:56:44,367 --> 00:56:46,102 DIAGNOSIS AND INCREASE ACCESS TO 1329 00:56:46,169 --> 00:56:49,539 CARE AND HOW DO WE INCREASE THE 1330 00:56:49,606 --> 00:56:52,008 GENOMIC COMPETENCY OF THE FRONT 1331 00:56:52,075 --> 00:56:53,543 LINE HEALTH CARE PROVIDERS IN 1332 00:56:53,610 --> 00:56:59,783 THE REGION TO REDUCE THE 1333 00:56:59,849 --> 00:57:01,084 DIAGNOSTIC ODYSSEY. 1334 00:57:01,151 --> 00:57:02,519 THERE'S A WEB BASED PLATFORM 1335 00:57:02,585 --> 00:57:04,721 DESIGN BY BAYLOR COLLEGE OF 1336 00:57:04,788 --> 00:57:05,855 MEDICINE PRIOR TO THE COVID 1337 00:57:05,922 --> 00:57:06,890 PANDEMIC. 1338 00:57:06,956 --> 00:57:09,626 THE MAIN PURPOSE FOR THIS 1339 00:57:09,692 --> 00:57:11,227 PLATFORM WAS TO PROVIDE 1340 00:57:11,294 --> 00:57:14,297 EDUCATIONAL RESOURCES AND 1341 00:57:14,364 --> 00:57:16,199 SERVICES SUCH AS GENTIC 1342 00:57:16,266 --> 00:57:17,500 COUNSELING AND PEER-TO-PEER 1343 00:57:17,567 --> 00:57:19,569 CONSULTATIONS. 1344 00:57:19,636 --> 00:57:24,808 WE DECIDED TO USE CULT AGENE FOR 1345 00:57:24,874 --> 00:57:26,609 THIS PURPOSE WHAT WE DECIDED TO 1346 00:57:26,676 --> 00:57:29,579 DO EARLY WAS TO EXPAND THE 1347 00:57:29,646 --> 00:57:32,182 REFERRAL BASE SO IT WASN'T JUST 1348 00:57:32,248 --> 00:57:37,854 A PHYSICIAN FOR A NURSE 1349 00:57:37,921 --> 00:57:38,922 PRACTITIONER TO REFER AND WANTED 1350 00:57:38,988 --> 00:57:42,425 THEM TO GO TO PHYSICAL AND 1351 00:57:42,492 --> 00:57:44,694 OCCUPATIONAL THERAPISTS IN THE 1352 00:57:44,761 --> 00:57:46,963 REGION ESPECIALLY THOSE SEEING 1353 00:57:47,030 --> 00:57:48,398 THE PATIENTS 0 TO 3 TO EXPEDITE 1354 00:57:48,464 --> 00:57:57,106 THE REFERRAL PROCESS. 1355 00:57:57,173 --> 00:58:00,543 THIS IS WWW.CONSULTAGENE.org AND 1356 00:58:00,610 --> 00:58:02,879 YOU CAN REQUEST A PEER-TO-PEER 1357 00:58:02,946 --> 00:58:03,213 CONSULTATION. 1358 00:58:03,279 --> 00:58:05,582 THEY'RE ENCOURAGED TO CREATE AN 1359 00:58:05,648 --> 00:58:06,482 ACCOUNT. 1360 00:58:06,549 --> 00:58:09,118 AND ONCE THEIR ACCOUNT IS SET UP 1361 00:58:09,185 --> 00:58:12,922 THEN WE ASK THEM TO UPLOAD SOME 1362 00:58:12,989 --> 00:58:13,590 DEMOGRAPHIC INFORMATION ABOUT 1363 00:58:13,656 --> 00:58:14,524 THE PATIENTS THEY WOULD LIKE TO 1364 00:58:14,591 --> 00:58:16,759 REFER. 1365 00:58:16,826 --> 00:58:19,429 WE ALSO ASK THEY SEND US AT 1366 00:58:19,495 --> 00:58:22,031 LEAST ONE CLINIC NOTE THAT HELPS 1367 00:58:22,098 --> 00:58:25,735 US UNDERSTAND THE MAIN PROBLEMS 1368 00:58:25,802 --> 00:58:29,272 FOR THE CHILD. 1369 00:58:29,339 --> 00:58:33,076 OUR STUDY SITE IS PART OF THE 1370 00:58:33,142 --> 00:58:36,479 UNIVERSITY OF TEXASRIO GRANDE 1371 00:58:36,546 --> 00:58:38,514 VALLEY A SPECIALTY CLINIC IN 1372 00:58:38,581 --> 00:58:40,216 TEXAS ABOUT 20 MILES FROM THE 1373 00:58:40,283 --> 00:58:40,750 MEXICO BORDER. 1374 00:58:40,817 --> 00:58:43,887 WE DID THIS WORK UNDER THE 1375 00:58:43,953 --> 00:58:45,288 LEADERSHIP DR. ROBERT NELSON WHO 1376 00:58:45,355 --> 00:58:46,489 WAS THE CHAIR OF PEDIATRICS 1377 00:58:46,556 --> 00:58:52,428 DEPARTMENT AT THAT TIME. 1378 00:58:52,495 --> 00:58:59,969 OUR MODEL WAS TO WORK CLOSELY 1379 00:59:00,036 --> 00:59:04,040 WITH THE CLINICIANS IN THE AREA 1380 00:59:04,107 --> 00:59:04,307 TO REFER. 1381 00:59:04,374 --> 00:59:05,541 IT'S A YOUNG INSTITUTION AND THE 1382 00:59:05,608 --> 00:59:08,511 SCHOOL OF MEDICINE WAS FOUNDED 1383 00:59:08,578 --> 00:59:09,078 IN 2015. 1384 00:59:09,145 --> 00:59:12,181 WE DECIDED THAT THIS WOULD BE A 1385 00:59:12,248 --> 00:59:16,486 GREAT PARTNER FOR THIS WORK. 1386 00:59:16,552 --> 00:59:18,154 AS SOON AS WE STARTED WE KNEW WE 1387 00:59:18,221 --> 00:59:20,523 HAD TO MAKE A LIST OF 1388 00:59:20,590 --> 00:59:25,561 INDICATIONS FOR OUR REFERRERS TO 1389 00:59:25,628 --> 00:59:28,464 CONSIDER POSSIBLE GENETIC 1390 00:59:28,531 --> 00:59:31,968 DIAGNOSIS AND MADE THIS FOR THEM 1391 00:59:32,035 --> 00:59:34,270 AND CONCENTRATED ON THE 1392 00:59:34,337 --> 00:59:35,471 DEVELOPMENT PART AND THERE'S 1393 00:59:35,538 --> 00:59:38,508 OTHER INDICATIONS ON THE SLIDE 1394 00:59:38,574 --> 00:59:40,376 WE MADE SURE REFERRERS KNEW WHEN 1395 00:59:40,443 --> 00:59:47,150 TO REFER. 1396 00:59:47,216 --> 00:59:51,554 WE DECIDED UTRG WOULD BE OUR 1397 00:59:51,621 --> 00:59:53,489 MAIN BASE FOR SENDING THESE 1398 00:59:53,556 --> 00:59:55,992 PATIENTS OUR WAY BUT WE HAD TO 1399 00:59:56,059 --> 01:00:01,030 REACH OUT TO COMMUNITY 1400 01:00:01,097 --> 01:00:10,440 COLLABORATORS AND THE FIRST WAS 1401 01:00:10,506 --> 01:00:18,181 EASTER SEALS AND THEY WERE 1402 01:00:18,247 --> 01:00:21,150 SEEING CHILDREN 0 TO 3 AND WE 1403 01:00:21,217 --> 01:00:22,885 PARTNERED WITH THEM AND ANOTHER 1404 01:00:22,952 --> 01:00:25,555 SYSTEM CALLED DHR HEALTH AND 1405 01:00:25,621 --> 01:00:27,724 COLLABORATED WITH THE 1406 01:00:27,790 --> 01:00:30,827 ENDOCRINOLOGISTS TO SEND US 1407 01:00:30,893 --> 01:00:32,628 PATIENTS WITH SYNDROMES AND 1408 01:00:32,695 --> 01:00:37,200 SHORT STATURE AND WE 1409 01:00:37,266 --> 01:00:38,301 CONCENTRATED ON THE THERAPISTS 1410 01:00:38,368 --> 01:00:39,535 GIVING SERVICES TO CHILDREN WITH 1411 01:00:39,602 --> 01:00:44,173 COMPLEX DISEASES. 1412 01:00:44,240 --> 01:00:45,141 AND COMMUNITY PEDIATRICIANS. 1413 01:00:45,208 --> 01:00:47,810 FOOD IS AN IMPORTANT PART OF 1414 01:00:47,877 --> 01:00:50,146 HISPANIC CULTURE AND WE WANTED 1415 01:00:50,213 --> 01:00:51,547 TO BUILD RELATIONSHIPS BY 1416 01:00:51,614 --> 01:00:54,317 SHARING MEALS WITH THEM AND THAT 1417 01:00:54,384 --> 01:00:56,252 WAS A GREAT WAY TO KNOW THEM 1418 01:00:56,319 --> 01:00:57,754 WELL AND FOR THEM TO KNOW US 1419 01:00:57,820 --> 01:01:02,692 WELL. 1420 01:01:02,759 --> 01:01:05,228 WE ALSO LEVERAGED THIS GREAT 1421 01:01:05,294 --> 01:01:05,561 FACILITY. 1422 01:01:05,628 --> 01:01:07,096 IT'S A PUBLIC LIBRARY. 1423 01:01:07,163 --> 01:01:12,235 IT HAS A GREAT AUDITORIUM AND WE 1424 01:01:12,301 --> 01:01:15,071 DESIGN TWO CME CONFERENCES FOR 1425 01:01:15,138 --> 01:01:16,339 PHYSICIANS AND OTHER HEALTH CARE 1426 01:01:16,406 --> 01:01:17,573 PROVIDERS IN THE REGION TO TALK 1427 01:01:17,640 --> 01:01:21,477 ABOUT GENETICS AND GENETIC 1428 01:01:21,544 --> 01:01:21,744 DIAGNOSES. 1429 01:01:21,811 --> 01:01:24,414 SO IN THE LAST TWO YEARS WE 1430 01:01:24,480 --> 01:01:25,548 RECRUITED PATIENTS FROM ALL 1431 01:01:25,615 --> 01:01:29,585 THESE PLACES I JUST MENTIONED 1432 01:01:29,652 --> 01:01:31,721 PLUS WE ALSO USED TEXAS BIRTH 1433 01:01:31,788 --> 01:01:34,390 DEFECTS REGISTRY ONE OF THE 1434 01:01:34,457 --> 01:01:36,759 WORLD'S LARGEST POPULATION-BASED 1435 01:01:36,826 --> 01:01:37,560 SURVEILLANCE SYSTEM TO FIND 1436 01:01:37,627 --> 01:01:40,329 PATIENTS IN THE REGION. 1437 01:01:40,396 --> 01:01:44,300 THIS IS OUR TEAM, THE TOP LINE 1438 01:01:44,367 --> 01:01:45,535 ARE THE PEDIATRICIAN WE 1439 01:01:45,601 --> 01:01:48,371 PARTNERED WITH AT UTRG AND BELOW 1440 01:01:48,438 --> 01:01:50,907 IS OUR TEAM AT BAYLOR COLLEGE OF 1441 01:01:50,973 --> 01:01:51,274 MEDICINE. 1442 01:01:51,340 --> 01:01:53,009 THIS WORK WOULD NOT HAVE BEEN 1443 01:01:53,076 --> 01:01:55,378 POSSIBLE WITHOUT A GENETIC 1444 01:01:55,445 --> 01:01:59,015 NAVIGATOR ON SITE AND SHE'S 1445 01:01:59,082 --> 01:02:00,149 BILINGUAL AND IS A SOCIAL WORKER 1446 01:02:00,216 --> 01:02:03,686 AND KNOWS THE FAMILIES REALLY 1447 01:02:03,753 --> 01:02:05,555 WELL. 1448 01:02:05,621 --> 01:02:08,524 WE ESTABLISHED A CONSULT AGENE 1449 01:02:08,591 --> 01:02:11,027 KIOSK TO SEE THE FAMILIES AT THE 1450 01:02:11,094 --> 01:02:11,227 SITE. 1451 01:02:11,294 --> 01:02:16,399 THIS IS ONE EXAMPLE HOW WE SEE 1452 01:02:16,466 --> 01:02:19,469 THE PATIENTS. 1453 01:02:19,535 --> 01:02:22,638 WE LOOK ON TO ZOOM AND OUR 1454 01:02:22,705 --> 01:02:24,140 GENETIC NAVIGATOR BRINGS 1455 01:02:24,207 --> 01:02:27,844 FAMILIES ON SITE AND SEE VIDEOS 1456 01:02:27,910 --> 01:02:28,978 THROUGH CONSULTA GENE, WHAT TO 1457 01:02:29,045 --> 01:02:31,180 EXPECT AT THE GENETICS 1458 01:02:31,247 --> 01:02:33,249 APPOINTMENT AND THEY COMPLETE A 1459 01:02:33,316 --> 01:02:34,817 SURVEY AND WE COMPLETE OUR 1460 01:02:34,884 --> 01:02:35,651 REMOTE EVALUATION. 1461 01:02:35,718 --> 01:02:39,388 ONCE THAT IS COMPLETED, SAMPLES 1462 01:02:39,455 --> 01:02:41,090 ARE COLLECTED AT THE STUDY SITE 1463 01:02:41,157 --> 01:02:44,627 AND SENT TO BAYLOR GENETICS IN 1464 01:02:44,694 --> 01:02:51,033 HOUSTON FOR WHOLE GENOME 1465 01:02:51,100 --> 01:02:51,334 SEQUENCING. 1466 01:02:51,400 --> 01:02:53,069 ONCE THAT'S DONE WE MEET WITH 1467 01:02:53,136 --> 01:02:56,005 THE FAMILY AND PROVIDE A 1468 01:02:56,072 --> 01:02:58,741 COMPREHENSIVE COUNSELING AND 1469 01:02:58,808 --> 01:02:59,609 GUIDELINE IF THEY HAVE A 1470 01:02:59,675 --> 01:03:00,810 DIAGNOSIS AND FOLLOW THE 1471 01:03:00,877 --> 01:03:02,578 PATIENTS LONGITUDINALLY FOR A 1472 01:03:02,645 --> 01:03:02,879 YEAR. 1473 01:03:02,945 --> 01:03:04,547 AT DIFFERENT TIME POINTS WE USED 1474 01:03:04,614 --> 01:03:11,954 THESE ARE SURVEYS TO COLLECT 1475 01:03:12,021 --> 01:03:12,155 DATA. 1476 01:03:12,221 --> 01:03:14,290 AND WITH THE TARGET ENROLLMENT 1477 01:03:14,357 --> 01:03:18,628 OF 100 PATIENTS WE HAD OVER 200 1478 01:03:18,694 --> 01:03:19,762 PATIENTS REFERRED TO US THROUGH 1479 01:03:19,829 --> 01:03:20,363 CONSULT A GONE. 1480 01:03:20,429 --> 01:03:23,199 THIS WAS AMAZING AND WOULD NOT 1481 01:03:23,266 --> 01:03:25,201 HAVE BEEN POSSIBLE IF WE HAD NOT 1482 01:03:25,268 --> 01:03:27,637 EXPANDED OUR REFERRAL BASE. 1483 01:03:27,703 --> 01:03:29,205 WE WERE ABLE TO ACCEPT 80% OF 1484 01:03:29,272 --> 01:03:32,175 THE PATIENTS REFERRED TO US, 109 1485 01:03:32,241 --> 01:03:34,010 PATIENTS HAVE BEEN ENROLLED TO 1486 01:03:34,076 --> 01:03:35,978 DATE AND 61 FAMILIES HAVE 1487 01:03:36,045 --> 01:03:37,613 RECEIVED THEIR WHOLE GENOME 1488 01:03:37,680 --> 01:03:45,254 SEQUENCING RESULTS. 1489 01:03:45,321 --> 01:03:47,290 SO FAR WE HAVE RESOLVED 1490 01:03:47,356 --> 01:03:49,559 DIAGNOSES FOR 17 FAMILIES AND 1491 01:03:49,625 --> 01:03:50,359 PARTIALLY RESOLVED DIAGNOSIS FOR 1492 01:03:50,426 --> 01:03:56,199 TWO FAMILIES WITH OVER ALL 1493 01:03:56,265 --> 01:03:59,735 DIAGNOSTIC RATE OF ABOUT 71%. 1494 01:03:59,802 --> 01:04:03,339 WE HAD ONE CHILD WHO DEVELOPED 1495 01:04:03,406 --> 01:04:04,974 MENTAL DELAY WITH A SYNDROME 1496 01:04:05,041 --> 01:04:07,343 THAT CAN CAUSE SIGNIFICANT 1497 01:04:07,410 --> 01:04:07,677 ARRHYTHMIA. 1498 01:04:07,743 --> 01:04:08,644 LOOKING AT THE DEMOGRAPHICS OF 1499 01:04:08,711 --> 01:04:11,414 THESE FAMILIES, YOU CAN SEE 98% 1500 01:04:11,480 --> 01:04:14,283 OF OUR FAMILIES WERE HISPANIC 1501 01:04:14,350 --> 01:04:14,450 AND. 1502 01:04:14,517 --> 01:04:17,553 ABOUT 30% TO 40% HAD SPANISH AS 1503 01:04:17,620 --> 01:04:26,662 THEIR PRIMARY LANGUAGE. 1504 01:04:26,729 --> 01:04:29,498 YOU CAN SEE MOST OUR FAMILIES GO 1505 01:04:29,565 --> 01:04:31,200 TO LOWER SOCIAL ECONOMIC GROUP 1506 01:04:31,267 --> 01:04:32,568 AND SHOWS THE HIGHEST EDUCATION 1507 01:04:32,635 --> 01:04:35,404 LEVEL OF OUR FAMILIES. 1508 01:04:35,471 --> 01:04:37,506 THESE ARE SOME OF THE GENETIC 1509 01:04:37,573 --> 01:04:40,977 DISORDERS WE ASCERTAINED AND THE 1510 01:04:41,043 --> 01:04:44,113 SECOND CHILD WAS DIAGNOSED WITH 1511 01:04:44,180 --> 01:04:50,353 VITAMIN D DEPENDENT RICKETS AND 1512 01:04:50,419 --> 01:04:53,089 MAKING PROGRESS IN HIS 1513 01:04:53,155 --> 01:04:53,389 DEVELOPMENT. 1514 01:04:53,456 --> 01:04:54,357 THESE ARE OTHER DISORDERS. 1515 01:04:54,423 --> 01:05:00,162 YOU CAN TELL MANY OF THESE ARE 1516 01:05:00,229 --> 01:05:01,197 IN THE NEURODEVELOPMENT 1517 01:05:01,264 --> 01:05:04,734 CATEGORY, BRAIN MALFORMATION 1518 01:05:04,800 --> 01:05:05,434 DEVELOPMENTAL DELAY. 1519 01:05:05,501 --> 01:05:09,305 WE HAD ONE PATIENT ON THE FAR 1520 01:05:09,372 --> 01:05:16,579 LEFT WITH DUAL GENETIC DIAGNOSES 1521 01:05:16,646 --> 01:05:18,247 AND COLLECTING THE SURVEYS WE 1522 01:05:18,314 --> 01:05:19,949 WANTED TO ASSESS HOW THE 1523 01:05:20,016 --> 01:05:21,917 FAMILIES WERE LOOKING AT PROJECT 1524 01:05:21,984 --> 01:05:25,554 GIVE AND THE PRESENCE OF 1525 01:05:25,621 --> 01:05:29,492 RESEARCHERS IN THAT REGION. 1526 01:05:29,558 --> 01:05:32,461 AND YOU CAN SEE MOST FAMILIES 1527 01:05:32,528 --> 01:05:35,298 APPRECIATED THESE GENETIC TEST 1528 01:05:35,364 --> 01:05:35,531 RESULTS. 1529 01:05:35,598 --> 01:05:37,566 AND ALSO IT WAS GRATIFYING TO 1530 01:05:37,633 --> 01:05:40,469 SEE THEY WERE ALSO ABLE TO 1531 01:05:40,536 --> 01:05:43,272 UNDERSTAND THESE GENETIC RESULTS 1532 01:05:43,339 --> 01:05:45,541 WHEN WE WENT BACK TO VISIT. 1533 01:05:45,608 --> 01:05:47,810 MORE IMPORTANTLY, THEY FELT 1534 01:05:47,877 --> 01:05:49,145 THEIR DOCTORS COULD USE THE 1535 01:05:49,211 --> 01:05:51,514 RESULT TO IMPROVE THEIR 1536 01:05:51,580 --> 01:05:51,947 CHILDREN'S HEALTH. 1537 01:05:52,014 --> 01:05:53,816 I THINK THIS WAS VERY IMPORTANT. 1538 01:05:53,883 --> 01:06:04,327 AND ALL ACROSS THE BOARD THEY 1539 01:06:04,393 --> 01:06:04,760 FELT HOPE. 1540 01:06:04,827 --> 01:06:06,429 AND THESE ARE THE RESULTS. 1541 01:06:06,495 --> 01:06:09,065 WE HAVE STARTED TREATMENT AND 1542 01:06:09,131 --> 01:06:10,566 CREATED A HEALTH PLAN. 1543 01:06:10,633 --> 01:06:14,003 IT'S BEEN VERY GRATIFYING TO GET 1544 01:06:14,070 --> 01:06:19,675 THESE CARDS FROM PARENTS AND THE 1545 01:06:19,742 --> 01:06:22,011 SAME THEME AND THERE'S YEARS IN 1546 01:06:22,078 --> 01:06:26,615 TRYING TO FIND APE ANSWER. 1547 01:06:26,682 --> 01:06:31,821 -- AN ANSWER AND I THINK HAVING 1548 01:06:31,887 --> 01:06:33,823 THE WEB BASED TOOL CONSULTING 1549 01:06:33,889 --> 01:06:36,892 GENE THAT OPENED UP THE REFERRAL 1550 01:06:36,959 --> 01:06:40,129 PROCESS WAS CRUCIAL AND HAVING A 1551 01:06:40,196 --> 01:06:41,430 BILINGUAL NAVIGATOR ON SITE WAS 1552 01:06:41,497 --> 01:06:42,431 IMPORTANT AND BUILD STRONG 1553 01:06:42,498 --> 01:06:43,999 RELATIONSHIP WITH THE COMMUNITY 1554 01:06:44,066 --> 01:06:45,534 PARTNERS AND SHOWING UP IS 1555 01:06:45,601 --> 01:06:46,769 IMPORTANT. 1556 01:06:46,836 --> 01:06:49,438 WE MADE MULTIPLE AND IN PERSON 1557 01:06:49,505 --> 01:06:49,839 SITE VISITS. 1558 01:06:49,905 --> 01:06:52,942 WE PROMOTED THE STUDY ANY CHANCE 1559 01:06:53,008 --> 01:06:56,612 WE GOT, PEDIATRIC GRAND ROUND 1560 01:06:56,679 --> 01:06:58,013 WHETHER FACULTY MEETING OR 1561 01:06:58,080 --> 01:07:01,484 TEACHING SESSION WITH ECI AND 1562 01:07:01,550 --> 01:07:02,518 TREATING PARTNERS WELL. 1563 01:07:02,585 --> 01:07:03,786 THEY'VE BEEN DOING GREAT WORK 1564 01:07:03,853 --> 01:07:05,154 FOR A LONG TIME SO JUST 1565 01:07:05,221 --> 01:07:07,490 APPRECIATING THE WORK THEY'RE 1566 01:07:07,556 --> 01:07:09,458 DOING, RESPECTING THEIR WORK 1567 01:07:09,525 --> 01:07:11,293 JUST BEING HUMBLE AS YOU ENTER 1568 01:07:11,360 --> 01:07:12,528 THIS COMMUNITY. 1569 01:07:12,595 --> 01:07:13,429 IT WORKS BOTH WAYS. 1570 01:07:13,496 --> 01:07:17,533 IT HAS TO BENEFIT THE FAMILIES. 1571 01:07:17,600 --> 01:07:19,535 EVERY TIME WE HAD AN ENCOUNTER 1572 01:07:19,602 --> 01:07:23,806 WEDGE OUR FAMILIES WE MADE SURE 1573 01:07:23,873 --> 01:07:27,076 THERE WERE NOTES THAT COULD GO 1574 01:07:27,143 --> 01:07:28,778 BACK TO REFERRING PHYSICIANS. 1575 01:07:28,844 --> 01:07:30,913 THE CHALLENGES WERE MANY TIMES 1576 01:07:30,980 --> 01:07:32,681 WE DON'T HAVE A COMPLETE 1577 01:07:32,748 --> 01:07:36,886 CLINICAL INFORMATION AS WE 1578 01:07:36,952 --> 01:07:37,853 ACCEPT THESE PATIENTS. 1579 01:07:37,920 --> 01:07:41,624 BUT AS WE SAW WE ACCEPTED 80% OF 1580 01:07:41,690 --> 01:07:44,593 THESE PATIENTS. 1581 01:07:44,660 --> 01:07:48,564 IN SUMMARY THEY'VE ALLOWED A 1582 01:07:48,631 --> 01:07:53,569 PLATFORM FOR GENTETIC -- 1583 01:07:53,636 --> 01:07:57,573 GENETIC ASSESSMENT AND WHOLE 1584 01:07:57,640 --> 01:08:00,643 GENOME ASSESSMENT AND I BELIEVE 1585 01:08:00,709 --> 01:08:02,578 THESE EFFORTS CAN BE REPLICATED 1586 01:08:02,645 --> 01:08:04,980 UP OTHER MEDICALLY UNDER SERVED 1587 01:08:05,047 --> 01:08:05,214 REGIONS. 1588 01:08:05,281 --> 01:08:06,816 I HAVE A LOT OF PEOPLE TO THANK 1589 01:08:06,882 --> 01:08:08,984 AND AGAIN THANK YOU FOR HAVING 1590 01:08:09,051 --> 01:08:19,195 ME HERE. 1591 01:08:44,019 --> 01:08:47,056 >> HI, I'M SUSIE SCHELLER AND 1592 01:08:47,122 --> 01:08:49,458 WORK WITH MITOACTION SO OUR 1593 01:08:49,525 --> 01:08:51,126 PATIENTS DEPEND ON GENETIC 1594 01:08:51,193 --> 01:08:55,831 TESTING TO CONFIRM MANY NOT ALL 1595 01:08:55,898 --> 01:08:57,399 THE DIAGNOSES. 1596 01:08:57,466 --> 01:09:01,570 I'M WORKING HARD. 1597 01:09:01,637 --> 01:09:02,071 [SPEAKING SPANISH] 1598 01:09:02,137 --> 01:09:05,975 I'M WORKING HARD TO LEARN 1599 01:09:06,041 --> 01:09:13,582 SPANISH AS FAST AS I CAN. 1600 01:09:13,649 --> 01:09:15,184 I HAVE PATIENTS IN THE ZONE YOU 1601 01:09:15,251 --> 01:09:17,586 DESCRIBED, EL PASO TOO AND WHAT 1602 01:09:17,653 --> 01:09:20,756 IS HEARTBREAKING IS WHEN I 1603 01:09:20,823 --> 01:09:22,658 RECEIVE ASKS FOR HELP FROM 1604 01:09:22,725 --> 01:09:25,160 PEOPLE FROM MEXICO WHO HAVE AN 1605 01:09:25,227 --> 01:09:29,398 APPOINTMENT AT UNIVERSITY OF 1606 01:09:29,465 --> 01:09:31,233 TEXAS AT HOUSTON AND THEY CAN'T 1607 01:09:31,300 --> 01:09:32,668 GET ACROSS THE BORDER BECAUSE 1608 01:09:32,735 --> 01:09:34,703 YOU HAVE TO HAVE A CERTAIN 1609 01:09:34,770 --> 01:09:37,239 AMOUNT OF MONEY SECURED. 1610 01:09:37,306 --> 01:09:40,776 THEY MAY BE HAVE RAISED WHAT IS 1611 01:09:40,843 --> 01:09:42,244 EQUIVALENT TO THOUSANDS OF 1612 01:09:42,311 --> 01:09:44,647 U.S. DOLLARS AND IT'S NOT ENOUGH 1613 01:09:44,713 --> 01:09:45,648 AND THEY WILL NOT LESS THEM 1614 01:09:45,714 --> 01:09:46,181 CROSS THE BORDER FOR THE 1615 01:09:46,248 --> 01:09:48,551 APPOINTMENT. 1616 01:09:48,617 --> 01:09:50,653 I'M SO GLAD FOR THE WORK THAT 1617 01:09:50,719 --> 01:09:52,454 YOU'RE DOING IN TEXAS BUT MY 1618 01:09:52,521 --> 01:09:54,857 HEART BLEEDS FOR THOSE WHO 1619 01:09:54,924 --> 01:09:55,324 CANNOT ACCESS IT. 1620 01:09:55,391 --> 01:09:59,495 AND I WONDER WHAT YOU WOULD SAY 1621 01:09:59,562 --> 01:10:01,297 FOR TO HELP ME WITH MY PATIENTS 1622 01:10:01,363 --> 01:10:03,365 FROM MEXICO WHO NEED SUPPORT. 1623 01:10:03,432 --> 01:10:04,500 >> THANK YOU SO MUCH. 1624 01:10:04,567 --> 01:10:06,368 I TRULY UNDERSTAND THESE 1625 01:10:06,435 --> 01:10:08,637 BARRIERS EVEN FOR PEOPLE WHO 1626 01:10:08,704 --> 01:10:10,139 LIVE IN THE VALLEY SOMETIMES 1627 01:10:10,205 --> 01:10:10,973 BECAUSE OF MULTIPLE CHECK POINTS 1628 01:10:11,040 --> 01:10:13,208 THEY'RE UNABLE TO GET TO OUR 1629 01:10:13,275 --> 01:10:14,243 CENTERS FOR CARE. 1630 01:10:14,310 --> 01:10:18,147 SO YES, I'LL BE HAPPY TO TALK TO 1631 01:10:18,213 --> 01:10:20,749 YOU MORE. 1632 01:10:20,816 --> 01:10:31,160 THANK YOU VERY MUCH. 1633 01:10:35,564 --> 01:10:35,931 >> ALL RIGHT. 1634 01:10:35,998 --> 01:10:39,068 I'D LIKE TO INTRODUCE OUR NEXT 1635 01:10:39,134 --> 01:10:40,936 SPEAKER, SHE'LL BE PROVIDING 1636 01:10:41,003 --> 01:10:42,071 ANOTHER RARE STORY. 1637 01:10:42,137 --> 01:10:45,574 I'D LIKE TO INVITE JESSICA 1638 01:10:45,641 --> 01:10:48,143 SWANSON SO TO THE STAGE. 1639 01:10:48,210 --> 01:10:50,212 JESSICA ALONG WITH BEING A RARE 1640 01:10:50,279 --> 01:10:52,047 DISEASE CAREGIVER AND MOM IS A 1641 01:10:52,114 --> 01:10:54,583 CO-CHAIR OF THE UNDIAGNOSED 1642 01:10:54,650 --> 01:10:56,719 DISEASES NETWORK PARTICIPANT 1643 01:10:56,785 --> 01:11:01,557 ENGAGEMENT AND EMPOWERMENT 1644 01:11:01,624 --> 01:11:01,824 RESOURCE. 1645 01:11:01,890 --> 01:11:12,034 JESSICA. 1646 01:11:19,775 --> 01:11:20,442 >> HI. 1647 01:11:20,509 --> 01:11:21,910 I STAND BEFORE YOU TODAY HUMBLED 1648 01:11:21,977 --> 01:11:23,779 BY THE OPPORTUNITY TO SHARE OUR 1649 01:11:23,846 --> 01:11:25,881 FAMILY'S JOURNEY THROUGH THE 1650 01:11:25,948 --> 01:11:27,549 LANDSCAPE OF RARE DISEASE 1651 01:11:27,616 --> 01:11:28,684 COURTESY OF NIH. 1652 01:11:28,751 --> 01:11:31,153 OUR STORY, WHILE UNIQUE, REFLECT 1653 01:11:31,220 --> 01:11:33,355 AS A COMMON NARRATIVE IN THIS 1654 01:11:33,422 --> 01:11:33,622 COMMUNITY. 1655 01:11:33,689 --> 01:11:35,791 CHALLENGING THE NOTION OF WHAT 1656 01:11:35,858 --> 01:11:39,361 IS CONSIDERED NORMAL, OUR NORMAL 1657 01:11:39,428 --> 01:11:41,930 AND A TYPICAL NORMAL 1658 01:11:41,997 --> 01:11:44,199 ENCAPSULATES A LIFE 1659 01:11:44,266 --> 01:11:44,833 UNCONVENTIONAL BY MANY BUT OUR 1660 01:11:44,900 --> 01:11:48,103 EVERYDAY REALITY. 1661 01:11:48,170 --> 01:11:54,343 OUR JOURNEY BEGAN WITH THE BIRTH 1662 01:11:54,410 --> 01:11:59,148 OF OUR DAUGHTER IN 2012 SHADOWED 1663 01:11:59,214 --> 01:12:04,687 BY THE KNOWLEDGE OF A FAMILY 1664 01:12:04,753 --> 01:12:08,323 DISPOSITION OFF SEA7. 1665 01:12:08,390 --> 01:12:09,591 DESPITE POSITIVE TEST RESULTS 1666 01:12:09,658 --> 01:12:13,095 FOR THE CONDITION SHE WAS NOT 1667 01:12:13,162 --> 01:12:15,264 EXPECTED TO EXHIBIT SYMPTOMS FOR 1668 01:12:15,330 --> 01:12:19,802 DECADES THANKS TO HER LOWER CAG 1669 01:12:19,868 --> 01:12:20,469 REPEAT COUNTY. 1670 01:12:20,536 --> 01:12:24,473 SHE MET MILESTONES AND FILLING 1671 01:12:24,540 --> 01:12:26,642 OUR HEARTS WITH JOY. 1672 01:12:26,709 --> 01:12:28,711 LITTLE DID WE KNOW OUR 1673 01:12:28,777 --> 01:12:33,549 INFORMATION OF RARE WOULD BE 1674 01:12:33,615 --> 01:12:36,418 PROFOUNDLY WHEN AT 7 MONTHS OLD 1675 01:12:36,485 --> 01:12:37,820 SHE BEGAN DISPLAYING UNUSUAL 1676 01:12:37,886 --> 01:12:38,087 MOVEMENTS. 1677 01:12:38,153 --> 01:12:41,356 WHAT WE INITIALLY DISMISSED AS 1678 01:12:41,423 --> 01:12:44,893 BABY REFLEXES WERE RECOGNIZED AS 1679 01:12:44,960 --> 01:12:46,095 SOMETHING MORE SERIOUS. 1680 01:12:46,161 --> 01:12:48,363 LED US TO THE HOSPITAL AND 1681 01:12:48,430 --> 01:12:52,234 BATTERY OF TESTS REVEALED 1682 01:12:52,301 --> 01:12:55,104 INFANTILE SPASMS, SEA7 WAS NOT 1683 01:12:55,170 --> 01:12:56,538 THE CAUSE AND THE ACTUAL CAUSE 1684 01:12:56,605 --> 01:12:59,742 WE MAINED ELUSIVE. 1685 01:12:59,808 --> 01:13:02,344 -- REMAINED ELUSIVE. 1686 01:13:02,411 --> 01:13:06,715 OVER THE NEXT NINE YEAR WE 1687 01:13:06,782 --> 01:13:08,150 CONSULTED WITH NUMEROUS 1688 01:13:08,217 --> 01:13:09,585 NEUROLOGISTS AND SPECIALISTS IN 1689 01:13:09,651 --> 01:13:12,254 PURSUIT OF AN EXPLANATION OF HER 1690 01:13:12,321 --> 01:13:12,855 CONDITION. 1691 01:13:12,921 --> 01:13:14,890 DESPITE COMPREHENSIVE TESTING, A 1692 01:13:14,957 --> 01:13:22,097 DIAGNOSIS REMAINED OUT OF REACH. 1693 01:13:22,164 --> 01:13:25,934 CAN OUR QUEST FOR ANSWERS WAS 1694 01:13:26,001 --> 01:13:29,605 COMPOUNDED BY A DIAGNOSIS OF 1695 01:13:29,671 --> 01:13:31,540 AUTISM AT 2 YEARS OLD. 1696 01:13:31,607 --> 01:13:34,309 HER QUALITY OF LIFE WAS LOW AND 1697 01:13:34,376 --> 01:13:38,614 WE LOOKED ON HELPLESSLY AS HE 1698 01:13:38,680 --> 01:13:40,415 SUFFERED THROUGH EIGHT SEIZURES 1699 01:13:40,482 --> 01:13:44,686 A DAY AND WE EXHAUSTED ALL 1700 01:13:44,753 --> 01:13:45,821 ANTI-EPILEPTIC MEDICATIONS 1701 01:13:45,888 --> 01:13:49,091 AVAILABLE AT THAT TIME, FAILED A 1702 01:13:49,158 --> 01:13:54,630 KETO GENIC DIET AND NERVE 1703 01:13:54,696 --> 01:13:54,930 STIMULATOR. 1704 01:13:54,997 --> 01:14:05,274 OUR LAST HOPE FOR SEIZURE 1705 01:14:05,340 --> 01:14:06,742 CONTROL WAS A MEDICATION THAT 1706 01:14:06,809 --> 01:14:11,280 BROUGHT HER SEIZURE TO A HALT. 1707 01:14:11,346 --> 01:14:14,716 TODAY THE REMAINS TONIC CONNICK 1708 01:14:14,783 --> 01:14:19,354 SEIZURE FREE AND ONLY HAS A FEW 1709 01:14:19,421 --> 01:14:20,689 A YEAR. 1710 01:14:20,756 --> 01:14:22,357 THIS IS NOT SOMETHING WE TAKE 1711 01:14:22,424 --> 01:14:25,194 FOR GRANT AND THANK FOL FOR THE 1712 01:14:25,260 --> 01:14:26,495 FDA APPROVAL OF THE DRUG THAT 1713 01:14:26,562 --> 01:14:27,763 SAVED HER LIFE. 1714 01:14:27,830 --> 01:14:33,168 DESPITE THE SIGNIFICANT 1715 01:14:33,235 --> 01:14:36,638 IMPROVEMENT IN HER CONDITION THE 1716 01:14:36,705 --> 01:14:40,843 ABSENCE OF A DIAGNOSIS SX 1717 01:14:40,909 --> 01:14:46,014 EXASPERATE THE EMOTIONAL TOLL. 1718 01:14:46,081 --> 01:14:49,418 I KNOW MANY PARENTS CAN RELATE. 1719 01:14:49,484 --> 01:14:50,185 THE RARE DISEASE COMMUNITY 1720 01:14:50,252 --> 01:14:52,554 HOWEVER, TAUGHT US RARE DOES NOT 1721 01:14:52,621 --> 01:14:56,692 EQUATE ALONE AND THERE IS 1722 01:14:56,758 --> 01:14:57,359 STRENGTH IN SHARED EXPERIENCES. 1723 01:14:57,426 --> 01:15:03,165 OUR JOURNEY WAS NOT WITHOUT 1724 01:15:03,232 --> 01:15:03,432 BENEFITS. 1725 01:15:03,498 --> 01:15:06,301 THE CONSTANT RELOCATION OF A 1726 01:15:06,368 --> 01:15:07,402 MILITARY LIFE OFFERED FRESH 1727 01:15:07,469 --> 01:15:09,571 PERSPECTIVES AND TREATMENTS WITH 1728 01:15:09,638 --> 01:15:12,608 EACH MOVE ALLOWING PARTICIPATE 1729 01:15:12,674 --> 01:15:14,710 IN THE STUDY WHEN SHE WAS 3 WAS 1730 01:15:14,776 --> 01:15:16,245 ONE OF THOSE. 1731 01:15:16,311 --> 01:15:18,247 YET THE CHALLENGE OF CONVEYING 1732 01:15:18,313 --> 01:15:20,215 YEARS OF MEDICAL HISTORY IN MERE 1733 01:15:20,282 --> 01:15:24,052 MINUTES TO NEW DOCTORS THE 1734 01:15:24,119 --> 01:15:26,688 WEIGHT OF THE FOUR-INCH MEDICAL 1735 01:15:26,755 --> 01:15:29,157 BINDER AND TRUST PLACED IN NEW 1736 01:15:29,224 --> 01:15:30,525 HANDS NEVER GOT EASIER. 1737 01:15:30,592 --> 01:15:33,562 IN 2021 MY FAMILY EMBARKED ON A 1738 01:15:33,629 --> 01:15:35,864 PATH WITH THE UNDIAGNOSED 1739 01:15:35,931 --> 01:15:38,634 DISEASE NETWORK AS A RESOURCE 1740 01:15:38,700 --> 01:15:39,902 FOR A POSSIBLE DIAGNOSIS. 1741 01:15:39,968 --> 01:15:41,570 IT WAS THROUGH THE EFFORTS OF 1742 01:15:41,637 --> 01:15:45,540 THIS NETWORK WE RECEIVED A 1743 01:15:45,607 --> 01:15:49,111 DIAGNOSIS BEFORE HER 10th 1744 01:15:49,177 --> 01:15:50,112 BIRTHDAY. 1745 01:15:50,178 --> 01:15:52,514 THE DIAGNOSIS WAS CDKL5. 1746 01:15:52,581 --> 01:15:54,650 A SURPRISE TO US AS THIS 1747 01:15:54,716 --> 01:15:56,218 CONDITION WAS PREVIOUSLY RULE 1748 01:15:56,285 --> 01:15:58,987 OUT MULTIPLE TIMES WITH HER 1749 01:15:59,054 --> 01:16:00,188 GENOME SEQUENCE TWICE WHEN SHE 1750 01:16:00,255 --> 01:16:02,557 WAS 2 AND 4 YEARS OLD. 1751 01:16:02,624 --> 01:16:04,293 ADDITIONALLY, SHE WAS 1752 01:16:04,359 --> 01:16:07,596 SPECIFICALLY TESTED FOR CDKL5 AT 1753 01:16:07,663 --> 01:16:09,498 14 MONTHS OLD 1754 01:16:09,564 --> 01:16:12,134 DESPITE THIS, THE DIAGNOSIS WAS 1755 01:16:12,200 --> 01:16:15,170 A REVELATION AND CONFIRMATION 1756 01:16:15,237 --> 01:16:16,805 CHANGING EVERYTHING AND NOTHING. 1757 01:16:16,872 --> 01:16:19,107 IT PROVIDED A LABEL, A COMMUNITY 1758 01:16:19,174 --> 01:16:24,079 AND HOPE FOR THE FUTURE YET SHE 1759 01:16:24,146 --> 01:16:27,983 REMAINED THE SAME VIBRANT CHILD 1760 01:16:28,050 --> 01:16:32,354 WE ALWAYS NEW. 1761 01:16:32,421 --> 01:16:36,024 THE DIAGNOSIS OF CDD WAS A 1762 01:16:36,091 --> 01:16:37,926 SIGNIFICANT TURNING POINT AND 1763 01:16:37,993 --> 01:16:39,294 WHILE A CHALLENGING RARE 1764 01:16:39,361 --> 01:16:40,996 DIAGNOSIS IT OPENED DOORS TO 1765 01:16:41,063 --> 01:16:42,831 BECOMING PART OF A UNIQUE AND 1766 01:16:42,898 --> 01:16:43,565 SUPPORTIVE COMMUNITY. 1767 01:16:43,632 --> 01:16:45,567 THIS HAS PROVIDED A STRONG 1768 01:16:45,634 --> 01:16:48,236 FOUNDATION OF SUPPORT, RESOURCES 1769 01:16:48,303 --> 01:16:56,244 AND ILLUMINATED MOMENTS OF HOPE. 1770 01:16:56,311 --> 01:16:58,647 THROUGH THE COLLECTIVE EFFORT OF 1771 01:16:58,714 --> 01:17:00,415 THOSE AFFECTED BY THIS PRIOR TO 1772 01:17:00,482 --> 01:17:01,516 THE DIAGNOSIS WE DID NOT KNOW 1773 01:17:01,583 --> 01:17:03,151 WHERE WE BELONGED IN THE 1774 01:17:03,218 --> 01:17:03,485 COMMUNITY. 1775 01:17:03,552 --> 01:17:05,887 WITH EXCITING POSSIBLE MEDICAL 1776 01:17:05,954 --> 01:17:08,690 TREATMENTS FOR CDKL5 IN THE 1777 01:17:08,757 --> 01:17:09,725 IMMEDIATE PIPELINE WE WOULD HAVE 1778 01:17:09,791 --> 01:17:12,027 THE OPPORTUNITY TO IMPROVE HER 1779 01:17:12,094 --> 01:17:14,396 LIFE BECAUSE WE DIDN'T HAVE THE 1780 01:17:14,463 --> 01:17:16,732 DIAGNOSIS UNTIL THE END. 1781 01:17:16,798 --> 01:17:18,734 THIS BRINGS ME TO THE HEART OF 1782 01:17:18,800 --> 01:17:19,668 THE MESSAGE TODAY. 1783 01:17:19,735 --> 01:17:22,170 HER STORY IS A TESTAMENT TO THE 1784 01:17:22,237 --> 01:17:23,705 COMPLEXITIES OF RARE DISEASES. 1785 01:17:23,772 --> 01:17:26,008 THE LIMITATION OF CURRENT 1786 01:17:26,074 --> 01:17:28,243 MEDICAL SYSTEMS AND THE PROFOUND 1787 01:17:28,310 --> 01:17:29,611 IMPACT OF COMMUNITY AND 1788 01:17:29,678 --> 01:17:31,613 COLLABORATION. 1789 01:17:31,680 --> 01:17:36,351 THE NEED FOR A UNIFIED MEDICAL 1790 01:17:36,418 --> 01:17:37,919 SYSTEM AND MORE COLLABORATIVE 1791 01:17:37,986 --> 01:17:40,288 APPROACHES TO PATIENT CARE IS 1792 01:17:40,355 --> 01:17:40,522 EVIDENT. 1793 01:17:40,589 --> 01:17:42,524 OUR EXPERIENCE UNDER SCORE THE 1794 01:17:42,591 --> 01:17:44,726 IMPORTANCE OF NOT JUST LOOKING 1795 01:17:44,793 --> 01:17:48,397 BUT SEEING, NOT JUST TESTING BUT 1796 01:17:48,463 --> 01:17:50,732 INFORMATION AND NOT JUST 1797 01:17:50,799 --> 01:17:54,603 TREATING BUT EMPATHIZING. 1798 01:17:54,669 --> 01:17:55,837 AS RESEARCHERS, HEALTH CARE 1799 01:17:55,904 --> 01:17:57,539 PROVIDERS AND ADVOCATES LET US 1800 01:17:57,606 --> 01:18:01,276 TAKE HER STORY AS A CALL TO 1801 01:18:01,343 --> 01:18:01,510 ACTION. 1802 01:18:01,576 --> 01:18:03,378 LET US STRIVE FOR A FUTURE WHERE 1803 01:18:03,445 --> 01:18:05,947 THE RARE ARE NOT JUST RECOGNIZED 1804 01:18:06,014 --> 01:18:07,149 BUT UNDERSTOOD. 1805 01:18:07,215 --> 01:18:10,652 WHERE OUR MEDICAL SYSTEMS ARE AS 1806 01:18:10,719 --> 01:18:13,021 INTERCONNECTED AS OUR SHARED 1807 01:18:13,088 --> 01:18:14,723 EXPERIENCES AND WHERE EVERY 1808 01:18:14,790 --> 01:18:17,159 INDIVIDUAL REGARDLESS OF THEIR 1809 01:18:17,225 --> 01:18:20,062 CONDITION FINDS A PLACE OF 1810 01:18:20,128 --> 01:18:20,996 BELONGING AND HOPE. 1811 01:18:21,063 --> 01:18:23,565 TOGETHER, WE CAN TURN THE TIDE 1812 01:18:23,632 --> 01:18:25,067 FOR FAMILIES LIKE OURS 1813 01:18:25,133 --> 01:18:27,569 NAVIGATING THE TURBULENT WATERS 1814 01:18:27,636 --> 01:18:29,571 OF RARE DISEASE TOWARDS A 1815 01:18:29,638 --> 01:18:32,707 BRIGHTER MORE INCLUSIVE FUTURE. 1816 01:18:32,774 --> 01:18:42,951 THANK YOU. 1817 01:18:51,193 --> 01:18:53,562 I'LL BE HAPPY TO TAKE ANY 1818 01:18:53,628 --> 01:18:56,131 QUESTIONS BEFORE OUR BREAK. 1819 01:18:56,198 --> 01:18:59,134 >> THANK YOU FOR THE STORY. 1820 01:18:59,201 --> 01:19:00,635 I LOVE THE PHOTOS. 1821 01:19:00,702 --> 01:19:02,537 THEY'RE SO BEAUTIFUL. 1822 01:19:02,604 --> 01:19:07,876 MY QUESTION ESPECIALLY SINCE WE 1823 01:19:07,943 --> 01:19:13,582 HEAR ABOUT THE OF THE ODYSSEY 1824 01:19:13,648 --> 01:19:15,350 NOT REALLY A JOURNEY. 1825 01:19:15,417 --> 01:19:17,486 WOULD YOU INCLUDE SPEECH AND 1826 01:19:17,552 --> 01:19:19,888 THERAPY EVEN WHILE YOU'RE NOT 1827 01:19:19,955 --> 01:19:20,622 GETTING A DIAGNOSIS? 1828 01:19:20,689 --> 01:19:22,023 WHAT WOULD YOU DO DIFFERENTLY 1829 01:19:22,090 --> 01:19:22,757 BECAUSE I KNOW THERE'S PARENTS 1830 01:19:22,824 --> 01:19:24,693 THAT MUST BE EXPERIENCING THIS 1831 01:19:24,759 --> 01:19:27,129 AND MAYBE THAT'S WHAT WE SAY. 1832 01:19:27,195 --> 01:19:29,397 UNTIL YOU GET IT MAYBE SOME OF 1833 01:19:29,464 --> 01:19:30,765 THESE ARE THINGS YOU CAN DO 1834 01:19:30,832 --> 01:19:33,001 UNTIL YOU GET THE CONFIRMED 1835 01:19:33,068 --> 01:19:36,104 DIAGNOSIS. 1836 01:19:36,171 --> 01:19:37,772 >> GREAT QUESTION. 1837 01:19:37,839 --> 01:19:39,007 DO ALL THOSE THINGS. 1838 01:19:39,074 --> 01:19:43,512 AS MUCH TREATMENT AS POSSIBLE. 1839 01:19:43,578 --> 01:19:45,747 SOME BARRIERS PARENTS COME TO IS 1840 01:19:45,814 --> 01:19:48,750 NOT HAVING A MEDICAL LABEL FOR 1841 01:19:48,817 --> 01:19:49,651 TREATMENT FOR INSURANCE. 1842 01:19:49,718 --> 01:19:52,621 I'M A BEHAVIOR ANALYST BY TRADE 1843 01:19:52,687 --> 01:19:53,889 SO I TREAT THOSE WITH AUTISM 1844 01:19:53,955 --> 01:19:57,559 WITH ADA THERAPY WHICH IS AN 1845 01:19:57,626 --> 01:19:59,161 EFFECTIVE THERAPY FOR MANY 1846 01:19:59,227 --> 01:20:01,596 DEVELOPMENT DELAYS BUT IF YOU 1847 01:20:01,663 --> 01:20:04,566 DON'T HAVE THE CODING, INSURANCE 1848 01:20:04,633 --> 01:20:06,134 WON'T COVER IT. 1849 01:20:06,201 --> 01:20:10,138 WE WERE LUCKY TO HAVE A PARTIAL 1850 01:20:10,205 --> 01:20:17,546 DIAGNOSIS OF AUTISM WHICH IS 1851 01:20:17,612 --> 01:20:22,851 PART OF THIS AND I'M GLAD YOU 1852 01:20:22,918 --> 01:20:23,518 BROUGHT THAT UP. 1853 01:20:23,585 --> 01:20:24,986 I DON'T KNOW WHAT THE ANSWER IS 1854 01:20:25,053 --> 01:20:26,721 BUT MAYBE WE CAN FIGURE IT OUT 1855 01:20:26,788 --> 01:20:26,988 TOGETHER. 1856 01:20:27,055 --> 01:20:34,963 >> PERFECT, THANK YOU. 1857 01:20:35,030 --> 01:20:37,232 >> THANK YOU FOR SHARING YOUR 1858 01:20:37,299 --> 01:20:37,432 STORY. 1859 01:20:37,499 --> 01:20:38,733 THAT WAS AMAZING AND I 1860 01:20:38,800 --> 01:20:39,434 APPRECIATE IT. 1861 01:20:39,501 --> 01:20:41,670 I KNOW YOUR DAUGHTER'S YOUNGER 1862 01:20:41,736 --> 01:20:43,238 AND MANY IN THE RARE DISEASE 1863 01:20:43,305 --> 01:20:46,608 COMMUNITY HAVE A LONG, LONG 1864 01:20:46,675 --> 01:20:47,542 PERIOD BEFORE THEY GET A 1865 01:20:47,609 --> 01:20:50,812 DIAGNOSIS EVEN IF THEY DO. 1866 01:20:50,879 --> 01:20:52,013 WHAT WE'VE BEEN SEEING AND I 1867 01:20:52,080 --> 01:20:53,548 DON'T KNOW IF THAT'S A 1868 01:20:53,615 --> 01:20:54,449 REFLECTION OF OUR HEALTH CARE 1869 01:20:54,516 --> 01:20:56,718 SYSTEM RIGHT NOW IS THAT THOSE 1870 01:20:56,785 --> 01:20:58,553 WITH RARE DISEASES ESPECIALLY 1871 01:20:58,620 --> 01:21:01,556 WHEN THEY GET ON THE CUSP OF 1872 01:21:01,623 --> 01:21:03,825 ADULTHOOD OFTEN FIND THEMSELVES 1873 01:21:03,892 --> 01:21:07,395 BEING TOLD IT'S PSYCHOLOGICAL OR 1874 01:21:07,462 --> 01:21:09,531 IN YOUR HEAD OR -- AND AGAIN, I 1875 01:21:09,598 --> 01:21:11,933 BELIEVE IN MENTAL HEALTH WHEN 1876 01:21:12,000 --> 01:21:13,668 HAVE YOU A DIAGNOSIS IN YOUR 1877 01:21:13,735 --> 01:21:16,471 FAMILY AS A CAREGIVER OR A CHILD 1878 01:21:16,538 --> 01:21:17,806 BECAUSE THAT'S VERY HEAVY BUT 1879 01:21:17,872 --> 01:21:22,611 AGAIN I SEE MORE AND MORE 1880 01:21:22,677 --> 01:21:23,678 INDIVIDUALS WITH RARE DISEASES 1881 01:21:23,745 --> 01:21:24,179 BEING DISMISSED. 1882 01:21:24,246 --> 01:21:26,147 WHAT ARE YOUR THOUGHTS ON THAT? 1883 01:21:26,214 --> 01:21:27,349 >> THANKS FOR THAT QUESTION. 1884 01:21:27,415 --> 01:21:28,483 THAT'S A GOOD POINT. 1885 01:21:28,550 --> 01:21:30,018 THAT'S SOMETHING WE HAVE TALKED 1886 01:21:30,085 --> 01:21:32,254 ABOUT AS PART OF MY WORK WITH 1887 01:21:32,320 --> 01:21:33,221 THE UNDIAGNOSED DISEASE NETWORK 1888 01:21:33,288 --> 01:21:41,563 FOUNDATION. 1889 01:21:41,630 --> 01:21:52,107 THE STATISTICS SHOW 1890 01:21:58,613 --> 01:22:01,116 AND WE KNOW ONE IN 10 PEOPLE 1891 01:22:01,182 --> 01:22:02,817 HAVE A RARE DISORDER SO IT IS 1892 01:22:02,884 --> 01:22:03,752 COMMON. 1893 01:22:03,818 --> 01:22:05,553 IT'S NOT UNCOMMON. 1894 01:22:05,620 --> 01:22:05,754 YEAH. 1895 01:22:05,820 --> 01:22:16,097 GREAT QUESTION. 1896 01:22:22,170 --> 01:22:23,872 >> I KNOW I'M NOT THE ONLY 1897 01:22:23,938 --> 01:22:24,472 PERSON WITH THIS QUESTION IF 1898 01:22:24,539 --> 01:22:34,215 THEY'RE DOING IT. 1899 01:22:34,282 --> 01:22:36,685 FURTHER BACK. 1900 01:22:36,751 --> 01:22:37,852 THERE. 1901 01:22:37,919 --> 01:22:42,957 MAA, CBS, WHAT ARE THOSE? 1902 01:22:43,024 --> 01:22:49,197 >> I'M A BOARD CERTIFIED 1903 01:22:49,264 --> 01:22:53,101 BEHAVIOR ANALYST AND CERTIFIED 1904 01:22:53,168 --> 01:22:54,869 AUTISM SPECIALIST WITH MY 1905 01:22:54,936 --> 01:22:55,136 MASTER'S. 1906 01:22:55,203 --> 01:22:55,603 >> THANK YOU. 1907 01:22:55,670 --> 01:22:58,239 >> WHILE WE'RE WAITING FOR A 1908 01:22:58,306 --> 01:23:00,208 MEDICAL DIAGNOSIS WHILE SHE WAS 1909 01:23:00,275 --> 01:23:01,343 DIAGNOSED WITH AUTISM I DECIDED 1910 01:23:01,409 --> 01:23:03,311 TO DEVOTE MY LIFE TO HELPING 1911 01:23:03,378 --> 01:23:05,313 THOSE WITH AUTISM IN THE BEST 1912 01:23:05,380 --> 01:23:06,881 WAY I COULD WAS BECOME AN EXPERT 1913 01:23:06,948 --> 01:23:08,750 IN THE FIELD SO THAT'S WHAT I 1914 01:23:08,817 --> 01:23:13,688 DID TO SUPPORT HER AND NOW ALL 1915 01:23:13,755 --> 01:23:19,127 OF HER FRIENDS. 1916 01:23:19,194 --> 01:23:29,371 THANK YOU. 1917 01:23:47,255 --> 01:23:52,660 >> BEFORE WE LEAVE I WANT TO 1918 01:23:52,727 --> 01:23:53,661 WELCOME A PROCLAMATION OF THANKS 1919 01:23:53,728 --> 01:24:03,972 TO DR. RUTTER. 1920 01:24:10,345 --> 01:24:11,746 >> HELLO, EVERYONE. 1921 01:24:11,813 --> 01:24:14,682 MY NAME IS JAMES BEST. 1922 01:24:14,749 --> 01:24:23,358 I HAVE JUVENILE MYO-CYTIS AND 1923 01:24:23,425 --> 01:24:24,959 HAD SYMPTOMS AT 4 YEARS OLD AND 1924 01:24:25,026 --> 01:24:29,798 NOT DIAGNOSED UNTIL I WAS 4. 1925 01:24:29,864 --> 01:24:32,167 I'VE BEEN BATTLING THIS DISEASE 1926 01:24:32,233 --> 01:24:33,468 MY WHOLE LIFE AND MY LIFE 1927 01:24:33,535 --> 01:24:34,702 RESOLVES AROUND TREATMENTS. 1928 01:24:34,769 --> 01:24:37,605 IN ADDITION TO THOUSANDS OF 1929 01:24:37,672 --> 01:24:40,742 PILLS OVER THE YEARS ANYWAY, 1930 01:24:40,809 --> 01:24:44,813 WEEKLY, CHEMO SHOTS, 25 1931 01:24:44,879 --> 01:24:49,684 TREATMENT DAYS A YEAR. 1932 01:24:49,751 --> 01:24:52,787 I HAVE AN ALL DAY INFUSION AND 1933 01:24:52,854 --> 01:24:55,523 PUT ME UNDER WITH ANESTHESIA OR 1934 01:24:55,590 --> 01:24:57,592 SOMETHING OF THE SORT AND A 1935 01:24:57,659 --> 01:24:59,627 MONTH EVERY YEAR I LOSE BECAUSE 1936 01:24:59,694 --> 01:25:03,231 THERE HASN'T BEEN MUCH OUT THERE 1937 01:25:03,298 --> 01:25:04,732 FOR JM AND OTHER RARE DISEASES 1938 01:25:04,799 --> 01:25:15,210 IN TERMS OF TREATMENTS. 1939 01:25:16,911 --> 01:25:20,782 IDEAL WITH EXTREME WEAKNESS 1940 01:25:20,849 --> 01:25:23,117 PROJECTS ARE TRADE AND PROJECTS 1941 01:25:23,184 --> 01:25:25,353 GIVE ME HOPE THE NEWLY DIAGNOSED 1942 01:25:25,420 --> 01:25:26,788 WHO COME AFTER ME WILL NOT HAVE 1943 01:25:26,855 --> 01:25:29,591 TO DEAL WITH ALL THE CONCERNS I 1944 01:25:29,657 --> 01:25:33,194 HAVE. 1945 01:25:33,261 --> 01:25:37,565 ON BEHALF OF THE CURE JM COUNCIL 1946 01:25:37,632 --> 01:25:43,705 AND RARE DISEASE COMMUNITY IT'S 1947 01:25:43,771 --> 01:25:46,875 MY HONOR TO GIVE THIS TO 1948 01:25:46,941 --> 01:25:47,742 DR. RUTTER AND THE NCATS TEAM. 1949 01:25:47,809 --> 01:25:49,277 THANK YOU FOR YOUR COMMITMENT 1950 01:25:49,344 --> 01:25:51,513 AND DEDICATION TO RARE DISEASES 1951 01:25:51,579 --> 01:25:52,146 AND YOUR WORK MEANS EVERYTHING 1952 01:25:52,213 --> 01:26:02,557 TO PATIENTS LIKE ME. 1953 01:26:19,807 --> 01:26:26,714 >> HU THU -- THANK YOU FOR 1954 01:26:26,781 --> 01:26:28,483 PRESENTING THAT AND THE TEAM. 1955 01:26:28,550 --> 01:26:32,987 WE'LL BE ON BREAK TO 10:55 AND 1956 01:26:33,054 --> 01:26:36,057 SEE ART AND EXHIBITS AND TALK 1957 01:26:36,124 --> 01:26:36,925 AMONGST YOURSELVES AN WE'LL KEEP 1958 01:26:36,991 --> 01:26:37,559 IT GOING. 1959 01:26:37,625 --> 01:26:41,563 WE'LL SEE YOU SOON. 1960 01:26:41,629 --> 01:26:47,035 >> WE'RE GOING GET STARTED. 1961 01:26:47,101 --> 01:26:49,337 IT'S A PLEASURE TO ANNOUNCE 1962 01:26:49,404 --> 01:26:50,405 ANOTHER FIRST. 1963 01:26:50,471 --> 01:26:53,107 WE HAVE DR. MONICA BERTAGNOLLI 1964 01:26:53,174 --> 01:26:56,244 HERE TODAY THE DIRECTOR OF THE 1965 01:26:56,311 --> 01:26:56,411 NIH. 1966 01:26:56,477 --> 01:27:00,548 SHE'S THE 17th DIRECTOR OF THE 1967 01:27:00,615 --> 01:27:00,715 NIH. 1968 01:27:00,782 --> 01:27:05,653 SHE IS THE FIRST SURGEON AND 1969 01:27:05,720 --> 01:27:06,921 SECOND WOMAN TO HOLD THE 1970 01:27:06,988 --> 01:27:07,188 POSITION. 1971 01:27:07,255 --> 01:27:13,661 SHE WAS NOMINATED BY PRESIDENT 1972 01:27:13,728 --> 01:27:15,229 BIDEN AND TOOK OFFICE OF 1973 01:27:15,296 --> 01:27:20,268 NOVEMBER 2023. 1974 01:27:20,335 --> 01:27:21,970 HER PREVIOUS SERVICE WAS AT THE 1975 01:27:22,036 --> 01:27:22,937 NIH. 1976 01:27:23,004 --> 01:27:26,140 SHE WAS THE 16th DIRECTOR OF THE 1977 01:27:26,207 --> 01:27:27,842 NATIONAL CANCER INSTITUTE AND 1978 01:27:27,909 --> 01:27:30,278 PRIOR TO THAT THE PROFESSOR OF 1979 01:27:30,345 --> 01:27:37,118 AND SURGICAL ONCOLOGY AT HARVARD 1980 01:27:37,185 --> 01:27:39,087 MEDICAL SCHOOL AND PART OF THE 1981 01:27:39,153 --> 01:27:44,058 SARCOMA CENTER AT DANA FAR BER 1982 01:27:44,125 --> 01:27:44,325 INSTITUTE. 1983 01:27:44,392 --> 01:27:45,860 SHE'S BEEN AT THE FOREFRONT OF 1984 01:27:45,927 --> 01:27:48,196 THE FIELD OF CLINICAL ONCOLOGY 1985 01:27:48,262 --> 01:27:52,700 AND SHE IS NO STRANGER TO RARE 1986 01:27:52,767 --> 01:27:53,267 DISEASES AND TO PEOPLE WITH 1987 01:27:53,334 --> 01:28:01,442 DEBILITATING DISORDERS. 1988 01:28:01,509 --> 01:28:09,651 SHE HAD A LAB IN CANCER AND THE 1989 01:28:09,717 --> 01:28:12,253 RESEARCH OF CANCER GROWTH AND 1990 01:28:12,320 --> 01:28:13,087 TRANSFORMED THE DATA 1991 01:28:13,154 --> 01:28:13,855 INFRASTRUCTURE FOR CLINICAL 1992 01:28:13,921 --> 01:28:16,557 RESEARCH AND WAS THE FOUNDING 1993 01:28:16,624 --> 01:28:19,260 CHAIR OF THE MINIMAL COMMON 1994 01:28:19,327 --> 01:28:20,962 ONCOLOGY GROUP ON THE EXECUTIVE 1995 01:28:21,029 --> 01:28:22,497 COMMITTEE. 1996 01:28:22,563 --> 01:28:25,633 SHE SERVED IN A VARIETY OF 1997 01:28:25,700 --> 01:28:29,671 CAPACITIES, HAS A GREAT DEPTH OF 1998 01:28:29,737 --> 01:28:31,739 TRANSLATIONAL SCIENCE AND DATA 1999 01:28:31,806 --> 01:28:31,973 SCIENCE. 2000 01:28:32,040 --> 01:28:42,583 SHE'S ALSO THE DAUGHTER OF FIRST 2001 01:28:42,917 --> 01:28:44,419 GENERATION OF IMMIGRANT AND 2002 01:28:44,485 --> 01:28:46,421 GRADUATED FROM PRINCETON WITH A 2003 01:28:46,487 --> 01:28:48,556 BACHELOR OF SCIENCE AND 2004 01:28:48,623 --> 01:28:49,323 ENGINEERING AND ATTEND MEDICAL 2005 01:28:49,390 --> 01:28:50,491 SCHOOL AT THE UNIVERSITY OF YOU 2006 01:28:50,558 --> 01:28:53,227 IT AND TRAINED IN SURGERY AT 2007 01:28:53,294 --> 01:28:56,064 BRIGHAM AND WOMEN'S HOSPITAL AND 2008 01:28:56,130 --> 01:29:00,435 WAS A RESEARCH FELLOW IN 2009 01:29:00,501 --> 01:29:04,372 IMMUNOLOGY AT THE DANA FARBER 2010 01:29:04,439 --> 01:29:07,675 INSTITUTE AND WE'VE BEEN ABLE TO 2011 01:29:07,742 --> 01:29:11,079 COAX HER IT BETHESDA AND IT'S MY 2012 01:29:11,145 --> 01:29:13,147 PLEASURE TO WELCOME HER TO THE 2013 01:29:13,214 --> 01:29:20,521 STAGE TODAY. 2014 01:29:20,588 --> 01:29:23,758 >> THANK YOU. 2015 01:29:23,825 --> 01:29:24,792 I CAN'T TELL YOU HOW THRILLED I 2016 01:29:24,859 --> 01:29:29,630 AM TO BE HERE. 2017 01:29:29,697 --> 01:29:33,034 I WANT TO JOIN OUR HOST IN 2018 01:29:33,101 --> 01:29:34,001 WELCOMING YOU TO RARE DISEASE 2019 01:29:34,068 --> 01:29:35,737 TODAY 2024 AND THANK YOU TO 2020 01:29:35,803 --> 01:29:37,138 DR. RUTTER AND GILMAN THE 2021 01:29:37,205 --> 01:29:39,874 DIRECTOR OF THE CLINICAL CENTER 2022 01:29:39,941 --> 01:29:42,276 HERE FOR THE WORK YOU AND YOUR 2023 01:29:42,343 --> 01:29:43,411 COLLEAGUES DO AT THE NATIONAL 2024 01:29:43,478 --> 01:29:46,047 CENTER FOR ADVANCING 2025 01:29:46,114 --> 01:29:46,781 TRANSLATIONAL SCIENCES AND AT 2026 01:29:46,848 --> 01:29:49,550 THE NIH CLINICAL CENTER TO 2027 01:29:49,617 --> 01:29:51,085 BETTER UNDERSTAND AND TREAT THE 2028 01:29:51,152 --> 01:30:00,194 WIDE RANGE OF RARE DISEASES. 2029 01:30:00,261 --> 01:30:03,965 WE BELIEVE IN CARING FOR PEOPLE 2030 01:30:04,031 --> 01:30:04,899 WITH RARE DISEASES IS AT THE 2031 01:30:04,966 --> 01:30:06,734 HEART OF EVERYTHING WE DO 2032 01:30:06,801 --> 01:30:12,073 BECAUSE NIH CAN BE A FOCAL POINT 2033 01:30:12,140 --> 01:30:14,375 FOR THIS INCREDIBLY DIVERSE AND 2034 01:30:14,442 --> 01:30:15,376 CHALLENGING COMMUNITY OF PEOPLE 2035 01:30:15,443 --> 01:30:17,845 WITH RARE DISEASES. 2036 01:30:17,912 --> 01:30:22,083 I'D ALSO LIKE TO RECOGNIZED 2037 01:30:22,150 --> 01:30:27,355 DR. DOMINIQUE PICHARD AND 2038 01:30:27,421 --> 01:30:31,359 DR. CHEN AND FOR THEIR WORK IN 2039 01:30:31,425 --> 01:30:36,264 COORDINATING THE EVENT. 2040 01:30:36,330 --> 01:30:38,900 I WANT TO ACKNOWLEDGE THE 2041 01:30:38,966 --> 01:30:43,404 CO-CHAIRS OF THE RARE DISEASE 2042 01:30:43,471 --> 01:30:54,048 CAUCUS WHO HAVE PROVIDE D 2043 01:30:57,885 --> 01:30:58,886 LEADERSHIP AND THANK YOU FOR 2044 01:30:58,953 --> 01:31:00,354 YOUR PARTICIPATION AND YOUR 2045 01:31:00,421 --> 01:31:08,996 CARING AND YOUR SUPPORT. 2046 01:31:09,063 --> 01:31:13,434 ON A PERSONAL NOTE, I AM A RARE 2047 01:31:13,501 --> 01:31:14,702 DISEASE DOCTOR. 2048 01:31:14,769 --> 01:31:16,671 WHEN I DID MY SURGICAL TRAINING 2049 01:31:16,737 --> 01:31:18,206 I CAME INTO CONTACT WITH A 2050 01:31:18,272 --> 01:31:20,908 BEAUTIFUL MAN WHO WAS SUFFERING 2051 01:31:20,975 --> 01:31:29,684 FROM TA RARE TUMOR SUSCEPTIBILIY 2052 01:31:29,750 --> 01:31:38,893 SYNDROME THAT CAUSES DUODENAL 2053 01:31:38,960 --> 01:31:39,727 CANCERS AND THIS WONDERFUL 2054 01:31:39,794 --> 01:31:42,330 GENTLEMAN I CARED FOR AS A 2055 01:31:42,396 --> 01:31:44,832 SENIOR RESIDENT WAS SUFFERING 2056 01:31:44,899 --> 01:31:47,535 FROM THE LATE STAGES OF 2057 01:31:47,602 --> 01:31:57,979 TREATMENT FOR DESMOID 2058 01:31:59,180 --> 01:32:01,115 DEMOYMA 2059 01:32:01,182 --> 01:32:01,582 DEMOYMATROSIS. 2060 01:32:01,649 --> 01:32:04,185 A DOCTOR IN COLORADO WAS 2061 01:32:04,252 --> 01:32:09,891 TREATING AN A PATIENT WITH THIS 2062 01:32:09,957 --> 01:32:12,026 DISEASE AND THEY LOOK LIKE AN 2063 01:32:12,093 --> 01:32:13,561 INFLAMMATORY REACTION AND 2064 01:32:13,628 --> 01:32:19,066 TREATED HIS PATIENT WITH A 2065 01:32:19,133 --> 01:32:20,034 NON-STEROIDAL ANTIINFLAMMATORY 2066 01:32:20,101 --> 01:32:22,937 DRUG AND DIDN'T DO A THING TO 2067 01:32:23,004 --> 01:32:28,476 THE DESMOID BUT ALL THEIR 2068 01:32:28,542 --> 01:32:31,212 INTESTINAL POLYPS WENT AWAY AND 2069 01:32:31,279 --> 01:32:36,150 HE TREATED A COUSIN AND THEN 2070 01:32:36,217 --> 01:32:40,721 THAT COUSIN'S AND GOT THE SAME 2071 01:32:40,788 --> 01:32:43,257 RESULT AND THE FIRST TIME THEY 2072 01:32:43,324 --> 01:32:44,725 SAW IT COWS INHIBIT INFLAMMATION 2073 01:32:44,792 --> 01:32:48,663 IN THE INTESTINE. 2074 01:32:48,729 --> 01:32:51,732 THAT'S WAS AN INSPIRATION TO ME 2075 01:32:51,799 --> 01:32:54,268 AND I JUST FINISHED MY POSTDOC 2076 01:32:54,335 --> 01:33:02,944 IN IMMUNOLOGY AND I STUDIED 2077 01:33:03,010 --> 01:33:07,515 FAMILIAL POLYPOSIS AND HOW IT 2078 01:33:07,581 --> 01:33:09,050 COULD REVERSE EFFECTS AND CARE 2079 01:33:09,116 --> 01:33:12,820 FOR FAMILIES WITH FAP. 2080 01:33:12,887 --> 01:33:14,221 LATER IN MY CAREER BECAUSE THERE 2081 01:33:14,288 --> 01:33:17,992 WERE MANY PEOPLE WHO TOOK CARE 2082 01:33:18,059 --> 01:33:21,162 OF PATIENTS WITH COLON CANCER 2083 01:33:21,228 --> 01:33:29,804 AND DODEAL CANCERS I TREATED 2084 01:33:29,870 --> 01:33:32,940 THESE TUMORS. 2085 01:33:33,007 --> 01:33:42,550 I SPENT MY BASIC SCIENCE CAREER 2086 01:33:42,616 --> 01:33:44,952 TAKING CARB OF THESE FAMILIES 2087 01:33:45,019 --> 01:33:55,429 WITH THIS RARE DISEASE. 2088 01:33:58,199 --> 01:34:00,968 AND HOW COURAGEOUS AND DEDICATED 2089 01:34:01,035 --> 01:34:04,505 ALL THOSE WONDERFUL PEOPLE WERE 2090 01:34:04,572 --> 01:34:09,710 IN HELPING US HAVE AN INCREDIBLE 2091 01:34:09,777 --> 01:34:11,579 UNDERSTANDING AND THIS IS THE 2092 01:34:11,645 --> 01:34:16,317 POINT, OF COMMON DISEASES. 2093 01:34:16,384 --> 01:34:17,985 WE KNOW THEY HAD IT BECAUSE OF A 2094 01:34:18,052 --> 01:34:21,122 GERM LINE MUTATION AND EVERYBODY 2095 01:34:21,188 --> 01:34:22,890 ELSE GETS IT AS A RESULT OF 2096 01:34:22,957 --> 01:34:24,725 OTHER SOMATIC INSULTS BUT 2097 01:34:24,792 --> 01:34:26,394 EVERYTHING WE LEARNED FROM 2098 01:34:26,460 --> 01:34:29,864 PEOPLE WITH FAP ENDED UP HELPING 2099 01:34:29,930 --> 01:34:31,265 EVERYBODY IN UNDERSTANDING HOW 2100 01:34:31,332 --> 01:34:33,134 TO TREAT A DEADLY CANCER. 2101 01:34:33,200 --> 01:34:34,635 I JUST THOUGHT I'D START WITH 2102 01:34:34,702 --> 01:34:36,971 THE RARE EXPERIENCE AND LET YOU 2103 01:34:37,038 --> 01:34:43,511 KNOW WHAT AN INCREDIBLE HONOR IT 2104 01:34:43,577 --> 01:34:45,579 IS TO WORK WITH THE RARE DISEASE 2105 01:34:45,646 --> 01:34:49,216 FAMILIES AND HOW FORTUNATE I AM 2106 01:34:49,283 --> 01:34:50,418 TO BE HERE TODAY. 2107 01:34:50,484 --> 01:34:52,019 OKAY, YOU PROBABLY KNOW RARE 2108 01:34:52,086 --> 01:34:53,554 DISEASES ARE COLLECTIVELY NOT 2109 01:34:53,621 --> 01:34:53,754 RARE. 2110 01:34:53,821 --> 01:34:56,223 I DON'T NEED TO TELL ALL OF YOU 2111 01:34:56,290 --> 01:34:56,657 THIS. 2112 01:34:56,724 --> 01:34:58,726 THEY ARE SO COMMON. 2113 01:34:58,793 --> 01:35:00,261 WE HAVE SO MUCH TO DO AND SO 2114 01:35:00,327 --> 01:35:05,766 MUCH TO LEARN TOGETHER TO MAKE 2115 01:35:05,833 --> 01:35:11,405 LIFE BETTER PEOPLE WITH RARE 2116 01:35:11,472 --> 01:35:14,809 DISEASES OFTEN STRUGGLE FOR 2117 01:35:14,875 --> 01:35:18,045 YEARS TO RECEIVE AN ACCURATE 2118 01:35:18,112 --> 01:35:19,413 DIAGNOSIS AND WHEN THEY DO THEY 2119 01:35:19,480 --> 01:35:20,448 FIND FEW TREATMENTS ARE 2120 01:35:20,514 --> 01:35:20,714 AVAILABLE. 2121 01:35:20,781 --> 01:35:23,984 LET'S TALK ABOUT LINKING THE 2122 01:35:24,051 --> 01:35:26,353 DIAGNOSIS AND LINKING TO 2123 01:35:26,420 --> 01:35:27,588 TREATMENTS AND LINKING TO 2124 01:35:27,655 --> 01:35:29,256 OPPORTUNITIES FOR RESEARCH. 2125 01:35:29,323 --> 01:35:32,226 I WILL ALSO TELL YOU ONE OF THE 2126 01:35:32,293 --> 01:35:35,529 THINGS CERTAINLY NOT PUBLIC YET 2127 01:35:35,596 --> 01:35:37,998 THAT I AM ALSO DEDICATED TO DO, 2128 01:35:38,065 --> 01:35:40,701 I WANT TO MAKE IT POSSIBLE FOR 2129 01:35:40,768 --> 01:35:42,369 EVERY SINGLE PERSON WHO WALKS 2130 01:35:42,436 --> 01:35:46,173 INTO A CLINIC AND INTO A 2131 01:35:46,240 --> 01:35:48,042 DOCTOR'S OFFICE, ANY LOCATION 2132 01:35:48,109 --> 01:35:50,945 WITH AN ELECTRONIC HEATH RECORD 2133 01:35:51,011 --> 01:35:52,113 IN THE UNITED STATES TO BE ABLE 2134 01:35:52,179 --> 01:35:55,015 TO SAY, I GIVE MY PERMISSION FOR 2135 01:35:55,082 --> 01:35:58,352 MY DATA TO USE FOR RESEARCH AND 2136 01:35:58,419 --> 01:36:01,922 MORE IMPORTANT, I WANT YOU TO 2137 01:36:01,989 --> 01:36:02,957 RECONTACT ME IF SOMETHING 2138 01:36:03,023 --> 01:36:08,929 RELEVANT TO ME OR MY FAMILY 2139 01:36:08,996 --> 01:36:15,603 BECOMES AVAILABLE. 2140 01:36:15,669 --> 01:36:17,905 TO HAVE THAT AVAILABLE TO THE 2141 01:36:17,972 --> 01:36:18,439 ENTIRE CLINICAL CARE AND 2142 01:36:18,506 --> 01:36:21,108 RESEARCH COMMUNITY TO BE ABLE TO 2143 01:36:21,175 --> 01:36:23,010 IDENTIFY PEOPLE WHO ARE REACHING 2144 01:36:23,077 --> 01:36:25,146 OUT BECAUSE THEY HAVE A SPECIAL 2145 01:36:25,212 --> 01:36:27,414 NEED. 2146 01:36:27,481 --> 01:36:29,416 AND THINK ABOUT WHAT THIS WOULD 2147 01:36:29,483 --> 01:36:30,751 DO FOR THE RARE DISEASE 2148 01:36:30,818 --> 01:36:32,453 COMMUNITY AND NIH, FOR INSTANCE, 2149 01:36:32,520 --> 01:36:39,059 WOULD SAY WE HAVE A BRAND NEW 2150 01:36:39,126 --> 01:36:44,732 PROTOCOL FOR DUCHESNE'S MUSCULAR 2151 01:36:44,798 --> 01:36:45,866 DYSTROPHY AND PEOPLE SAID YES, I 2152 01:36:45,933 --> 01:36:48,269 WANT YOU TO LET ME KNOW WHAT'S 2153 01:36:48,335 --> 01:36:49,603 GOING ON. 2154 01:36:49,670 --> 01:36:52,206 I'LL FINISH BY SAYING AMAZON 2155 01:36:52,273 --> 01:36:55,676 KNOWS WHAT KIND OF SHAMPOO I USE 2156 01:36:55,743 --> 01:36:57,411 FOR CRYING OUT LOUD, WHY CAN'T 2157 01:36:57,478 --> 01:36:59,580 WE MAKE IT POSSIBLE FOR THOSE 2158 01:36:59,647 --> 01:37:01,715 PEOPLE WHO NEED US TO STAND UP 2159 01:37:01,782 --> 01:37:12,193 AND SAY, HEY, I'M HERE? 2160 01:37:14,061 --> 01:37:14,929 OKAY, THANK YOU FOR THAT AND I 2161 01:37:14,995 --> 01:37:19,233 HOPE TO MOVE THIS IT'S MY BIG 2162 01:37:19,300 --> 01:37:21,068 AGENDA AS DIRECT AND WE'RE 2163 01:37:21,135 --> 01:37:22,336 GETTING HELP ACROSS HEALTH AND 2164 01:37:22,403 --> 01:37:23,137 HUMAN SERVICES. 2165 01:37:23,204 --> 01:37:25,573 IT WILL PUSH HARD AND WE NEED 2166 01:37:25,639 --> 01:37:26,941 SOME TWEAKS IN LEGISLATION FROM 2167 01:37:27,007 --> 01:37:30,978 CONGRESS TO MAKE IT MANDATORY 2168 01:37:31,045 --> 01:37:32,880 BUT WE'RE DETERMINED. 2169 01:37:32,947 --> 01:37:35,482 OKAY, A FEW FINISHING COMMENTS. 2170 01:37:35,549 --> 01:37:36,550 AT NIH WE'RE COMMITTED TO TAKING 2171 01:37:36,617 --> 01:37:37,518 ON THE CHALLENGE OF RARE 2172 01:37:37,585 --> 01:37:44,491 DISEASES. 2173 01:37:44,558 --> 01:37:46,894 ONE OF MY GUIDING PRINCIPLES I 2174 01:37:46,961 --> 01:37:49,530 TOLD YOU ABOUT MY OWN 2175 01:37:49,597 --> 01:37:51,565 RELATIONSHIP WITH PEOPLE WHO ARE 2176 01:37:51,632 --> 01:37:52,900 LIVING WITH RARE DISEASE IS THAT 2177 01:37:52,967 --> 01:37:58,806 WHEN IT COMES TO RESEARCH, WE 2178 01:37:58,872 --> 01:38:01,442 CAN DO NOTHING POUT THE PEOPLE 2179 01:38:01,508 --> 01:38:03,811 WE SERVE. 2180 01:38:03,877 --> 01:38:06,947 NOTHING ABOUT US WITHOUT US THIS 2181 01:38:07,014 --> 01:38:07,848 FROM THE ADVOCATE COMMUNITY IS A 2182 01:38:07,915 --> 01:38:11,852 GUIDING PRINCIPLE FOR US. 2183 01:38:11,919 --> 01:38:13,153 CERTAINLY FOR ME PERSONALLY AND 2184 01:38:13,220 --> 01:38:17,758 FOR US. 2185 01:38:17,825 --> 01:38:20,427 YOU NEED TO BE AT THE TABLE FOR 2186 01:38:20,494 --> 01:38:20,728 EVERYTHING. 2187 01:38:20,794 --> 01:38:22,129 THE PATIENT COMMUNITY IS A 2188 01:38:22,196 --> 01:38:24,498 CRITICAL PART AND THE PATIENT -- 2189 01:38:24,565 --> 01:38:29,236 REMEMBER, WHEN I TALK ABOUT THE 2190 01:38:29,303 --> 01:38:30,471 PATIENT COMMUNITY I DON'T OFTEN 2191 01:38:30,537 --> 01:38:32,273 REMEMBER TO SAY IT BUT THE MOMS 2192 01:38:32,339 --> 01:38:34,408 AND DAD AND SISTERS AND BROTHERS 2193 01:38:34,475 --> 01:38:37,111 AND COMMUNITY MEMBERS AND ALL 2194 01:38:37,177 --> 01:38:41,081 THOSE OTHER PEOPLE WHO MIGHT NOT 2195 01:38:41,148 --> 01:38:44,985 HAVE THE DISEASE BUT THEY'RE 2196 01:38:45,052 --> 01:38:45,619 INCREDIBLY CRITICAL PART OF THE 2197 01:38:45,686 --> 01:38:55,863 COMMUNITY. 2198 01:38:58,332 --> 01:39:00,301 REMEMBER, I ENCOMPASS THE 2199 01:39:00,367 --> 01:39:02,136 CAREGIVERS OF ALL TYPES IN THAT 2200 01:39:02,202 --> 01:39:02,436 DISCUSSION. 2201 01:39:02,503 --> 01:39:05,139 NIH IS DOING SOME THINGS WE 2202 01:39:05,205 --> 01:39:09,276 THINK ARE STARTING TO CRACK SOME 2203 01:39:09,343 --> 01:39:09,677 CODES. 2204 01:39:09,743 --> 01:39:14,381 ONE, IS TO ENGAGE THE PATIENT 2205 01:39:14,448 --> 01:39:18,252 COMMUNITY WRIT LARGE THROUGH THE 2206 01:39:18,319 --> 01:39:20,788 RARES CLINICAL NETWORK AND 10 OF 2207 01:39:20,854 --> 01:39:23,324 THE INSTITUTES AND CENTERS 2208 01:39:23,390 --> 01:39:25,159 PARTICIPATE IN THIS NETWORK 2209 01:39:25,225 --> 01:39:27,294 RIGHT NOW WHICH CONNECTS 2210 01:39:27,361 --> 01:39:28,862 SCIENTIST TO RARE DISEASE 2211 01:39:28,929 --> 01:39:29,596 ORGANIZATIONS AND PATIENT 2212 01:39:29,663 --> 01:39:31,632 ADVOCACY GROUPS, HOPING TO GET 2213 01:39:31,699 --> 01:39:31,999 ALL. 2214 01:39:32,066 --> 01:39:34,902 COMMUNICATION AND NETWORKING IS 2215 01:39:34,968 --> 01:39:35,369 KEY. 2216 01:39:35,436 --> 01:39:36,737 NIH ALSO SUPPORTS THE 2217 01:39:36,804 --> 01:39:39,173 ACCELERATING MEDICINES 2218 01:39:39,239 --> 01:39:40,174 PARTNERSHIP, BESPOKE GENE 2219 01:39:40,240 --> 01:39:43,544 THERAPY CONSORTIUM. 2220 01:39:43,610 --> 01:39:45,112 I KNOW WE'RE ALL LOOKING FOR THE 2221 01:39:45,179 --> 01:39:46,914 NEW PLATFORMS, THE NEW 2222 01:39:46,980 --> 01:39:48,315 APPROACHES, THE NEW ATTORNEY 2223 01:39:48,382 --> 01:39:53,354 GENERALS THAT ARE GOING TO START 2224 01:39:53,420 --> 01:40:02,596 TO YEEL -- REALLY MOVE THE 2225 01:40:02,663 --> 01:40:07,501 NEEDLE AND HAVE A SINGLE 2226 01:40:07,568 --> 01:40:12,172 MUTATION DEFECT AND WE'RE PROUD 2227 01:40:12,239 --> 01:40:15,542 TO BE PART OF A PROGRAM THAT'S A 2228 01:40:15,609 --> 01:40:17,244 PARTNERSHIP BETWEEN NIH, 2229 01:40:17,311 --> 01:40:20,681 INDUSTRY, PHARMACEUTICALS AND 2230 01:40:20,748 --> 01:40:25,119 MULTIPLE OTHER NON-PROFIT AND 2231 01:40:25,185 --> 01:40:26,987 PROFESSIONAL ORGANIZATIONS TO 2232 01:40:27,054 --> 01:40:32,893 MOVE FORWARD BESPOKE GENE 2233 01:40:32,960 --> 01:40:35,496 THERAPIES FOR EACH GENETIC 2234 01:40:35,562 --> 01:40:40,267 DEFECT THAT CAN PRODUCE DISEASE. 2235 01:40:40,334 --> 01:40:40,868 THIS IS ACTIVELY WORKING TO 2236 01:40:40,934 --> 01:40:42,302 ADVANCE TREATMENT THERAPIES FOR 2237 01:40:42,369 --> 01:40:42,770 EIGHT RARE DISEASES. 2238 01:40:42,836 --> 01:40:45,506 THAT IS JUST THE TIP OF THE 2239 01:40:45,572 --> 01:40:45,739 ICEBERG. 2240 01:40:45,806 --> 01:40:46,673 WE HOPE TO SEE MANY MANY MORE 2241 01:40:46,740 --> 01:40:56,850 SOON. 2242 01:41:07,261 --> 01:41:08,162 WE'RE NOT DONE. 2243 01:41:08,228 --> 01:41:10,063 WE HAVE SO MUCH MORE TO DO. 2244 01:41:10,130 --> 01:41:12,566 WE'LL CONTINUE TO LOOK FOR WAYS 2245 01:41:12,633 --> 01:41:14,234 TO WORK WITH EVERYONE IT TAKES 2246 01:41:14,301 --> 01:41:14,835 AS RESEARCH PARTNERS TO MAKE 2247 01:41:14,902 --> 01:41:20,340 LIFE BETTER. 2248 01:41:20,407 --> 01:41:22,743 EQUITY IS THE THEME OF RARE 2249 01:41:22,810 --> 01:41:24,678 DISEASE DAY 2024 NATIONALLY AND 2250 01:41:24,745 --> 01:41:32,653 SOMETHING WE ALSO ABS -- 2251 01:41:32,719 --> 01:41:34,455 ABSOLUTELY CANNOT FORGET. 2252 01:41:34,521 --> 01:41:38,225 I CAN'T FORGET THE PATIENTS WHO 2253 01:41:38,292 --> 01:41:40,093 SAW ME AT THE MAJOR CENTERS IN 2254 01:41:40,160 --> 01:41:43,664 BOSTON AND I HAD SOME THAT HAD 2255 01:41:43,730 --> 01:41:44,765 FUND RAISERS TO FLY TO BOSTON TO 2256 01:41:44,832 --> 01:41:47,468 SEE ME FOR THEIR CARE. 2257 01:41:47,534 --> 01:41:49,436 THAT'S TOUGH. 2258 01:41:49,503 --> 01:41:51,138 THAT'S REALLY TOUGH. 2259 01:41:51,205 --> 01:41:53,106 WHEN YOU THINK ABOUT THE ENTIRE 2260 01:41:53,173 --> 01:41:55,342 MEDICAL SYSTEM, PEOPLE WITH RARE 2261 01:41:55,409 --> 01:41:57,744 DISEASES HAVE TO GO WHERE THE 2262 01:41:57,811 --> 01:41:59,913 SPECIAL EXPERTS ARE AND SO IT 2263 01:41:59,980 --> 01:42:03,350 CAN BE RECOGNIZING THE DOUBLE 2264 01:42:03,417 --> 01:42:04,384 CHALLENGE. 2265 01:42:04,451 --> 01:42:06,787 EQUITY IS OUR THEME THIS YEAR 2266 01:42:06,854 --> 01:42:08,489 AND BY EQUITY WE MEAN WE HAVE TO 2267 01:42:08,555 --> 01:42:11,158 BE PART OF THE SOLUTION 2268 01:42:11,225 --> 01:42:13,227 INVOLVING THE PROBLEMS FOR THOSE 2269 01:42:13,293 --> 01:42:14,428 INDIVIDUAL WHO'S NEED EXTRA HELP 2270 01:42:14,495 --> 01:42:15,929 GETTING WHERE THE EXPERTS ARE. 2271 01:42:15,996 --> 01:42:19,299 I'LL CALL OUT AGAIN OUR CLINICAL 2272 01:42:19,366 --> 01:42:20,501 CENTER. 2273 01:42:20,567 --> 01:42:22,002 I THINK WORLDWIDE TREASURE IN 2274 01:42:22,069 --> 01:42:24,071 THIS REGARD WHEN WE HAVE 2275 01:42:24,137 --> 01:42:26,440 PROTOCOLS HERE FOR PATIENTS OF 2276 01:42:26,507 --> 01:42:27,074 ALL KINDS. 2277 01:42:27,140 --> 01:42:28,976 OF COURSE WITH A HUGE FOCUS ON 2278 01:42:29,042 --> 01:42:30,777 RARE DISEASES, WE CAN MAKE IT 2279 01:42:30,844 --> 01:42:32,980 POSSIBLE FOR THEM TO COME AND 2280 01:42:33,046 --> 01:42:33,547 RECEIVE THEIR CARE FREE OF 2281 01:42:33,614 --> 01:42:35,816 CHARGE. 2282 01:42:35,883 --> 01:42:37,351 OBVIOUSLY THIS DEPENDS ON OUR 2283 01:42:37,417 --> 01:42:40,020 FEDERAL FUNDING AND ON THE 2284 01:42:40,087 --> 01:42:41,121 AVAILABILITY OF RESEARCH 2285 01:42:41,188 --> 01:42:44,124 PROJECTS BUT WE WILL REMAIN 2286 01:42:44,191 --> 01:42:48,095 DEDICATED TO THIS AND TAKE THIS 2287 01:42:48,161 --> 01:42:48,629 AS FAR AS WE POSSIBLY CAN. 2288 01:42:48,695 --> 01:42:58,805 OKAY. 2289 01:43:00,574 --> 01:43:01,942 WE NEED TO DISCOVER NEW 2290 01:43:02,009 --> 01:43:03,744 TREATMENTS AND HOW TO MAKE THEM 2291 01:43:03,810 --> 01:43:09,016 WIDELY AVAILABLE TO EVERYONE WHO 2292 01:43:09,082 --> 01:43:11,051 NEEDS THEM. 2293 01:43:11,118 --> 01:43:13,153 SICKLE CELL DISEASE WOW. 2294 01:43:13,220 --> 01:43:20,627 NOT GOOD ENOUGH YET. 2295 01:43:20,694 --> 01:43:22,062 ALMOST A YEAR IN THE HOSPITAL 2296 01:43:22,129 --> 01:43:23,397 AND CHALLENGING TREATMENT AND I 2297 01:43:23,463 --> 01:43:28,168 KNOW FOR THE SPECIAL PEOPLE WHO 2298 01:43:28,235 --> 01:43:28,936 HAVE SICKLE CELL DISEASE IT'S 2299 01:43:29,002 --> 01:43:31,171 WORTH IT WHEN YOU THINK OF THE 2300 01:43:31,238 --> 01:43:33,574 SUFFERING WITH THE DISEASE BUT 2301 01:43:33,640 --> 01:43:34,274 IT'S STILL WAY TOO MUCH TO 2302 01:43:34,341 --> 01:43:35,542 RECEIVE TREATMENT FOR THE 2303 01:43:35,609 --> 01:43:35,776 DISEASE. 2304 01:43:35,842 --> 01:43:37,377 IT'S THE BEGINNING. 2305 01:43:37,444 --> 01:43:40,781 WE'RE DETERMINED FOR THAT TO BE 2306 01:43:40,847 --> 01:43:42,649 AVAILABLE TO EVERYBODY AND 2307 01:43:42,716 --> 01:43:43,984 NUMBER TWO, SO MUCH BETTER THAN 2308 01:43:44,051 --> 01:43:44,918 IT IS TODAY. 2309 01:43:44,985 --> 01:43:47,888 WE HAVE A BREAKTHROUGH, NOW 2310 01:43:47,955 --> 01:43:48,622 LET'S RUN WITH IT AND MAKE THAT 2311 01:43:48,689 --> 01:43:53,093 BETTER. 2312 01:43:53,160 --> 01:43:56,597 I'M GOING TO END BY SAYING THAT 2313 01:43:56,663 --> 01:43:57,564 WE INTEGRATE RARE DISEASE 2314 01:43:57,631 --> 01:44:00,267 RESEARCH AND TREATMENT INTO ALL 2315 01:44:00,334 --> 01:44:01,835 OF OUR BROADER HEATH 2316 01:44:01,902 --> 01:44:02,235 INITIATIVES. 2317 01:44:02,302 --> 01:44:04,838 WE REMIND PEOPLE THAT THE 2318 01:44:04,905 --> 01:44:08,642 LEARNING WE GET FROM THE RARE 2319 01:44:08,709 --> 01:44:11,044 DISEASE COMMUNITY LIKE THAT OF 2320 01:44:11,111 --> 01:44:16,216 PATIENTS WITH FAP HELP 2321 01:44:16,283 --> 01:44:16,917 EVERYBODY. 2322 01:44:16,984 --> 01:44:18,352 SO THERE ARE ENUMERABLE REASONS 2323 01:44:18,418 --> 01:44:19,286 TO FOCUS ON TAKING ON THESE 2324 01:44:19,353 --> 01:44:24,691 CHALLENGES. 2325 01:44:24,758 --> 01:44:27,995 FINALLY, MY SLOGAN AS NIH 2326 01:44:28,061 --> 01:44:29,296 DIRECTOR IS THE FOLLOWING. 2327 01:44:29,363 --> 01:44:32,299 OUR WORK AT NIH IS NOT FINISHED 2328 01:44:32,366 --> 01:44:35,802 WHEN WE MAKE SCIENTIFIC 2329 01:44:35,869 --> 01:44:36,103 DISCOVERIES. 2330 01:44:36,169 --> 01:44:39,339 OUR WORK AT NIH IS ONLY FINISHED 2331 01:44:39,406 --> 01:44:41,341 WHEN ALL PEOPLE ARE LIVING LONG 2332 01:44:41,408 --> 01:44:44,378 AND HEALTHY LIVES. 2333 01:44:44,444 --> 01:44:47,014 SO, THANK YOU FOR BEING OUR 2334 01:44:47,080 --> 01:44:51,151 PARTNERS IN MAKING THIS HOPE A 2335 01:44:51,218 --> 01:44:53,620 REALITY AND I HOPE YOU ENJOY 2336 01:44:53,687 --> 01:44:54,621 THIS WONDERFUL DAY PUT TOGETHER 2337 01:44:54,688 --> 01:44:55,789 BY OUR FOLKS AT NCATS AND THE 2338 01:44:55,856 --> 01:44:57,024 CLINICAL CENTER. 2339 01:44:57,090 --> 01:45:07,267 THANK YOU. 2340 01:45:31,925 --> 01:45:32,859 >> ALL RIGHT, MOVING ALONG WE 2341 01:45:32,926 --> 01:45:34,528 HAVE OUR FIRST SESSION OF THE 2342 01:45:34,594 --> 01:45:36,663 DAY, LIKED TO INTRODUCE OUR 2343 01:45:36,730 --> 01:45:41,935 MODERATOR FOR THE SESSION, 2344 01:45:42,002 --> 01:45:49,109 CHRISTINE CUTILLO WITHIN THE 2345 01:45:49,176 --> 01:45:54,881 OFFICE OF THE DIRECTOR AT NIH. 2346 01:45:54,948 --> 01:45:57,017 >> HI, ALL. 2347 01:45:57,084 --> 01:45:58,285 IT'S GREAT TO BE HERE TODAY. 2348 01:45:58,351 --> 01:46:01,555 I'M CHRISTINE CUTILLO AND HEALTH 2349 01:46:01,621 --> 01:46:04,124 DATA SCIENTIST FOR A.I. ETHICS 2350 01:46:04,191 --> 01:46:05,992 IN THE OFFICE DATA SCIENCE 2351 01:46:06,059 --> 01:46:09,029 STRATEGY FOR ODSS. 2352 01:46:09,096 --> 01:46:11,164 IT'S PART OF THE OFFICE OF THE 2353 01:46:11,231 --> 01:46:11,631 DIRECTOR. 2354 01:46:11,698 --> 01:46:14,067 WE WORK WITH ALL 27 INSTITUTES 2355 01:46:14,134 --> 01:46:17,137 AND CENTERS AND LOOK ACROSS THE 2356 01:46:17,204 --> 01:46:20,440 FULL WATERFRONT OF THE NIH 2357 01:46:20,507 --> 01:46:21,341 MISSION SPACE. 2358 01:46:21,408 --> 01:46:23,877 THERE'S MANY A.I. ACTIVITIES 2359 01:46:23,944 --> 01:46:24,277 ACROSS NIN. 2360 01:46:24,344 --> 01:46:27,047 AND ODSS TRIES TO FIND WAYS TO 2361 01:46:27,114 --> 01:46:28,548 LIFT ALL BOATS IN THE SPACE. 2362 01:46:28,615 --> 01:46:31,485 ONE OF OUR FOCUS AREAS IS 2363 01:46:31,551 --> 01:46:33,520 ENHANCING TRANSPARENCY ACROSS 2364 01:46:33,587 --> 01:46:37,224 THE ECO SYSTEM FOR DATA AND 2365 01:46:37,290 --> 01:46:37,624 MODEL DEVELOPMENT. 2366 01:46:37,691 --> 01:46:39,960 AS A FIRST STEP TOWARDS BUILDING 2367 01:46:40,026 --> 01:46:42,095 RESPONSIBLE AND ETHICAL A.I. 2368 01:46:42,162 --> 01:46:43,363 PRACTICES. 2369 01:46:43,430 --> 01:46:44,531 ENHANCING TRANSPARENCY COULD 2370 01:46:44,598 --> 01:46:47,067 HELP PATIENTS AND PROVIDERS 2371 01:46:47,134 --> 01:46:49,903 ANSWER QUESTIONS LIKE HOW WELL 2372 01:46:49,970 --> 01:46:51,171 DOES THIS A.I. DIAGNOSTIC TOOL 2373 01:46:51,238 --> 01:46:55,108 PERFORM FOR PATIENTS LIKE ME. 2374 01:46:55,175 --> 01:46:55,776 TRANSPARENCY IS ALSO A FIRST 2375 01:46:55,842 --> 01:46:58,145 STEP TO ENCOURAGING AND HELPING 2376 01:46:58,211 --> 01:47:00,213 RESEARCHERS WANTING TO MAKE A.I. 2377 01:47:00,280 --> 01:47:01,848 TOOLS MORE INCLUSIVE AND 2378 01:47:01,915 --> 01:47:03,016 EQUITABLE. 2379 01:47:03,083 --> 01:47:04,785 WHAT WE DON'T STOP THERE. 2380 01:47:04,851 --> 01:47:06,253 MYSELF AND THE WHOLE PANEL ARE 2381 01:47:06,319 --> 01:47:06,920 EXCITED TO SPEAK WITH YOU ABOUT 2382 01:47:06,987 --> 01:47:09,422 THAT NOW. 2383 01:47:09,489 --> 01:47:11,191 FIRST, YOU'LL HEAR ABOUT A.I. AT 2384 01:47:11,258 --> 01:47:18,465 A HIGH LEVEL AND HOW IT CAN BE 2385 01:47:18,532 --> 01:47:20,133 LEVERAGED TO BENEFIT PATIENTS 2386 01:47:20,200 --> 01:47:22,202 AND YOU'LL HEAR ABOUT PROJECTS 2387 01:47:22,269 --> 01:47:25,839 AIMED AT REDUCING THE DIAGNOSTIC 2388 01:47:25,906 --> 01:47:27,040 ODYSSEY, IDENTIFYING PATIENTS 2389 01:47:27,107 --> 01:47:28,275 FOR CLINICAL TRIALS AND BUILDING 2390 01:47:28,341 --> 01:47:30,377 TOOLS FOR REPURPOSING DRUGS. 2391 01:47:30,443 --> 01:47:31,545 AFTERWARD, WE'LL HAVE A Q&A 2392 01:47:31,611 --> 01:47:33,046 PANEL DISCUSSION AND YOU'LL BE 2393 01:47:33,113 --> 01:47:34,381 ABLE TO ASK QUESTIONS. 2394 01:47:34,447 --> 01:47:37,384 SO NOW I'D LIKE TO INTRODUCE OUR 2395 01:47:37,450 --> 01:47:39,920 FIRST PANELIST TODAY, KIM MORAN 2396 01:47:39,986 --> 01:47:42,722 IS THE HEAD OF U.S. RARE 2397 01:47:42,789 --> 01:47:50,230 DISEASES AT UBC. 2398 01:47:50,297 --> 01:48:00,574 COME ON UP, KIM. 2399 01:48:17,257 --> 01:48:19,359 GO 2400 01:48:19,426 --> 01:48:21,061 >> GOOD MORNING, EVERYONE. 2401 01:48:21,127 --> 01:48:23,530 CAN WE DO THAT AGAIN? 2402 01:48:23,597 --> 01:48:24,464 GOOD MORNING, EVERYONE. 2403 01:48:24,531 --> 01:48:26,600 THANK YOU FOR NCATS FOR THIS DAY 2404 01:48:26,666 --> 01:48:28,001 AND WE'RE CELEBRATING THE WORLD 2405 01:48:28,068 --> 01:48:34,875 OF RARE DISEASE. 2406 01:48:34,941 --> 01:48:38,078 TODAY MY JOB IS TO HELP 2407 01:48:38,144 --> 01:48:38,979 DEMYSTIFY ARTIFICIAL 2408 01:48:39,045 --> 01:48:39,312 INTELLIGENCE. 2409 01:48:39,379 --> 01:48:41,982 MY MOM'S NAME IS CINDY SO WE'RE 2410 01:48:42,048 --> 01:48:43,650 GOING TO USE THE CINDY FACTOR 2411 01:48:43,717 --> 01:48:46,720 AND TRY TO BRING A.I. DOWN SO WE 2412 01:48:46,786 --> 01:48:48,955 CAN ALL UNDERSTAND IT NOT BE SO 2413 01:48:49,022 --> 01:48:49,956 SCARED OF IT THOUGH IT IS A 2414 01:48:50,023 --> 01:48:51,691 LITTLE SCARY WHEN YOU LOOK AT 2415 01:48:51,758 --> 01:48:59,232 SOME OF THE DEFINITIONS. 2416 01:48:59,299 --> 01:49:04,571 WHAT IS A.I.? 2417 01:49:04,638 --> 01:49:05,272 ARTIFICIAL INTELLIGENCE I FOUND 2418 01:49:05,338 --> 01:49:07,707 IT BY GOOGLING. 2419 01:49:07,774 --> 01:49:12,312 IT'S A MACHINE'S ABILITY TO 2420 01:49:12,379 --> 01:49:14,080 PERFORM THE COGNITIVE FUNCTIONS 2421 01:49:14,147 --> 01:49:15,282 WE USUALLY ASSOCIATE WITH HUMAN 2422 01:49:15,348 --> 01:49:23,456 MINDS. 2423 01:49:23,523 --> 01:49:24,324 IS THAT SCARY? 2424 01:49:24,391 --> 01:49:25,759 YES AND FASCINATING TOO. 2425 01:49:25,825 --> 01:49:32,165 LET'S BREAK IT DOWN. 2426 01:49:32,232 --> 01:49:37,137 THERE'S A FIELD OF ARTIFICIAL 2427 01:49:37,203 --> 01:49:40,140 INTELLIGENCE AND BELOW THAT A 2428 01:49:40,206 --> 01:49:43,109 TOPIC OF MACHINE LEARNING AND 2429 01:49:43,176 --> 01:49:45,045 USE MATH TO LOOK FOR PATTERNS 2430 01:49:45,111 --> 01:49:47,847 AND USE COMPUTER TO DO THINGS 2431 01:49:47,914 --> 01:49:52,118 HUMANS DON'T NEED TO DO LIKE THE 2432 01:49:52,185 --> 01:49:52,719 CALCUL 2433 01:49:52,786 --> 01:49:53,019 CALCULATOR. 2434 01:49:53,086 --> 01:49:59,025 WE HAVE ALEXA AND SYRI IN OUR 2435 01:49:59,092 --> 01:50:00,927 HOMES FOR ENABLING OUR LIVES BUT 2436 01:50:00,994 --> 01:50:05,031 IT GETS SCARY WHEN A COMPUTER IS 2437 01:50:05,098 --> 01:50:08,001 RECOMMENDING THINGS ABOUT YOUR 2438 01:50:08,068 --> 01:50:09,302 HEALTH CARE, YOUR DIAGNOSIS. 2439 01:50:09,369 --> 01:50:16,309 HOW CAN WE USE A.I. FOR GOOD? 2440 01:50:16,376 --> 01:50:16,910 DATA. 2441 01:50:16,977 --> 01:50:19,946 HEALTH CARE IS ONE OF THE 2442 01:50:20,013 --> 01:50:21,081 RICHEST DATA ENABLERS IN THE 2443 01:50:21,147 --> 01:50:21,514 WORLD. 2444 01:50:21,581 --> 01:50:25,752 SO HOW CAN WE UNLOCK THE SECRETS 2445 01:50:25,819 --> 01:50:28,922 OF HUNDREDS OF THOUSAND OF 2446 01:50:28,989 --> 01:50:30,890 MILLIONS OF BILLIONS DATA POINTS 2447 01:50:30,957 --> 01:50:33,093 TO CREATE A BETTER EXPERIENCE 2448 01:50:33,159 --> 01:50:38,798 SPECIFICALLY FOR RARE DISEASE? 2449 01:50:38,865 --> 01:50:40,767 THE MATH COMPONENT. 2450 01:50:40,834 --> 01:50:41,568 IF YOU LOOK AT MACHINE LEARNING 2451 01:50:41,634 --> 01:50:44,004 THEY USE ALGORITHMS TO DETECT 2452 01:50:44,070 --> 01:50:45,305 PATTERNS IN PILES AND PILES OF 2453 01:50:45,372 --> 01:50:46,473 DATA. 2454 01:50:46,539 --> 01:50:49,442 THIS HAPPENS EVERY DAY IN OUR 2455 01:50:49,509 --> 01:50:50,410 LIVES. 2456 01:50:50,477 --> 01:50:52,245 I'M SURE THERE'S A LOT OF 2457 01:50:52,312 --> 01:50:56,249 NETFLIX SUN -- SUBSCRIBERS. 2458 01:50:56,316 --> 01:50:58,218 YOU SEE THE SUGGESTIONS FOR YOU. 2459 01:50:58,284 --> 01:51:00,186 THEY TAKE ALL THE USERS THAT ARE 2460 01:51:00,253 --> 01:51:02,188 LOOKING AT ALL THE DIFFERENT 2461 01:51:02,255 --> 01:51:03,723 FILMS AND THEN LOOKING AND DOING 2462 01:51:03,790 --> 01:51:09,095 WHAT IS KNOWN AS A LOOK ALIKE 2463 01:51:09,162 --> 01:51:10,196 ANALYSIS. 2464 01:51:10,263 --> 01:51:11,564 BUT YOU SEE YOUR SUGGESTIONS 2465 01:51:11,631 --> 01:51:13,833 CHANGE WEEKLY, MONTHLY, DAILY. 2466 01:51:13,900 --> 01:51:19,005 SO WHY IS THAT HAPPENING? 2467 01:51:19,072 --> 01:51:20,373 THE DATA'S CHANGING. 2468 01:51:20,440 --> 01:51:22,976 WE HAVE THE MATH AND THE DATA. 2469 01:51:23,043 --> 01:51:24,544 THE DATA IN HEALTH CARE, YOUR 2470 01:51:24,611 --> 01:51:25,545 PERSONAL RECORDS. 2471 01:51:25,612 --> 01:51:28,281 EVERY TIME YOU DING THE HEALTH 2472 01:51:28,348 --> 01:51:29,816 CARE SYSTEM. 2473 01:51:29,883 --> 01:51:31,785 I WENT TO CVS AND PICKED UP A 2474 01:51:31,851 --> 01:51:32,018 SCRIPT. 2475 01:51:32,085 --> 01:51:34,921 I WENT TO MY DOCTOR AND THEY RAN 2476 01:51:34,988 --> 01:51:36,756 X, Y AND Z. 2477 01:51:36,823 --> 01:51:41,694 ALL THOSE DATA POINTS TIMES THE 2478 01:51:41,761 --> 01:51:42,028 MI 2479 01:51:42,095 --> 01:51:42,729 MILLIONS OF PEOPLE IN THE UNITED 2480 01:51:42,796 --> 01:51:44,564 STATES GROWS BY THE SECOND. 2481 01:51:44,631 --> 01:51:46,099 IT'S A BALANCE BETWEEN THE MATH 2482 01:51:46,166 --> 01:51:47,667 LEARNING THE DATA PILES AND THE 2483 01:51:47,734 --> 01:51:49,102 DATA PILE GETTING BIGGER AND 2484 01:51:49,169 --> 01:51:59,312 BIGGER. 2485 01:52:01,181 --> 01:52:06,219 SO WHAT ARE THE EXCITING THINGS? 2486 01:52:06,286 --> 01:52:07,320 WE'RE LEARNING MORE ABOUT THE 2487 01:52:07,387 --> 01:52:13,126 DIAGNOSTIC ODD SPIP THIS SIMPLE 2488 01:52:13,193 --> 01:52:15,728 LINE IS LAYERS OF DATA LOOKING 2489 01:52:15,795 --> 01:52:17,330 FOR KEY POINTS IN A PATIENT'S 2490 01:52:17,397 --> 01:52:26,072 JOURNEY. 2491 01:52:26,139 --> 01:52:29,109 THINK OF THE SYSTEMS AND THE 2492 01:52:29,175 --> 01:52:32,112 FIRST SEIZURE AND CLINICAL 2493 01:52:32,178 --> 01:52:32,345 EVENT. 2494 01:52:32,412 --> 01:52:33,780 THERE'S TO MANY SYMPTOMS THAT 2495 01:52:33,847 --> 01:52:36,216 OCCUR WE DON'T ALWAYS AS LAY 2496 01:52:36,282 --> 01:52:37,550 PEOPLE ALWAYS UNDERSTAND OR EVEN 2497 01:52:37,617 --> 01:52:43,189 NOTE. 2498 01:52:43,256 --> 01:52:45,525 WHAT IF THE SYMPTOMS WERE 2499 01:52:45,592 --> 01:52:47,527 REPORTED EARLIER OR WERE ABLE TO 2500 01:52:47,594 --> 01:52:50,396 CAPTURE THEM QUICKER? 2501 01:52:50,463 --> 01:52:51,598 COULD THE MACHINE LEARNING 2502 01:52:51,664 --> 01:52:53,766 EVENTS BE ABLE TO DETECT THINGS 2503 01:52:53,833 --> 01:52:54,100 EARLIER. 2504 01:52:54,167 --> 01:52:56,236 SEND A FLAG TO A PHYSICIAN? 2505 01:52:56,302 --> 01:53:05,311 EVEN A NOTIFICATION TO YOURSELF. 2506 01:53:05,378 --> 01:53:07,647 OR HELP IN THE DIAGNOSTIC 2507 01:53:07,714 --> 01:53:07,881 JOURNEY. 2508 01:53:07,947 --> 01:53:12,452 INFINITY LOOPS ARE WHERE 2509 01:53:12,519 --> 01:53:13,887 PATIENTS GET STUCK AND A GET A 2510 01:53:13,953 --> 01:53:19,025 SYMPTOM, GO TO THE HOSPITAL AND 2511 01:53:19,092 --> 01:53:25,398 GO BACK. 2512 01:53:25,465 --> 01:53:27,267 HOW CAN WE PROTECT AND IDENTIFY 2513 01:53:27,333 --> 01:53:29,969 THOSE MOMENTS AND BREAK THOSE 2514 01:53:30,036 --> 01:53:30,303 MOMENTS? 2515 01:53:30,370 --> 01:53:37,143 I'LL SHARE A COUPLE EXAMPLES OF 2516 01:53:37,210 --> 01:53:43,483 THINGS WE'RE DOING DOING TODAY 2517 01:53:43,550 --> 01:53:48,922 AND SHARE HOW WHY HAVING A 2518 01:53:48,988 --> 01:53:50,557 COMPUTER ACT WITH ETHICS IS 2519 01:53:50,623 --> 01:53:50,757 GOOD. 2520 01:53:50,823 --> 01:53:56,362 FIRST CASE, PATIENT FINDING. 2521 01:53:56,429 --> 01:54:04,470 YOU HEARD ABOUT THE DIAGNOSTIC 2522 01:54:04,537 --> 01:54:05,138 ODDITY VOOECH WITH DOMINIQUE IT 2523 01:54:05,205 --> 01:54:05,505 TOOK A YEAR. 2524 01:54:05,572 --> 01:54:10,343 THIS IS THE MOST EQUIPPED PERSON 2525 01:54:10,410 --> 01:54:11,945 IN THE WORLD TO HAVE A CHILD 2526 01:54:12,011 --> 01:54:13,179 WITH A RARE DISEASE AND I 2527 01:54:13,246 --> 01:54:22,522 COULDN'T BE FASTER. 2528 01:54:22,589 --> 01:54:24,023 WE UTILIZE THE HEALTH CARE DATA 2529 01:54:24,090 --> 01:54:27,126 AND THE LOOK ALIGN ANALYSES. 2530 01:54:27,193 --> 01:54:29,295 GOING BACK TO THE DEFINITION OF 2531 01:54:29,362 --> 01:54:33,166 A LOOK ALIKE ANALYSIS. 2532 01:54:33,233 --> 01:54:36,536 I BUY A PURPLE DRESS AND GO ON 2533 01:54:36,603 --> 01:54:39,005 AMAZON AND PURPLE DRESS YOU'LL 2534 01:54:39,072 --> 01:54:40,073 SEE CUSTOMERS LIKE YOU ALSO 2535 01:54:40,139 --> 01:54:40,873 BOUGHT. 2536 01:54:40,940 --> 01:54:49,148 THEY'RE TAKING ALL MY BACKGROND 2537 01:54:49,215 --> 01:54:50,516 DATA, AGE, BUYING PATTERNS, 2538 01:54:50,583 --> 01:54:55,989 WHERE I LIVE MOM OF WHO KIDS AND 2539 01:54:56,055 --> 01:54:57,190 LIVE IN GEORGIA AND THERE'S A 2540 01:54:57,257 --> 01:55:01,928 BUNCH OF OTHER WOMEN LIKE ME 2541 01:55:01,995 --> 01:55:03,963 LOOK AGENT PURPLE DRESSES. 2542 01:55:04,030 --> 01:55:10,470 IT TACKS THEM UP AND RECOMMENDS 2543 01:55:10,536 --> 01:55:11,638 AND RANKS THOSE MISTAKE LIKELY 2544 01:55:11,704 --> 01:55:12,739 I'D WANT TO BUY. 2545 01:55:12,805 --> 01:55:21,114 HOW DO WE USE THIS IN HEALTH 2546 01:55:21,180 --> 01:55:26,286 CARE? 2547 01:55:26,352 --> 01:55:28,688 WE TAKE A COHOST PATIENTS. 2548 01:55:28,755 --> 01:55:31,324 I WORK IN A COHORT MICE AND WE 2549 01:55:31,391 --> 01:55:32,759 USE DIAGNOSTIC CODES AND CREATE 2550 01:55:32,825 --> 01:55:37,130 A DATA COHORT OF ALL THE 2551 01:55:37,196 --> 01:55:38,698 PATIENTS IN THE UNITED STATES. 2552 01:55:38,765 --> 01:55:40,967 WHAT DO THEY LOOK LIKE TODAY? 2553 01:55:41,034 --> 01:55:45,138 WHAT DO ALL THEIR DINGS IN THE 2554 01:55:45,204 --> 01:55:48,941 HEALTH CARE SYSTEM LOOK LIKE? 2555 01:55:49,008 --> 01:55:54,914 LAYER THAT UP AND GET IT TO THE 2556 01:55:54,981 --> 01:55:57,750 COMPUTER WITH THE MATH AND 2557 01:55:57,817 --> 01:55:58,718 MACHINE LEARNING UNDER THE A.I. 2558 01:55:58,785 --> 01:56:00,720 UMBRELLA AND GIVE ME PATTERNS 2559 01:56:00,787 --> 01:56:00,920 HERE. 2560 01:56:00,987 --> 01:56:02,689 HOW CAIN BREAK THIS UP TO 2561 01:56:02,755 --> 01:56:11,397 SMALLER COHORTS. 2562 01:56:11,464 --> 01:56:14,934 SAY WE LOOK AT WOMEN LOOKING AT 2563 01:56:15,001 --> 01:56:18,638 A SUBSEFT A POPULATION WHICH IS 2564 01:56:18,705 --> 01:56:18,871 MUSK. 2565 01:56:18,938 --> 01:56:19,939 SEVERAL THOUSAND PATIENTS IN THE 2566 01:56:20,006 --> 01:56:20,873 UNITED STATES. 2567 01:56:20,940 --> 01:56:24,844 WE HAVE THAT GROUP AND TEMPLATE 2568 01:56:24,911 --> 01:56:28,781 AND TAKE THE MATH THAT NOW NOU 2569 01:56:28,848 --> 01:56:37,323 KNOWS HOW TO IDENTIFY AND IT 2570 01:56:37,390 --> 01:56:43,796 DOESN'T JUST INCLUDE THESE 2571 01:56:43,863 --> 01:56:48,468 PATIENTS BUT ALL IN THE 2572 01:56:48,534 --> 01:56:48,735 PATIENTS. 2573 01:56:48,801 --> 01:56:51,904 IT CAN START TO LOOK AT PATIENTS 2574 01:56:51,971 --> 01:56:53,206 HAVING SYMPTOMS BEFORE THEY HIT 2575 01:56:53,272 --> 01:57:03,516 THE DIAGNOSIS. 2576 01:57:08,154 --> 01:57:12,925 THEY HAD MUSCLE WEAKNESS OR 2577 01:57:12,992 --> 01:57:13,960 UNABLE TO BREATHE AND THE MATH 2578 01:57:14,026 --> 01:57:15,862 IS LEARNING FROM ALL THE OTHER 2579 01:57:15,928 --> 01:57:17,930 PATIENTS THAT WENT THROUGH THAT 2580 01:57:17,997 --> 01:57:28,341 DIAGNOSTIC ODYSSEY. 2581 01:57:39,552 --> 01:57:41,721 SOME ARE USING CLINICAL SUPPORT 2582 01:57:41,788 --> 01:57:45,124 AND THE MATH IS HELPING US 2583 01:57:45,191 --> 01:57:47,860 SHORTEN TIME TO DIAGNOSIS, 2584 01:57:47,927 --> 01:57:48,528 SHORTEN TIME TO THE RIGHT 2585 01:57:48,594 --> 01:57:51,164 TREATMENT AND GET RID OF SOME OF 2586 01:57:51,230 --> 01:58:00,606 THOSE INFINITY LOOPS. 2587 01:58:00,673 --> 01:58:02,842 THE SECOND IS PREDICTION. 2588 01:58:02,909 --> 01:58:04,710 HOW MIGHT WE PREDICT? 2589 01:58:04,777 --> 01:58:06,879 HOW MIGHT WE PREDICT IF MAYBE 2590 01:58:06,946 --> 01:58:09,549 YOU'LL HAVE A BAD DAY WITH 2591 01:58:09,615 --> 01:58:12,952 SYMPTOMS? 2592 01:58:13,019 --> 01:58:15,021 OR MIGHT WE PREDICT THAT YOU AS 2593 01:58:15,087 --> 01:58:16,556 A PATIENT MAY HAVE AN EASIER 2594 01:58:16,622 --> 01:58:18,891 PATH OF THE DISEASE OR HARDER 2595 01:58:18,958 --> 01:58:19,091 PATH? 2596 01:58:19,158 --> 01:58:20,259 AND IF WE KNOW AHEAD OF TIME 2597 01:58:20,326 --> 01:58:22,195 THAT MAYBE YOU'RE THE ONE WITH 2598 01:58:22,261 --> 01:58:26,466 THE HARDER PATH, THEN WE CAN 2599 01:58:26,532 --> 01:58:27,233 ACCELERATE THEY'LL NEW 2600 01:58:27,300 --> 01:58:29,569 TREATMENTS, TARGETED THERAPIES 2601 01:58:29,635 --> 01:58:31,270 EARLY FOR PATIENTS. 2602 01:58:31,337 --> 01:58:33,139 SO WE'RE USING THE MATH TO DO 2603 01:58:33,206 --> 01:58:33,873 THINGS LIKE THIS. 2604 01:58:33,940 --> 01:58:39,111 WE TAKE A SAME COHORT OF 2605 01:58:39,178 --> 01:58:41,581 PATIENTS WE LOOK FOR PATTERNS, 2606 01:58:41,647 --> 01:58:44,083 THEY GIVE US SIGNALS TO ALERT 2607 01:58:44,150 --> 01:58:45,017 THAT PERHAPS THIS PATIENT'S 2608 01:58:45,084 --> 01:58:50,656 GOING HAVE A HARDER JOURNEY. 2609 01:58:50,723 --> 01:58:54,694 THOSE TYPES OF ANALYSES CAN BE 2610 01:58:54,760 --> 01:58:56,462 PUT IN SYSTEMS AND IN THE HANDS 2611 01:58:56,529 --> 01:58:58,431 OF YOU AS PATIENTS AND 2612 01:58:58,498 --> 01:59:01,501 CAREGIVERS AND PEOPLE IN OUR 2613 01:59:01,567 --> 01:59:02,034 COMMUNITY. 2614 01:59:02,101 --> 01:59:03,402 THIS IS MY APPLE WATCH. 2615 01:59:03,469 --> 01:59:05,137 IT DOES DETECT A WHOLE LOT OF 2616 01:59:05,204 --> 01:59:06,572 THINGS. 2617 01:59:06,639 --> 01:59:09,408 SO WHAT WE'RE SEEING NOW IS THAT 2618 01:59:09,475 --> 01:59:11,277 REAL LIVE DATA YOU ARE 2619 01:59:11,344 --> 01:59:13,279 GENERATING AS A LIVING HUMAN 2620 01:59:13,346 --> 01:59:15,181 BEING CAN BE USED ALSO TO 2621 01:59:15,248 --> 01:59:20,152 IDENTIFY PREDICTORS. 2622 01:59:20,219 --> 01:59:25,224 IT'S FASCINATING. 2623 01:59:25,291 --> 01:59:33,466 WORKING AGAIN IN THIS CONDITION 2624 01:59:33,533 --> 01:59:35,902 THE PHONE CAMERA CAN LOOK FOR 2625 01:59:35,968 --> 01:59:39,171 CHANGE IN EYELIDS OR VOICE 2626 01:59:39,238 --> 01:59:41,741 CHANGES TO ALERT A PATIENT THAT 2627 01:59:41,807 --> 01:59:43,276 MAYBE TOMORROW WON'T BE A GREAT 2628 01:59:43,342 --> 01:59:43,676 DAY. 2629 01:59:43,743 --> 01:59:45,978 MAYBE YOU WANT TO STAY AWAY FROM 2630 01:59:46,045 --> 01:59:48,381 HEAT AND HUMIDITY, HELLO, 2631 01:59:48,447 --> 01:59:49,882 ATLANTA, GEORGIA AND STAY INSIDE 2632 01:59:49,949 --> 01:59:52,451 BECAUSE YOU'RE AT A HIGH RISK 2633 01:59:52,518 --> 01:59:58,824 FOR A CRISIS OR AN EXACERBATION. 2634 01:59:58,891 --> 02:00:01,127 SO WE'RE UTILIZING ALL THESE 2635 02:00:01,193 --> 02:00:11,337 THINGS. 2636 02:00:37,597 --> 02:00:39,999 I DON'T IF YOU HEARD THE TARGET 2637 02:00:40,066 --> 02:00:40,466 STORY. 2638 02:00:40,533 --> 02:00:43,436 YEARS BACK TARGET WAS USING A.I. 2639 02:00:43,502 --> 02:00:45,271 TO SEND COUPONS TO HOUSEHOLDS. 2640 02:00:45,338 --> 02:00:48,708 THEY STARTED TO FIGURE OUT 2641 02:00:48,774 --> 02:00:50,242 BUYING PATTERNS OF WOMEN BEFORE 2642 02:00:50,309 --> 02:00:53,946 THEY TOOK A PREGNANCY TEST. 2643 02:00:54,013 --> 02:00:56,515 SO PARENTS WERE GETTING LEAFLETS 2644 02:00:56,582 --> 02:00:59,118 ABOUT BABY STUFF AND THEIR 2645 02:00:59,185 --> 02:01:00,586 DAUGHTERS MAY HAVE BEEN PREGNANT 2646 02:01:00,653 --> 02:01:02,254 AND THEY DIDN'T KNOW IT. 2647 02:01:02,321 --> 02:01:07,693 NOT A GREAT EXAMPLE WHEN A.I. 2648 02:01:07,760 --> 02:01:12,164 WAS USED AND LED TO DIFFICULT 2649 02:01:12,231 --> 02:01:12,798 DISCUSSIONS IN THE HOUSEHOLD. 2650 02:01:12,865 --> 02:01:14,834 A.I. CAN BE USED FOR GOOD BUT WE 2651 02:01:14,900 --> 02:01:16,969 ALSO HAVE TO HAVE THE RIGHT 2652 02:01:17,036 --> 02:01:19,472 CONSTRAINTS AND RIGHT DATA, THE 2653 02:01:19,538 --> 02:01:25,111 RIGHT VALIDATION FOR IT TO 2654 02:01:25,177 --> 02:01:29,982 ENABLE FORAY BETTER DIAGNOSTIC 2655 02:01:30,049 --> 02:01:31,484 TREATMENT FOR THOSE IN RARE 2656 02:01:31,550 --> 02:01:31,784 DISEASE. 2657 02:01:31,851 --> 02:01:32,885 THANK YOU AND I'LL PASS TO IT 2658 02:01:32,952 --> 02:01:43,262 OUR NEXT PANELIST. 2659 02:01:55,675 --> 02:02:02,415 NEXT WE'LL HAVE MANISHA BALWANI 2660 02:02:02,481 --> 02:02:03,382 A PROFESSOR AND CHIEF DIVISION 2661 02:02:03,449 --> 02:02:05,551 OF THE MEDICAL GENETICS AND 2662 02:02:05,618 --> 02:02:09,121 GENOMICS DEPARTMENT OF GENETICS 2663 02:02:09,188 --> 02:02:15,795 AND GENOMIC SCIENCES ICAHN 2664 02:02:15,861 --> 02:02:19,532 SCHOOL OF MEDICINE AT MOUNT 2665 02:02:19,598 --> 02:02:19,732 SINAI. 2666 02:02:19,799 --> 02:02:22,635 >> WE'LL TALK ABOUT SHORTENING 2667 02:02:22,702 --> 02:02:25,104 THE DIAGNOSTIC ODYSSEY FOR 2668 02:02:25,171 --> 02:02:25,838 PATIENTS WITH RARE DISEASES. 2669 02:02:25,905 --> 02:02:27,106 I'LL HIGHLIGHT THE CHALLENGES 2670 02:02:27,173 --> 02:02:27,673 AND SUCCESSES AND WHAT WE 2671 02:02:27,740 --> 02:02:38,184 LEARNED FROM THE PROCESS. 2672 02:02:39,051 --> 02:02:41,454 THERE WAS WORK IN DEVELOPING A 2673 02:02:41,520 --> 02:02:43,522 PEDIATRIC MACHINE-ASSISTED 2674 02:02:43,589 --> 02:02:44,857 ALGORITHM. 2675 02:02:44,924 --> 02:02:47,560 AS PART OF THE UG3 PHASE OF THE 2676 02:02:47,626 --> 02:02:49,762 GRANT WE PILOTED THE ALGORITHM 2677 02:02:49,829 --> 02:02:51,831 IN A STUDY WITH 200 PATIENTS AND 2678 02:02:51,897 --> 02:02:54,200 AS A SECONDARY AIM, WE WANTED TO 2679 02:02:54,266 --> 02:02:57,069 TRAIN AND CONTINUE TO IMPROVE 2680 02:02:57,136 --> 02:02:57,403 THE ALGORITHM. 2681 02:02:57,470 --> 02:02:59,071 THE NEXT PHASE OF THE STUDY IS 2682 02:02:59,138 --> 02:03:02,241 THE UH3 PHASE WHERE WE AIM TO 2683 02:03:02,308 --> 02:03:04,643 DEPLOY THIS IMPROVED ALGORITHM 2684 02:03:04,710 --> 02:03:07,747 AT A COMMUNITY HOSPITAL WITHIN 2685 02:03:07,813 --> 02:03:13,119 THE MOUNT SINAI SYSTEM AND AIM 2686 02:03:13,185 --> 02:03:19,391 TO ADOLESCENTS AND ADULTS. 2687 02:03:19,458 --> 02:03:21,894 IT WAS BASED ON THE PRINCIPLE 2688 02:03:21,961 --> 02:03:24,864 INFANTS AND TODDLERS WOULD BE 2689 02:03:24,930 --> 02:03:29,268 ENRICHED FOR PATIENTS WITH RARE 2690 02:03:29,335 --> 02:03:30,669 DISORDERS. 2691 02:03:30,736 --> 02:03:33,639 A MODEL WAS TRAINED ON THE 2692 02:03:33,706 --> 02:03:37,143 ELECTRONIC HEALTH RECORD NOTES 2693 02:03:37,209 --> 02:03:40,713 OF THE CHILDREN. 2694 02:03:40,780 --> 02:03:43,082 THIS NATURAL LANGUAGE BASE 2695 02:03:43,149 --> 02:03:45,251 ALGORITHM WENT FOR THE TESTING 2696 02:03:45,317 --> 02:03:49,288 AND THE PROCESS WAS REPEATED FOR 2697 02:03:49,355 --> 02:03:51,190 OLDER CHILDREN FROM 3 TO 12. 2698 02:03:51,257 --> 02:03:56,929 WE DEPLOYED THE RULES AND 2699 02:03:56,996 --> 02:03:58,564 NATURAL LANGUAGE BASED RECORD TO 2700 02:03:58,631 --> 02:04:00,432 GENERATE A LIST OF PATIENTS WHO 2701 02:04:00,499 --> 02:04:03,202 COULD BE TRIAGED FOR GENETIC 2702 02:04:03,269 --> 02:04:12,077 DISORDERS. 2703 02:04:12,144 --> 02:04:16,182 THERE WERE 0-3, 3-4 AND 4 AND 2704 02:04:16,248 --> 02:04:16,549 OLDER. 2705 02:04:16,615 --> 02:04:19,819 DURING THE DEVELOPMENT OF THE 2706 02:04:19,885 --> 02:04:22,888 ALGORITHM IN A REVIEW OF 450 2707 02:04:22,955 --> 02:04:25,791 CASES, PHYSICIANS WERE LIKELY TO 2708 02:04:25,858 --> 02:04:31,430 ORDER TESTING IN 78% OF CASES. 2709 02:04:31,497 --> 02:04:34,433 THE POSITIVE WAS 15 TIMES MORE 2710 02:04:34,500 --> 02:04:44,877 THAN STANDARD OF CARE. 2711 02:04:45,277 --> 02:04:47,980 YOU CAN SEE A PATIENT PREDICTED 2712 02:04:48,047 --> 02:04:49,882 TO NEED A REFERRAL TO GENETICS 2713 02:04:49,949 --> 02:04:51,917 AND ON THE VERTICAL LINE YOU CAN 2714 02:04:51,984 --> 02:05:02,528 SEE THE AGE OF THE PATIENT YOU 2715 02:05:03,262 --> 02:05:05,664 CAN SEE IT LIST FROM THE MEDICAL 2716 02:05:05,731 --> 02:05:08,801 RECORD AND THERE'S A COUPLE 2717 02:05:08,868 --> 02:05:11,570 DIAGNOSES OF CONGENITAL HEART 2718 02:05:11,637 --> 02:05:17,209 DISEASE DIAGNOSED AFTER BIRTH. 2719 02:05:17,276 --> 02:05:19,144 ON THE RIGHT YOU CAN SEE 2720 02:05:19,211 --> 02:05:21,146 MULTIPLE TOUCH POINTS WITH THE 2721 02:05:21,213 --> 02:05:22,181 HEALTH SYSTEM. 2722 02:05:22,248 --> 02:05:26,085 YOU CAN SEE MULTIPLE SPECIALTY 2723 02:05:26,151 --> 02:05:30,189 VISITS AND E.R. AND YOU COULD 2724 02:05:30,256 --> 02:05:38,797 SEE THE GENETIC CONSULTATION. 2725 02:05:38,864 --> 02:05:43,068 YOU CAN SEE THE PATIENT HAS A 2726 02:05:43,135 --> 02:05:44,236 LOW SICKNESS CORE AND FEWER 2727 02:05:44,303 --> 02:05:45,938 TOUCH POINTS WITH THE HEALTH 2728 02:05:46,005 --> 02:05:46,906 CARE SYSTEM. 2729 02:05:46,972 --> 02:05:50,476 SO AS PART OF THE PROJECT WE 2730 02:05:50,542 --> 02:05:51,777 RECRUITED PHYSICIANS AND 2731 02:05:51,844 --> 02:05:53,178 PRACTICES WITHIN OUR HEALTH CARE 2732 02:05:53,245 --> 02:05:57,116 SYSTEM AND WE RECRUITED 2733 02:05:57,182 --> 02:06:01,687 PRACTICES WHICH WERE PART OF OUR 2734 02:06:01,754 --> 02:06:03,589 HOSPITAL-BASED CLINICS AS WELL 2735 02:06:03,656 --> 02:06:06,525 AS PRACTICE GROUPS AND PRIMARY 2736 02:06:06,592 --> 02:06:10,729 CARE AND ALSO A CARDIOLOGY 2737 02:06:10,796 --> 02:06:13,465 PRACTICE AND WE SAW A MIX OF 2738 02:06:13,532 --> 02:06:15,100 PATIENTS ON GOVERNMENT AND 2739 02:06:15,167 --> 02:06:16,502 PRIVATE PLAN AND SAW A DIVERSE 2740 02:06:16,568 --> 02:06:19,305 POPULATION REFLECTIVE OF THE 2741 02:06:19,371 --> 02:06:21,140 AREA OF MOUNT SINAI. 2742 02:06:21,206 --> 02:06:23,175 AS PART OF THE PROJECT, THE 2743 02:06:23,242 --> 02:06:24,143 PHYSICIANS RECEIVED AN 2744 02:06:24,209 --> 02:06:25,477 EDUCATIONAL TRAINING AND SPOKE 2745 02:06:25,544 --> 02:06:26,845 ABOUT THE DIAGNOSTIC ODYSSEY AND 2746 02:06:26,912 --> 02:06:28,781 CURRENT STATE OF GENETIC TESTING 2747 02:06:28,847 --> 02:06:31,417 AND THEN REVEALED THE STUDY 2748 02:06:31,483 --> 02:06:33,218 OVERVIEW AND DEFINED CLEARLY 2749 02:06:33,285 --> 02:06:36,255 THAT ALL THE PATIENTS IDENTIFIED 2750 02:06:36,322 --> 02:06:37,356 THROUGH THIS ALGORITHM WOULD 2751 02:06:37,423 --> 02:06:40,459 QUALIFY FOR A STANDARD OF CARE 2752 02:06:40,526 --> 02:06:43,462 CLINICAL GENETICS REFERRAL AND 2753 02:06:43,529 --> 02:06:45,764 IF TREATED AS A STANDARD 2754 02:06:45,831 --> 02:06:46,498 REFERRAL THEY'D BE OFFERED AN 2755 02:06:46,565 --> 02:06:47,533 OPTION TO PARTICIPATE IN 2756 02:06:47,599 --> 02:06:52,504 RESEARCH STUDIES AT THE END. 2757 02:06:52,571 --> 02:06:54,239 SIMULTANEOUSLY THEY SET UP A 2758 02:06:54,306 --> 02:06:56,208 SEPARATE CLINIC, A SEPARATE 2759 02:06:56,275 --> 02:06:58,644 PIPELINE FOR REFERRAL OF THE 2760 02:06:58,711 --> 02:07:01,013 PATIENTS THE MOUNT SINAI GENETIC 2761 02:07:01,080 --> 02:07:02,481 OUTREACH CLINIC IN THE DIVISION 2762 02:07:02,548 --> 02:07:06,185 OF MEDICAL GENETICS AND GENOMICS 2763 02:07:06,251 --> 02:07:08,921 AND CREATED RESERVED APPOINTMENT 2764 02:07:08,988 --> 02:07:09,922 SLOTS FOR THE PATIENTS. 2765 02:07:09,989 --> 02:07:12,825 TO GIVE AN IDEA, GENETICS 2766 02:07:12,891 --> 02:07:14,626 CONSULTATIONS USUALLY HAVE A 2767 02:07:14,693 --> 02:07:16,028 LONG WAIT TIME NATIONALLY. 2768 02:07:16,095 --> 02:07:17,629 THEY CAN BE UPWARDS OF SIX 2769 02:07:17,696 --> 02:07:20,299 MONTHS BUT OUR GOAL WAS TO SEE 2770 02:07:20,366 --> 02:07:21,266 THE PATIENTS WITHIN A COUPLE 2771 02:07:21,333 --> 02:07:23,802 WEEKS OF REFERRAL. 2772 02:07:23,869 --> 02:07:24,503 THE REFERRAL INFORMATION ONCE 2773 02:07:24,570 --> 02:07:27,006 THE PATIENTS WERE IDENTIFIED WAS 2774 02:07:27,072 --> 02:07:29,808 SENT TO THE PEDIATRICIAN ALONG 2775 02:07:29,875 --> 02:07:31,844 WITH THE INDICATIONS WHY WE 2776 02:07:31,910 --> 02:07:32,811 THOUGHT THE PATIENT SHOULD BE 2777 02:07:32,878 --> 02:07:34,380 REFERRED AND HIGHLIGHTED THE 2778 02:07:34,446 --> 02:07:36,115 PATIENTS WOULD BE REFERRED AS 2779 02:07:36,181 --> 02:07:39,184 FOR STANDARD OF CARE AND 2780 02:07:39,251 --> 02:07:40,919 EVALUATED AS STANDARD OF CARE 2781 02:07:40,986 --> 02:07:42,721 AND RECRUITMENT IN A RESEARCH 2782 02:07:42,788 --> 02:07:44,857 STUDY AND WOULD HAVE A STANDARD 2783 02:07:44,923 --> 02:07:48,060 OF CARE FOLLOW UP FOR RELATES OF 2784 02:07:48,127 --> 02:07:49,061 MANAGEMENT AND WOULD PROVIDE THE 2785 02:07:49,128 --> 02:07:50,162 PHYSICIAN WITH A CONSULTATION 2786 02:07:50,229 --> 02:07:53,799 AND SUMMARY OF RESULTS. 2787 02:07:53,866 --> 02:07:56,235 SO HERE'S A FLOAT CHART SHOWING 2788 02:07:56,301 --> 02:07:57,870 OUR PROCESS AGAIN. 2789 02:07:57,936 --> 02:08:03,242 SO THE MOUNT SINAI WAREHOUSE 2790 02:08:03,308 --> 02:08:04,476 SCREENED AND IDENTIFIED THE 2791 02:08:04,543 --> 02:08:05,911 PATIENTS AND CONDUCTED MANUAL 2792 02:08:05,978 --> 02:08:08,213 CHART REVIEWS ON EACH OF THE 2793 02:08:08,280 --> 02:08:09,281 MEDICAL RECORDS. 2794 02:08:09,348 --> 02:08:13,819 TWO CLINICIANS REVIEWED THE 2795 02:08:13,886 --> 02:08:14,486 MEDICAL RECORDS AND EVERY 2796 02:08:14,553 --> 02:08:17,823 DIFFERENCE OF OPINION WAS 2797 02:08:17,890 --> 02:08:19,091 ADJUDICATED BY THE GROUP 2798 02:08:19,158 --> 02:08:20,192 INCLUDING A THIRD PHYSICIAN. 2799 02:08:20,259 --> 02:08:24,363 WE WANTED TO MAKE SURE WE MADE 2800 02:08:24,430 --> 02:08:27,099 AN UNBIASSED DECISION AND THEY 2801 02:08:27,166 --> 02:08:29,168 WERE SHOPLIFTED FOR REFERRAL. 2802 02:08:29,234 --> 02:08:31,870 IN ADDITION TO IDENTIFYING WHICH 2803 02:08:31,937 --> 02:08:35,207 PATIENT SHOULD BEING REFERRED, 2804 02:08:35,274 --> 02:08:37,910 WE ALSO IDENTIFIED IF WE THOUGHT 2805 02:08:37,976 --> 02:08:39,311 THE ALGORITHM WORKED OR NOT AND 2806 02:08:39,378 --> 02:08:42,214 IF WE FELT IT DID NOT WORK WE 2807 02:08:42,281 --> 02:08:43,315 MADE NOTES TO SHARE THAT WITH 2808 02:08:43,382 --> 02:08:45,317 THE DEVELOPER TO KEEP IMPROVING 2809 02:08:45,384 --> 02:08:47,820 THE ALGORITHM. 2810 02:08:47,886 --> 02:08:50,522 WE PROVIDED PEDIATRIC PROVIDERS 2811 02:08:50,589 --> 02:08:52,424 AND REFERRED PATIENTS. 2812 02:08:52,491 --> 02:08:55,027 THE TWO PARTS OF THE PROCESS 2813 02:08:55,094 --> 02:08:56,995 WERE CLINICAL CARE, AGAIN, 2814 02:08:57,062 --> 02:08:58,063 GENETICS CONSULTATION WITH 2815 02:08:58,130 --> 02:09:00,833 ROUTINE GENETIC TESTING AS 2816 02:09:00,899 --> 02:09:02,468 CLINICALLY INDICATING BUILD TO 2817 02:09:02,534 --> 02:09:03,936 INSURANCE AND FOLLOW UP 2818 02:09:04,002 --> 02:09:05,671 APPOINTMENT AND AT THE END A 2819 02:09:05,737 --> 02:09:09,208 RESEARCH COORDINATOR ON SITE TO 2820 02:09:09,274 --> 02:09:10,609 ENROLL THE PATIENTS IN THE STUDY 2821 02:09:10,676 --> 02:09:13,145 AND AS PART OF THE STUDY THEY 2822 02:09:13,212 --> 02:09:16,348 WOULD GIVE INFORMED CONSENT FOR 2823 02:09:16,415 --> 02:09:17,983 ACCESS TO THE ELECTRONIC HEALTH 2824 02:09:18,050 --> 02:09:18,217 RECORD. 2825 02:09:18,283 --> 02:09:19,685 HERE ARE SOME OF THE COMMON 2826 02:09:19,751 --> 02:09:22,421 REFERRALS FOR THE CLINIC. 2827 02:09:22,488 --> 02:09:25,124 THESE ARE PREDOMINANTLY IN THREE 2828 02:09:25,190 --> 02:09:26,125 BUCKETS. 2829 02:09:26,191 --> 02:09:28,827 THIS IS MY NO MEANS A 2830 02:09:28,894 --> 02:09:31,663 COMPREHENSIVE LIST BUT THEY WERE 2831 02:09:31,730 --> 02:09:32,965 ANOMALIES, NEURAL DEVELOPMENT 2832 02:09:33,031 --> 02:09:33,532 DISORDERS OR CARDIOVASCULAR 2833 02:09:33,599 --> 02:09:40,639 DISEASE. 2834 02:09:40,706 --> 02:09:45,144 WE REVIEWED 431 CHARTS AS A 2835 02:09:45,210 --> 02:09:47,312 GROUP. 2836 02:09:47,379 --> 02:09:50,516 102 PATIENTS WERE SHORT LISTED 2837 02:09:50,582 --> 02:09:52,417 FOR REFERRAL. 2838 02:09:52,484 --> 02:09:54,286 64 PATIENTS RESOURCED REFERRALS. 2839 02:09:54,353 --> 02:09:56,922 OF THESE, 29 PATIENTS DID NOT 2840 02:09:56,989 --> 02:09:58,390 COME TO CLINIC. 2841 02:09:58,457 --> 02:10:00,058 I'LL TALK ABOUT SOME OF THE 2842 02:10:00,125 --> 02:10:01,093 BARRIERS IN GETTING THE PATIENT 2843 02:10:01,160 --> 02:10:02,895 TO CLINIC. 2844 02:10:02,961 --> 02:10:04,830 22 PATIENT SEEN AT THE CLINIC 2845 02:10:04,897 --> 02:10:07,399 AND OF THESE 17 ENROLLED IN THE 2846 02:10:07,466 --> 02:10:09,134 STUDY AND 13 PATIENTS ARE IN 2847 02:10:09,201 --> 02:10:12,704 PROCESS OF BEING SEEN. 2848 02:10:12,771 --> 02:10:18,377 WE ALSO HAD 82 REFERRALS PENDING 2849 02:10:18,443 --> 02:10:21,079 AND I'LL TALK ABOUT THE 2850 02:10:21,146 --> 02:10:22,514 CHALLENGES ON THE PEDIATRIC 2851 02:10:22,581 --> 02:10:24,750 PROVIDER IN AND THERE WERE 2852 02:10:24,816 --> 02:10:27,252 LOGISTIC CONCERNS INCLUDING 2853 02:10:27,319 --> 02:10:28,620 MOVING OUT OF THE AREA. 2854 02:10:28,687 --> 02:10:35,460 SO THERE WERE HUMAN FACTORS. 2855 02:10:35,527 --> 02:10:38,197 IT'S STRIKING THAT DESPITE ALL 2856 02:10:38,263 --> 02:10:39,498 THE EFFORTS TO MAKE IT EASY 2857 02:10:39,565 --> 02:10:40,632 POSSIBLE FOR PATIENTS WE WERE 2858 02:10:40,699 --> 02:10:42,634 NOT ABLE TO GET ALL THE PATIENTS 2859 02:10:42,701 --> 02:10:43,769 INTO CLINIC. 2860 02:10:43,835 --> 02:10:46,271 THIS CLINIC HAD AN EXTREMELY 2861 02:10:46,338 --> 02:10:50,275 HIGH NO-SHOW RACE OR LAST-MINUTE 2862 02:10:50,342 --> 02:10:50,609 CANCELLATION. 2863 02:10:50,676 --> 02:10:51,843 THE PATIENT GETS THREE TOUCH 2864 02:10:51,910 --> 02:10:53,645 POINTS TO CONFIRM AN APPOINTMENT 2865 02:10:53,712 --> 02:10:55,881 BUT DESPITE THAT WE HAD AN 2866 02:10:55,948 --> 02:10:57,149 ALMOST 50% NO-SHOW OR 2867 02:10:57,216 --> 02:11:03,255 CANCELLATION RATE. 2868 02:11:03,322 --> 02:11:06,491 SOMETIMES THE REFERRED FAMILIES 2869 02:11:06,558 --> 02:11:08,093 DECLINED THE APPOINTMENT AND 2870 02:11:08,160 --> 02:11:09,628 THERE WAS CONFUSION ABOUT WHAT 2871 02:11:09,695 --> 02:11:11,563 WAS CLINICAL AND RESEARCH. 2872 02:11:11,630 --> 02:11:14,700 SOMETIMES THERE WAS AN ACUTE OR 2873 02:11:14,766 --> 02:11:15,767 CHRONIC ILLNESS LIMITING 2874 02:11:15,834 --> 02:11:18,870 SCHEDULING AND INSURANCE-RELATED 2875 02:11:18,937 --> 02:11:19,571 ISSUES, FAMILY CRISIS OR 2876 02:11:19,638 --> 02:11:21,740 PATIENTS IN FOSTER CARE AND WE 2877 02:11:21,807 --> 02:11:24,810 COULDN'T GET CONSENT OR PATIENTS 2878 02:11:24,876 --> 02:11:26,745 COME IN WITH A SIBLING OR 2879 02:11:26,812 --> 02:11:32,918 CAREGIVER INSTEAD OF A PARENT. 2880 02:11:32,985 --> 02:11:33,518 SIMILA 2881 02:11:33,585 --> 02:11:34,786 SIMILARLY THERE WERE CHALLENGE 2882 02:11:34,853 --> 02:11:37,122 FOR PROVIDERS, BUSY 2883 02:11:37,189 --> 02:11:41,059 PEDIATRICIANS AND ITS WAS HARD 2884 02:11:41,126 --> 02:11:43,362 TO CALL THE PATIENTS AND SAY I 2885 02:11:43,428 --> 02:11:46,298 THINK YOU NEED A GENETICS 2886 02:11:46,365 --> 02:11:46,565 CONSULT. 2887 02:11:46,632 --> 02:11:47,666 MOST PROVIDERS PREFER TO DISCUSS 2888 02:11:47,733 --> 02:11:50,836 THE STUDY AT THE REGULARLY 2889 02:11:50,902 --> 02:11:52,471 SCHEDULED WELL VISIT FOR THE 2890 02:11:52,537 --> 02:11:55,641 PATIENT. 2891 02:11:55,707 --> 02:11:57,109 EVEN EVEN WHEN THEY APPROACHED 2892 02:11:57,175 --> 02:11:58,577 THE FAMILY THE FAMILY DECLINED 2893 02:11:58,644 --> 02:12:02,481 THE REFERRAL OR WANTED TO FOCUS 2894 02:12:02,547 --> 02:12:03,515 OR FOCUS ON THE MORE IMMEDIATE 2895 02:12:03,582 --> 02:12:10,656 NEEDS OF ACUTE ILLNESS AND TIME 2896 02:12:10,722 --> 02:12:11,523 LIMITATIONS. 2897 02:12:11,590 --> 02:12:15,927 OUR STUDY TEAM TRIED TO SUPPORT 2898 02:12:15,994 --> 02:12:18,830 PROVIDERS AND ONE-ON-ONE AS PART 2899 02:12:18,897 --> 02:12:22,434 OF A NEWSLETTER, E-MAIL 2900 02:12:22,501 --> 02:12:24,836 COMMUNICATION. 2901 02:12:24,903 --> 02:12:26,672 WE PROVIDED LANGUAGE DISCUSSIONS 2902 02:12:26,738 --> 02:12:27,272 AND TRACKED THE REFERRALS 2903 02:12:27,339 --> 02:12:33,078 CLOSELY. 2904 02:12:33,145 --> 02:12:33,879 WE WERE DETERMINED TO GET AS 2905 02:12:33,945 --> 02:12:37,115 MANY PATIENTS TO CLINIC AS 2906 02:12:37,182 --> 02:12:45,324 POSSIBLE. 2907 02:12:45,390 --> 02:12:49,127 THERE WAS A 9-YEAR-OLD PATIENT 2908 02:12:49,194 --> 02:12:52,531 PREMATURE WITH A HISTORY OF 2909 02:12:52,597 --> 02:12:54,599 CONGENITAL HEART DISEASE WITH 2910 02:12:54,666 --> 02:13:01,273 SOME DEVELOPMENTAL DELAY AND VP 2911 02:13:01,340 --> 02:13:01,807 SHUNT. 2912 02:13:01,873 --> 02:13:11,350 IT APPEARS THE PATIENT WAS BEING 2913 02:13:11,416 --> 02:13:18,990 FOLLOWED BY THE CARD YOL IOLOGYP 2914 02:13:19,057 --> 02:13:22,361 AND SOME SYSTEMS WERE SUGGESTIVE 2915 02:13:22,427 --> 02:13:24,830 OF A DISORDER OF PROMINENT EYES 2916 02:13:24,896 --> 02:13:28,300 AND DROOPING EYELIDS AND HAD TOE 2917 02:13:28,367 --> 02:13:31,670 WALKING AND INCREASED DOME OF 2918 02:13:31,737 --> 02:13:33,772 THE LOWER LIMBS AND IT 2919 02:13:33,839 --> 02:13:38,944 IDENTIFIED TWO ABNORMALITIES 2920 02:13:39,010 --> 02:13:39,544 HERE. 2921 02:13:39,611 --> 02:13:50,155 THE AND THERE WAS ANOTHER GENE 2922 02:13:53,291 --> 02:13:57,262 AND THIS CHANGES THE MANAGEMENT 2923 02:13:57,329 --> 02:14:00,766 OF A PATIENT WHO IS NOW 9 YEARS 2924 02:14:00,832 --> 02:14:04,970 AT THE TIME OF DIAGNOSIS. 2925 02:14:05,036 --> 02:14:07,239 THEY NEEDED A RENAL ULTRASOUND 2926 02:14:07,305 --> 02:14:10,809 AND NEUROLOGY REFERRAL TO MON 2927 02:14:10,876 --> 02:14:21,219 FOR FOR SIGNS OF HEREDITARY 2928 02:14:21,286 --> 02:14:25,624 MOTOR NEUROON THE. 2929 02:14:25,690 --> 02:14:27,292 NEUROP 2930 02:14:27,359 --> 02:14:37,569 NEUROPATHY. 2931 02:14:41,006 --> 02:14:43,542 AND RESEARCHERS AMONG OTHER 2932 02:14:43,608 --> 02:14:44,676 MEMBERS WHICH COULD INCLUDE 2933 02:14:44,743 --> 02:14:45,277 COMMUNITY LEADERS AN ADVOCACY 2934 02:14:45,343 --> 02:14:48,947 GROUPS. 2935 02:14:49,014 --> 02:14:50,916 I'LL TYPE THE THOUGHT UP CHAT 2936 02:14:50,982 --> 02:14:52,918 GPT AND ASKED FOR A GRAPHIC AND 2937 02:14:52,984 --> 02:14:54,853 THIS IS WHAT IT CAME UP WITH. 2938 02:14:54,920 --> 02:14:56,488 WE HAVE A WAY TO GO BUT IT'S 2939 02:14:56,555 --> 02:14:57,355 GREAT TO HAVE A START WITH THE 2940 02:14:57,422 --> 02:14:57,622 PROJECTS. 2941 02:14:57,689 --> 02:15:07,866 THANK YOU. 2942 02:15:11,870 --> 02:15:17,008 >> NEXT WE HAVE EWY MATHE THE 2943 02:15:17,075 --> 02:15:19,678 DIRECTOR OF INFORMATICS DIVISION 2944 02:15:19,744 --> 02:15:20,645 OF PRECLINICAL INNOVATION AT 2945 02:15:20,712 --> 02:15:30,822 NCATS. 2946 02:15:43,568 --> 02:15:44,769 >> THANK YOU TO THE ORGANIZERS 2947 02:15:44,836 --> 02:15:45,837 FOR GIVING ME THE OPPORTUNITY 2948 02:15:45,904 --> 02:15:47,906 AND TALKING HOW WE'RE USING A.I. 2949 02:15:47,973 --> 02:15:49,307 TO EMPOWER US IN MAKING RESEARCH 2950 02:15:49,374 --> 02:15:53,144 DISCOVERIES. 2951 02:15:53,211 --> 02:15:55,747 THERE'S DIFFERENT WAYS IN WHICH 2952 02:15:55,814 --> 02:15:57,048 WE USE A.I. FOR DIFFERENT 2953 02:15:57,115 --> 02:15:57,349 PURPOSES. 2954 02:15:57,415 --> 02:16:01,553 SOME ARE LISTED HERE ON THE LEFT 2955 02:16:01,620 --> 02:16:04,256 AND THESE INCLUDE PREDICTING THE 2956 02:16:04,322 --> 02:16:09,494 EFFECTS OF TREATMENTS, 2957 02:16:09,561 --> 02:16:10,529 DIAGNOSTICS, THERAPIES AND 2958 02:16:10,595 --> 02:16:12,764 MATCHING PATIENTS TO THE RIGHT 2959 02:16:12,831 --> 02:16:16,334 TREATMENT AND A SYSTEMS VIEW 2960 02:16:16,401 --> 02:16:16,535 POINT. 2961 02:16:16,601 --> 02:16:18,103 THAT'S RELEVANT FOR THIS 2962 02:16:18,169 --> 02:16:20,205 COMMUNITY BECAUSE IT ENABLES US 2963 02:16:20,272 --> 02:16:22,340 TO LOOK AT MANY DISEASES AT ONCE 2964 02:16:22,407 --> 02:16:26,177 NOT JUST A SINGLE RARE DISEASE. 2965 02:16:26,244 --> 02:16:29,047 AND ON THE RIGHT YOU CAN SEE 2966 02:16:29,114 --> 02:16:31,449 WHAT POWERS OUR ABILITY TO DO 2967 02:16:31,516 --> 02:16:33,118 ANYTHING WITH A.I. AND THAT'S 2968 02:16:33,184 --> 02:16:34,953 DATA. 2969 02:16:35,020 --> 02:16:36,988 SO WITHIN NCATS WE HAVE A NUMBER 2970 02:16:37,055 --> 02:16:39,524 OF RESOURCES WHICH WE CURATE AND 2971 02:16:39,591 --> 02:16:41,693 MAKE AVAILABLE TO THE PUBLIC. 2972 02:16:41,760 --> 02:16:48,967 AND THEY'RE LISTED HERE. 2973 02:16:49,034 --> 02:16:50,535 THERE'S THERE'S DATA ANNOTATIONS 2974 02:16:50,602 --> 02:16:52,504 ON DISEASE. 2975 02:16:52,571 --> 02:16:56,942 THERE'S EXPERIMENTAL DATA, IN 2976 02:16:57,008 --> 02:16:59,110 VITRO ASSAYS AND DRUG SUBSTANCES 2977 02:16:59,177 --> 02:17:00,378 AND METABOLISM. 2978 02:17:00,445 --> 02:17:00,979 MAYBE YOU RECOGNIZE SOME 2979 02:17:01,046 --> 02:17:07,686 RESOURCES UP HERE. 2980 02:17:07,752 --> 02:17:09,287 ALL THIS DATA IS AT THE CORE OF 2981 02:17:09,354 --> 02:17:10,855 WHAT WE CAN DO WITH A.I. 2982 02:17:10,922 --> 02:17:12,691 TODAY I WANT TO TALK ABOUT HOW 2983 02:17:12,757 --> 02:17:14,960 WE'VE BEEN PUTTING A.I. TO WORK. 2984 02:17:15,026 --> 02:17:16,795 I'LL START BY USE CASES AND HOW 2985 02:17:16,861 --> 02:17:22,634 WE APPLY A.I. AND THEN I'LL END 2986 02:17:22,701 --> 02:17:24,669 WITH OF AN EXAMPLE OF HOW WE 2987 02:17:24,736 --> 02:17:26,071 BUILD UP THE DATA FOR A.I. 2988 02:17:26,137 --> 02:17:27,639 IN TERMS OF THE APPLICATIONS, 2989 02:17:27,706 --> 02:17:30,308 I'LL TALK ABOUT HOW WE IDENTIFY 2990 02:17:30,375 --> 02:17:32,711 DRUG CANDIDATES WITH HIGH 2991 02:17:32,777 --> 02:17:36,014 POTENCY AND REPURPOSE DRUGS AND 2992 02:17:36,081 --> 02:17:37,115 BIOLOGICAL MECHANISMS THAT CAN 2993 02:17:37,182 --> 02:17:38,550 BE TREATED. 2994 02:17:38,617 --> 02:17:39,985 SO BEFORE I GET INTO THE USE 2995 02:17:40,051 --> 02:17:42,687 CASES, I WANT TO GIVE YOU A VERY 2996 02:17:42,754 --> 02:17:44,022 BASIC VIEW OF HOW WE APPROACH 2997 02:17:44,089 --> 02:17:44,422 A.I. 2998 02:17:44,489 --> 02:17:49,361 IT'S ALL ABOUT THE INPUT, MODELS 2999 02:17:49,427 --> 02:17:51,129 AND OUTPUT AND VALIDATION. 3000 02:17:51,196 --> 02:17:55,233 THE INPUT DATA HAS TO BE A.I. 3001 02:17:55,300 --> 02:17:57,068 READY AND CAN BE AS SIMPLE AS 3002 02:17:57,135 --> 02:18:01,873 DATA TABLES. 3003 02:18:01,940 --> 02:18:03,008 MAYBE YOU HAVE DESCRIPTIONS 3004 02:18:03,074 --> 02:18:07,278 ABOUT DRUGS OR DISEASES OR 3005 02:18:07,345 --> 02:18:07,512 TARGETS. 3006 02:18:07,579 --> 02:18:10,281 THEN A FEWER WAY IS GRAPHS. 3007 02:18:10,348 --> 02:18:16,388 GRAPHS ARE NOTES AND EDGES. 3008 02:18:16,454 --> 02:18:19,524 YOU CAN SEE A COMPOUND GRAPH, 3009 02:18:19,591 --> 02:18:20,425 CAFFEINE, MAYBE SOME OF US NEED 3010 02:18:20,492 --> 02:18:22,060 A LITTLE BIT RIGHT NOW. 3011 02:18:22,127 --> 02:18:24,029 HAVE YOU EACH ATOM AND THEY HAVE 3012 02:18:24,095 --> 02:18:25,497 A PHYSICAL INTERACTION. 3013 02:18:25,563 --> 02:18:29,467 THOSE THE EDGES. 3014 02:18:29,534 --> 02:18:30,669 YOU CAN REPRESENTATIVE THOUSAND 3015 02:18:30,735 --> 02:18:33,872 OF MILLIONS OF MOLECULES IN THAT 3016 02:18:33,938 --> 02:18:34,239 WAY. 3017 02:18:34,305 --> 02:18:38,843 YOU CAN SEE A MORE ACCOMPLISHED 3018 02:18:38,910 --> 02:18:41,312 GRAPHING A HAIR BALL, IT 3019 02:18:41,379 --> 02:18:43,448 INCLUDES MANY SOURCES OF 3020 02:18:43,515 --> 02:18:45,583 INFORMATION, MAYBE CLINICAL, 3021 02:18:45,650 --> 02:18:49,154 INFORMATION FROM THE LITERATURE 3022 02:18:49,220 --> 02:18:52,824 OR GENOMIC INFORMATION. 3023 02:18:52,891 --> 02:18:54,292 WHEN YOU HAVE SUCH COMPLEX 3024 02:18:54,359 --> 02:18:56,861 GRAPHS OR HUMAN MIND THAT'S 3025 02:18:56,928 --> 02:18:58,530 WHERE THE MODEL COMES IN AND TWO 3026 02:18:58,596 --> 02:18:59,664 MAIN TYPES. 3027 02:18:59,731 --> 02:19:02,801 ONE ARE THE PREDICTION MODELS. 3028 02:19:02,867 --> 02:19:05,236 WITH THIS YOU NEED SOME TYPE OF 3029 02:19:05,303 --> 02:19:09,541 DATA YOU TRAIN THE MODEL ON. 3030 02:19:09,607 --> 02:19:11,609 YOU HAVE DRUG AND THEIR ACTIVITY 3031 02:19:11,676 --> 02:19:14,145 AND TRAIN THE ACTIVITY OF NEW 3032 02:19:14,212 --> 02:19:14,345 DRUGS. 3033 02:19:14,412 --> 02:19:18,883 ANOTHER TYPE IS A DISCOVERY 3034 02:19:18,950 --> 02:19:19,617 MODEL. 3035 02:19:19,684 --> 02:19:22,654 TAKE A COMPLEX GRAPH AND THERE'S 3036 02:19:22,721 --> 02:19:23,588 ALGORITHMS THAT WILL LOOK 3037 02:19:23,655 --> 02:19:24,956 THROUGH AND FIND PATTERNS. 3038 02:19:25,023 --> 02:19:28,059 NOW WE'RE GOING TO THE RESULTS 3039 02:19:28,126 --> 02:19:29,961 AND VALIDATION. 3040 02:19:30,028 --> 02:19:30,695 IN TERMS OF PREDICTION MODELS 3041 02:19:30,762 --> 02:19:32,063 THEY GIVE PREDICTIONS. 3042 02:19:32,130 --> 02:19:33,198 ARE THE DRUGS ACTIVE? 3043 02:19:33,264 --> 02:19:37,635 INACTIVE? 3044 02:19:37,702 --> 02:19:39,237 YOU WANT TO VALIDATE THIS MORE 3045 02:19:39,304 --> 02:19:44,709 AND MAY WANT TO LOOK AT THE 3046 02:19:44,776 --> 02:19:45,343 ACCURACY PREDICTING THE ACCESS 3047 02:19:45,410 --> 02:19:49,581 OR INACCESS. 3048 02:19:49,647 --> 02:19:54,552 THEY'RE JUST PREDICTIONS. 3049 02:19:54,619 --> 02:19:55,220 SOMETIMES THEY'RE WRONG SO YOU 3050 02:19:55,286 --> 02:19:57,122 HAVE TO VALIDATE THE MODELS. 3051 02:19:57,188 --> 02:19:58,323 FOR DISCOVERY YOU FIND AREAS OF 3052 02:19:58,389 --> 02:20:04,095 THE GRAPH THAT MAYBE YOU CAN 3053 02:20:04,162 --> 02:20:04,596 INVESTIGATE MORE INTO. 3054 02:20:04,662 --> 02:20:09,467 I'VE NOTED SOME EXAMPLES AND 3055 02:20:09,534 --> 02:20:12,036 MAYBE THERE'S A CLUSTER OF DRUGS 3056 02:20:12,103 --> 02:20:13,271 LOW ACTIVITY WOULD BE WORTH 3057 02:20:13,338 --> 02:20:20,712 LOOKING INTO. 3058 02:20:20,779 --> 02:20:24,382 LET ME GIVE YOU REAL EXAMPLES. 3059 02:20:24,449 --> 02:20:29,954 YOU IDENTIFY COMPOUNDS THAT 3060 02:20:30,021 --> 02:20:34,092 PREVENTS SARS COV2 FROM ENTERING 3061 02:20:34,159 --> 02:20:35,460 THE CELLS. 3062 02:20:35,527 --> 02:20:39,097 THE THERE WERE 170,000 COMPOUNDS 3063 02:20:39,164 --> 02:20:41,499 AND THERE WAS A GRAPH 3064 02:20:41,566 --> 02:20:44,002 CONVOLUTION NETWORK A DEEP 3065 02:20:44,068 --> 02:20:45,904 LEARNING MODEL THAT PREDICT THE 3066 02:20:45,970 --> 02:20:46,738 ACTIVITY OF THE DRUGS. 3067 02:20:46,805 --> 02:20:53,178 USING THIS WE WERE ABLE TO NA 3068 02:20:53,244 --> 02:20:58,616 NAFRO -- NARROW 2,000 COMPOUNDS 3069 02:20:58,683 --> 02:21:00,685 AND FROM THOSE 27 UNDERWENT A 3070 02:21:00,752 --> 02:21:05,089 MORE SPECIFIC ASSAY. 3071 02:21:05,156 --> 02:21:07,058 THIS SHOWS HOW A.I. IS A FAST 3072 02:21:07,125 --> 02:21:09,460 AND NOVEL APPROACH AND GOING 3073 02:21:09,527 --> 02:21:12,096 FROM 170,000 TO 27 AND TOP HITS 3074 02:21:12,163 --> 02:21:21,406 SHOWED HIGH EFFICIENT. 3075 02:21:21,472 --> 02:21:26,878 ANOTHER EXAMPLE IS USING A.I. TO 3076 02:21:26,945 --> 02:21:28,680 IDENTIFY ANOTHER REPURPOSED 3077 02:21:28,746 --> 02:21:29,013 DRUGS. 3078 02:21:29,080 --> 02:21:30,615 THERE WERE INFORMATION ABOUT 3079 02:21:30,682 --> 02:21:33,117 DRUG TARGETS AND BIO CHEMICAL 3080 02:21:33,184 --> 02:21:34,652 PATHWAYS MERGED TO A COMPLEX 3081 02:21:34,719 --> 02:21:38,056 GRAPH AND FROM THIS WE APPLIED 3082 02:21:38,122 --> 02:21:39,791 NATURAL LANGUAGE PROCESSING 3083 02:21:39,858 --> 02:21:44,028 METHODS TO IDENTIFY CLUSTERS OF 3084 02:21:44,095 --> 02:21:44,596 RARE DISEASES. 3085 02:21:44,662 --> 02:21:45,730 WE FOUND 35. 3086 02:21:45,797 --> 02:21:48,333 ONE WE WERE SUPER INTERESTED IN 3087 02:21:48,399 --> 02:21:50,602 INCLUDING GLIAL BLASTOMA. 3088 02:21:50,668 --> 02:21:51,603 ON THE BOTTOM LEVEL YOU CAN SEE 3089 02:21:51,669 --> 02:21:54,305 HOW WE LOOKED MORE INTO THE 3090 02:21:54,372 --> 02:21:58,243 CLUSTER WITH ENRICHING 3091 02:21:58,309 --> 02:21:59,143 INFORMATION FROM A RARE DISEASE 3092 02:21:59,210 --> 02:22:01,145 NETWORK BUILT INCLUDING 3093 02:22:01,212 --> 02:22:05,550 INFORMATION ON PUBLICATIONS AND 3094 02:22:05,617 --> 02:22:07,185 GRANTS AND MORE. 3095 02:22:07,252 --> 02:22:11,456 SOME FROM THE RARE DISEASE ALERT 3096 02:22:11,522 --> 02:22:12,624 SYSTEM PRESENTED HERE. 3097 02:22:12,690 --> 02:22:15,627 WE CAN LOOK FOR THE AREAS MOST 3098 02:22:15,693 --> 02:22:16,027 INTERESTING. 3099 02:22:16,094 --> 02:22:19,864 FROM THIS THERE'S ONE CANDIDATE, 3100 02:22:19,931 --> 02:22:23,134 VK0214 THAT IS DESIGNATED AS AN 3101 02:22:23,201 --> 02:22:26,371 ORPHAN DRUG BY THE FDA FOR 3102 02:22:26,437 --> 02:22:28,640 TREATING ASLD AND IDENTIFIED AS 3103 02:22:28,706 --> 02:22:30,108 A CANDIDATE. 3104 02:22:30,174 --> 02:22:32,076 IT'S UNDERGOING EXPERIMENTAL 3105 02:22:32,143 --> 02:22:34,345 VALIDATION AND THE RESULTS LOOK 3106 02:22:34,412 --> 02:22:39,717 GOOD SO STAY TUNED AS THE STORY 3107 02:22:39,784 --> 02:22:44,389 CONTINUES TO UNFOLD. 3108 02:22:44,455 --> 02:22:46,557 THE LAST USE CASE IS IDENTIFYING 3109 02:22:46,624 --> 02:22:48,726 NOVEL MECHANISMS. 3110 02:22:48,793 --> 02:22:51,896 OUR GOAL WAS TO UNDERSTAND THE 3111 02:22:51,963 --> 02:22:54,599 MECHANISM UNDERSTAND IGE. 3112 02:22:54,666 --> 02:22:56,768 THEY'RE IMPORTANT BECAUSE HIGH 3113 02:22:56,834 --> 02:22:58,636 LEVELS ARE ASSOCIATED WITH 3114 02:22:58,703 --> 02:23:01,539 POORER CLINICAL OUTCOMES IN 3115 02:23:01,606 --> 02:23:03,107 PEDIATRICAGES MA PATIENTS AND 3116 02:23:03,174 --> 02:23:07,111 TREATING PATIENTS WITH ANTI-IGE 3117 02:23:07,178 --> 02:23:09,347 HAS HETEROGENOUS EFFECTS. 3118 02:23:09,414 --> 02:23:16,220 WE HAD GENOMIC DATA AND 3119 02:23:16,287 --> 02:23:26,597 METABOLOMIC DATA. 3120 02:23:32,203 --> 02:23:36,240 THE MODELS HAD TO SIFT THROUGH 3121 02:23:36,307 --> 02:23:41,412 12 MILLION PAIRED INTERACTIONS. 3122 02:23:41,479 --> 02:23:51,956 WHAT WE FOUND IS THAT GAU 3123 02:23:58,696 --> 02:23:59,630 GAUNINOASSETIC ACID WERE 3124 02:23:59,697 --> 02:24:01,132 CONSISTENT THE RESULTS ARE QUITE 3125 02:24:01,199 --> 02:24:11,342 ROBUST. 3126 02:24:18,483 --> 02:24:21,152 AND WE WANTED TO TALK ABOUT HOW 3127 02:24:21,219 --> 02:24:22,353 TO ADVANCE THERAPEUTIC 3128 02:24:22,420 --> 02:24:23,021 DEVELOPMENT. 3129 02:24:23,087 --> 02:24:24,655 THIS IS AN ONGOING EFFORT WE'RE 3130 02:24:24,722 --> 02:24:26,724 TRYING TO TAKE OFF AND THERE'S A 3131 02:24:26,791 --> 02:24:27,358 LOT OF MODEL AND DATA GENERATION 3132 02:24:27,425 --> 02:24:29,761 INVOLVED HERE. 3133 02:24:29,827 --> 02:24:32,663 INCLUDING GENERATING AND 3134 02:24:32,730 --> 02:24:37,001 DEVELOPING PATIENT DERIVED 3135 02:24:37,068 --> 02:24:45,143 MODELS AND A.I. AND M.L. 3136 02:24:45,209 --> 02:24:46,811 PREDICTIONS AND IT WILL CREATE A 3137 02:24:46,878 --> 02:24:49,714 RICH DATA SET FOR THE RARE 3138 02:24:49,781 --> 02:24:52,683 DISEASE COMMUNITY TO IDENTIFY 3139 02:24:52,750 --> 02:24:55,453 NEW TREATMENTS. 3140 02:24:55,520 --> 02:24:58,156 NOW I'M GOING SWITCH GEARS A 3141 02:24:58,222 --> 02:24:59,357 LITTLE BIT AND TALK ABOUT DATA. 3142 02:24:59,424 --> 02:25:02,760 IT'S AT THE CORE OF ALL OF THIS. 3143 02:25:02,827 --> 02:25:06,097 I'D LIKE TO HIGHLIGHT THE M CATS 3144 02:25:06,164 --> 02:25:08,132 TRANSLATOR PROGRAM A PLATFORM TO 3145 02:25:08,199 --> 02:25:11,069 ENRICH RESEARCHERS WITH 3146 02:25:11,135 --> 02:25:12,070 KNOWLEDGE. 3147 02:25:12,136 --> 02:25:13,538 IT COMBINES INFORMATION FROM 3148 02:25:13,604 --> 02:25:14,072 COMPLEMENTARY SOURCES OF 3149 02:25:14,138 --> 02:25:15,139 INFORMATION THAT SPAN THE WIDE 3150 02:25:15,206 --> 02:25:19,744 RANGE OF TRANSLATIONAL RESEARCH. 3151 02:25:19,811 --> 02:25:21,646 FROM BASIC PRE CLINICAL TO 3152 02:25:21,712 --> 02:25:22,780 CLINICAL RESEARCH. 3153 02:25:22,847 --> 02:25:25,483 IN ORDER TO DO THIS THERE'S 3154 02:25:25,550 --> 02:25:26,350 STANDARDIZATIONS INVOLVED. 3155 02:25:26,417 --> 02:25:32,423 LOT OF NITTY-GRITTY CURATION 3156 02:25:32,490 --> 02:25:33,324 INVOLVED AND EMPHASIS PLACED ON 3157 02:25:33,391 --> 02:25:34,759 THE DETAILS AND TRUST. 3158 02:25:34,826 --> 02:25:36,561 WHERE DOES THE INFORMATION COME 3159 02:25:36,627 --> 02:25:36,761 FROM? 3160 02:25:36,828 --> 02:25:43,701 IS IT TRUSTWORTHY? 3161 02:25:43,768 --> 02:25:45,837 THIS IS A LARGE CONSORTIUM 3162 02:25:45,903 --> 02:25:46,471 EFFORT. 3163 02:25:46,537 --> 02:25:47,538 ONE PRODUCT THAT CAME FROM THE 3164 02:25:47,605 --> 02:25:48,973 TOP RIGHT IS A WEB APPLICATION. 3165 02:25:49,040 --> 02:25:51,242 YOU CAN CHECK IT OUT. 3166 02:25:51,309 --> 02:25:52,743 FROM THIS APPLICATION ONE CAN 3167 02:25:52,810 --> 02:25:54,879 ASK QUESTIONS OF THE DATA. 3168 02:25:54,946 --> 02:25:55,813 ONE INTERESTING QUESTION THAT 3169 02:25:55,880 --> 02:25:59,650 CAN BE ASKED IS WA CHEMICALS MAY 3170 02:25:59,717 --> 02:26:00,618 UPREGULATE WHAT GENE? 3171 02:26:00,685 --> 02:26:03,421 I WANT TO GIVE AN EXAMPLE ON THE 3172 02:26:03,488 --> 02:26:05,890 USE CASE WITH SHINE SYNDROME. 3173 02:26:05,957 --> 02:26:12,563 IT'S ALSO CALLED DLG4 AND IT 3174 02:26:12,630 --> 02:26:13,831 LOSES ITS FUNCTION IN THESE 3175 02:26:13,898 --> 02:26:14,098 PATIENTS. 3176 02:26:14,165 --> 02:26:20,805 SO TRANSLATOR WAS USED TO ASK 3177 02:26:20,872 --> 02:26:22,907 WHAT CHEMICALS CAN UP REGULATE 3178 02:26:22,974 --> 02:26:25,143 DLG4 TO GO BACK TO NORMAL 3179 02:26:25,209 --> 02:26:26,043 LEVELS. 3180 02:26:26,110 --> 02:26:30,081 THE RESULTS WERE EVALUATED BY 3181 02:26:30,148 --> 02:26:35,753 PHYSICIANS AND EXPERTS AND 3182 02:26:35,820 --> 02:26:37,321 GAUNFACINE WAS DEEMED WORTH 3183 02:26:37,388 --> 02:26:47,532 TRYING. 3184 02:26:48,232 --> 02:26:51,536 AND A PATIENT WAS TREATED WITH 3185 02:26:51,602 --> 02:26:53,671 THIS AND HAD IMPROVEMENTS AND ON 3186 02:26:53,738 --> 02:26:57,108 THE RIGHT YOU CAN SEE THIS 3187 02:26:57,175 --> 02:26:57,508 BEAUTIFUL DRAWING. 3188 02:26:57,575 --> 02:27:04,215 EVERYTHING'S NICELY DRAWN. 3189 02:27:04,282 --> 02:27:06,450 ANOTHER LARGE DATA COLLECTION 3190 02:27:06,517 --> 02:27:09,120 EFFORT IS CURE I.D. 3191 02:27:09,187 --> 02:27:11,389 HERE THIS PLATFORM IS ABOUT 3192 02:27:11,455 --> 02:27:15,593 CAPTURING NOVEL USES OF EXISTING 3193 02:27:15,660 --> 02:27:16,861 DRUGS MAINLY FOR DRUG 3194 02:27:16,928 --> 02:27:17,728 REPURPOSING EFFORTS. 3195 02:27:17,795 --> 02:27:19,664 THERE'S NEW FRAME WORKS I'D LIKE 3196 02:27:19,730 --> 02:27:22,333 TO HIGHLIGHT RECENTLY THERE 3197 02:27:22,400 --> 02:27:23,935 WAS -- YOU CAN GO TO THE 3198 02:27:24,001 --> 02:27:26,237 APPLICATION AND SEE ON THE 3199 02:27:26,304 --> 02:27:31,075 BOTTOM LEFT ALSO FOR THE SITE 3200 02:27:31,142 --> 02:27:32,610 BUT PATIENTS CAN INPUT THEIR 3201 02:27:32,677 --> 02:27:34,145 TREATMENTS FOR LONG COVID. 3202 02:27:34,212 --> 02:27:37,248 WE'RE TRYING TO GET TO 1,000 3203 02:27:37,315 --> 02:27:38,716 ENTRIES. 3204 02:27:38,783 --> 02:27:40,651 IF I OR ANYONE YOU KNOW HAS 3205 02:27:40,718 --> 02:27:45,122 SUFFERED FROM LONG COVID, 3206 02:27:45,189 --> 02:27:47,525 CONSIDER FILLING OUT THE FORM. 3207 02:27:47,592 --> 02:27:49,694 I WANT TO HIGHLIGHT WHILE THIS 3208 02:27:49,760 --> 02:27:51,529 IS SPECIFIC TO LONG COVID RIGHT 3209 02:27:51,596 --> 02:27:57,101 NOW THE STRUCTURE IS NOW IN 3210 02:27:57,168 --> 02:27:57,301 PLACE. 3211 02:27:57,368 --> 02:28:02,673 THIS PROJECT WE'RE STARTING TO 3212 02:28:02,740 --> 02:28:04,175 FOCUS MORE ON RARE CANCERS AND 3213 02:28:04,242 --> 02:28:05,776 RARE GENETIC DISORDERS AS WELL. 3214 02:28:05,843 --> 02:28:09,113 THIS IS AN AREA TO LOOK FOR 3215 02:28:09,180 --> 02:28:11,849 HERE. 3216 02:28:11,916 --> 02:28:13,317 I WANT TO END WITH THIS SLIDE 3217 02:28:13,384 --> 02:28:15,553 BUZ I THINK A.I. IS VERY 3218 02:28:15,620 --> 02:28:16,120 PROMISING. 3219 02:28:16,187 --> 02:28:18,823 HOWEVER, IT REQUIRES US TO HAVE 3220 02:28:18,889 --> 02:28:21,692 TRUST IN BOTH THE DATA AND 3221 02:28:21,759 --> 02:28:22,360 MODELS. 3222 02:28:22,426 --> 02:28:27,131 SO WHAT I'M SHOWING HERE WITH 3223 02:28:27,198 --> 02:28:32,637 THIS PLOT ON THE Y AXIS YOU SEE 3224 02:28:32,703 --> 02:28:34,472 THE DATA AND THE MODELS. 3225 02:28:34,538 --> 02:28:36,907 YOU HAVE HIGHER QUALITY DATA AND 3226 02:28:36,974 --> 02:28:39,644 APPROPRIATENESS OF THE DATA AND 3227 02:28:39,710 --> 02:28:40,611 INTEROPERABILITY AND MACHINE 3228 02:28:40,678 --> 02:28:42,713 LEARNING AND READINESS AND 3229 02:28:42,780 --> 02:28:43,948 DIVERSITY. 3230 02:28:44,015 --> 02:28:44,615 DIVERSITY HERE IS IMPORTANT. 3231 02:28:44,682 --> 02:28:47,518 THE RARE DISEASE PATIENTS HAVE 3232 02:28:47,585 --> 02:28:48,185 TO BE REPRESENTED IN THE DATA 3233 02:28:48,252 --> 02:28:51,188 FOR US TO BE ABLE TO MAKE 3234 02:28:51,255 --> 02:28:52,723 MEANINGFUL PREDICTIONS FROM THE 3235 02:28:52,790 --> 02:28:56,394 COMMUNITY. 3236 02:28:56,460 --> 02:28:59,263 ON THE X WE WANT ROBUSTNESS TO 3237 02:28:59,330 --> 02:29:00,865 INCREASE AND MODELS TO BE 3238 02:29:00,931 --> 02:29:02,066 VALIDATED AND APPROPRIATE. 3239 02:29:02,133 --> 02:29:04,902 THE IDEA IF YOU START ON THE 3240 02:29:04,969 --> 02:29:09,373 BOTTOM LEFT YOU GET A BLURRY 3241 02:29:09,440 --> 02:29:09,807 PICTURE. 3242 02:29:09,874 --> 02:29:12,009 YOU GO TO THE UPPER RIGHT 3243 02:29:12,076 --> 02:29:13,311 QUADRANT YOU GET A CLEAR PICTURE 3244 02:29:13,377 --> 02:29:15,179 OF WHAT THE DATA IS TELLING YOU 3245 02:29:15,246 --> 02:29:19,583 AND PREDICTIONS YOU CAN MAKE. 3246 02:29:19,650 --> 02:29:20,618 I'LL END THERE. 3247 02:29:20,685 --> 02:29:22,553 THANK YOU FOR YOUR ATTENTION. 3248 02:29:22,620 --> 02:29:24,989 I'VE TALKED A LITTLE ABOUT MANY 3249 02:29:25,056 --> 02:29:25,823 PROJECTS. 3250 02:29:25,890 --> 02:29:28,693 THESE ARE LARGE PROGRAMS 3251 02:29:28,759 --> 02:29:31,529 INCLUDING COLLABORATORS WITHIN 3252 02:29:31,595 --> 02:29:33,531 NCATS AND FDA AND A LOT OF 3253 02:29:33,597 --> 02:29:34,532 ACADEMIC INSTITUTIONS AND I WANT 3254 02:29:34,598 --> 02:29:37,902 TO HIGHLIGHT WE HAVE POSTERS AND 3255 02:29:37,968 --> 02:29:40,171 BOOTHS FOR THE RARE DISEASE 3256 02:29:40,237 --> 02:29:42,206 ALERT SYSTEM, CURE I. AND 3257 02:29:42,273 --> 02:29:42,506 TRANSLATORS. 3258 02:29:42,573 --> 02:29:42,873 CHECK THEM OUT. 3259 02:29:42,940 --> 02:29:53,117 THANK YOU. 3260 02:30:00,524 --> 02:30:04,729 >> THANK YOU, ALL PANELISTS AND 3261 02:30:04,795 --> 02:30:06,197 BRIEF REMINDER FOLKS CAN COME UM 3262 02:30:06,263 --> 02:30:09,433 TO THE MICS AND ASK QUESTIONS AS 3263 02:30:09,500 --> 02:30:19,610 WELL. 3264 02:30:29,787 --> 02:30:30,388 THANK YOU ALL SO MUCH. 3265 02:30:30,454 --> 02:30:32,356 THOSE WERE GREAT PRESENTATIONS. 3266 02:30:32,423 --> 02:30:34,959 YOU TALKED ABOUT THE CONCEPT OF 3267 02:30:35,025 --> 02:30:35,359 DEMYSTIFYING A.I. 3268 02:30:35,426 --> 02:30:38,129 IT SEEMS LIKE IT'S KEY TO HAVE 3269 02:30:38,195 --> 02:30:39,196 MEANINGFUL CONVERSATIONS AND 3270 02:30:39,263 --> 02:30:42,199 CONNECTIONS WITH A WIDE RANGE OF 3271 02:30:42,266 --> 02:30:42,867 AUDIENCES. 3272 02:30:42,933 --> 02:30:43,901 HOW DO YOU ALL MEANINGFULLY 3273 02:30:43,968 --> 02:30:45,770 ENGAGE WITH PATIENTS IN YOUR 3274 02:30:45,836 --> 02:30:47,605 WORK AND INCREASE THE 3275 02:30:47,671 --> 02:30:48,839 UNDERSTANDING OF A.I. SO 3276 02:30:48,906 --> 02:30:49,707 PATIENTS CAN MAKE THE BEST 3277 02:30:49,774 --> 02:30:50,708 DECISIONS FOR THEMSELVES? 3278 02:30:50,775 --> 02:30:54,145 >> IT'S A GREAT QUESTION. 3279 02:30:54,211 --> 02:30:57,014 FIRST AND FOREMOST PARTNERING, 3280 02:30:57,081 --> 02:30:59,150 INCREASING AWARENESS AND 3281 02:30:59,216 --> 02:31:02,086 EDUCATION ABOUT YOUR DATA. 3282 02:31:02,153 --> 02:31:04,522 WE HEARD FROM THE NIH TALKING 3283 02:31:04,588 --> 02:31:11,061 ABOUT VOLUNTEERING YOUR DATA 3284 02:31:11,128 --> 02:31:12,897 THOSE ARE CHOICES YOU NEED TO 3285 02:31:12,963 --> 02:31:15,065 MAKE IN THE FUTURE AND BEING 3286 02:31:15,132 --> 02:31:17,001 EDUCATED AS POSSIBLE KNOWING THE 3287 02:31:17,067 --> 02:31:20,037 GOOD THAT CAN COME FROM THE 3288 02:31:20,104 --> 02:31:21,505 TALKS KNOWING WE FOUND NEW 3289 02:31:21,572 --> 02:31:25,142 GENETIC DISEASES AND PATIENTS 3290 02:31:25,209 --> 02:31:26,143 STRUGGLING WITH THE DIAGNOSIS 3291 02:31:26,210 --> 02:31:29,013 AND WE FOUND A TREATMENT THAT 3292 02:31:29,079 --> 02:31:37,655 WORKED. 3293 02:31:37,721 --> 02:31:41,959 IT'S SCARY KNOWING A COMPUTER IS 3294 02:31:42,026 --> 02:31:43,794 SEARCHING BUT IT'S VALIDATED THE 3295 02:31:43,861 --> 02:31:45,062 DATA NEEDS TO BE ROW BEST AND 3296 02:31:45,129 --> 02:31:47,031 MATH IS CHECKED AND IF IT'S 3297 02:31:47,097 --> 02:31:48,866 CHECK AND ACCURATE IT'S GIVING 3298 02:31:48,933 --> 02:31:50,768 PREDICTS AND PREDICTIONS, IF THE 3299 02:31:50,835 --> 02:31:56,507 MATH IS RIGHT, CAN PREDICT 3300 02:31:56,574 --> 02:31:58,709 THINGS IN A GOOD WAY BUT IF THE 3301 02:31:58,776 --> 02:31:59,977 MATH ISN'T BAD GOOD IT CAN MAKE 3302 02:32:00,044 --> 02:32:04,248 YOU WORRY. 3303 02:32:04,315 --> 02:32:05,483 THIS TYPE OF EDUCATION WILL TAKE 3304 02:32:05,549 --> 02:32:06,784 THE COMMUNITY TO BE EDUCATED AND 3305 02:32:06,851 --> 02:32:08,686 LITERAL IN TERMS OF DATA AND 3306 02:32:08,752 --> 02:32:11,489 UNDERSTANDING THE POWER. 3307 02:32:11,555 --> 02:32:14,592 WE SEE THE RARE DISEASE 3308 02:32:14,658 --> 02:32:15,226 COMMUNITY TWOIL GIVE THEIR DATA. 3309 02:32:15,292 --> 02:32:17,127 THERE'S A NUMBER OF GROUPS THAT 3310 02:32:17,194 --> 02:32:22,266 HOUSE THIS DATA TO UNDERSTAND 3311 02:32:22,333 --> 02:32:31,809 MORE. 3312 02:32:31,876 --> 02:32:35,980 >> WE NEED TO DO WORK IN THE 3313 02:32:36,046 --> 02:32:38,082 TRUST OF THE PATIENTS. 3314 02:32:38,148 --> 02:32:39,984 A.I. DOESN'T MEAN YEAR 3315 02:32:40,050 --> 02:32:42,019 ELIMINATING HUMANS WE'RE JUST 3316 02:32:42,086 --> 02:32:43,921 ENHANCING HUMAN CAPABILITIES. 3317 02:32:43,988 --> 02:32:50,628 TO TRUST PATIENT THE PROCESS CAN 3318 02:32:50,694 --> 02:33:01,238 WORK IS ENGAGING WITH COMMUNITY 3319 02:33:06,343 --> 02:33:06,544 STAKEHOLDERS. 3320 02:33:06,610 --> 02:33:11,081 >> IT'S ALSO IMPORTANT FOR 3321 02:33:11,148 --> 02:33:14,618 PATIENTS TO CONTINUE ASKING HOW 3322 02:33:14,685 --> 02:33:17,021 THE DATA IS BEING USED. 3323 02:33:17,087 --> 02:33:18,989 WHAT'S IT MEAN, ARE THERE 3324 02:33:19,056 --> 02:33:21,358 DIFFERENT WAYS THE DATA COULD BE 3325 02:33:21,425 --> 02:33:22,293 PROVIDED FOR A.I. AND DEMAND A 3326 02:33:22,359 --> 02:33:22,860 LITTLE BIT. 3327 02:33:22,927 --> 02:33:25,129 AT THE END OF THE DAY IF 3328 02:33:25,195 --> 02:33:25,863 PATIENTS ARE GIVING SOMETHING 3329 02:33:25,930 --> 02:33:29,300 AND I VIEW IT AS A GIFT TO HAVE 3330 02:33:29,366 --> 02:33:33,437 ACCESS TO ALL THE DATA, WELL, 3331 02:33:33,504 --> 02:33:42,246 WHAT IN RETURN ARE YOU GETTING? 3332 02:33:42,313 --> 02:33:43,948 THE MORE DATA WE'LL GO FROM THE 3333 02:33:44,014 --> 02:33:45,382 POPULATION VIEW TO THE 3334 02:33:45,449 --> 02:33:46,550 INDIVIDUAL IMPACT AND SOMETIMES 3335 02:33:46,617 --> 02:33:54,058 THAT'S CHALLENGING TO MAKE. 3336 02:33:54,124 --> 02:33:56,594 >> HOW YOUR DATA IS BEING USED 3337 02:33:56,660 --> 02:34:00,998 AND THERE'S WORK IN THAT SPACE. 3338 02:34:01,065 --> 02:34:05,936 GOING INTO THAT AREA GIVEN THE 3339 02:34:06,003 --> 02:34:09,139 CRITICAL NATURE OF A.I. USE IN 3340 02:34:09,206 --> 02:34:13,143 RARE DISEASE RESEARCH AND M 3341 02:34:13,210 --> 02:34:15,713 MEDICAL ISSUES WHERE YOU HAVE 3342 02:34:15,779 --> 02:34:19,583 SAFETY AND URGENCY, HOW DO YOUR 3343 02:34:19,650 --> 02:34:22,753 GROUPS TEST OR ASSESS THE 3344 02:34:22,820 --> 02:34:27,057 ALGORITHMS BEFORE PUTTING THEM 3345 02:34:27,124 --> 02:34:28,225 INTO PRACTICE? 3346 02:34:28,292 --> 02:34:30,628 >> THE ALGORITHM PROCESS NEEDS 3347 02:34:30,694 --> 02:34:32,563 IT TAKE TIME AND WE NEED TO KEEP 3348 02:34:32,630 --> 02:34:35,199 TRAINING THE ALGORITHM AND 3349 02:34:35,265 --> 02:34:38,802 VALIDATING THE ALGORITHM. 3350 02:34:38,869 --> 02:34:41,405 WE HAVE USED HUMANS TO TRIAGE 3351 02:34:41,472 --> 02:34:51,181 WHAT THE ALGORITHM IS PINGING UP 3352 02:34:51,248 --> 02:34:56,620 QUE NEED TO KEEP IMPROVING THEAL 3353 02:34:56,687 --> 02:34:56,854 RIDGES. 3354 02:34:56,920 --> 02:35:00,324 -- ALGORITHM. 3355 02:35:00,391 --> 02:35:00,491 . 3356 02:35:00,557 --> 02:35:03,327 >> THESE ARE PREDICTIONS AND 3357 02:35:03,394 --> 02:35:05,429 YOUR HEALTH CARE PRACTITIONER 3358 02:35:05,496 --> 02:35:08,165 NEEDS TO USE IT AS A SUPPLEMENT 3359 02:35:08,232 --> 02:35:09,767 IN CASE VALIDATIONS, LOOKING DO 3360 02:35:09,833 --> 02:35:16,740 WE AGREE WITH WHAT THE COMPUTER 3361 02:35:16,807 --> 02:35:24,648 SUGGESTED? 3362 02:35:24,715 --> 02:35:30,521 WE'LL SEE IF IT PREDICTS AND 3363 02:35:30,587 --> 02:35:32,890 THEY'RE ESSENTIAL BEFORE IT'S 3364 02:35:32,956 --> 02:35:33,323 NOT WILD. 3365 02:35:33,390 --> 02:35:35,125 THE TESTING AND VALIDATION IS 3366 02:35:35,192 --> 02:35:38,062 ESSENTIAL TO BUILD THAT TRUST AT 3367 02:35:38,128 --> 02:35:40,197 THE MATH CAN WORK AND IT STILL 3368 02:35:40,264 --> 02:35:41,598 NEEDS THE HUMAN TO SAY DOES THIS 3369 02:35:41,665 --> 02:35:51,108 MAKE SENSE. 3370 02:35:51,175 --> 02:35:52,743 >> USING OUR HUMAN BRAINS AT THE 3371 02:35:52,810 --> 02:36:00,718 END IS THE MOST IMPORTANT THING. 3372 02:36:00,784 --> 02:36:02,753 AT THE END OF THE DAY, HEALTH IS 3373 02:36:02,820 --> 02:36:03,320 MORE IMPORTANT THEN PURPLE 3374 02:36:03,387 --> 02:36:12,396 DRESS. 3375 02:36:12,463 --> 02:36:17,101 QUESTIONING THE RESULTS AND 3376 02:36:17,167 --> 02:36:18,235 MAKING SURE IT MAKES SENSE. 3377 02:36:18,302 --> 02:36:20,838 THERE'S IMPACT FROM THE 3378 02:36:20,904 --> 02:36:22,106 ENVIRONMENT AND AGAIN HAVING 3379 02:36:22,172 --> 02:36:24,742 ACCESS TO ALL THIS INFORMATION 3380 02:36:24,808 --> 02:36:25,909 IS REALLY DIFFICULT. 3381 02:36:25,976 --> 02:36:27,778 MAKING SURE TO VALIDATE THE MATH 3382 02:36:27,845 --> 02:36:33,484 BUT ALSO VALIDATE THE MEANING 3383 02:36:33,550 --> 02:36:34,752 DOES IT MAKE SENSE FOR MY 3384 02:36:34,818 --> 02:36:38,989 CONTEXT IS IMPORTANT. 3385 02:36:39,056 --> 02:36:40,791 >> TALKING ABOUT THE DATA AND 3386 02:36:40,858 --> 02:36:45,796 THE QUESTION BEING ASKED. 3387 02:36:45,863 --> 02:36:46,497 >> APOLOGIZE. 3388 02:36:46,563 --> 02:36:52,770 I CAME IN LATE AND I'M GOING 3389 02:36:52,836 --> 02:37:01,311 APOLOGIZE BECAUSE -- MANISHA 3390 02:37:01,378 --> 02:37:02,780 BALWANI, IT IMMEDIATELY CAME TO 3391 02:37:02,846 --> 02:37:08,118 MY MIND AND A MISSED PART OF 3392 02:37:08,185 --> 02:37:12,990 YOUR PRESENTATION YOU MUST BE 3393 02:37:13,056 --> 02:37:15,893 USING E RECORDS AS PART OF THE 3394 02:37:15,959 --> 02:37:16,393 SEARCH. 3395 02:37:16,460 --> 02:37:18,295 I'VE BEEN DEALING WITH THE 3396 02:37:18,362 --> 02:37:19,696 NEWBORN SCREENING 3397 02:37:19,763 --> 02:37:21,131 REAUTHORIZATION WITH THE GENETIC 3398 02:37:21,198 --> 02:37:31,041 COMPONENT. 3399 02:37:31,108 --> 02:37:32,943 THE USE OF PRIOR DATA AND 3400 02:37:33,010 --> 02:37:40,017 CONSENT IS A HUGE ISSUE. 3401 02:37:40,083 --> 02:37:42,586 I LOVE WHAT YOU'RE DOING BUT 3402 02:37:42,653 --> 02:37:44,154 WHERE IN YOUR PROCESS WITH E 3403 02:37:44,221 --> 02:37:45,823 RECORDS ON PAST INFORMATION DID 3404 02:37:45,889 --> 02:37:55,265 YOU GET CONCEPT FROM PATIENTS? 3405 02:37:55,332 --> 02:38:00,771 >> AS PART OF THE PROCESS IRB 3406 02:38:00,838 --> 02:38:02,673 GAVE US PERMISSION AND WE HAD TO 3407 02:38:02,739 --> 02:38:04,741 CONSENT PATIENTS IN ORDER TO USE 3408 02:38:04,808 --> 02:38:06,176 THE INFORMATION IN THE 3409 02:38:06,243 --> 02:38:07,010 ELECTRONIC HEALTH RECORDS. 3410 02:38:07,077 --> 02:38:14,384 I THINK YOU BRING UP AN 3411 02:38:14,451 --> 02:38:22,125 IMPORTANT POINT WHICH IS IT WAS 3412 02:38:22,192 --> 02:38:24,628 GREAT WE RECEIVED PERMISSION TO 3413 02:38:24,695 --> 02:38:31,501 REVIEW THE RECORDS BUT WE CAN 3414 02:38:31,568 --> 02:38:33,604 SEE THESE BEING IMPORTANT IN THE 3415 02:38:33,670 --> 02:38:36,206 SPACE. 3416 02:38:36,273 --> 02:38:39,176 >> WE'RE TALKING ABOUT TRUST. 3417 02:38:39,243 --> 02:38:41,144 BEING FROM A LIBERTARIAN STATE 3418 02:38:41,211 --> 02:38:46,783 AND EXPOSED TO LIBERTARIAN 3419 02:38:46,850 --> 02:38:50,988 THINKING PART IS A DID TRUST OF 3420 02:38:51,054 --> 02:38:51,288 GOVERNMENT. 3421 02:38:51,355 --> 02:38:53,257 IF THE CONSENT IS AT THE 3422 02:38:53,323 --> 02:38:58,362 BEGINNING, LIKELY THEY WON'T 3423 02:38:58,428 --> 02:39:02,566 GRANT IT BUT IF THEY DIDN'T 3424 02:39:02,633 --> 02:39:04,067 GRANT IT YOU'RE PROBABLY IN A 3425 02:39:04,134 --> 02:39:05,035 BETTER POSITION BECAUSE THE 3426 02:39:05,102 --> 02:39:09,139 TRUST STARTS AT THE BEGINNING IF 3427 02:39:09,206 --> 02:39:12,676 THAT MAKES SENSE. 3428 02:39:12,743 --> 02:39:14,311 >> THAT MAKES SENSE AND NEEDS TO 3429 02:39:14,378 --> 02:39:15,479 BE AT THE CENTER AND NEEDS TO BE 3430 02:39:15,545 --> 02:39:17,147 A CONTINUED CONVERSATION. 3431 02:39:17,214 --> 02:39:19,216 >> IT BRINGS UP OTHER ETHICAL 3432 02:39:19,283 --> 02:39:19,983 ISSUES IN THE SPACE. 3433 02:39:20,050 --> 02:39:21,485 BEFORE WE GET TO ONE I WANT TO 3434 02:39:21,551 --> 02:39:23,820 MAKE SURE WE TOUCH ON THIS, WHAT 3435 02:39:23,887 --> 02:39:25,689 ARE SOME ETHICAL ISSUES FRONT OF 3436 02:39:25,756 --> 02:39:27,424 MIND FOR EACH OF YOU IN THE 3437 02:39:27,491 --> 02:39:28,792 PROJECTS THAT YOU'VE BEEN 3438 02:39:28,859 --> 02:39:39,169 DISCUSSING TODAY? 3439 02:39:40,938 --> 02:39:45,142 >> MUCH OF THE PHARMACEUTICAL 3440 02:39:45,208 --> 02:39:49,179 SIDE IS DE-IDENTIFIED DATA BUT 3441 02:39:49,246 --> 02:39:52,149 IF YOU GET TO VERY ULTRA RARE 3442 02:39:52,215 --> 02:39:55,452 SPACES, THIS BECOMES A BIG 3443 02:39:55,519 --> 02:39:57,154 CONCERN BECAUSE IT'S HARD TO 3444 02:39:57,220 --> 02:40:00,057 KEEP THE DATA DEIDENTIFIED. 3445 02:40:00,123 --> 02:40:04,995 I WORK IN RARE MITOCHONDRIAL 3446 02:40:05,062 --> 02:40:07,531 DISEASE WHERE THERE'S 75 3447 02:40:07,597 --> 02:40:11,568 PATIENTS IDENTIFIED IN THE 3448 02:40:11,635 --> 02:40:22,145 U.S. AND THAT PATIENT PRIVATE 3449 02:40:25,182 --> 02:40:26,416 PROTECTION IS HARD. 3450 02:40:26,483 --> 02:40:31,521 >> THERE'S A HUGE RESPONSIBILITY 3451 02:40:31,588 --> 02:40:37,127 TO VALIDATE AND TAKE RUNNING OF 3452 02:40:37,194 --> 02:40:38,628 THE DATA AND SAY HERE'S 3453 02:40:38,695 --> 02:40:38,929 PREDICTIONS. 3454 02:40:38,996 --> 02:40:39,796 LET'S RUN WITH IT. 3455 02:40:39,863 --> 02:40:45,302 THERE'S A HUGE RESPONSIBILITY TO 3456 02:40:45,369 --> 02:40:48,739 VALIDATE AND THINK ABOUT THE 3457 02:40:48,805 --> 02:40:52,476 RESULTS. 3458 02:40:52,542 --> 02:40:56,680 >> MANISHA. 3459 02:40:56,747 --> 02:40:59,750 THE ISSUE IS CONTENT AND HOW DO 3460 02:40:59,816 --> 02:41:02,519 WE ENGAGE AND HOW DO WE EXECUTE 3461 02:41:02,586 --> 02:41:04,254 A PROJECT LIKE THIS WITH 3462 02:41:04,321 --> 02:41:06,323 INDIVIDUAL CONSENT? 3463 02:41:06,390 --> 02:41:08,258 WE NEED A BROADER MODEL AND A 3464 02:41:08,325 --> 02:41:09,659 LOVE WHAT WAS BROUGHT UP THIS 3465 02:41:09,726 --> 02:41:11,795 MORNING WHICH IS SHARING OF 3466 02:41:11,862 --> 02:41:13,864 ELECTRONIC MEDICAL RECORDS WITH 3467 02:41:13,930 --> 02:41:18,168 A PATIENT'S CONSENT WHICH SURELY 3468 02:41:18,235 --> 02:41:20,303 WOULD BE AN ENORMOUS STEP 3469 02:41:20,370 --> 02:41:21,772 FORWARD IN THIS. 3470 02:41:21,838 --> 02:41:22,439 >> THANK YOU VERY MUCH. 3471 02:41:22,506 --> 02:41:25,142 >> ONE MORE QUESTION. 3472 02:41:25,208 --> 02:41:25,842 >> JAMES PATTERSON. 3473 02:41:25,909 --> 02:41:28,412 I HAVE TWO KIDS WITH BATON'S 3474 02:41:28,478 --> 02:41:28,645 DISEASE. 3475 02:41:28,712 --> 02:41:29,679 IT'S A FAIRLY SMALL POPULATION 3476 02:41:29,746 --> 02:41:31,448 BUT WE'RE ACTIVE IN TRIALS AND 3477 02:41:31,515 --> 02:41:37,054 THINGS ONGOING AT NIH. 3478 02:41:37,120 --> 02:41:39,356 HOW DO WE SHARE THE DATA TO MAKE 3479 02:41:39,423 --> 02:41:40,257 SURE IT'S IN THE BROADER 3480 02:41:40,323 --> 02:41:42,359 COLLECTION BEING USED WITHOUT 3481 02:41:42,426 --> 02:41:45,128 HAVING TO GO THROUGH ALL THOSE 3482 02:41:45,195 --> 02:41:49,866 PROCESSES A WEEK AT A TIME EACH 3483 02:41:49,933 --> 02:41:50,067 YEAR. 3484 02:41:50,133 --> 02:41:52,702 IT'S A LOT OF DATA AND SEEMS IT 3485 02:41:52,769 --> 02:41:53,437 WOULD BE VALUABLE. 3486 02:41:53,503 --> 02:41:54,604 >> THERE'S EFFORTS GOING ON TO 3487 02:41:54,671 --> 02:41:57,140 TRY TO CONNECT THESE DIFFERENT 3488 02:41:57,207 --> 02:41:58,442 DATA ECO SYSTEMS BUT MORE STILL 3489 02:41:58,508 --> 02:41:59,076 TO BE DONE. 3490 02:41:59,142 --> 02:42:00,610 I DON'T KNOW IF THERE'S ANYONE 3491 02:42:00,677 --> 02:42:01,178 ON THE PANEL THAT WANTS TO 3492 02:42:01,244 --> 02:42:11,488 DISCUSS THAT. 3493 02:42:12,355 --> 02:42:15,025 >> I CAN SPEAK TO THE ODYSSEY 3494 02:42:15,092 --> 02:42:16,960 MODELS BEING ONE EXAMPLE TO TRY 3495 02:42:17,027 --> 02:42:21,131 TO INGEST DATA FROM DIFFERENT 3496 02:42:21,198 --> 02:42:30,841 SOURCES. 3497 02:42:30,907 --> 02:42:32,509 I'M NOT SURE THAT'S THE QUESTION 3498 02:42:32,576 --> 02:42:36,079 YOU'RE ASKING BECAUSE I'M 3499 02:42:36,146 --> 02:42:37,380 ANSWERING MORE ON THE TECHNICAL 3500 02:42:37,447 --> 02:42:37,581 SIDE. 3501 02:42:37,647 --> 02:42:39,950 YOU MAY BE ASKING WHERE CAN YOU 3502 02:42:40,016 --> 02:42:45,689 GO TO GET THE DATA SUBMITTED? 3503 02:42:45,755 --> 02:42:52,829 >> HAVING THIS PART OF THE 3504 02:42:52,896 --> 02:43:03,240 LARGER DATA MODELS. 3505 02:43:08,612 --> 02:43:10,814 INTERESTING IT CONTRIBUTE TO THE 3506 02:43:10,881 --> 02:43:13,650 LARGER DATA SETS. 3507 02:43:13,717 --> 02:43:16,319 >> YOU BRING A GREAT POINT. 3508 02:43:16,386 --> 02:43:17,921 IF IT'S AN ONGOING CLINICAL 3509 02:43:17,988 --> 02:43:19,823 TRIAL THE ABILITY TO RELEASE 3510 02:43:19,890 --> 02:43:21,658 DATA AS IT'S ONGOING BECAUSE IT 3511 02:43:21,725 --> 02:43:28,798 COULD BE VERY MEANINGFUL TO THE 3512 02:43:28,865 --> 02:43:32,135 COMMUNITY BUT IN A SAFER 3513 02:43:32,202 --> 02:43:32,435 ENVIRONMENT. 3514 02:43:32,502 --> 02:43:34,070 >> THANK YOU FOR BRINGING THAT 3515 02:43:34,137 --> 02:43:34,371 UP. 3516 02:43:34,437 --> 02:43:36,806 >> WE'RE OUT OF TIME BUT YOU 3517 02:43:36,873 --> 02:43:38,642 HAVE GREAT ENTHUSIASM. 3518 02:43:38,708 --> 02:43:39,276 PLEASE FIND US. 3519 02:43:39,342 --> 02:43:42,078 WE'RE ABOUT TO GO TO A BREAK -- 3520 02:43:42,145 --> 02:43:45,115 NO, FIND US AFTER THE BREAK. 3521 02:43:45,182 --> 02:43:55,559 THANK YOU ALL SO MUCH. 3522 02:44:24,487 --> 02:44:27,724 >> UP NEXT WE HAVE JAMES 3523 02:44:27,791 --> 02:44:28,658 HICKMAN, PROFESSOR UNIVERSITY OF 3524 02:44:28,725 --> 02:44:32,028 CENTRAL FLORIDA, CO-FOUNDER AND 3525 02:44:32,095 --> 02:44:37,133 CHIEF SCIENTIFIC OFFICER OF 3526 02:44:37,200 --> 02:44:47,377 HESPEROS. 3527 02:44:50,046 --> 02:44:54,751 >> I AN UNDIAGNOSED NEUROPATHY 3528 02:44:54,818 --> 02:44:55,418 SO I UNDERSTAND THE FRUSTRATION 3529 02:44:55,485 --> 02:44:57,687 AND THERE'S HOPE IN PROJECTS AND 3530 02:44:57,754 --> 02:44:59,189 SYSTEMS WE'RE BEING ABLE TO 3531 02:44:59,256 --> 02:45:07,030 DEVELOP. 3532 02:45:07,097 --> 02:45:09,899 MY CO-FOUNDER AND I FORMED THE 3533 02:45:09,966 --> 02:45:11,101 COMPANY EIGHT YEARS AGO AND I 3534 02:45:11,167 --> 02:45:12,969 WANT TO HIGHLIGHT THE COMPANY 3535 02:45:13,036 --> 02:45:13,937 BECAUSE EVERYTHING I'M GOING TO 3536 02:45:14,004 --> 02:45:15,005 SHOW YOU IS COMMERCIALLY 3537 02:45:15,071 --> 02:45:18,408 AVAILABLE AS PART OF A CRI. 3538 02:45:18,475 --> 02:45:20,143 THESE AREN'T JUST LANTRY THINGS 3539 02:45:20,210 --> 02:45:22,746 SAYING YOU MIGHT HAVE 3540 02:45:22,812 --> 02:45:25,482 APPLICATION IN 10 YEARS. 3541 02:45:25,548 --> 02:45:26,116 THEY'RE ALL COMMERCIALLY 3542 02:45:26,182 --> 02:45:27,117 AVAILABLE RIGHT NOW. 3543 02:45:27,183 --> 02:45:29,753 THE COMPANY WAS FOUNDED ABOUT 3544 02:45:29,819 --> 02:45:33,123 EIGHT YEARS AGO AND WE LICENSED 3545 02:45:33,189 --> 02:45:36,559 PATENTS FROM CORNELL AND GOT 3546 02:45:36,626 --> 02:45:39,596 GREAT SUPPORT FROM NIH AND 3547 02:45:39,663 --> 02:45:40,230 ESTABLISHED INTERNATIONAL AND 3548 02:45:40,297 --> 02:45:41,831 NATIONAL CONTRACTS WITH MANY 3549 02:45:41,898 --> 02:45:45,702 RARE DISEASE DEVELOPERS AND HAVE 3550 02:45:45,769 --> 02:45:51,675 A 14,000 SQUARE FOOT IN ORLANDO, 3551 02:45:51,741 --> 02:45:53,109 FLORIDA AND ARE THE FIRST 3552 02:45:53,176 --> 02:45:55,211 COMPANY TO GET A DRUG REPURPOSED 3553 02:45:55,278 --> 02:45:56,046 INTO A CLINICAL TRIAL USING ONLY 3554 02:45:56,112 --> 02:46:04,120 DATA FROM ONE OF OUR SYSTEMS. 3555 02:46:04,187 --> 02:46:05,322 I'LL GO THROUGH THAT. 3556 02:46:05,388 --> 02:46:10,660 WHEN YOU GO TO A DOCTOR'S OFFICE 3557 02:46:10,727 --> 02:46:14,564 THEY DON'T IMMEDIATELY TAKE OUT 3558 02:46:14,631 --> 02:46:15,465 FLUID. 3559 02:46:15,532 --> 02:46:17,033 THEY ASK HOW YOU'RE WALK AN 3560 02:46:17,100 --> 02:46:22,205 TALKING AND HE'S LOOKING FOR 3561 02:46:22,272 --> 02:46:31,181 CLINICALLY RELEVANT FUNCTIONAL 3562 02:46:31,247 --> 02:46:31,448 READOUTS. 3563 02:46:31,514 --> 02:46:39,689 WE CKCAN REPRODUCE THEM BY 3564 02:46:39,756 --> 02:46:50,266 BASICALLY PUTTING YOU CAN PUT 3565 02:46:58,274 --> 02:47:01,778 SKELETAL MUSCLE ACUTELY AND 3566 02:47:01,845 --> 02:47:04,848 CHRONICALLY NON-INVASIVELY 3567 02:47:04,914 --> 02:47:07,884 WITHOUT CELL DEATH AND NOT USING 3568 02:47:07,951 --> 02:47:08,685 DEATH MARKERS AND GET 3569 02:47:08,752 --> 02:47:19,095 MECHANISTIC INSIGHT. 3570 02:47:26,536 --> 02:47:29,973 WE CAN TAKE CELLS AND ON A DISK 3571 02:47:30,039 --> 02:47:31,708 AND PUT IT IN A MEDIA AND A TOP 3572 02:47:31,775 --> 02:47:36,713 ON IT AND PUT IT TOGETHER TO 3573 02:47:36,780 --> 02:47:37,313 MONITOR THE SYSTEMS UP TO A 3574 02:47:37,380 --> 02:47:40,250 MONTH. 3575 02:47:40,316 --> 02:47:42,786 AND THE WHOLE SYSTEM IS THIS, 3576 02:47:42,852 --> 02:47:44,854 THAT PLATFORM IS IN THE PALM OF 3577 02:47:44,921 --> 02:47:45,755 MY HAND. 3578 02:47:45,822 --> 02:47:47,657 THERE'S NO EXTRA TUBING. 3579 02:47:47,724 --> 02:47:51,861 THERE'S NO EXTRA PUMPS, NO HUGE 3580 02:47:51,928 --> 02:47:54,798 COMPARTMENTS TO MAKE THIS RUN. 3581 02:47:54,864 --> 02:47:56,266 WE USE GRAVITY TO PUMP IT BUT 3582 02:47:56,332 --> 02:47:57,133 THIS IS WHAT I'M HOLDING IN MY 3583 02:47:57,200 --> 02:48:07,310 HAND. 3584 02:48:12,715 --> 02:48:19,222 WE CAN TAKE MOTOR NEURONS FROM 3585 02:48:19,289 --> 02:48:25,929 ALS PATIENTS AND DIFFERENTIATE 3586 02:48:25,995 --> 02:48:31,067 THEM FROM MUSCLE AND SCHWAN'S 3587 02:48:31,134 --> 02:48:33,102 CELLS AND INNERVATE MUSCLE ON 3588 02:48:33,169 --> 02:48:34,838 THE OTHER SIDE AND DO MOTION 3589 02:48:34,904 --> 02:48:37,340 CAPTURE AND LOOK IN TERMS OF 3590 02:48:37,407 --> 02:48:39,776 STIMULATION LOOK AT MUSCLE 3591 02:48:39,843 --> 02:48:42,912 CONTRACTION AND FOR ALS YOU GET 3592 02:48:42,979 --> 02:48:44,981 SKIPPING AND WE CAN WITH 3593 02:48:45,048 --> 02:48:45,615 THERAPEUTICS SHOW WE CAN REVERSE 3594 02:48:45,682 --> 02:48:55,792 THAT. 3595 02:49:09,172 --> 02:49:12,375 YOU CAN SEE WHEN THEY LOSE GRIP 3596 02:49:12,442 --> 02:49:12,842 STRENGTH. 3597 02:49:12,909 --> 02:49:14,611 WE CAN STIMULATE THE MOTOR 3598 02:49:14,677 --> 02:49:18,715 NEURONS FASTER AND FASTER, 3599 02:49:18,781 --> 02:49:21,718 THAT'S JITTERS. 3600 02:49:21,784 --> 02:49:24,454 IF WE SEE LOSS OF TETANUS IT'S 3601 02:49:24,521 --> 02:49:27,156 LOSS OF GRIP STRENGTH. 3602 02:49:27,223 --> 02:49:28,858 YOU CAN GET MORE DETAILS FROM 3603 02:49:28,925 --> 02:49:39,402 THE POSTER AND PUBLISH THIS. 3604 02:49:46,209 --> 02:49:52,682 YOU CAN SEE THE TETANUS AND THE 3605 02:49:52,749 --> 02:49:54,717 CLINICAL TRIAL OF THE FATIGUE 3606 02:49:54,784 --> 02:50:00,023 INDEX AN IT GOES UP FOR THE 3607 02:50:00,089 --> 02:50:10,433 DIFFERENT MUTATIONS. 3608 02:50:13,069 --> 02:50:16,906 YOU DON'T SEE THE LOSS OF IF IT 3609 02:50:16,973 --> 02:50:19,409 FIDELITY BUT THIS IS THE JITTERS 3610 02:50:19,475 --> 02:50:22,879 THEY SEE IN THE CLINICAL TRIALS 3611 02:50:22,946 --> 02:50:27,350 AND PARTIAL AN TOTAL LOSS OF 3612 02:50:27,417 --> 02:50:30,687 TETANUS AND KNOW IT WAS AT THE 3613 02:50:30,753 --> 02:50:34,857 MUSCULAR JUNCTION TO GIVE US A 3614 02:50:34,924 --> 02:50:37,126 CHANCE TO TREAT THIS. 3615 02:50:37,193 --> 02:50:40,863 WE MAKE THE SCHWAN'S CELLS TAKE 3616 02:50:40,930 --> 02:50:42,632 THE MUTATIONS FROM THEM AS WELL 3617 02:50:42,699 --> 02:50:48,638 AND DID A TRIAL WITH A RARE 3618 02:50:48,705 --> 02:50:52,909 DISEASE COMPANY THEY SAID COULD 3619 02:50:52,976 --> 02:50:56,879 YOU BUILD IN THE IMMUNE SYSTEM. 3620 02:50:56,946 --> 02:51:00,717 WE PUT THE MICROGLIA ON THE 3621 02:51:00,783 --> 02:51:03,286 MOTOR NEURON SIDE AND PUT THE 3622 02:51:03,353 --> 02:51:05,588 SCHWAN'S CELLS ON THE ACTIVATED 3623 02:51:05,655 --> 02:51:07,690 MONOCYTES ON THE OTHER SIDE AND 3624 02:51:07,757 --> 02:51:09,392 LOOKED AT THE RESULTS. 3625 02:51:09,459 --> 02:51:12,061 THIS IS THE UNACTIVE BETA 3626 02:51:12,128 --> 02:51:13,963 MONOCYTES AND WHEN YOU ADD IN 3627 02:51:14,030 --> 02:51:15,798 THE COMPLIMENT PART OF THE 3628 02:51:15,865 --> 02:51:17,600 INNATE IMMUNE SYSTEM YOU SEE THE 3629 02:51:17,667 --> 02:51:26,075 DEFICIT AND THE DRUG CORRECTED 3630 02:51:26,142 --> 02:51:26,242 IT. 3631 02:51:26,309 --> 02:51:29,846 IN INFLAMMATION YOU SEE A LARGE 3632 02:51:29,912 --> 02:51:31,114 DEFICIT AND NOT MUCH CHANGE WITH 3633 02:51:31,180 --> 02:51:41,858 THE UNACTIVATED MONOCYTE S BUT 3634 02:51:44,761 --> 02:51:46,396 YOU'VE SEEN THE BIOMARKER YOU 3635 02:51:46,462 --> 02:51:50,500 CAN SEE HERE A DECREASE. 3636 02:51:50,566 --> 02:51:52,802 THE DATA WAS USED TO GET A DRUG 3637 02:51:52,869 --> 02:52:03,312 FOR AN ORPHAN DRUG STATUS. 3638 02:52:10,753 --> 02:52:17,527 YOU CAN USE THE SAME PLATFORM. 3639 02:52:17,593 --> 02:52:22,665 AS YOU KNOW ABOUT MICE MY AS YA 3640 02:52:22,732 --> 02:52:25,902 GRAPH IS AND YOU GET RECEPTORS 3641 02:52:25,968 --> 02:52:31,074 ON THE MUSCLE WHICH BLOCKS THE 3642 02:52:31,140 --> 02:52:41,884 SIGNALS FROM THE AX OONS WE SAW 3643 02:52:56,199 --> 02:52:58,801 THE DIFFERENCES BETWEEN THE 3644 02:52:58,868 --> 02:53:01,337 BLOCKING BLOCKING OR 3645 02:53:01,404 --> 02:53:04,874 INTERNALIZATION EFFECT. 3646 02:53:04,941 --> 02:53:11,948 IN THE UNTREATED WE SEE A DOWN 3647 02:53:12,014 --> 02:53:15,251 REGULATION BUT ON THE INSIDE 3648 02:53:15,318 --> 02:53:18,421 HIGH CONCENTRATIONS OF ANTIBODY 3649 02:53:18,488 --> 02:53:19,789 AND THIS WAS USED FOR A NUMBER 3650 02:53:19,856 --> 02:53:21,324 OF CLINICAL TRIALS. 3651 02:53:21,390 --> 02:53:26,496 ONE JUST GOT APPROVED FOR 3652 02:53:26,562 --> 02:53:28,331 DIANTHIS GETTING INTO A PHASE 2 3653 02:53:28,397 --> 02:53:28,698 CLINICAL TRIAL. 3654 02:53:28,765 --> 02:53:31,734 ALL THE DATA IS PUBLISHED IN 3655 02:53:31,801 --> 02:53:33,102 FRONTIERS AND CELL BIOLOGY. 3656 02:53:33,169 --> 02:53:35,104 WE'RE VALIDATING THIS BY GETTING 3657 02:53:35,171 --> 02:53:36,439 IT THROUGH CLINICAL TRIALS AND 3658 02:53:36,506 --> 02:53:40,877 VALIDATING IT BY PUBLISHING 3659 02:53:40,943 --> 02:53:49,919 EVERYTHING FROM THE COMPANY. 3660 02:53:49,986 --> 02:53:51,621 WHEN YOU HAVE RARE DISEASES YOU 3661 02:53:51,687 --> 02:53:53,422 HAVE RARE VARIANTS OF THE RARE 3662 02:53:53,489 --> 02:53:53,656 DISEASE. 3663 02:53:53,723 --> 02:53:56,759 THIS WAS A CLINICAL TRIAL 3664 02:53:56,826 --> 02:53:59,595 WORKING WITH VANDA 3665 02:53:59,662 --> 02:54:02,198 PHARMACEUTICALS TAKING A 3666 02:54:02,265 --> 02:54:05,468 FIBROBLAST FROM A CHILD WITH THE 3667 02:54:05,535 --> 02:54:07,703 DISEASE AND DIFFERENTIATE FROM 3668 02:54:07,770 --> 02:54:11,274 THE STEM CELL THE NOTER NEURONS 3669 02:54:11,340 --> 02:54:21,884 AND FROM THE MUSCULAR JUNCTION 3670 02:54:22,185 --> 02:54:22,585 PLATF 3671 02:54:22,652 --> 02:54:22,852 PLATFORMS. 3672 02:54:22,919 --> 02:54:25,788 AND WE DIDN'T SEE AS MUCH AS THE 3673 02:54:25,855 --> 02:54:27,623 JITTERS BUT THAT'S ALSO YOU 3674 02:54:27,690 --> 02:54:38,201 DON'T SEE THAT CLINICALLY FOR 3675 02:54:38,501 --> 02:54:42,972 CHACOT DISEASE AND YOU CAN SEE 3676 02:54:43,039 --> 02:54:44,674 THE TETANUS IN THE WILD TYPE 3677 02:54:44,740 --> 02:54:44,907 CHANGES. 3678 02:54:44,974 --> 02:54:46,909 WE SAW WITH THE DISEASE. 3679 02:54:46,976 --> 02:54:50,680 IF WE TRACKED IT IN TERMS OF 3680 02:54:50,746 --> 02:54:52,348 CLASSICAL TETANUS FOR THE WILD 3681 02:54:52,415 --> 02:54:55,518 TYPE YOU HAVE UNCLASSICAL 3682 02:54:55,585 --> 02:54:58,921 TETANUS AND YOU'RE GETTING 3683 02:54:58,988 --> 02:55:01,891 SPORADIC TETANUS. 3684 02:55:01,958 --> 02:55:05,728 WE SEE A SINGLE AXON GOING 3685 02:55:05,795 --> 02:55:10,466 THROUGH A SINGLE MUSCLE. 3686 02:55:10,533 --> 02:55:21,010 WHAT HAPPENS IF YOU'RE IN 3687 02:55:21,744 --> 02:55:32,188 CHARCOT DISEASE NOW KNOWS ARE 3688 02:55:40,696 --> 02:55:42,598 CLINICAL SYSTEMS FOR -- THESE 3689 02:55:42,665 --> 02:55:45,134 ARE CLINICAL SYMPTOMS FOR THIS 3690 02:55:45,201 --> 02:55:47,703 DISEASE. 3691 02:55:47,770 --> 02:55:50,973 WE TREAT WITH AN NUCLEOTIDE AND 3692 02:55:51,040 --> 02:55:54,277 IT SMOOTHED IT OUT. 3693 02:55:54,343 --> 02:55:56,512 NOW WE HAVE AN NUCLEOTIDE NOR 3694 02:55:56,579 --> 02:55:57,847 PATIENT NOW APPROVED TO GO INTO 3695 02:55:57,914 --> 02:56:05,054 A CLINICAL TRIAL. 3696 02:56:05,121 --> 02:56:08,157 WE CAN LOOK AT THE SYSTEMS. 3697 02:56:08,224 --> 02:56:11,060 THE WHOLE PROCESS FROM GETTING 3698 02:56:11,127 --> 02:56:13,496 THE PATIENT'S CELLS THROUGH TO 3699 02:56:13,562 --> 02:56:15,731 GETTING THE ASO DOSING WAS LESS 3700 02:56:15,798 --> 02:56:15,932 THAT. 3701 02:56:15,998 --> 02:56:17,233 A YEAR. 3702 02:56:17,300 --> 02:56:19,368 A FRACTION OF THE COST IT WOULD 3703 02:56:19,435 --> 02:56:21,437 TAKE FOR AN ANIMAL MODEL TO 3704 02:56:21,504 --> 02:56:26,676 DEVELOP. 3705 02:56:26,742 --> 02:56:35,484 WE'RE ALSO DEVELOPING 3706 02:56:35,551 --> 02:56:37,086 MYELINATION MODELS AND A COMPANY 3707 02:56:37,153 --> 02:56:40,790 SAW THIS AN SAID CAN YOU CREATE 3708 02:56:40,856 --> 02:56:47,296 A MODEL FOR THIS NEUROPATHY IN 3709 02:56:47,363 --> 02:56:47,496 CLDP. 3710 02:56:47,563 --> 02:56:52,802 WE SAID OKAY, YOU GET ANTIBODIES 3711 02:56:52,868 --> 02:56:54,971 THE AMPLIFICATION POINT ALONG 3712 02:56:55,037 --> 02:56:58,708 THE MYELINATION AND WE SAID WE 3713 02:56:58,774 --> 02:56:59,608 CAN DO THAT. 3714 02:56:59,675 --> 02:57:03,446 THEY'RE TRYING TO PREVENT PART 3715 02:57:03,512 --> 02:57:07,316 OF THE INNATE IMMUNE SYSTEM FROM 3716 02:57:07,383 --> 02:57:07,883 DEPOSITING. 3717 02:57:07,950 --> 02:57:10,353 WE'RE USING THE PATIENT'S SAMPLE 3718 02:57:10,419 --> 02:57:11,620 AND YOU SEE COMPLIMENT 3719 02:57:11,687 --> 02:57:15,124 DEPOSITION FROM TWO PATIENTS. 3720 02:57:15,191 --> 02:57:17,326 THE MOLECULE PREVENTED IT. 3721 02:57:17,393 --> 02:57:20,262 WE WANTED TO BUILD A MODEL TO 3722 02:57:20,329 --> 02:57:23,366 LOOK AT THE VELOCITY. 3723 02:57:23,432 --> 02:57:25,601 WHAT OUR TEAM OF ENGINEERS, 3724 02:57:25,668 --> 02:57:28,371 DR. LONG IS THE CHIEF ENGINEER 3725 02:57:28,437 --> 02:57:30,840 AND IN THE AUDIENCE, HE RETURN 3726 02:57:30,906 --> 02:57:34,810 THE MODEL 90 DEGREES AND WE HAVE 3727 02:57:34,877 --> 02:57:36,912 THE ELECTRODES GOING THROUGH THE 3728 02:57:36,979 --> 02:57:41,083 TUNNELS TO CONDUCT THE VELOCITY 3729 02:57:41,150 --> 02:57:43,019 IN THE SYSTEM. 3730 02:57:43,085 --> 02:57:46,055 WE ARE WILLING TO SEE OVER THE 3731 02:57:46,122 --> 02:57:49,759 DIFFERENT ELECTRODES AND SUM 3732 02:57:49,825 --> 02:57:51,794 THAT TOGETHER AND THIS WAS THE 3733 02:57:51,861 --> 02:57:52,461 KEY EXPERIMENT WHERE AGAIN WHAT 3734 02:57:52,528 --> 02:57:56,932 WE HAVE IS UNTREATED VELOCITY, 3735 02:57:56,999 --> 02:57:58,667 UNTREATED WITH THE SERUM CONTROL 3736 02:57:58,734 --> 02:58:04,440 AND THE MOLECULE AND YOU SEE FOR 3737 02:58:04,507 --> 02:58:07,343 THE CONTROL YOU GET NICE 3738 02:58:07,410 --> 02:58:10,913 APPLICATION BUT WITH THE 3739 02:58:10,980 --> 02:58:12,081 MOLECULE IT WAS MAINTAINED. 3740 02:58:12,148 --> 02:58:15,151 THIS WAS PUT INTO AN IND WHICH 3741 02:58:15,217 --> 02:58:15,885 ENABLED THIS CLINICAL TRIAL 3742 02:58:15,951 --> 02:58:17,620 ONGOING NOW AND THIS IS 3743 02:58:17,686 --> 02:58:19,922 PUBLISHED WITH SANOFI IN 3744 02:58:19,989 --> 02:58:21,490 ADVANCED THERAPEUTICS. 3745 02:58:21,557 --> 02:58:24,260 AGAIN ALL THE MODELS BEING DONE 3746 02:58:24,326 --> 02:58:25,961 WITHOUT CELL DEATH. 3747 02:58:26,028 --> 02:58:27,663 WE'RE NOT LOCKING AT DEATH 3748 02:58:27,730 --> 02:58:29,398 MARKERS BUT WHAT A CLINICIAN 3749 02:58:29,465 --> 02:58:30,833 WOULD WANT TO OBSERVE FROM A 3750 02:58:30,900 --> 02:58:33,135 PATIENT WHEN THEY CAME INTO 3751 02:58:33,202 --> 02:58:40,910 THEIR OFFICE. 3752 02:58:40,976 --> 02:58:47,850 WE ARE ALSO LOOKING FOR 3753 02:58:47,917 --> 02:58:50,619 LONG-TERM APPLICATION FOR 3754 02:58:50,686 --> 02:58:53,989 ALZHEIMER'S DISEASE AND ALSO 3755 02:58:54,056 --> 02:58:56,392 APPLICABLE FOR FRONTAL TEMPORAL 3756 02:58:56,459 --> 02:59:06,602 DEMENTIA AND WE -- REDUCED THE 3757 02:59:06,669 --> 02:59:10,172 ANIMAL TISSUE AND WE TOOK HUMAN 3758 02:59:10,239 --> 02:59:11,474 CORTICAL NEURONS OVER 3759 02:59:11,540 --> 02:59:13,175 ELECTRODES, PATTERN THEM TO 3760 02:59:13,242 --> 02:59:15,344 RECORD ON THE UNSTIMULATED 3761 02:59:15,411 --> 02:59:18,114 ELECTRODES OVER HERE TO BE ABLE 3762 02:59:18,180 --> 02:59:21,050 TO REPRODUCE WHAT THEY SEE WITH 3763 02:59:21,117 --> 02:59:23,986 THE ANIMAL SLICE DATA IN A HIGH 3764 02:59:24,053 --> 02:59:25,454 THROUGHPUT SYSTEM. 3765 02:59:25,521 --> 02:59:34,563 THIS WAS PUBLISHED IN SYSTEM 3766 02:59:34,630 --> 02:59:36,098 STEM CELL REPORTS AND WE BLOCKED 3767 02:59:36,165 --> 02:59:43,172 THE TWO MAIN RECEPTORS TO THE 3768 02:59:43,239 --> 02:59:46,342 SHOW THIS AND TO PROVE IT WE 3769 02:59:46,408 --> 02:59:49,044 TOOK THE SCRAMBLE WITH THE 3770 02:59:49,111 --> 02:59:51,714 PHYSIOLOGY AND A BETA 42 ONE OF 3771 02:59:51,780 --> 02:59:52,748 THE KEY THINGS FOR ALZHEIMER'S 3772 02:59:52,815 --> 02:59:55,451 AND SHOWN WE COULD REVERSE THAT 3773 02:59:55,518 --> 02:59:57,186 AND REPRODUCE THAT DATA ON THE 3774 02:59:57,253 --> 03:00:06,529 MEAs. 3775 03:00:06,595 --> 03:00:14,236 SHOWING WE CAN GET REVERSAL. 3776 03:00:14,303 --> 03:00:19,608 WE HAVE FRONTAL TEMPORAL 3777 03:00:19,675 --> 03:00:21,310 DEMENTIA THERE'S A TAOOPATHY AND 3778 03:00:21,377 --> 03:00:24,513 IT'S INVOLVED IN LOOKING AT FOR 3779 03:00:24,580 --> 03:00:25,481 OTHER RARE DISEASES IN THE 3780 03:00:25,548 --> 03:00:25,714 BRAIN. 3781 03:00:25,781 --> 03:00:28,184 YOU CAN SEE WE CAN ALSO SEE THIS 3782 03:00:28,250 --> 03:00:31,120 IN TAO BEING ABOLISHED. 3783 03:00:31,187 --> 03:00:33,322 THIS WAS PUBLISH END ALZHEIMER'S 3784 03:00:33,389 --> 03:00:35,157 AND DEMENTIA. 3785 03:00:35,224 --> 03:00:37,159 WE CAN DUE THE MUTATION AND 3786 03:00:37,226 --> 03:00:42,097 THERE'S THREE DIFFERENT 3787 03:00:42,164 --> 03:00:46,068 MUTATIONS IN AB. 3788 03:00:46,135 --> 03:00:48,637 APOE 4 AND SAW IT IN MUTATION 3789 03:00:48,704 --> 03:00:51,307 FOR TAO FOR FRONTAL TEMPORAL 3790 03:00:51,373 --> 03:00:51,574 DEMENTIA. 3791 03:00:51,640 --> 03:00:55,711 IT'S A BUSY SLIDE. 3792 03:00:55,778 --> 03:00:58,847 IT SHOWS THE WHOLE PROGRESSION. 3793 03:00:58,914 --> 03:01:00,583 IT'S ONE OF THE MORE ADVANCED 3794 03:01:00,649 --> 03:01:03,185 ORGAN SYSTEMS HERE AND WE'RE 3795 03:01:03,252 --> 03:01:05,020 LOOKING AT OPIOID OVERDOSE AND 3796 03:01:05,087 --> 03:01:12,328 RECOVERY IN TOXICITY MODELLED AN 3797 03:01:12,394 --> 03:01:16,332 CAN CREATE THE MODELS FOR MANY 3798 03:01:16,398 --> 03:01:22,605 ORGAN TYPES AND RECONFIGUREABLE. 3799 03:01:22,671 --> 03:01:24,707 OUR PHILOSOPHY IS WE CUSTOM 3800 03:01:24,773 --> 03:01:30,079 BUILD WHAT PEOPLE WANT FOR THEIR 3801 03:01:30,145 --> 03:01:35,317 DISEASE. 3802 03:01:35,384 --> 03:01:37,119 THIS IS A SLOW ACTION SYSTEM AND 3803 03:01:37,186 --> 03:01:41,423 CAN SEE THE METABOLITE IN THE 3804 03:01:41,490 --> 03:01:41,657 SYSTEM. 3805 03:01:41,724 --> 03:01:47,296 WE SAW THIS IN A PROJECT WITH 3806 03:01:47,363 --> 03:01:52,534 ASTRAZENECA AND NOT ONLY DO YOU 3807 03:01:52,601 --> 03:01:56,071 NEED A PLATFORM TO SHOW THE 3808 03:01:56,138 --> 03:01:58,173 THERAPEUTIC IS WORK AND YOU HAVE 3809 03:01:58,240 --> 03:01:59,041 TO USE ANIMALS. 3810 03:01:59,108 --> 03:02:01,143 WE'RE TRYING TO GET RID OF THAT 3811 03:02:01,210 --> 03:02:07,383 PORTION OF IT TOO. 3812 03:02:07,449 --> 03:02:12,688 WE LOOKED AT THIS THAT CALLED 3813 03:02:12,755 --> 03:02:21,096 PROM YOU WILL -- PROMULGATION 3814 03:02:21,163 --> 03:02:24,767 AND SAW THE MICROMOLAR AND WE 3815 03:02:24,833 --> 03:02:25,334 SAW EFFECT ALL WITHOUT CELL 3816 03:02:25,401 --> 03:02:31,407 DEATH. 3817 03:02:31,473 --> 03:02:33,142 WE CAN CREATE THE MODELS. 3818 03:02:33,208 --> 03:02:34,743 HOW LONG DOES THE DRUG LAST UP 3819 03:02:34,810 --> 03:02:40,215 YOUR BODY AND WHAT DOES IT DO IN 3820 03:02:40,282 --> 03:02:41,817 THE ORGANS WHERE YOU NEED TO 3821 03:02:41,884 --> 03:02:42,685 HAVE AN EFFECT. 3822 03:02:42,751 --> 03:02:45,688 WE NEED THE MODELS WE DID IN THE 3823 03:02:45,754 --> 03:02:52,628 MODELS WITH ASTRAZENECA TO LOOK 3824 03:02:52,695 --> 03:03:01,870 AT PHARMO DYNAMICS AND WE 3825 03:03:01,937 --> 03:03:06,008 REPRODUCED THAT AT THE GATE 3826 03:03:06,075 --> 03:03:08,544 FOUNDATION FOR MALARIA AND WHAT 3827 03:03:08,610 --> 03:03:09,812 WOULD BE THE DOSING IN HUMANS 3828 03:03:09,878 --> 03:03:12,414 AND THERE'S A POSTER UPSTAIRS 3829 03:03:12,481 --> 03:03:14,516 YOU CAN GET MORE DETAILS AS 3830 03:03:14,583 --> 03:03:14,717 WELL. 3831 03:03:14,783 --> 03:03:17,186 LAST I WANT TO TALK ABOUT A 3832 03:03:17,252 --> 03:03:24,593 CANCER SYSTEM. 3833 03:03:24,660 --> 03:03:28,163 WE WERE CHALLENGED BY ROCHE TO 3834 03:03:28,230 --> 03:03:31,633 TAKE THE MODEL AND A MULTIDRUG 3835 03:03:31,700 --> 03:03:33,335 MODEL AND ANOTHER VARIATION OF 3836 03:03:33,402 --> 03:03:36,505 THE PLATFORM TO RECONFIGURE THIS 3837 03:03:36,572 --> 03:03:37,773 IN MANY WAYS. 3838 03:03:37,840 --> 03:03:48,384 WE LOOKED AT TOMOXIN AND FOR THE 3839 03:03:50,085 --> 03:03:56,992 NON MULTI-DRUG CANCER WE SAW 3840 03:03:57,059 --> 03:04:01,964 DECREASES IN PROLIFERATION AND 3841 03:04:02,030 --> 03:04:06,502 WHEN WE BLOCKED THE CHANNEL 3842 03:04:06,568 --> 03:04:08,137 WHICH PUMP THE THERAPEUTIC WE 3843 03:04:08,203 --> 03:04:13,675 SAW THE DEPROLIFERATION. 3844 03:04:13,742 --> 03:04:18,647 FOR CANCER DRUG-DRUG 3845 03:04:18,714 --> 03:04:21,116 COMBINATIONS ARE THE WAY TO GO 3846 03:04:21,183 --> 03:04:25,387 AND FOR CONDUCTION VELOCITY YOU 3847 03:04:25,454 --> 03:04:33,128 GOT DECREASE FOR TAMOXFEN AND 3848 03:04:33,195 --> 03:04:34,496 REDUCTION IN RECOVER 3849 03:04:34,563 --> 03:04:35,063 I. 3850 03:04:35,130 --> 03:04:37,132 FOR THE COMBINATION YOU SAW A 3851 03:04:37,199 --> 03:04:40,702 DECREASE BUT NO RECOVERY FOR 3852 03:04:40,769 --> 03:04:42,404 FORCE AND IMPARTIAL WITH THE 3853 03:04:42,471 --> 03:04:43,038 FREQUENCY BUT AGAIN WE WEREN'T 3854 03:04:43,105 --> 03:04:51,480 KILLING THE CELLS. 3855 03:04:51,547 --> 03:04:53,949 WE CAN TAKE THE CANCER AND LOOK 3856 03:04:54,016 --> 03:05:01,156 AT NOT ONLY THE EFFICACY BUT THE 3857 03:05:01,223 --> 03:05:03,158 OFF-TARGET TOXICITY WHICH WILL 3858 03:05:03,225 --> 03:05:06,161 NEED TO BE APPROVED FOR PATIENTS 3859 03:05:06,228 --> 03:05:08,230 AND IN SCIENCE TRANSLATIONAL 3860 03:05:08,297 --> 03:05:10,599 MEDICINE IN ROCHE AND FEATURED 3861 03:05:10,666 --> 03:05:14,403 IN FRANCIS COLLINS' BLOG. 3862 03:05:14,470 --> 03:05:24,980 LAST, WE CAN CREATE AN INNATE 3863 03:05:25,614 --> 03:05:27,249 IMMUNE SYSTEM ON THE CHIP AND 3864 03:05:27,316 --> 03:05:28,517 IT'S BEEN HIGHLIGHTED IN 3865 03:05:28,584 --> 03:05:32,087 FINANCIAL TIMES AND MANY 3866 03:05:32,154 --> 03:05:32,421 PUBLICATIONS. 3867 03:05:32,488 --> 03:05:34,056 I'D LIKE TO THANK YOU ALL FOR 3868 03:05:34,122 --> 03:05:34,323 LISTENING. 3869 03:05:34,389 --> 03:05:39,661 THANK YOU FOR THE INVITATION. 3870 03:05:39,728 --> 03:05:43,298 THANK YOU ALL WHO WORKED WITH 3871 03:05:43,365 --> 03:05:43,465 ME. 3872 03:05:43,532 --> 03:05:45,167 AND EMPHASIZE ONE OF THE BIGGEST 3873 03:05:45,234 --> 03:05:47,269 PROBLEMS ONE OF THE SPEAKERS HAS 3874 03:05:47,336 --> 03:05:53,041 SAID IS WE HAVE 7,000 RARE 3875 03:05:53,108 --> 03:05:54,710 DISEASES AND WE ONLY HAVE 3876 03:05:54,776 --> 03:05:55,811 TREATMENT FOR 10%. 3877 03:05:55,878 --> 03:05:57,946 YOU CAN GET A DIAGNOSIS AND 3878 03:05:58,013 --> 03:05:59,481 HAVE A THERAPEUTIC DEVELOPER BUT 3879 03:05:59,548 --> 03:06:01,617 IF THEY DON'T HAVE A MODEL TO 3880 03:06:01,683 --> 03:06:03,785 TEST IT IN YOU CANNOT GET THE 3881 03:06:03,852 --> 03:06:05,621 DATA FOR A CLINICAL TRIAL. 3882 03:06:05,687 --> 03:06:07,222 WE CAN PROVIDE THOSE MODELS 3883 03:06:07,289 --> 03:06:10,859 THROUGH HESPROS. 3884 03:06:10,926 --> 03:06:13,028 THERE'S ALTERNATIVE PLATFORMS 3885 03:06:13,095 --> 03:06:14,796 BESIDES ANIMALS AN NOT JUST US 3886 03:06:14,863 --> 03:06:16,598 OUT BUT OTHER ANIMALS YOU NEED 3887 03:06:16,665 --> 03:06:19,067 TO LOCK AT THE NEW SYSTEMS AS AN 3888 03:06:19,134 --> 03:06:20,269 ALTERNATIVE TO USING ANIMAL 3889 03:06:20,335 --> 03:06:21,136 MODELS FOR RARE DISEASES. 3890 03:06:21,203 --> 03:06:31,380 THANK YOU. 3891 03:06:34,816 --> 03:06:35,217 QUESTIONS OR NOT? 3892 03:06:35,284 --> 03:06:45,394 OKAY. 3893 03:07:07,015 --> 03:07:07,783 >> ALL RIGHT. 3894 03:07:07,849 --> 03:07:09,351 WE WITH HAVE ONE LAST STORY 3895 03:07:09,418 --> 03:07:11,053 BEFORE WE HEAD INTO OUR LUNCH 3896 03:07:11,119 --> 03:07:11,253 BREAK. 3897 03:07:11,320 --> 03:07:19,261 I'D LIKE TO INTRODUCE DR. ANDRAY 3898 03:07:19,328 --> 03:07:22,698 BACHMAN AND CALEB BUPP FROM 3899 03:07:22,764 --> 03:07:24,166 MICHIGAN STATE STASE UNIVERSITY 3900 03:07:24,232 --> 03:07:29,071 AND THE HELEN DEVOS CHILDREN'S 3901 03:07:29,137 --> 03:07:35,811 HOSPITAL. 3902 03:07:35,877 --> 03:07:37,212 >> THANK YOU, WE KNOW WE'RE THE 3903 03:07:37,279 --> 03:07:39,114 LAST THING BETWEEN YOU AND LUNCH 3904 03:07:39,181 --> 03:07:40,916 IF YOU NEED SOMETHING TO 3905 03:07:40,983 --> 03:07:43,919 DISTRACT YOU THINK ALL THOSE 3906 03:07:43,986 --> 03:07:44,820 PEOPLE ONLINE EATING DELICIOUS 3907 03:07:44,886 --> 03:07:45,887 THINGS RIGHT NOW. 3908 03:07:45,954 --> 03:07:48,557 WE'RE EXCITED TO TELL YOU A 3909 03:07:48,624 --> 03:07:49,491 STORY OF SERENDIPITY AND SCIENCE 3910 03:07:49,558 --> 03:07:51,593 AND HOPEFULLY GIVE AN EXAMPLE OF 3911 03:07:51,660 --> 03:07:53,595 HOPE FOR THE FUTURE. 3912 03:07:53,662 --> 03:07:55,430 A COUPLE OF QUICK DISCLOSURES TO 3913 03:07:55,497 --> 03:07:57,666 LET YOU KNOW BUT SHOULDN'T 3914 03:07:57,733 --> 03:07:59,167 IMPACT WHAT WE ARE TALKING 3915 03:07:59,234 --> 03:07:59,401 ABOUT. 3916 03:07:59,468 --> 03:08:04,206 IT STARTS WITH PATIENT THAT CAME 3917 03:08:04,272 --> 03:08:10,679 INTO MY GENETICS PRACT -- 3918 03:08:10,746 --> 03:08:12,714 PRACTICE AND HAD DELIVERY AND 3919 03:08:12,781 --> 03:08:14,750 WAS A LITTLE BIT BIGGER AND 3920 03:08:14,816 --> 03:08:17,886 SHE'S MISSING SOMETHING, SHE'S 3921 03:08:17,953 --> 03:08:19,921 MISSING ALL HER HAIR. 3922 03:08:19,988 --> 03:08:21,356 EYEBROWS, EYE LASHES INCLUDED. 3923 03:08:21,423 --> 03:08:23,725 THAT'S THE MOST STRIKING THING 3924 03:08:23,792 --> 03:08:25,260 ABOUT HER NOT BECAUSE SHE DIDN'T 3925 03:08:25,327 --> 03:08:27,896 HAVE HAIR BUT DID WHEN SHE WAS 3926 03:08:27,963 --> 03:08:28,096 BORN. 3927 03:08:28,163 --> 03:08:33,635 SLE -- SHE HAD A HEAD OF 3928 03:08:33,702 --> 03:08:35,404 SILVERY HAIR THAT CAME OUT IN 3929 03:08:35,470 --> 03:08:38,206 CHUNKS AND STUCK IN MY AHEAD AS 3930 03:08:38,273 --> 03:08:41,343 SOMETHING I HADN'T SEEN BEFORE. 3931 03:08:41,410 --> 03:08:44,179 THE FAMILY WASN'T READY TO JUMP 3932 03:08:44,246 --> 03:08:47,282 INTO GENETIC TESTING AND WE DOES 3933 03:08:47,349 --> 03:08:48,884 EXOME SEQUENCING. 3934 03:08:48,950 --> 03:08:54,990 SHE'S A CARRIER OF A RECESSIVE 3935 03:08:55,057 --> 03:08:59,728 GENE CALLED ODC1 WITH NO KNOWN 3936 03:08:59,795 --> 03:09:01,096 DISEASE ASSOCIATE. 3937 03:09:01,163 --> 03:09:02,864 AS A GENETIC PHYSICIAN SOMETIMES 3938 03:09:02,931 --> 03:09:04,433 WE FIND SOMETHING WE DON'T KNOW 3939 03:09:04,499 --> 03:09:06,401 IF IT'S THE ANSWER AND THIS IS 3940 03:09:06,468 --> 03:09:09,104 THE KIND OF CASE THAT WENT BACK 3941 03:09:09,171 --> 03:09:11,173 INTO THE DRAWER. 3942 03:09:11,239 --> 03:09:13,375 I TOLD THE FAMILY WE DON'T KNOW 3943 03:09:13,442 --> 03:09:14,976 WHAT TO MAKE OF IT AND MAYBE 3944 03:09:15,043 --> 03:09:17,079 WITH TIME WE'LL UNDERSTAND 3945 03:09:17,145 --> 03:09:17,312 BETTER. 3946 03:09:17,379 --> 03:09:19,314 A FEW MONTHS LATER AFTER WE GOT 3947 03:09:19,381 --> 03:09:21,883 THE RESULTS BACK I WENT TO GRAND 3948 03:09:21,950 --> 03:09:23,285 ROUNDS AT MY CHILDREN'S HOSPITAL 3949 03:09:23,351 --> 03:09:27,322 GIVEN BY THE GENTLEMAN ON THE 3950 03:09:27,389 --> 03:09:30,058 RIGHT AN INTENSIVE CARE UNIT 3951 03:09:30,125 --> 03:09:31,760 PHYSICIAN AND WORK WITH THE 3952 03:09:31,827 --> 03:09:34,863 GENTLEMAN BEHIND ME LOOKING AT 3953 03:09:34,930 --> 03:09:37,365 ORGAN DYSFUNCTION IN PEDIATRIC 3954 03:09:37,432 --> 03:09:37,599 ILLNESS. 3955 03:09:37,666 --> 03:09:39,935 I DON'T KNOW WHY I WENT TO GRAND 3956 03:09:40,001 --> 03:09:41,937 ROUNDS THAT MORNING BUT THEY 3957 03:09:42,003 --> 03:09:43,672 TALKED ABOUT POLY AMINES. 3958 03:09:43,739 --> 03:09:45,373 THE ONLY THING I REMEMBER IS 3959 03:09:45,440 --> 03:09:47,542 THAT'S A WEIRD SOUNDING WORD. 3960 03:09:47,609 --> 03:09:48,777 I WENT TO GROUND ROUNDS AND 3961 03:09:48,844 --> 03:09:50,045 HEARD THE PRESENTATION AND 3962 03:09:50,112 --> 03:09:51,179 NOTHING CLICKED IN THE MOMENT. 3963 03:09:51,246 --> 03:09:53,048 I WENT ON AND CONTINUED TO LIVE 3964 03:09:53,115 --> 03:09:54,850 MY LIFE UNTIL A COUPLE MONTHS 3965 03:09:54,916 --> 03:09:56,885 LATER I PULLED OUT MY PATIENT'S 3966 03:09:56,952 --> 03:09:58,520 TEST RESULTS AGAIN REVIEWING 3967 03:09:58,587 --> 03:10:04,025 THEM AND I SAW THAT THAT ODC1 3968 03:10:04,092 --> 03:10:13,802 GENE WAS INVOLVED IN THE 3969 03:10:13,869 --> 03:10:15,036 POLIAMINE PATHWAY AND I SAID DO 3970 03:10:15,103 --> 03:10:17,139 YOU THINK ANDRAY WOULD BE 3971 03:10:17,205 --> 03:10:19,174 INTERESTED IN THIS AND HE 3972 03:10:19,241 --> 03:10:24,479 GRABBED HIS PHONE AND CALLED HIM 3973 03:10:24,546 --> 03:10:29,117 IMMEDIATELY BECAUSE HE WAS 3974 03:10:29,184 --> 03:10:39,661 WORKING ON IT FOR 20 YEARS. 3975 03:10:45,267 --> 03:10:49,437 >> IT'S AN ENZYME IN THE 3976 03:10:49,504 --> 03:10:52,440 POLYAMINE PATHWAY AND CONVERTS 3977 03:10:52,507 --> 03:10:54,943 TO A DIAMINE AND I KNOW THE 3978 03:10:55,010 --> 03:11:00,382 PATHWAY NOT WELL KNOWN BUT YOU 3979 03:11:00,448 --> 03:11:10,992 KNOW ABOUT THE UREA CYCLE AND A 3980 03:11:16,231 --> 03:11:20,402 WORKED IN NEUROPATHIC BLASTOMA 3981 03:11:20,468 --> 03:11:24,706 AND AS THE IMPORTANT DURING 3982 03:11:24,773 --> 03:11:27,742 ORGANOGENESIS IN THE EMBRYONIC 3983 03:11:27,809 --> 03:11:28,043 DEVELOPMENT. 3984 03:11:28,109 --> 03:11:30,712 THE GENE IS MUTATED IN THE 3985 03:11:30,779 --> 03:11:31,413 PATIENT. 3986 03:11:31,479 --> 03:11:32,581 I COULDN'T BELIEVE IT BECAUSE I 3987 03:11:32,647 --> 03:11:35,617 HAD NEVER OF A PATIENT BEFORE 3988 03:11:35,684 --> 03:11:38,720 AND THIS IS THE SEQUENCE ON THE 3989 03:11:38,787 --> 03:11:40,655 LEFT AND PROTEIN SEQUENCE AND 3990 03:11:40,722 --> 03:11:42,023 THEY HAD A MUTATION THAT TURNED 3991 03:11:42,090 --> 03:11:45,794 FROM AAA TO A TAA. 3992 03:11:45,861 --> 03:11:50,498 THAT'S A STOP CODE WHICH MEANS 3993 03:11:50,565 --> 03:11:52,534 THE LAST 40 BASE PAIRS ARE NOT 3994 03:11:52,601 --> 03:11:56,338 BEING TRANSLATED AND THE AMINO 3995 03:11:56,404 --> 03:11:58,607 ACIDS GET CUT OFF FROM THE 3996 03:11:58,673 --> 03:11:59,975 ENZYME. 3997 03:12:00,041 --> 03:12:02,310 IT'S KNOWN THIS IS THE 3998 03:12:02,377 --> 03:12:03,378 DESTABILIZATION REGION. 3999 03:12:03,445 --> 03:12:05,347 WHAT HAPPENS IN LIKE MOST 4000 03:12:05,413 --> 03:12:10,886 PROTEINS THAT GET DEGRADED IN 4001 03:12:10,952 --> 03:12:18,360 THE PROTEOZOME AND IF IT'S 4002 03:12:18,426 --> 03:12:19,361 MISSING IT DOESN'T CLEAR FROM 4003 03:12:19,427 --> 03:12:21,796 THE CELLS AND THEREFORE 4004 03:12:21,863 --> 03:12:22,197 ACCUMULATES. 4005 03:12:22,264 --> 03:12:32,807 IF IT ACCUMULATES IT HAS ENZYME 4006 03:12:35,210 --> 03:12:38,880 ATIC ACTIVITY AND LEAD TO THE 4007 03:12:38,947 --> 03:12:45,120 SIN DROVE AS IT'S CALLED NOW. 4008 03:12:45,186 --> 03:12:49,124 WE WANTED TO LOOK AT REPORT 4009 03:12:49,190 --> 03:12:53,128 CELLS AND ODC IS HIGHLY PRESENT 4010 03:12:53,194 --> 03:12:59,901 COMPARED TO CONTROL CELLS AND IN 4011 03:12:59,968 --> 03:13:05,173 THE PRIMARY FIBFIBROBLASTS AND 4012 03:13:05,240 --> 03:13:07,008 FOUND HIGHER LEVELS IN THE 4013 03:13:07,075 --> 03:13:09,744 PATIENT VERSES CONTROL CELLS. 4014 03:13:09,811 --> 03:13:12,681 THE ENZYMATIC ACTIVITY WAS 4015 03:13:12,747 --> 03:13:15,283 HIGHER IN THE FIBROBLASTS ED TO 4016 03:13:15,350 --> 03:13:17,452 THE CONTROL CELLS. 4017 03:13:17,519 --> 03:13:20,956 CLEARLY SOMETHING SEEMS TO 4018 03:13:21,022 --> 03:13:22,324 ACCUMULATE. 4019 03:13:22,390 --> 03:13:32,667 IN 1996 A FRIEND OF MINE HAD 4020 03:13:32,734 --> 03:13:37,105 DEVELOP A MOUSE THAT DELETED THE 4021 03:13:37,172 --> 03:13:42,711 SAME 20 OR SO IMMUNE ACIDS AND 4022 03:13:42,777 --> 03:13:47,148 THE SKIN OF MICE LOST THEIR HAIR 4023 03:13:47,215 --> 03:13:50,051 SIMILAR TO THE ALOPECIA 4024 03:13:50,118 --> 03:13:51,686 DR. BACHMAN SAW IN THE CLINIC. 4025 03:13:51,753 --> 03:13:54,322 THAT WAS NOT DATA GENERATED FROM 4026 03:13:54,389 --> 03:14:04,866 US AND HELPED US UNDERSTAND. 4027 03:14:05,834 --> 03:14:07,869 WE PUBLISHED AND ASKED IT'S NOT 4028 03:14:07,936 --> 03:14:13,141 A TRUE GAIN OF FUNCTION AND NOT 4029 03:14:13,208 --> 03:14:14,843 BEING CLEARED AND THEREFORE HAS 4030 03:14:14,909 --> 03:14:21,549 HIGHER ACTIVITY AND MAYBE WE CAN 4031 03:14:21,616 --> 03:14:22,784 USE A DRUG. 4032 03:14:22,851 --> 03:14:27,555 IT'S BEEN AROUND A LONG TIME AND 4033 03:14:27,622 --> 03:14:29,057 SYNTHESIZED IN IN THE 78 AND 4034 03:14:29,124 --> 03:14:31,026 SYNTHESIZED AS AN ANTICANCER 4035 03:14:31,092 --> 03:14:34,729 DRUG THEN FDA APPROVED FOR THE 4036 03:14:34,796 --> 03:14:40,035 TREATMENT OF AFRICAN SLEEPING 4037 03:14:40,101 --> 03:14:46,174 SICKNESS IN 1990 AND HAZE BEEN 4038 03:14:46,241 --> 03:14:48,977 FAIRLY SAFE AND COULD THE 4039 03:14:49,044 --> 03:14:53,948 PATIENT HAVE HIGH POLYAMINE 4040 03:14:54,015 --> 03:14:57,152 LEVELS CAN WE BRIDGE THEM DOWN 4041 03:14:57,218 --> 03:15:07,295 TO PHYSIOLOGICAL LEVELS? 4042 03:15:07,362 --> 03:15:09,464 ALSO THEY GAVE THE MICE AN AFTER 4043 03:15:09,531 --> 03:15:11,900 6 DAYS THE MICE STARTED TO GROW 4044 03:15:11,966 --> 03:15:13,134 HAIR BACK. 4045 03:15:13,201 --> 03:15:14,602 OUR HOPE WAS MAYBE THAT COULD 4046 03:15:14,669 --> 03:15:17,272 WORK FOR THE PATIENT IN THE 4047 03:15:17,338 --> 03:15:26,347 FUTURE STUDY. 4048 03:15:26,414 --> 03:15:29,951 YOU CAN SEE THE ENZYMATIC 4049 03:15:30,018 --> 03:15:32,654 ACTIVITIES WERE REDUCED AND THE 4050 03:15:32,720 --> 03:15:34,189 PRIMARY FIBROBLASTS DID NOT 4051 03:15:34,255 --> 03:15:36,458 REALLY GET KILLED BY THE DRUG. 4052 03:15:36,524 --> 03:15:47,035 THERE'S NO APOPTOSIS GOING ON. 4053 03:15:50,505 --> 03:15:52,807 >> WE HAVE AN ANIMAL MODEL 25 4054 03:15:52,874 --> 03:15:55,577 YEARS OLD AND PATIENT SAMPLE 4055 03:15:55,643 --> 03:15:57,145 FROM OUR LITTLE GIRL AND OLDER 4056 03:15:57,212 --> 03:15:57,946 DATA. 4057 03:15:58,012 --> 03:16:02,584 WE WERE ABLE TO GET THREE 4058 03:16:02,650 --> 03:16:04,786 KILOGRAMS OF WHY'D POWDER 4059 03:16:04,853 --> 03:16:06,955 SHIPPED FROM OUR PHARMACY AND 4060 03:16:07,021 --> 03:16:09,491 PUT IT INTO HER G2 AND WHEN WE 4061 03:16:09,557 --> 03:16:11,359 PUBLISHED TO WHEN SHE CAME TO 4062 03:16:11,426 --> 03:16:12,861 CLINIC WAS 15 MONTHS. 4063 03:16:12,927 --> 03:16:13,628 PRETTY DARN FAST. 4064 03:16:13,695 --> 03:16:15,864 WHEN WE START THE TREATMENT NO 4065 03:16:15,930 --> 03:16:19,901 HAIR, NO EYEBROWS, 4066 03:16:19,968 --> 03:16:22,003 DEVELOPMENTALLY DELAYED, DID NOT 4067 03:16:22,070 --> 03:16:24,139 SIT UP OR WORDS ABOUT 4 YEARS 4068 03:16:24,205 --> 03:16:24,806 OLD. 4069 03:16:24,873 --> 03:16:26,341 A MONTH LATER I GOT THE MESSAGE 4070 03:16:26,407 --> 03:16:28,243 FROM THE FAMILY AND DON'T TELL 4071 03:16:28,309 --> 03:16:30,578 MY BOSSES BUT I DIDN'T WORK THE 4072 03:16:30,645 --> 03:16:32,881 REST OF THE DAY BECAUSE SHE 4073 03:16:32,947 --> 03:16:35,350 SPROUTED EYEBROWS AND EYE LASHES 4074 03:16:35,416 --> 03:16:37,218 AND WHAT WE THOUGHT MIGHT HAPPEN 4075 03:16:37,285 --> 03:16:41,189 STARTED TO SHOW ITSELF AND A 4076 03:16:41,256 --> 03:16:48,463 WEEK LATER MORE. 4077 03:16:48,530 --> 03:16:51,566 YOU SEE MORE HAIR AND THE IS 4078 03:16:51,633 --> 03:16:55,203 GIVING HER PUSHES TO SHOW THE 4079 03:16:55,270 --> 03:16:57,605 MUSCLE TONE SHE DEVELOPED AND AS 4080 03:16:57,672 --> 03:17:04,212 TIME GOES ON A FULL HEAD OF HAIR 4081 03:17:04,279 --> 03:17:06,214 AND SEE MUSCLE TONE DEVELOPING 4082 03:17:06,281 --> 03:17:07,782 AND IN MICHIGAN IT'S IMPORTANT 4083 03:17:07,849 --> 03:17:09,584 TO GO OUT AND PLAY IN THE SNOW. 4084 03:17:09,651 --> 03:17:12,587 HER FAMILY NEVER HAD TO BUY HER 4085 03:17:12,654 --> 03:17:14,822 SNOW CLOTHES BEFORE BECAUSE SHE 4086 03:17:14,889 --> 03:17:16,724 WOULDN'T GO OUT AND THIS IS THE 4087 03:17:16,791 --> 03:17:19,294 BEST PART OF THE VIDEO POPPING 4088 03:17:19,360 --> 03:17:19,460 UP. 4089 03:17:19,527 --> 03:17:21,029 LOOK AT THE CORE STRENGTH. 4090 03:17:21,095 --> 03:17:22,463 THIS IS A SINGLE ON A TREATMENT. 4091 03:17:22,530 --> 03:17:23,765 THIS IS GOOD STUFF. 4092 03:17:23,831 --> 03:17:26,434 AS TIME GOES ON SHE BEGINS TO BE 4093 03:17:26,501 --> 03:17:28,836 MORE MOBILE, ABLE TO FOLLOW 4094 03:17:28,903 --> 03:17:31,706 MULTIPLE STEP INSTRUCTIONS AND 4095 03:17:31,773 --> 03:17:33,141 USE SOME SIGN LANGUAGE AND 4096 03:17:33,208 --> 03:17:34,509 EVENTUALLY GET TO WHEELCHAIR AND 4097 03:17:34,576 --> 03:17:38,947 IS AN ABSOLUTE MENACE ON THE 4098 03:17:39,013 --> 03:17:39,948 WHEELCHAIR MOVING AROUND VERY 4099 03:17:40,014 --> 03:17:40,181 WELL. 4100 03:17:40,248 --> 03:17:42,217 WE TRIED TO DO THE SCIENCE OF 4101 03:17:42,283 --> 03:17:42,383 IT. 4102 03:17:42,450 --> 03:17:46,654 WE WERE WORKING OFF 4103 03:17:46,721 --> 03:17:48,790 COMPASSIONATE USE IND AND TRIED 4104 03:17:48,856 --> 03:17:51,459 TO GATHER DATA BUT IT'S HARD 4105 03:17:51,526 --> 03:17:54,562 WHEN YOU DO COMPASSIONATE 4106 03:17:54,629 --> 03:17:56,531 TREATMENTS IT'S NOT ABOUT THE 4107 03:17:56,598 --> 03:17:58,399 SCIENCE BUT KIND OF IS. 4108 03:17:58,466 --> 03:18:01,569 WE HAD AN MRI AND GOT ANOTHER 4109 03:18:01,636 --> 03:18:04,639 ONE AND HER BRAIN IMPROVED. 4110 03:18:04,706 --> 03:18:08,243 WE GATHERED GLOBAL METABOLOMIC 4111 03:18:08,309 --> 03:18:09,644 PROFILING AND GOT THE FIRST 4112 03:18:09,711 --> 03:18:11,512 SAMPLE A DAY AFTER THE 4113 03:18:11,579 --> 03:18:13,047 MEDICATION AND ALMOST EVERYTHING 4114 03:18:13,114 --> 03:18:15,149 NORMALIZED WITHIN A DAY WHICH IS 4115 03:18:15,216 --> 03:18:18,720 UNBELIEVABLE FROM A METABOLOMIC 4116 03:18:18,786 --> 03:18:22,323 PROFILE NOTHING GOT ABNORMAL. 4117 03:18:22,390 --> 03:18:23,224 THAT'S OUR FIRST PATIENT. 4118 03:18:23,291 --> 03:18:25,159 THE SECOND PATIENT YOU SEE A 4119 03:18:25,226 --> 03:18:26,160 UNIQUE HAIR PATTERN. 4120 03:18:26,227 --> 03:18:27,195 HE'S NOT IN MICHIGAN. 4121 03:18:27,262 --> 03:18:29,163 WE TRIED TO WORK WITH A LOCAL 4122 03:18:29,230 --> 03:18:30,732 MEDICAL TEAM AND TRY TO FIND A 4123 03:18:30,798 --> 03:18:32,100 WAY TO DO IT THAT WAY. 4124 03:18:32,166 --> 03:18:34,135 IT WAS IMPOSSIBLE TO DO. 4125 03:18:34,202 --> 03:18:36,204 THIS FAMILY ELECTED TO COME FROM 4126 03:18:36,271 --> 03:18:37,538 CALIFORNIA TO MICHIGAN TO BECOME 4127 03:18:37,605 --> 03:18:39,941 A PATIENT OF OURS TO TRY 4128 03:18:40,008 --> 03:18:41,743 TREATMENT FOR HIM AND ALSO THROW 4129 03:18:41,809 --> 03:18:43,878 OUT BECAUSE I'M IN THE RIGHT 4130 03:18:43,945 --> 03:18:45,446 AUDIENCE DIAGNOSED THROUGH THE 4131 03:18:45,513 --> 03:18:46,381 UDN SO THANK YOU. 4132 03:18:46,447 --> 03:18:48,583 WE EXPRESSED THE TIME LINE PORE 4133 03:18:48,650 --> 03:18:51,152 FROM 15 MONTHS TO 13 MONTHS FROM 4134 03:18:51,219 --> 03:18:53,988 WHEN HE GOT HIS DIAGNOSIS AT UDN 4135 03:18:54,055 --> 03:18:56,291 TO WHEN HE CAME AN GOT THE 4136 03:18:56,357 --> 03:18:56,758 TREATMENT. 4137 03:18:56,824 --> 03:18:58,326 YOU SEE MORE MUSCLE TONE AND 4138 03:18:58,393 --> 03:19:06,234 SOME VARIATION BUT NO HAIR, EYE 4139 03:19:06,301 --> 03:19:06,634 GLA 4140 03:19:06,701 --> 03:19:08,803 LASHES AND STARTS TO SIT UP AND 4141 03:19:08,870 --> 03:19:11,205 SPROUTS HAIR AND MORE ENGAGED 4142 03:19:11,272 --> 03:19:12,407 WITH HIS SURROUNDING. 4143 03:19:12,473 --> 03:19:14,575 HE HAD NOT BEEN ABLE TO SIT DOWN 4144 03:19:14,642 --> 03:19:17,211 AND WATCH TV AND NOW HE LIKES 4145 03:19:17,278 --> 03:19:18,012 MICKY MOUSE. 4146 03:19:18,079 --> 03:19:21,249 FROM A FAMILY PERSPECTIVE THINK 4147 03:19:21,316 --> 03:19:24,419 OF WHAT A HUGE DIFFERENCE THIS 4148 03:19:24,485 --> 03:19:25,453 MAKES. 4149 03:19:25,520 --> 03:19:28,423 WITH AN ASSISTIVE DEVICE HE'S 4150 03:19:28,489 --> 03:19:31,125 ABLE TO AMBULATE AND HE'S HAVING 4151 03:19:31,192 --> 03:19:31,826 THE BEST TIME. 4152 03:19:31,893 --> 03:19:33,594 THE TWO FAMILIES FOUND EACH 4153 03:19:33,661 --> 03:19:36,998 OTHER AND CONNECT AND WEARING 4154 03:19:37,065 --> 03:19:40,702 THEIR BACHMANN BUDDY BIBS AND 4155 03:19:40,768 --> 03:19:42,937 THE FAMILY SENT US A PICTURE AND 4156 03:19:43,004 --> 03:19:44,772 SAID IT'S THE FIRST TIME THEY'VE 4157 03:19:44,839 --> 03:19:47,208 DONE A PICTURE WITH EVERYBODY 4158 03:19:47,275 --> 03:19:47,575 STANDING. 4159 03:19:47,642 --> 03:19:49,877 AND FROM A LIFE STANDPOINT WHAT 4160 03:19:49,944 --> 03:19:52,013 A DIFFERENCE THAT MAKES. 4161 03:19:52,080 --> 03:19:53,481 HERE COMES PATIENT NUMBER THREE. 4162 03:19:53,548 --> 03:19:56,150 AN EMAIL FROM A GROUP IN ISRAEL 4163 03:19:56,217 --> 03:20:01,723 THAT SAYS WE HAVE A PATIENT 4164 03:20:01,789 --> 03:20:06,561 DIAGNOSED AT 2 YEAWEEKS OLD AND 4165 03:20:06,627 --> 03:20:08,429 TRIED TO DO THE MEDICATION AND 4166 03:20:08,496 --> 03:20:11,132 COULD NOT SORT IT OUT AND GOT 4167 03:20:11,199 --> 03:20:13,968 APPROVAL TO FLY TO MICHIGAN. 4168 03:20:14,035 --> 03:20:16,337 THIS PATIENT'S FATHER BORN IN 4169 03:20:16,404 --> 03:20:16,704 MICHIGAN. 4170 03:20:16,771 --> 03:20:20,675 THEY HAD FAMILY AND WERE ABLE TO 4171 03:20:20,742 --> 03:20:22,176 COME HERE AND DIRECT HOSPITAL TO 4172 03:20:22,243 --> 03:20:24,912 HOSPITAL TRANSFER AND THIS IS 4173 03:20:24,979 --> 03:20:27,849 WHAT SHOWED UP ON OUR DOOR. 4174 03:20:27,915 --> 03:20:30,918 A UNIQUE HAIR PATTERN AND 4175 03:20:30,985 --> 03:20:34,322 FEEDING TUBE AND BREATHING TUBE 4176 03:20:34,389 --> 03:20:36,090 AND WENT FROM DIAGNOSIS TO 4177 03:20:36,157 --> 03:20:38,726 TREATMENT AT NINE WEEKS AND 4178 03:20:38,793 --> 03:20:40,928 STARTED TREATMENT AT 11 WEEKS. 4179 03:20:40,995 --> 03:20:42,797 YOU FIND SOMEBODY EARLY AND 4180 03:20:42,864 --> 03:20:44,932 START TREATMENT AND A MONTH INTO 4181 03:20:44,999 --> 03:20:46,667 TREATMENT YOU SEE ALL THIS HAIR 4182 03:20:46,734 --> 03:20:49,337 AND THE FEEDING TUBE IS GONE. 4183 03:20:49,404 --> 03:20:51,506 TWO MONTHS INTO TREATMENT THE 4184 03:20:51,572 --> 03:20:53,107 NASAL CANNULA IS GONE. 4185 03:20:53,174 --> 03:20:54,909 THREE MONTHS INTO TREATMENT, I 4186 03:20:54,976 --> 03:20:55,743 DON'T KNOW HOW MANY THREE MONTHS 4187 03:20:55,810 --> 03:20:57,645 OLD YOU SEE BUT THIS IS WHAT 4188 03:20:57,712 --> 03:20:59,914 MOST DO, THEY DABBLE AND WAVE 4189 03:20:59,981 --> 03:21:01,449 AND THINGS LIKE THAT. 4190 03:21:01,516 --> 03:21:04,919 A LITTLE BIT OLDER GIVEN A 4191 03:21:04,986 --> 03:21:10,458 CUCUMBER AND HAS A NATURAL 4192 03:21:10,525 --> 03:21:12,326 REACTION AND FAST TRACK TO 16 4193 03:21:12,393 --> 03:21:14,395 MONTHS OF AGE. 4194 03:21:14,462 --> 03:21:16,697 SHE STILL HAS LOWER MUSCLE TONE 4195 03:21:16,764 --> 03:21:17,999 AND DEVELOPMENT DELAY WITH 4196 03:21:18,065 --> 03:21:19,700 SPEECH BUT FAR AND BEYOND WHAT 4197 03:21:19,767 --> 03:21:21,068 WE'VE SEEN WITH OTHER PATIENTS 4198 03:21:21,135 --> 03:21:23,237 AND GIVING HERSELF A HAND AS SHE 4199 03:21:23,304 --> 03:21:27,442 GETS THERE. 4200 03:21:27,508 --> 03:21:29,043 THIS TAKES YOU BACK TO THE 4201 03:21:29,110 --> 03:21:30,845 ORIGINAL FIRST PATIENT TO GIVE A 4202 03:21:30,912 --> 03:21:34,482 SENSE HOW FAR SHE'S COME. 4203 03:21:34,549 --> 03:21:35,983 SHE'S WEARING A LOT OF BRACING 4204 03:21:36,050 --> 03:21:38,519 ON HER LEG AND SHE'LL HAVE A BIG 4205 03:21:38,586 --> 03:21:41,689 SMILE AND YOU'LL SEE HER MOM HAS 4206 03:21:41,756 --> 03:21:43,491 A BIG SMILE. 4207 03:21:43,558 --> 03:21:45,126 THIS IS WHAT IS POSSIBLE WITH 4208 03:21:45,193 --> 03:21:47,228 FINDING THINGS AND APPLYING 4209 03:21:47,295 --> 03:21:48,229 TREATMENTS TO IT. 4210 03:21:48,296 --> 03:21:53,067 THINGS WE'RE TRYING TO SORT OUT 4211 03:21:53,134 --> 03:21:53,935 A LITTLE BIT MORE NOW IS WE 4212 03:21:54,001 --> 03:21:55,736 FOUND A DISEASE AND DID A 4213 03:21:55,803 --> 03:21:57,104 TREATMENT AND HAVE A GAP TRYING 4214 03:21:57,171 --> 03:21:59,006 TO UNDERSTAND WHY IT WORKS. 4215 03:21:59,073 --> 03:22:01,108 IT'S A NOT A BAD PROBLEM TO HAVE 4216 03:22:01,175 --> 03:22:02,176 BUT REAL. 4217 03:22:02,243 --> 03:22:03,644 THIS IS ALSO ULTRA RARE. 4218 03:22:03,711 --> 03:22:05,880 16 PATIENTS IN THE WORLD HAVE 4219 03:22:05,947 --> 03:22:07,482 THIS, FIVE IN THE UNITED STATES. 4220 03:22:07,548 --> 03:22:11,285 HOW DO WE MOVE THIS TOWARDS A 4221 03:22:11,352 --> 03:22:12,987 CLINICAL TRIAL FOR A DOUBLE 4222 03:22:13,054 --> 03:22:15,456 BLIND PLACEBO IT'S NOT POSSIBLE 4223 03:22:15,523 --> 03:22:17,124 AND WE HAVE THREE PATIENTS ON IT 4224 03:22:17,191 --> 03:22:19,126 AND I DON'T THINK I'D WANT TO 4225 03:22:19,193 --> 03:22:21,963 TAKE THEM OFF AND THE POLYAMINE 4226 03:22:22,029 --> 03:22:23,097 PATHWAY. 4227 03:22:23,164 --> 03:22:24,232 THERE'S BEEN THREE OTHER SYSTEMS 4228 03:22:24,298 --> 03:22:26,067 SINCE DESCRIBING THE PATHWAY AND 4229 03:22:26,133 --> 03:22:27,902 PROBABLY ANOTHER 15. 4230 03:22:27,969 --> 03:22:30,304 FROM A TREATMENT STANDPOINT WHAT 4231 03:22:30,371 --> 03:22:32,139 COULD BE POSSIBLE IT'S QUITE 4232 03:22:32,206 --> 03:22:32,874 EXCITING. 4233 03:22:32,940 --> 03:22:34,675 WE'VE DONE WORK TO PUT TOGETHER 4234 03:22:34,742 --> 03:22:36,444 A CENTER TO WORK ON THIS. 4235 03:22:36,511 --> 03:22:38,379 THAT'S WHERE WE'LL LAND AND 4236 03:22:38,446 --> 03:22:41,115 THANK THE WONDERFUL PEOPLE THAT 4237 03:22:41,182 --> 03:22:42,550 HAVE HELPED US. 4238 03:22:42,617 --> 03:22:45,887 A LOT OF THEM OUT OF THE 4239 03:22:45,953 --> 03:22:49,390 GOODNESS OF THEIR HEART AND HOW 4240 03:22:49,457 --> 03:22:52,226 ABOUT AN RO1 FOR AN ULTRA RARE 4241 03:22:52,293 --> 03:22:52,493 DISORDER. 4242 03:22:52,560 --> 03:22:55,096 THAT'S THE WORK WE WANT TO DO 4243 03:22:55,162 --> 03:22:56,197 AND CERTAINLY LAST BUT NOT LEAST 4244 03:22:56,264 --> 03:22:58,332 OUR PATIENTS AND FAMILIES WHO 4245 03:22:58,399 --> 03:23:00,034 HAVE BEEN THE BRAVEST FOLKS TO 4246 03:23:00,101 --> 03:23:02,737 SIT WITH US AND SAY, YEAH, I'LL 4247 03:23:02,803 --> 03:23:07,542 GIVE THAT A TRY. 4248 03:23:07,608 --> 03:23:08,075 THANK YOU ALL SO MUCH. 4249 03:23:25,059 --> 03:23:26,494 >> EXCELLENT TALK. 4250 03:23:26,561 --> 03:23:30,031 I JUST WANT TO THANK YOU FOR THE 4251 03:23:30,097 --> 03:23:33,935 ACKNOWLEDGEMENT OF THE UDN, UDP 4252 03:23:34,001 --> 03:23:35,469 IN THIS CASE. 4253 03:23:35,536 --> 03:23:37,738 DR. GOLE IS MY BOSS AND MAY NOT 4254 03:23:37,805 --> 03:23:40,274 BE HERE BUT WOULD BE HAPPY YOU 4255 03:23:40,341 --> 03:23:42,443 MENTIONED THAT AND LACY IS HERE 4256 03:23:42,510 --> 03:23:43,878 WHO WORKED WITH THIS DISEASE AND 4257 03:23:43,945 --> 03:23:45,713 MY BOSS IS ALSO THE DIRECTOR OF 4258 03:23:45,780 --> 03:23:45,913 THAT. 4259 03:23:45,980 --> 03:23:47,982 THAT'S GREAT. 4260 03:23:48,049 --> 03:23:52,453 I JUST WANT TO SAY IT WOULD HAVE 4261 03:23:52,520 --> 03:23:54,255 BEEN GREAT IF I HAD A CHANCE TO 4262 03:23:54,322 --> 03:23:55,957 TALK TO THE DIRECTOR OF THE NIH 4263 03:23:56,023 --> 03:24:01,462 TO HAVE A WORD AND SAY WE NEED 4264 03:24:01,529 --> 03:24:05,032 MONEY TO CONTINUE WORKING 4265 03:24:05,099 --> 03:24:07,868 BECAUSE THIS WORK WAS SUCCEEDED 4266 03:24:07,935 --> 03:24:14,308 BY THE SMALL WORK OF THE UDN, 4267 03:24:14,375 --> 03:24:14,508 UDPN. 4268 03:24:14,575 --> 03:24:17,111 I JUST WANT TO SAY THAT. 4269 03:24:17,178 --> 03:24:27,355 THANK YOU. 4270 03:24:31,525 --> 03:24:41,636 [APPLAUSE] 4271 03:24:42,169 --> 03:24:43,170 >> OKAY. 4272 03:24:43,237 --> 03:24:45,006 SO JUST A FEW REMINDER BEFORE WE 4273 03:24:45,072 --> 03:24:47,108 BREAK TO LUNCH, AS NOTED THIS 4274 03:24:47,174 --> 03:24:49,744 MORNING THE CAFETERIA IN NATCHER 4275 03:24:49,810 --> 03:24:52,680 IS OPEN IN THE UPPER LEVEL UNTIL 4276 03:24:52,747 --> 03:24:53,180 2:00 P.M. 4277 03:24:53,247 --> 03:24:56,550 IF YOU PREORDERED THEY'LL BE AT 4278 03:24:56,617 --> 03:25:01,122 THE CHECK-IN DESKS AN VISIT THE 4279 03:25:01,188 --> 03:25:03,791 ACTIVITIES IN THE OUTSIDE OF THE 4280 03:25:03,858 --> 03:25:07,261 AUDITORIUM. 4281 03:25:07,328 --> 03:25:08,262 ALL RIGHT, WELCOME BACK 4282 03:25:08,329 --> 03:25:08,629 EVERYBODY. 4283 03:25:08,696 --> 03:25:12,233 HOPE YOU HAD A GREAT LUNCH BREAK 4284 03:25:12,299 --> 03:25:14,268 AND WERE ABLE TO VISIT OUR 4285 03:25:14,335 --> 03:25:15,736 EXHIBITS AND ART EXHIBITIONS. 4286 03:25:15,803 --> 03:25:17,004 WE'RE GOING GO AHEAD AND GET 4287 03:25:17,071 --> 03:25:19,507 STARTED WITH OUR RARE STORY. 4288 03:25:19,573 --> 03:25:24,445 SO I'D LIKE TO INVITE ASHLEY 4289 03:25:24,512 --> 03:25:31,485 EAKIN TO THE STAGE AN ADVOCATE, 4290 03:25:31,552 --> 03:25:41,996 FILM DIRECTOR AND WRITER. 4291 03:25:56,210 --> 03:25:57,044 >> ALL RIGHT. 4292 03:25:57,111 --> 03:25:58,612 HELLO, EVERYONE. 4293 03:25:58,679 --> 03:26:00,047 THANK YOU FOR BEING HERE TODAY 4294 03:26:00,114 --> 03:26:03,317 AND THANK YOU TO THE NIN FOR 4295 03:26:03,384 --> 03:26:04,652 INVITING ME TO PEOPLE. 4296 03:26:04,719 --> 03:26:10,725 I'M ASHLEY EAKIN I WAS BORN WITH 4297 03:26:10,791 --> 03:26:13,961 A RARE DISEASE OF ASHKASHI 4298 03:26:14,028 --> 03:26:15,129 SYNDROME AND INCLUDES VARIOUS 4299 03:26:15,196 --> 03:26:17,832 MUTATION CREATES TUMORS, MOSTLY 4300 03:26:17,898 --> 03:26:21,669 BENIGN AND SOME CANCER ROUSE. 4301 03:26:21,736 --> 03:26:24,638 I'VE HAD OVER 28 SURGERIES AND 4302 03:26:24,705 --> 03:26:26,774 SURVIVED OVARIAN CANCER TWICE. 4303 03:26:26,841 --> 03:26:29,376 BUT FOR MOST MY LIFE I WAS 4304 03:26:29,443 --> 03:26:30,878 ASHAMED OF BEING SO DIFFERENT. 4305 03:26:30,945 --> 03:26:34,248 FOR THE MOST PART I HAD A GREAT 4306 03:26:34,315 --> 03:26:36,183 MIDWEST CHILDHOOD BUT BECAUSE MY 4307 03:26:36,250 --> 03:26:38,586 PARENTS WANTED TO PROTECT ME 4308 03:26:38,652 --> 03:26:40,921 FROM THE STIGMA OF DISABILITY I 4309 03:26:40,988 --> 03:26:42,690 WAS RAISED ON THE IDEA YOU'RE 4310 03:26:42,757 --> 03:26:44,625 NOT DISABLED YOU'RE GOOD. 4311 03:26:44,692 --> 03:26:47,495 IT MADE ME FEEL HAVING A 4312 03:26:47,561 --> 03:26:55,369 DISABILITY WAS BAD. 4313 03:26:55,436 --> 03:26:56,537 THE STARES AND COMMENTS STARTED 4314 03:26:56,604 --> 03:26:58,239 TO AFFECT ME AND A STARTED TO 4315 03:26:58,305 --> 03:27:00,207 HIDE MY BODY AND IN SUMMER 4316 03:27:00,274 --> 03:27:02,176 AVOIDING ANY AND ALL DISCUSSION 4317 03:27:02,243 --> 03:27:02,343 IT. 4318 03:27:02,409 --> 03:27:03,744 OF COURSE WHEN HAVE YOU A 4319 03:27:03,811 --> 03:27:07,481 DISEASE THAT AFFECTS YOUR WHOLE 4320 03:27:07,548 --> 03:27:11,418 BODY IT CAN START TO TO FEEL 4321 03:27:11,485 --> 03:27:13,420 LIKE YOU'RE LIVING A DOUBLE LIFE 4322 03:27:13,487 --> 03:27:15,289 AND BEFORE I GET THAT I'M GOING 4323 03:27:15,356 --> 03:27:17,324 TO REWIND A LITTLE BIT. 4324 03:27:17,391 --> 03:27:20,094 GROWING UP I ALWAYS LOVED STORY 4325 03:27:20,161 --> 03:27:20,327 TELLING. 4326 03:27:20,394 --> 03:27:24,265 I WAS THE ONE ALWAYS HOLDING THE 4327 03:27:24,331 --> 03:27:28,536 CAMERA AND MAKE VIDEOS AND I 4328 03:27:28,602 --> 03:27:30,437 NEVER THOUGHT A CAREER IN 4329 03:27:30,504 --> 03:27:31,906 HOLLYWOOD WAS FOR ME AND I GREW 4330 03:27:31,972 --> 03:27:36,911 UP IN NEBRASKA SO IT FELT FAR 4331 03:27:36,977 --> 03:27:39,747 AWAY AND NOT ONLY WERE WOMEN 4332 03:27:39,814 --> 03:27:44,351 DIRECTORS RARE BUT NEVER SEEING 4333 03:27:44,418 --> 03:27:46,854 SOMEONE DISABLED MADE IT SEEM 4334 03:27:46,921 --> 03:27:47,154 IMPOSSIBLE. 4335 03:27:47,221 --> 03:27:50,057 I DECIDED TO GO INTO JOURNALISM 4336 03:27:50,124 --> 03:27:51,425 BECAUSE I WAS ALWAYS GOOD AT 4337 03:27:51,492 --> 03:27:53,928 WRITING AND I HAD DESIRES TO 4338 03:27:53,994 --> 03:27:56,964 TELL STORIES IN VISUAL MEDIUM 4339 03:27:57,031 --> 03:27:58,799 AND EXPLORE THE FILM INDUSTRY. 4340 03:27:58,866 --> 03:28:04,705 I TOOK A CLASS ON FILM AND A 4341 03:28:04,772 --> 03:28:10,010 GUEST SPEAKER CAME IN AND HE HAD 4342 03:28:10,077 --> 03:28:13,013 A PARALYZED ARM THAT WAS VISIBLE 4343 03:28:13,080 --> 03:28:14,415 AND THE FIRST TIME I SAW SOMEONE 4344 03:28:14,481 --> 03:28:16,050 WITH A DIFFERENT BODY IN OUR 4345 03:28:16,116 --> 03:28:17,184 INDUSTRY AND SPARK THE IDEA 4346 03:28:17,251 --> 03:28:22,656 MAYBE I COULD BELONG IN THIS 4347 03:28:22,723 --> 03:28:22,857 WORLD. 4348 03:28:22,923 --> 03:28:33,434 I DOVE IN HEAD FIRST I GOT AN 4349 03:28:44,178 --> 03:28:45,713 INTERNSHIP AND A DID INTERN, 4350 03:28:45,779 --> 03:28:47,948 PRODUCTION ASSISTANT AND LANDED 4351 03:28:48,015 --> 03:28:50,050 AN EXECUTIVE ASSISTANT JOB FOR 4352 03:28:50,117 --> 03:28:51,986 THE PRODUCER WHO CREATED 4353 03:28:52,052 --> 03:28:55,089 AMERICA'S NEXT TOP MODEL WITH TY 4354 03:28:55,155 --> 03:28:55,956 RA BANKS. 4355 03:28:56,023 --> 03:28:59,393 IT INCREDIBLE WHERE I GOT TRAVEL 4356 03:28:59,460 --> 03:29:02,162 TO HONG KONG, BALI, JAMAICA. 4357 03:29:02,229 --> 03:29:05,900 I REALIZED I DIDN'T WANT TO WORK 4358 03:29:05,966 --> 03:29:09,603 IN REALITY TV AND BECAME A 4359 03:29:09,670 --> 03:29:13,073 WRITER'S OFFICE ASSISTANT FOR 4360 03:29:13,140 --> 03:29:16,877 THE NIGHT SHIFT AND THEY WENT ON 4361 03:29:16,944 --> 03:29:18,145 HIATUS WHILE THEY WAITED TO SEE 4362 03:29:18,212 --> 03:29:20,648 IF PEOPLE WOULD WATCH AND I 4363 03:29:20,714 --> 03:29:25,252 NEEDED A NEW JOB AND I GOT A JOB 4364 03:29:25,319 --> 03:29:27,187 AT AGENT X ON TNT. 4365 03:29:27,254 --> 03:29:31,892 BY THIS TIME I WAS SIX YEARS OF 4366 03:29:31,959 --> 03:29:33,627 SINKING MY TEETH IN THE 4367 03:29:33,694 --> 03:29:34,161 BUSINESS. 4368 03:29:34,228 --> 03:29:35,062 I UNDERSTAND THE WORLD BUT 4369 03:29:35,129 --> 03:29:36,230 WASN'T SURE I JUST WANTED TO BE 4370 03:29:36,297 --> 03:29:37,298 A WRITER ANYMORE. 4371 03:29:37,364 --> 03:29:42,336 MY PASSIONS WERE EXPANDING INTO 4372 03:29:42,403 --> 03:29:44,204 DIRECTING MOST THE DIRECTORS 4373 03:29:44,271 --> 03:29:45,773 WERE BIG TALL MEN AND WASN'T 4374 03:29:45,839 --> 03:29:48,108 SURE IT WAS SOMETHING I COULD 4375 03:29:48,175 --> 03:29:48,375 DO. 4376 03:29:48,442 --> 03:29:51,045 I SPOKE TO SOME FRIENDS AND THEY 4377 03:29:51,111 --> 03:29:52,980 TOLD ME TO TRY IT OUT AND I 4378 03:29:53,047 --> 03:29:56,083 SAVED UP $700 AND DIRECTED MY 4379 03:29:56,150 --> 03:29:57,284 SHORT FILM AND LOVED THE 4380 03:29:57,351 --> 03:29:57,818 PROCESS. 4381 03:29:57,885 --> 03:30:02,623 YES, THIS SOMETHING I WANT TO 4382 03:30:02,690 --> 03:30:02,790 DO. 4383 03:30:02,856 --> 03:30:04,224 I'D NEVER WORKED FOR A DIRECTOR 4384 03:30:04,291 --> 03:30:06,026 SO WASN'T SURE HOW THEY GET 4385 03:30:06,093 --> 03:30:08,395 HIRED TO DIRECT MOVIES AND TV 4386 03:30:08,462 --> 03:30:08,595 SHOWS. 4387 03:30:08,662 --> 03:30:10,931 I WENT ON A JOURNEY TO FIND A 4388 03:30:10,998 --> 03:30:12,733 DIRECT'S ASSISTANT JOB TO LEARN 4389 03:30:12,800 --> 03:30:15,035 EVERYTHING I CAN ABOUT THE JOB. 4390 03:30:15,102 --> 03:30:19,006 AFTER FIVE MONTHS I LANDED A JOB 4391 03:30:19,073 --> 03:30:22,576 TO THE DIRECTOR JOHN M SHU AND 4392 03:30:22,643 --> 03:30:26,981 WORKED ON CHRISSY RICH ASIANS. 4393 03:30:27,047 --> 03:30:30,517 -- CRAZY RICH ASIANS AND READ 4394 03:30:30,584 --> 03:30:31,552 THE BOOK AND TOLD HIM HOW TO 4395 03:30:31,618 --> 03:30:35,356 MAKE THE MOVIE AND A LIVED IN 4396 03:30:35,422 --> 03:30:37,691 MALACIA AND SING APPEAR AND IT 4397 03:30:37,758 --> 03:30:39,994 WAS THE BEST FILM SCHOOL I WAS 4398 03:30:40,060 --> 03:30:43,430 GETTING PAID TO DO AND YES, THE 4399 03:30:43,497 --> 03:30:46,500 CAST IS AS FUN AS ON SCREEN AND 4400 03:30:46,567 --> 03:30:48,802 YOU CAN SPOT ME ON THE VANITY 4401 03:30:48,869 --> 03:30:49,570 FAIR PHOTO. 4402 03:30:49,636 --> 03:30:51,105 I'M NOT HERE TO TELL YOU ABOUT 4403 03:30:51,171 --> 03:30:53,140 MY CAREER ADVANCES AND COOL 4404 03:30:53,207 --> 03:30:53,440 EXPERIENCES. 4405 03:30:53,507 --> 03:30:54,875 MORE IMPORTANTLY DURING THIS 4406 03:30:54,942 --> 03:30:56,610 PERIOD OF TIME SOMETHING WAS 4407 03:30:56,677 --> 03:30:58,012 HAPPENING TO MY IDENTITY. 4408 03:30:58,078 --> 03:30:59,713 I WAS TURNING 30 AND REALIZE THE 4409 03:30:59,780 --> 03:31:01,015 POWER OF REPRESENTATION AND 4410 03:31:01,081 --> 03:31:02,549 SEEING YOURSELF REPRESENTED IN 4411 03:31:02,616 --> 03:31:04,451 MEDIA AND TV HAS WEIGHT HOW YOU 4412 03:31:04,518 --> 03:31:06,086 FEEL ABOUT YOUR LIFE, IDENTITY 4413 03:31:06,153 --> 03:31:08,088 AND FUTURE. 4414 03:31:08,155 --> 03:31:10,457 THE ASIAN COMMUNITY WOULD WRITE 4415 03:31:10,524 --> 03:31:11,492 LETTERS TO JOHN SAYING HOW MUCH 4416 03:31:11,558 --> 03:31:15,195 IT MEANT TO THEM BECAUSE THE 4417 03:31:15,262 --> 03:31:16,363 CHARACTERS WERE COMPLEX LOVE 4418 03:31:16,430 --> 03:31:22,102 INTERESTS NOT NEGATIVE STEREO 4419 03:31:22,169 --> 03:31:24,972 CASTS THE PAST AND I NEVER SAW 4420 03:31:25,039 --> 03:31:26,640 MY EXPERIENCE REPRESENTED. 4421 03:31:26,707 --> 03:31:28,175 I GREW UP LOOKING AT MAGAZINES 4422 03:31:28,242 --> 03:31:30,144 AND TV SHOWS THAT DIDN'T INCLUDE 4423 03:31:30,210 --> 03:31:32,279 MANY DISABLED PEOPLE AND IF IT 4424 03:31:32,346 --> 03:31:33,414 DID IT USUALLY WASN'T THE 4425 03:31:33,480 --> 03:31:36,383 CHARACTER I CONNECTED WITH. 4426 03:31:36,450 --> 03:31:37,818 I BEGAN EXPLORING THE REASON 4427 03:31:37,885 --> 03:31:39,720 WHERE I HID MY DISABILITY AND 4428 03:31:39,787 --> 03:31:41,488 FELT ASHAMED AND STARTED TALKING 4429 03:31:41,555 --> 03:31:42,623 ABOUT IT PUBLICLY. 4430 03:31:42,689 --> 03:31:47,027 IN 2017 I PARTICIPATED IN A 4431 03:31:47,094 --> 03:31:48,128 PANCAKE VIDEO WHY I DID 4432 03:31:48,195 --> 03:31:50,097 SOMETHING I FEARED THE MOST. 4433 03:31:50,164 --> 03:31:51,098 I BECAME VULNERABLE AND TALKED 4434 03:31:51,165 --> 03:31:52,599 ABOUT MY SHAME. 4435 03:31:52,666 --> 03:31:56,670 IT WAS A PLATFORM FOR FIELD GOOD 4436 03:31:56,737 --> 03:31:59,406 AUTHENTIC STORIES CREATED BY 4437 03:31:59,473 --> 03:32:00,040 REIN WILSON. 4438 03:32:00,107 --> 03:32:03,477 AND I HAD COME ACROSS THE 4439 03:32:03,544 --> 03:32:05,646 FACEBOOK GROUP WITH PEOPLE WITH 4440 03:32:05,712 --> 03:32:06,080 DIFFERENT DISEASES. 4441 03:32:06,146 --> 03:32:07,681 IT WAS THE FIRST TIME I SAW 4442 03:32:07,748 --> 03:32:10,250 PEOPLE WHO LOOKED LIKE ME AND A 4443 03:32:10,317 --> 03:32:15,022 BLEW MY MIND ESPECIALLY WHEN I 4444 03:32:15,089 --> 03:32:17,825 SAW A LITTLE GIRL WITH SIMILAR 4445 03:32:17,891 --> 03:32:20,360 HANDS TO ME I ALL KEPT HIDDEN 4446 03:32:20,427 --> 03:32:23,130 AND REALIZED SHE NEEDED A ROLE 4447 03:32:23,197 --> 03:32:24,331 MODEL AND THERE I WAS DOING ALL 4448 03:32:24,398 --> 03:32:27,334 THESE AMAZING THINGS, TRAVELLING 4449 03:32:27,401 --> 03:32:29,837 AROUND THE WORLD WITH TV SHOWS 4450 03:32:29,903 --> 03:32:31,872 AND HIDING MY BODY ON SOCIAL 4451 03:32:31,939 --> 03:32:33,607 MEDIA AND PRETEND MY DISEASE 4452 03:32:33,674 --> 03:32:34,308 DOESN'T EXIST AND THE 4453 03:32:34,374 --> 03:32:36,243 OPPORTUNITY TO SHARE MY STORY ON 4454 03:32:36,310 --> 03:32:37,511 THE FACEBOOK PLATFORM CAME 4455 03:32:37,578 --> 03:32:37,711 ALONG. 4456 03:32:37,778 --> 03:32:39,146 I WAS TERRIFIED TO DO IT AND 4457 03:32:39,213 --> 03:32:41,348 TRIED TO BACK OUT A COUPLE TIMES 4458 03:32:41,415 --> 03:32:43,317 BUT THE DIRECTOR TOLD ME MY 4459 03:32:43,383 --> 03:32:44,384 STORY HAD SO MUCH POWER. 4460 03:32:44,451 --> 03:32:46,019 SO I DECIDED TO BE VULNERABLE 4461 03:32:46,086 --> 03:32:47,554 WITH OTHERS ABOUT MY STRUGGLES 4462 03:32:47,621 --> 03:32:50,057 AND IN THE VIDEO I WORE A JACKET 4463 03:32:50,124 --> 03:32:51,792 AND TOOK IT OFF AT THE END 4464 03:32:51,859 --> 03:32:53,594 SHOWING PARTS OF MY BODY I WAS 4465 03:32:53,660 --> 03:32:54,862 SCARED TO SHARE WITH THE 4466 03:32:54,928 --> 03:32:55,129 INTERNET. 4467 03:32:55,195 --> 03:32:56,763 WHEN THE VIDEO DROPPED IN 2017 4468 03:32:56,830 --> 03:32:58,899 IT WENT VIRAL AND TODAY THE 4469 03:32:58,966 --> 03:33:03,270 VIDEO HAS OVER 58 MILLION VIEWS 4470 03:33:03,337 --> 03:33:04,905 AND CONNECTED ME WITH PEOPLE I 4471 03:33:04,972 --> 03:33:06,940 WOULD HAVE NEVER MET INCLUDING 4472 03:33:07,007 --> 03:33:08,008 THE RESEARCHERS CURRENTLY WORK 4473 03:33:08,075 --> 03:33:09,309 ON RESEARCH FOR OUR DISEASE AT 4474 03:33:09,376 --> 03:33:12,212 THE NIH. 4475 03:33:12,279 --> 03:33:14,381 TANARA AND CAROLINA ARE 4476 03:33:14,448 --> 03:33:15,282 COMMUNITY IS FOREVER GRATEFUL 4477 03:33:15,349 --> 03:33:18,152 FOR YOU AND YOUR TEAM WHO WORKED 4478 03:33:18,218 --> 03:33:19,620 TIRELESSLY TO UNDERSTAND THIS 4479 03:33:19,686 --> 03:33:20,187 DISEASE. 4480 03:33:20,254 --> 03:33:23,490 ALSO INCLUDING I MET MY HUS 4481 03:33:23,557 --> 03:33:25,859 HUSBAND TWO TOOK THESE PHOTOS 4482 03:33:25,926 --> 03:33:26,426 DOCUMENTING MY EXPERIENCE. 4483 03:33:26,493 --> 03:33:28,328 HE SAW MY VIDEO ON FACEBOOK IS 4484 03:33:28,395 --> 03:33:31,765 ALSO HERE TODAY SOMEWHERE IN THE 4485 03:33:31,832 --> 03:33:36,937 BACK. 4486 03:33:37,004 --> 03:33:40,941 YOU ALSO MADE A FRIEND AND OUR 4487 03:33:41,008 --> 03:33:42,876 DISEASE CAUSED AN INCUR CANCER 4488 03:33:42,943 --> 03:33:45,112 AND SHE PASSED IN DECEMBER. 4489 03:33:45,179 --> 03:33:46,246 I CONTINUE TO ADVOCATE FOR HER 4490 03:33:46,313 --> 03:33:46,947 LEGACY. 4491 03:33:47,014 --> 03:33:50,317 I WANT TO SHARE THIS QUOTE FROM 4492 03:33:50,384 --> 03:33:52,553 BERNE BROWN VULNERABILITY IS THE 4493 03:33:52,619 --> 03:33:54,988 PLACE OF LOVE, COURAGE, JOY AND 4494 03:33:55,055 --> 03:33:55,989 CREATIVITY. 4495 03:33:56,056 --> 03:33:57,724 THERE'S THE SOURCE OF HOPE, 4496 03:33:57,791 --> 03:33:59,560 ACCOUNTABILITY, AUTHENTICITY. 4497 03:33:59,626 --> 03:34:00,994 IF WE WANT GREATER CLARITY IN 4498 03:34:01,061 --> 03:34:03,697 OUR PURPOSE OR DEEPER MORE 4499 03:34:03,764 --> 03:34:05,432 MEANINGFUL MORE SPIRITUAL LIVES, 4500 03:34:05,499 --> 03:34:06,967 VULNERABILITY IS OUR PATH. 4501 03:34:07,034 --> 03:34:08,502 BEING VULNERABLE SAY RISK WE 4502 03:34:08,569 --> 03:34:10,170 HAVE TO TAKE IF WE WANT TO 4503 03:34:10,237 --> 03:34:11,872 EXPERIENCE TRUE CONNECTION. 4504 03:34:11,939 --> 03:34:13,674 IN 2017 AFTER THE VIDEO DROPPED, 4505 03:34:13,740 --> 03:34:16,677 I DECIDED TO TAKE MY 4506 03:34:16,743 --> 03:34:18,979 VULNERABILITY LEVEL TO A WHOLE 4507 03:34:19,046 --> 03:34:21,582 OTHER LEVEL AND LEAP FROM FOR 4508 03:34:21,648 --> 03:34:22,182 WILDEST DREAMS. 4509 03:34:22,249 --> 03:34:26,853 WITH HIS BLESSING I QUIT WORKING 4510 03:34:26,920 --> 03:34:30,190 WITH JOHN CHU AND MADE A FILM 4511 03:34:30,257 --> 03:34:33,727 CALLED BLU WITH A REAL BUDGET 4512 03:34:33,794 --> 03:34:34,828 AND EXPLORED THEMES OF HIDE WHO 4513 03:34:34,895 --> 03:34:36,463 WILL WE ARE AND MISSING OUT ON 4514 03:34:36,530 --> 03:34:37,764 CONNECTIONS THAT MIGHT HEAL US. 4515 03:34:37,831 --> 03:34:40,834 THE FILM LANDED ME A SPOT IN THE 4516 03:34:40,901 --> 03:34:42,102 DIRECTING WORKSHOP FOR WOMEN. 4517 03:34:42,169 --> 03:34:43,437 THEY ONLY CHOOSE EIGHT WOMEN A 4518 03:34:43,503 --> 03:34:46,106 YEAR AND I WAS ONE OF. 4519 03:34:46,173 --> 03:34:48,041 I CREATED A SHORT CALLED SINGLE 4520 03:34:48,108 --> 03:34:50,677 WHERE I WAS ABOUT MY COMPLEX 4521 03:34:50,744 --> 03:34:51,411 FEELINGS ABOUT DISABILITY. 4522 03:34:51,478 --> 03:34:54,581 IT WAS THE ART I WAS SCARED TO 4523 03:34:54,648 --> 03:34:56,750 MAKE IT GOT SELECTED TO PLAY AT 4524 03:34:56,817 --> 03:34:58,885 THE SOUTH BY SOUTHWEST FILM 4525 03:34:58,952 --> 03:35:01,255 FESTIVAL AND WON AN AWARD AND 4526 03:35:01,321 --> 03:35:03,690 LANDED ME AGENTS AND MANAGERS AT 4527 03:35:03,757 --> 03:35:04,891 SOME OF THE MOST PRESTIGIOUS 4528 03:35:04,958 --> 03:35:05,192 COMPANIES. 4529 03:35:05,259 --> 03:35:06,560 FROM THERE, MY CAREER TOOK OFF 4530 03:35:06,627 --> 03:35:08,395 AS A WRITER DIRECTOR. 4531 03:35:08,462 --> 03:35:11,298 TODAY I HAVE DIRECTED TWO 4532 03:35:11,365 --> 03:35:13,367 EPISODES OF A SHOW CALLED BEST 4533 03:35:13,433 --> 03:35:16,570 FOOT FORWARD AND EPISODE OF 4534 03:35:16,637 --> 03:35:19,840 GROWING UP FOR DISNEY PLUS AND A 4535 03:35:19,906 --> 03:35:23,510 BIG BUDGET FOR NETFLIX CALLED 4536 03:35:23,577 --> 03:35:28,115 FORGIVE US TRESPASSES AND I 4537 03:35:28,181 --> 03:35:29,283 SHOWED HOLLYWOOD THAT PEOPLE 4538 03:35:29,349 --> 03:35:31,952 WITH DISABILITIES BELONG IN 4539 03:35:32,019 --> 03:35:35,489 OUR INDUSTRY I DIRECTED SIX 4540 03:35:35,555 --> 03:35:38,925 SHORT FILMS AND A TV SHOW IN 4541 03:35:38,992 --> 03:35:44,131 DEVELOPMENT WITH FX NETWORK AND 4542 03:35:44,197 --> 03:35:47,534 ALL THESE PROJECTS INCLUDE 4543 03:35:47,601 --> 03:35:49,069 AUTHENTIC DISABLED CHARACTERS 4544 03:35:49,136 --> 03:35:51,638 WITH NUANCED STORIES AND COMPLEX 4545 03:35:51,705 --> 03:35:52,539 PERSONALITY SHOWING THE RANGE OF 4546 03:35:52,606 --> 03:35:54,007 OUR EXPERIENCES IN HUMANITY. 4547 03:35:54,074 --> 03:35:56,977 NOT ONLY HAVE OUR TV AND FILM 4548 03:35:57,044 --> 03:35:58,612 STARTED TO GET BETTER AND SHOW 4549 03:35:58,679 --> 03:35:59,479 MORE REPRESENTATION BUT 4550 03:35:59,546 --> 03:36:01,114 COMMERCIALS, MAGAZINES, STORE 4551 03:36:01,181 --> 03:36:02,716 ADS, I WALKED INTO TARGET AND 4552 03:36:02,783 --> 03:36:06,153 THERE WAS A DISABLED DOG, I WAS 4553 03:36:06,219 --> 03:36:07,888 LIKE WHAT IS HAPPENING. 4554 03:36:07,954 --> 03:36:08,689 MOST IMPORTANTLY SOCIAL MEDIA. 4555 03:36:08,755 --> 03:36:11,458 I HAVE MET SO MANY AMAZING 4556 03:36:11,525 --> 03:36:12,693 DISABLED PEOPLE FROM ALL FACETS 4557 03:36:12,759 --> 03:36:14,294 OF LIFE BECAUSE EVERYONE HAS 4558 03:36:14,361 --> 03:36:16,229 DECIDED TO BE VULNERABLE ABOUT 4559 03:36:16,296 --> 03:36:17,097 THEIR JOURNEYS. 4560 03:36:17,164 --> 03:36:19,466 WE'RE SHOWING THE WORLD HAVING A 4561 03:36:19,533 --> 03:36:20,600 DISABILITY OR RARE DISEASE IS 4562 03:36:20,667 --> 03:36:23,737 NOT INHERENTLY NEGATIVE. 4563 03:36:23,804 --> 03:36:25,706 CAN HAVE A DISABILITY AND 4564 03:36:25,772 --> 03:36:25,939 THRIVE. 4565 03:36:26,006 --> 03:36:27,374 I COULD NOT BE MORE PROUD TO BE 4566 03:36:27,441 --> 03:36:29,810 A PART OF THIS COMMUNITY. 4567 03:36:29,876 --> 03:36:32,946 IN CLOSING I'M HERE TO TELL TO 4568 03:36:33,013 --> 03:36:34,681 YOU CHASE YOUR WILDEST DREAM. 4569 03:36:34,748 --> 03:36:36,583 I STOOD IN MY OWN WAY AND ALL 4570 03:36:36,650 --> 03:36:38,151 THE PEACE AND PURPOSE WAS ON THE 4571 03:36:38,218 --> 03:36:40,187 OTHER SIDE OF FEAR, GO TOWARDS 4572 03:36:40,253 --> 03:36:40,821 IT, CHASE IT. 4573 03:36:40,887 --> 03:36:51,331 IT COULD CHANGE YOUR LIFE. 4574 03:37:34,474 --> 03:37:36,476 >> ALL RIGHT. 4575 03:37:36,543 --> 03:37:41,314 UP NEXT WE HAVE DR. FUMIHIKO 4576 03:37:41,381 --> 03:37:48,789 URANO FOR RARE STORY 6. 4577 03:37:48,855 --> 03:37:51,291 >> GOOD AFTERNOON, EVERYONE. 4578 03:37:51,358 --> 03:37:56,630 I AM FUMIHIKO URANO FROM THE 4579 03:37:56,696 --> 03:37:57,697 WASHINGTON SCHOOL OF MEDICINE. 4580 03:37:57,764 --> 03:37:59,366 I'D LIKE TO THANK THE ORGANIZERS 4581 03:37:59,433 --> 03:38:01,968 OF THE MEETING FOR COORDINATING 4582 03:38:02,035 --> 03:38:04,004 THIS IMPORTANT MEETING. 4583 03:38:04,070 --> 03:38:06,206 I ALWAYS ACKNOWLEDGE AND 4584 03:38:06,273 --> 03:38:07,707 APPRECIATE THE SUPPORT FROM 4585 03:38:07,774 --> 03:38:07,908 NCATS. 4586 03:38:07,974 --> 03:38:08,875 THANK YOU. 4587 03:38:08,942 --> 03:38:14,414 SO TODAY I'M GOING TO TALK ABOUT 4588 03:38:14,481 --> 03:38:16,316 RARE DISEASE WOLFRAM SYNDROME 4589 03:38:16,383 --> 03:38:20,120 AND THE THERAPEUTIC DEVELOPMENT. 4590 03:38:20,187 --> 03:38:25,091 HERE ARE MY DISCLOSURES. 4591 03:38:25,158 --> 03:38:30,964 OUR WOLFRAM SYNDROME IS BASED ON 4592 03:38:31,031 --> 03:38:35,235 COLLABORATIONS INCLUDING ONE 4593 03:38:35,302 --> 03:38:36,503 WITH NCATS. 4594 03:38:36,570 --> 03:38:37,604 I HAVE SO MANY GRACIOUS 4595 03:38:37,671 --> 03:38:38,972 COLLABORATORS ALL OVER THE WORLD 4596 03:38:39,039 --> 03:38:42,476 AND OUR TEAM MEMBERS HAVE DONE A 4597 03:38:42,542 --> 03:38:43,243 GREAT JOB. 4598 03:38:43,310 --> 03:38:45,645 SO HERE IS THE STRUCTURE OF MY 4599 03:38:45,712 --> 03:38:47,414 TALK TODAY. 4600 03:38:47,481 --> 03:38:49,583 SO I WILL INTRODUCE WOLFRAM 4601 03:38:49,649 --> 03:38:51,184 SYNDROME TO YOU FIRST. 4602 03:38:51,251 --> 03:38:52,986 THEN I'M GOING TO SHARE LESSONS 4603 03:38:53,053 --> 03:39:03,396 AND STORIES FROM OUR PAST OUR 4604 03:39:03,463 --> 03:39:04,731 STUDIES AND OUR THERAPEUTIC 4605 03:39:04,798 --> 03:39:06,233 PROJECT FOR WOLFRAM SYNDROME AND 4606 03:39:06,299 --> 03:39:09,135 FINALLY I WANT TO EMPHASIZE THE 4607 03:39:09,202 --> 03:39:11,771 NEED FOR COOPERATION FOR PATIENT 4608 03:39:11,838 --> 03:39:14,708 ORGANIZATIONS AND INDUSTRY 4609 03:39:14,774 --> 03:39:20,013 PARTNERS. 4610 03:39:20,080 --> 03:39:23,250 WHAT IS WOLFRAM SYNDROME? 4611 03:39:23,316 --> 03:39:24,584 AS THE A RARE DISORDER 4612 03:39:24,651 --> 03:39:28,121 CHARACTERIZED BY JUVENILE ONSET 4613 03:39:28,188 --> 03:39:31,458 DIABETES AT 6. 4614 03:39:31,525 --> 03:39:34,261 IT'S ANTIBODY PEPTIDE POSITIVE 4615 03:39:34,327 --> 03:39:34,594 DIABETES. 4616 03:39:34,661 --> 03:39:37,364 IT'S NOT TYPE 1 DIABETES BUT THE 4617 03:39:37,430 --> 03:39:38,498 PATIENTS BECOME DIABETIC WHEN 4618 03:39:38,565 --> 03:39:44,738 THEY ARE YOUNG. 4619 03:39:44,804 --> 03:39:51,278 AND AROUND AGE 11 IT CAN LEAD TO 4620 03:39:51,344 --> 03:39:53,146 BLINDNESS AND VISION LOSS AND 4621 03:39:53,213 --> 03:39:57,150 DEAFNESS IS SEEN TO 80% TO 85% 4622 03:39:57,217 --> 03:39:59,085 OF PATIENTS WITH WOLFRAM 4623 03:39:59,152 --> 03:40:00,654 SYNDROME AND IT TARGETS 4624 03:40:00,720 --> 03:40:02,923 DIFFERENT TISSUES AND ORGANS IN 4625 03:40:02,989 --> 03:40:09,896 THE BODY. 4626 03:40:09,963 --> 03:40:13,800 NEURODEGENERATION IS A MAJOR 4627 03:40:13,867 --> 03:40:14,634 COMPLICATION AND APPEARS IN THE 4628 03:40:14,701 --> 03:40:18,772 LATER YEARS OF ADOLESCENCE AND 4629 03:40:18,838 --> 03:40:25,745 HAVE CEREBRAL ATROPHY AND 4630 03:40:25,812 --> 03:40:30,016 CEREBELLUM ATROPHY CAN LEAD TO 4631 03:40:30,083 --> 03:40:31,718 PROBLEMS AND CAN CAUSE BREATHING 4632 03:40:31,785 --> 03:40:34,688 AND SWALLOWING PROBLEMS. 4633 03:40:34,754 --> 03:40:35,989 MANY PATIENTS DIE TO THE 4634 03:40:36,056 --> 03:40:37,891 ASPIRATION OF PNEUMONIA. 4635 03:40:37,958 --> 03:40:39,492 THERE'S TWO CAUSATIVE GENES FOR 4636 03:40:39,559 --> 03:40:45,565 THE SYNDROME, WFS1 AND THE 4637 03:40:45,632 --> 03:40:45,932 CSID2. 4638 03:40:45,999 --> 03:40:49,536 THERE'S TWO TYPES OF WOLFRAM 4639 03:40:49,603 --> 03:40:49,903 SYNDROME. 4640 03:40:49,970 --> 03:40:53,239 TYPE 1 CAUSED BY PATHOGENIC 4641 03:40:53,306 --> 03:40:57,644 VARIANTS IN THE WFS1 GENE AND 4642 03:40:57,711 --> 03:41:01,615 TYPE 2 IS CALLED BY PATHOGENIC 4643 03:41:01,681 --> 03:41:05,085 VARIANTS IN THE CISD2 GENE. 4644 03:41:05,151 --> 03:41:07,253 MOST PATIENTS IN THE UNITED 4645 03:41:07,320 --> 03:41:11,658 STATES CARRY VARIANTS IN THE 4646 03:41:11,725 --> 03:41:14,394 WFS1 GENE AND IT WAS IDENTIFIED 4647 03:41:14,461 --> 03:41:15,228 BY WASHINGTON UNIVERSITY AND I'D 4648 03:41:15,295 --> 03:41:19,833 LIKE TO GO OVER HIS RESEARCH 4649 03:41:19,899 --> 03:41:21,601 PROGRAM. 4650 03:41:21,668 --> 03:41:25,071 SO PREVALENCE OF THE THESE IS 1 4651 03:41:25,138 --> 03:41:27,474 IN 270,000. 4652 03:41:27,540 --> 03:41:30,310 THIS IS AN RECESSSIVE DISORDER 4653 03:41:30,377 --> 03:41:32,779 WHICH MEANS WE ALL HAVE TWO 4654 03:41:32,846 --> 03:41:34,848 COPIES OF WFS1 GENE. 4655 03:41:34,914 --> 03:41:36,516 ONE FROM OUR FATHER AND ONE FROM 4656 03:41:36,583 --> 03:41:41,388 OUR MOTHER AND IF WE GET TWO 4657 03:41:41,454 --> 03:41:43,523 MUTATED COPIES WE DEVELOP 4658 03:41:43,590 --> 03:41:44,257 WOLFRAM SYNDROME. 4659 03:41:44,324 --> 03:41:48,294 AND I HAVE BEEN WORKING ON THIS 4660 03:41:48,361 --> 03:41:49,896 DISEASE IN THE PAST 22 YEARS AND 4661 03:41:49,963 --> 03:41:54,768 SO WE HAVE BOTH CLINICAL 4662 03:41:54,834 --> 03:41:55,368 RESEARCH PROGRAM AS WELL AS 4663 03:41:55,435 --> 03:41:57,303 BASIC SCIENCE RESEARCH PROGRAM. 4664 03:41:57,370 --> 03:41:59,739 THROUGH OUR CLINICAL PROGRAM WE 4665 03:41:59,806 --> 03:42:01,875 HAVE MEDICAL RECORDS OF MORE 4666 03:42:01,941 --> 03:42:06,379 THAN 300 PATIENTS AND WE HAVE 4667 03:42:06,446 --> 03:42:07,747 LONGITUDINAL STUDY DATA FROM 4668 03:42:07,814 --> 03:42:09,516 MORE THAN 50 PATIENTS. 4669 03:42:09,582 --> 03:42:12,419 WE HAVE BIOLOGICAL SAMPLES FROM 4670 03:42:12,485 --> 03:42:14,754 MORE THAN 100 PATIENTS AND 4671 03:42:14,821 --> 03:42:18,324 CREATED MORE THAN 30IPSC LINES 4672 03:42:18,391 --> 03:42:20,560 AND WE PROVIDE FREE GENETIC 4673 03:42:20,627 --> 03:42:22,929 TESTING FOR PATIENTS AND THEIR 4674 03:42:22,996 --> 03:42:25,398 FAMILY MEMBERS AND ACCEPT 4675 03:42:25,465 --> 03:42:26,966 REFERRAL FROM OTHER STATES AND 4676 03:42:27,033 --> 03:42:30,170 COUNTRIES. 4677 03:42:30,236 --> 03:42:34,240 AND THIS IS LINKED TO MY CLINIC 4678 03:42:34,307 --> 03:42:36,810 AT WASHINGTON UNIVERSITY MEDICAL 4679 03:42:36,876 --> 03:42:38,211 CENTER. 4680 03:42:38,278 --> 03:42:41,047 MY OF STACY HURST IS MY 4681 03:42:41,114 --> 03:42:42,282 COORDINATOR SO IF YOU HAVE 4682 03:42:42,348 --> 03:42:47,120 PATIENTS WITH WOLFRAM SYNDROME 4683 03:42:47,187 --> 03:42:49,022 REFER YOUR PATIENTS TO HER. 4684 03:42:49,089 --> 03:42:49,389 SHE'S FANTASTIC. 4685 03:42:49,456 --> 03:42:52,625 THROUGH STUDIES WE LEARNED 4686 03:42:52,692 --> 03:42:53,893 WOLFRAM SYNDROME IS A SPECTRUM 4687 03:42:53,960 --> 03:42:54,928 OF DISORDERS. 4688 03:42:54,994 --> 03:42:57,997 SO SOME PATIENTS HAVE VERY MILD 4689 03:42:58,064 --> 03:42:59,799 MANIFESTATIONS AND SOME PATIENTS 4690 03:42:59,866 --> 03:43:03,436 HAVE VERY SEVERE MANIFESTATIONS. 4691 03:43:03,503 --> 03:43:07,373 AND WE LEARNED THAT FEMALES HAVE 4692 03:43:07,440 --> 03:43:10,376 MINOR MANIFESTATIONS COMPARED TO 4693 03:43:10,443 --> 03:43:15,482 MALES AND IDENTIFIED TYPES OF 4694 03:43:15,548 --> 03:43:20,687 MUTATIONS RELATED TO MILD 4695 03:43:20,754 --> 03:43:23,490 MANIFESTATIONS THAT ARE 4696 03:43:23,556 --> 03:43:25,358 TECHNICAL AND WEFIDE VARIANTS 4697 03:43:25,425 --> 03:43:31,598 ASSOCIATED WITH SEVERE 4698 03:43:31,664 --> 03:43:31,965 MANIFESTATIONS. 4699 03:43:32,031 --> 03:43:34,467 THESE ARE FRAME SHIFT WARRANTS. 4700 03:43:34,534 --> 03:43:37,437 INTERESTINGLY WE IDENTIFIED A 4701 03:43:37,504 --> 03:43:38,738 WFS1 VARIANT ASSOCIATED WITH 4702 03:43:38,805 --> 03:43:41,141 MILD MANIFESTATIONS. 4703 03:43:41,207 --> 03:43:48,281 THIS VARIANT IS CALLED WFS1. 4704 03:43:48,348 --> 03:43:50,550 HERE YOU GO. 4705 03:43:50,617 --> 03:43:52,685 IT'S A VARIANT AND THE VARIANT 4706 03:43:52,752 --> 03:43:56,389 IS ASSOCIATED WITH VERY MILD 4707 03:43:56,456 --> 03:44:01,427 MANIFESTATIONS AND ALL THE 4708 03:44:01,494 --> 03:44:10,003 PATIENTS I HAVE OF ASHKENAZI 4709 03:44:10,069 --> 03:44:11,671 JEWISH POPULATIONS AND THEY MAY 4710 03:44:11,738 --> 03:44:13,907 NOT DEVELOP ALL THE SYMPTOMS 4711 03:44:13,973 --> 03:44:17,277 SEEN IN WOLFRAM BUT MAY DEVELOP 4712 03:44:17,343 --> 03:44:18,711 MILD DIABETES OR ATROPHY. 4713 03:44:18,778 --> 03:44:22,949 IF YOU HAVE A PATIENT WITH 4714 03:44:23,016 --> 03:44:27,453 ATYPICAL DIABETES AND OF 4715 03:44:27,520 --> 03:44:31,124 ASHKENAZI DESCENT REFER YOUR 4716 03:44:31,191 --> 03:44:31,457 PATIENTS. 4717 03:44:31,524 --> 03:44:37,063 THESE STUDIES ARE RUN BY OUR 4718 03:44:37,130 --> 03:44:44,704 MEDICAL STUDENTS. 4719 03:44:44,771 --> 03:44:48,641 WOLFRAM SYNDROME RELATED 4720 03:44:48,708 --> 03:44:49,075 DISORDERS. 4721 03:44:49,142 --> 03:44:50,677 WOLFRAM SYNDROME IS CAUSED BY 4722 03:44:50,743 --> 03:44:53,446 HAVING TWO MUTATED COPIES BUT 4723 03:44:53,513 --> 03:44:54,380 THERE ARE DISORDERS CAUSED BY 4724 03:44:54,447 --> 03:44:57,317 HAVING ONLY ONE MUTATED COPY. 4725 03:44:57,383 --> 03:45:01,888 AND WE CALL THEM WFS1 RELATED 4726 03:45:01,955 --> 03:45:02,222 DISORDERS. 4727 03:45:02,288 --> 03:45:04,991 SOMETIMES BY HAVING ONE MUTATED 4728 03:45:05,058 --> 03:45:08,161 COPY OF THE WFS1 GENE YOU MAY 4729 03:45:08,228 --> 03:45:11,531 DEVELOP HEARING LOSS ONLY. 4730 03:45:11,598 --> 03:45:15,468 THIS IS ACTUALLY OFTEN SEEN IN 4731 03:45:15,535 --> 03:45:17,737 PEDIATRIC PATIENTS OR DIABETES 4732 03:45:17,804 --> 03:45:22,775 ONLY OR OPTIC ATROPHY AND WE 4733 03:45:22,842 --> 03:45:24,544 IDENTIFIED THREE SPECIFIC 4734 03:45:24,611 --> 03:45:25,712 DOMINANT VARIANTS ASSOCIATED 4735 03:45:25,778 --> 03:45:29,482 WITH DEVELOPMENTAL DELAY, 4736 03:45:29,549 --> 03:45:30,817 INTELLECTUAL DISABILITY, 4737 03:45:30,884 --> 03:45:36,289 DIABETES, CATARACTS, HEARING 4738 03:45:36,356 --> 03:45:43,029 LOSS AND HYPOTONIA AND ATAXIA. 4739 03:45:43,096 --> 03:45:47,500 WE ALSO CALL THEM WOLFRAM LIKE 4740 03:45:47,567 --> 03:45:51,938 DISORDERS AND WE PUBLISHED 4741 03:45:52,005 --> 03:45:59,479 PAPERS AND ONE PROJECT WAS WITH 4742 03:45:59,545 --> 03:46:01,180 THE NIH. 4743 03:46:01,247 --> 03:46:03,483 THIS WAS AROUND EIGHT YEARS AGO. 4744 03:46:03,549 --> 03:46:07,487 WE IDENTIFIED A DOMINANT VARIANT 4745 03:46:07,553 --> 03:46:14,861 ASSOCIATED WITH DIABETES ONLY. 4746 03:46:14,928 --> 03:46:16,763 HERE IS OUR CURRENT INFORMATION 4747 03:46:16,829 --> 03:46:20,300 OF THE GENETIC SYNDROME AND WFS 4748 03:46:20,366 --> 03:46:21,234 RELATED DISORDERS. 4749 03:46:21,301 --> 03:46:23,937 TO HAVE TWO MUTATED COPIES CAN 4750 03:46:24,003 --> 03:46:27,073 CAUSE WOLFRAM SYNDROME 4751 03:46:27,140 --> 03:46:28,574 CHARACTERIZED BY DIABETES 4752 03:46:28,641 --> 03:46:31,811 MYELITIS AND OPTIC NERVE 4753 03:46:31,878 --> 03:46:34,714 ATROPHY, HEARING LOSS AND NEURO 4754 03:46:34,781 --> 03:46:36,249 DEGENERATION AND THERE'S OTHER 4755 03:46:36,316 --> 03:46:38,751 RELATED DISEASES. 4756 03:46:38,818 --> 03:46:42,021 ALSO RECESSSIVE WITH DOMINANT 4757 03:46:42,088 --> 03:46:42,722 DISEASES. 4758 03:46:42,789 --> 03:46:53,199 WOLFRAM IS ULTIMATELY 4759 03:46:53,866 --> 03:47:04,010 RECESSSIVE. 4760 03:47:06,679 --> 03:47:06,813 AND 4761 03:47:06,879 --> 03:47:09,816 THEY CANNOT SENSE THE AMOUNT OF 4762 03:47:09,882 --> 03:47:12,585 URINE IN THEIR BLADDER AND NOT 4763 03:47:12,652 --> 03:47:14,554 PUSH OUT URINE VERY EFFICIENTLY. 4764 03:47:14,620 --> 03:47:20,827 THIS CAN LEAD TO URINARY TRACT 4765 03:47:20,893 --> 03:47:22,695 INFECTION AND CAN BE PREVENT 4766 03:47:22,762 --> 03:47:28,067 TESTING AND MEDICATIONS AND 4767 03:47:28,134 --> 03:47:29,302 PROCEDURES. 4768 03:47:29,369 --> 03:47:34,407 RESPIRATORY FAILURE IS ONE OF 4769 03:47:34,474 --> 03:47:36,576 THE COMPLICATIONS AND WE CAN 4770 03:47:36,642 --> 03:47:42,782 PREVENT THIS IN PATIENTS. 4771 03:47:42,849 --> 03:47:44,784 CHOKING IS THE MOST DANGEROUS 4772 03:47:44,851 --> 03:47:47,320 COMPLICATION IN PATIENTS WITH 4773 03:47:47,387 --> 03:47:47,553 WOLFRAM. 4774 03:47:47,620 --> 03:47:55,461 THIS CAN BE ALSO PREVENTED BY 4775 03:47:55,528 --> 03:47:57,697 CONDUCTING SWALLOW TESTS AND 4776 03:47:57,764 --> 03:48:03,369 WORKING WITH SPEECH 4777 03:48:03,436 --> 03:48:03,703 PATHOLOGISTS. 4778 03:48:03,770 --> 03:48:14,313 IT'S IMPORTANT TO WITH THE NODE 4779 03:48:17,050 --> 03:48:18,551 AND RARE CAP PROGRAM WE'RE 4780 03:48:18,618 --> 03:48:19,118 DEVELOPING GUIDELINES. 4781 03:48:19,185 --> 03:48:21,687 RARE CAP IS AN INTERESTING 4782 03:48:21,754 --> 03:48:25,158 PROJECT BECAUSE IT'S A CLOUD 4783 03:48:25,224 --> 03:48:26,959 BASED SYSTEM TO CREATE CLINICAL 4784 03:48:27,026 --> 03:48:31,664 GUIDELINES. 4785 03:48:31,731 --> 03:48:33,199 MANY CAN SUBMIT IDEAS THROUGH 4786 03:48:33,266 --> 03:48:33,833 RARE CAP. 4787 03:48:33,900 --> 03:48:35,468 THIS IS WHAT WE ARE WORKING ON 4788 03:48:35,535 --> 03:48:42,508 RIGHT NOW. 4789 03:48:42,575 --> 03:48:44,043 MEARS THE SIGNIFICANCE OF 4790 03:48:44,110 --> 03:48:44,744 CLINICAL STUDIES. 4791 03:48:44,811 --> 03:48:46,712 THEY INCLUDE THE ABILITY TO 4792 03:48:46,779 --> 03:48:49,182 IDENTIFY PATIENT COHORTS, HELP 4793 03:48:49,248 --> 03:48:50,917 RESEARCHERS IDENTIFY BEST 4794 03:48:50,983 --> 03:48:53,753 OUTCOME MEASURES FOR CLINICAL 4795 03:48:53,820 --> 03:48:55,488 TRIALS AND HELP PHYSICIANS 4796 03:48:55,555 --> 03:48:58,925 UNDERSTAND THE IMPACT OF 4797 03:48:58,991 --> 03:49:01,761 COMORBID CONDITIONS. 4798 03:49:01,828 --> 03:49:03,663 WE NEED TREATMENT FOR WOLFRAM 4799 03:49:03,729 --> 03:49:04,831 SYNDROME TO ACHIEVE A CURE FOR 4800 03:49:04,897 --> 03:49:07,366 THE DISORDER. 4801 03:49:07,433 --> 03:49:09,368 HERE IS OUR THREE-STEP FORMULA 4802 03:49:09,435 --> 03:49:11,904 TO ACHIEVE A CURE FOR WOLFRAM 4803 03:49:11,971 --> 03:49:13,005 SYNDROME. 4804 03:49:13,072 --> 03:49:15,975 THE FIRST STEP IS TO SLOW 4805 03:49:16,042 --> 03:49:18,611 PROGRESSION USING ORAL 4806 03:49:18,678 --> 03:49:18,911 MEDICATIONS. 4807 03:49:18,978 --> 03:49:21,414 SECOND STEP IS TO HALT 4808 03:49:21,481 --> 03:49:23,749 PROGRESSION BY GENE EDITING 4809 03:49:23,816 --> 03:49:27,053 THERAPY OR GENE THERAPY AND STEP 4810 03:49:27,120 --> 03:49:31,124 THREE IS REVISED DAMAGED TISSUES 4811 03:49:31,190 --> 03:49:34,193 THROUGH REGENERATIVE THERAPY. 4812 03:49:34,260 --> 03:49:34,794 HERE IS OUR THERAPEUTIC 4813 03:49:34,861 --> 03:49:36,462 DEVELOPMENT PIPELINES AND THE 4814 03:49:36,529 --> 03:49:36,929 TIME LINE. 4815 03:49:36,996 --> 03:49:39,765 SO ROOT CAUSE OF THE DISEASE IS 4816 03:49:39,832 --> 03:49:45,071 ON THE LEFT MUTATIONS IN THE 4817 03:49:45,138 --> 03:49:46,439 WFS1 GENE. 4818 03:49:46,506 --> 03:49:51,244 THIS CAN LEAD TO ENDOPLASMIC 4819 03:49:51,310 --> 03:49:53,079 RETICULUM STRESS PLAYING A MAJOR 4820 03:49:53,146 --> 03:49:54,480 ROLE IN WOLFRAM SYNDROME AND 4821 03:49:54,547 --> 03:49:59,452 THIS CAN LEAD TO DEATH OF 4822 03:49:59,519 --> 03:50:02,955 NEURONS AND GANGLION CELLS AND 4823 03:50:03,022 --> 03:50:11,164 INSULIN PRODUCING CELLS AND THE 4824 03:50:11,230 --> 03:50:13,699 OUTCOMES ARE CLINICAL 4825 03:50:13,766 --> 03:50:14,433 MANIFESTATIONS LIKE DIABETES AND 4826 03:50:14,500 --> 03:50:16,335 VISION LOSS. 4827 03:50:16,402 --> 03:50:24,544 WE TRY TO TARGET THE ENDOPLASMIC 4828 03:50:24,610 --> 03:50:27,146 RETICULUM STRESS AND WE HAVE 4829 03:50:27,213 --> 03:50:29,015 COMPOUND SCREENING USING FDA 4830 03:50:29,081 --> 03:50:38,057 APPROVED DRUGS AND WE IDENTIFY 4831 03:50:38,124 --> 03:50:40,159 DANTROLENE SODIUM HAS BEEN 4832 03:50:40,226 --> 03:50:47,500 APPROVED FOR THE TREATMENT OF 4833 03:50:47,567 --> 03:50:49,735 MALIGNANT HYPERTHERMIA AND WE 4834 03:50:49,802 --> 03:50:53,439 TESTED THIS MOLECULE IN CELL AND 4835 03:50:53,506 --> 03:50:55,942 ANIMAL MODELS AND GOT POSITIVE 4836 03:50:56,008 --> 03:51:06,352 RESULTS AROUND 2014. 4837 03:51:07,253 --> 03:51:13,392 WE GOT APPROVAL AND IND IN 2013 4838 03:51:13,459 --> 03:51:15,962 AND STARTED TRIAL IN 2017 AND 4839 03:51:16,028 --> 03:51:19,699 COMPLETED PHASE 2 STUDY IN 2019. 4840 03:51:19,765 --> 03:51:21,000 SO 19 PATIENTS GOT THE 4841 03:51:21,067 --> 03:51:26,539 MEDICATION AND THE STUDY WAS 4842 03:51:26,606 --> 03:51:32,445 SUPPORTED BY ICTS AND NIH ALSO 4843 03:51:32,511 --> 03:51:34,413 PROVIDE FUNDS FOR THE CLINICAL 4844 03:51:34,480 --> 03:51:38,351 TRIAL AND WE GOT DONATIONS FROM 4845 03:51:38,417 --> 03:51:39,485 THE EDDIE WHITE AND SNOW 4846 03:51:39,552 --> 03:51:40,086 FOUNDATION AND OTHER PRIVATE 4847 03:51:40,152 --> 03:51:46,826 DONORS. 4848 03:51:46,892 --> 03:51:48,928 WE PUBLISHED THE DATA FOR THIS 4849 03:51:48,995 --> 03:51:50,830 TRIAL IN 2020 AND THIS IS WHAT 4850 03:51:50,896 --> 03:51:53,899 WE LEARNED. 4851 03:51:53,966 --> 03:51:56,836 WE IDENTIFIED THE SAFE DOSE OF 4852 03:51:56,902 --> 03:51:58,904 DANTROLENE SODIUM IN PATIENT 4853 03:51:58,971 --> 03:52:02,842 WITH WOLFRAM. 4854 03:52:02,908 --> 03:52:07,213 4 OF 19 PATIENTS SAW IMPROVEMENT 4855 03:52:07,280 --> 03:52:09,682 AND PATIENTS AND THE GREATEST 4856 03:52:09,749 --> 03:52:14,053 IMPROVED HAD IMPROVED VISUAL 4857 03:52:14,120 --> 03:52:15,254 ACUITY AND LESS DISEASE. 4858 03:52:15,321 --> 03:52:19,792 THE MOST COMMON SIDE EFFECTS ARE 4859 03:52:19,859 --> 03:52:22,795 FATIGUE AND DIARRHEA WE GOT 4860 03:52:22,862 --> 03:52:24,730 POSITIVE RESULTS IN ONLY FOUR OR 4861 03:52:24,797 --> 03:52:25,331 FIVE PATIENTS. 4862 03:52:25,398 --> 03:52:30,903 WE SHIFTED OUR ATTENTION TO A 4863 03:52:30,970 --> 03:52:33,572 NEW DRUGS. 4864 03:52:33,639 --> 03:52:37,443 A DRUG REPURPOSING TRIAL IS 4865 03:52:37,510 --> 03:52:39,312 GREAT AS WAS SHOWN IN THE 4866 03:52:39,378 --> 03:52:39,545 MORNING. 4867 03:52:39,612 --> 03:52:42,815 WE ALSO SHIFTED OUR ATTENTION TO 4868 03:52:42,882 --> 03:52:45,217 NOVEL DRUGS AN STARTED A 4869 03:52:45,284 --> 03:52:49,288 COLLABORATION WITH THE BIO TECH 4870 03:52:49,355 --> 03:52:51,257 COMPANY IN CAMBRIDGE, 4871 03:52:51,324 --> 03:52:51,590 MASSACHUSETTS. 4872 03:52:51,657 --> 03:52:56,862 THEIR MEDICATION AMK WAS A 4873 03:52:56,929 --> 03:52:57,630 COMBINATION. 4874 03:52:57,697 --> 03:53:02,335 BOTH MOLECULE WERE KNOWN TO 4875 03:53:02,401 --> 03:53:08,841 REDUCE ENDOPLASMIC RETICULUM 4876 03:53:08,908 --> 03:53:09,075 STRESS. 4877 03:53:09,141 --> 03:53:12,945 OUR COLLABORATION WAS 4878 03:53:13,012 --> 03:53:14,847 FACILITATED WITH A PATIENT WITH 4879 03:53:14,914 --> 03:53:23,222 A DOCTOR WHOSE CHILD HAD 4880 03:53:23,289 --> 03:53:23,456 WOLFRAM. 4881 03:53:23,522 --> 03:53:27,793 A 4882 03:53:27,860 --> 03:53:31,464 AND WE STARTED COLLABORATION IN 4883 03:53:31,530 --> 03:53:40,072 2017. 4884 03:53:40,139 --> 03:53:42,308 AND THE DRUG WAS APPROVED AND 4885 03:53:42,375 --> 03:53:47,446 PUBLISHED DATA USING ANIMALS AND 4886 03:53:47,513 --> 03:53:52,084 CELLS IN 2022 AND STARTED A 4887 03:53:52,151 --> 03:53:56,655 CLINICAL TRIAL UP ADULT PATIENTS 4888 03:53:56,722 --> 03:53:58,657 WITH WOLFRAM SYNDROME AND WE 4889 03:53:58,724 --> 03:54:01,994 COMPLETED THE ENROLLMENT PROCESS 4890 03:54:02,061 --> 03:54:04,029 AND PLAN TO REPORT THE 4891 03:54:04,096 --> 03:54:05,831 PRELIMINARY DATA LATER THIS 4892 03:54:05,898 --> 03:54:06,532 YEAR. 4893 03:54:06,599 --> 03:54:10,336 OUR OUTCOMES MEASURES ARE 4894 03:54:10,403 --> 03:54:13,939 DIABETES RELATED AND THE BRAIN 4895 03:54:14,006 --> 03:54:15,474 OUTCOME MEASURES. 4896 03:54:15,541 --> 03:54:23,182 HERE'S OUR CLINICAL TRIAL TEAM. 4897 03:54:23,249 --> 03:54:25,918 WE ARE ALSO TESTING A DIFFERENT 4898 03:54:25,985 --> 03:54:26,685 MOLECULE AS A POTENTIAL 4899 03:54:26,752 --> 03:54:29,021 TREATMENT FOR WOLFRAM AND THIS 4900 03:54:29,088 --> 03:54:31,157 PRECLINICAL STUDY IS SUPPORTED 4901 03:54:31,223 --> 03:54:35,728 BY THREE DIFFERENT PATIENT 4902 03:54:35,795 --> 03:54:37,963 ORGANIZATIONS EDDIE WHITE 4903 03:54:38,030 --> 03:54:39,465 FOUNDATION, SNOW FOUNDATION AND 4904 03:54:39,532 --> 03:54:41,300 WOLFRAM SYNDROME AND THEY 4905 03:54:41,367 --> 03:54:43,002 PROVIDED SOME FUNDS AND 4906 03:54:43,068 --> 03:54:43,402 MEDICATION. 4907 03:54:43,469 --> 03:54:46,539 BECAUSE WOLFRAM IS A GENETIC 4908 03:54:46,605 --> 03:54:50,342 DISORDER, THE BEST BEST WAY TO 4909 03:54:50,409 --> 03:54:52,812 TREAT THIS DISORDER COULD BE 4910 03:54:52,878 --> 03:54:55,047 GENE EDITING. 4911 03:54:55,114 --> 03:54:58,217 WE HAVE BEEN WORKING ON THE GENE 4912 03:54:58,284 --> 03:54:59,785 EDITING PROJECT FOR WOLFRAM 4913 03:54:59,852 --> 03:55:01,654 SYNDROME AND WE COLLECTED 4914 03:55:01,720 --> 03:55:06,125 MUTATION IN IPSCs IN PATIENTS 4915 03:55:06,192 --> 03:55:08,327 WITH WOLFRAM AND COULD CURE 4916 03:55:08,394 --> 03:55:19,004 DIABETES RELATED PHENO D CASE 4917 03:55:19,071 --> 03:55:20,306 HAVE BEEN TRYING TO CURE THIS 4918 03:55:20,372 --> 03:55:21,974 AND THIS IS A LARGE-SCALE 4919 03:55:22,041 --> 03:55:23,209 COLLABORATION WITH DIFFERENT 4920 03:55:23,275 --> 03:55:23,843 TEAMS IN THE UNITED STATES AND 4921 03:55:23,909 --> 03:55:30,549 EUROPE. 4922 03:55:30,616 --> 03:55:32,852 WE ARE ALSO TESTING TO TREAT 4923 03:55:32,918 --> 03:55:35,788 BRAIN ATROPHY IN THE SYNDROME 4924 03:55:35,855 --> 03:55:39,058 AND REGENERATE GANGLION CELLS 4925 03:55:39,124 --> 03:55:44,497 USING A NEUROTROPIC FACTOR 4926 03:55:44,563 --> 03:55:48,100 CALLED MANF ALSO A COLLABORATION 4927 03:55:48,167 --> 03:55:49,602 WITH A THERAPEUTIC COMPANY. 4928 03:55:49,668 --> 03:55:53,639 THIS IS OUR TREATMENT PIPELINE 4929 03:55:53,706 --> 03:55:58,410 AND AND BEFORE I END I WANT TO 4930 03:55:58,477 --> 03:56:00,613 EMPHASIZE THE SIGNIFICANCE OF 4931 03:56:00,679 --> 03:56:03,215 WORKING WITH PATIENT FOUNDATIONS 4932 03:56:03,282 --> 03:56:04,383 BECAUSE THEY HELP RAISE 4933 03:56:04,450 --> 03:56:07,052 AWARENESS OF THE DISEASE AND 4934 03:56:07,119 --> 03:56:08,521 FACILITATE COLLABORATION BETWEEN 4935 03:56:08,587 --> 03:56:10,990 ACADEMIC RESEARCHERS AND THE 4936 03:56:11,056 --> 03:56:14,293 INDUSTRY AND RESEARCHERS IN 4937 03:56:14,360 --> 03:56:15,594 DIFFERENT INSTITUTIONS. 4938 03:56:15,661 --> 03:56:17,930 SO PATIENT ORGANIZATIONS, 4939 03:56:17,997 --> 03:56:23,335 WOLFRAM SYNDROME U.K. AND SNOW 4940 03:56:23,402 --> 03:56:26,005 FOUNDATION AND WOLFRAM FRANCE 4941 03:56:26,071 --> 03:56:27,540 COORDINATE MEETINGS FOR 4942 03:56:27,606 --> 03:56:29,875 SCIENTISTS WORK ON THE SYNDROME 4943 03:56:29,942 --> 03:56:31,243 AND WE GET TOGETHER EVERY YEAR 4944 03:56:31,310 --> 03:56:34,647 OR TWO YEARS AND WE EXCHANGE 4945 03:56:34,713 --> 03:56:35,047 INFORMATION. 4946 03:56:35,114 --> 03:56:36,048 WE ALSO INVITE PATIENT 4947 03:56:36,115 --> 03:56:37,449 ORGANIZATIONS AND THE PATIENTS 4948 03:56:37,516 --> 03:56:39,885 TO OUR LAB SO THAT OUR LAB 4949 03:56:39,952 --> 03:56:41,787 MEMBERS CAN LEARN ABOUT THE 4950 03:56:41,854 --> 03:56:49,828 CHALLENGES OF OUR PATIENTS. 4951 03:56:49,895 --> 03:56:52,031 THIS IS MY LAST SLIDE SO WE 4952 03:56:52,097 --> 03:56:53,599 NEED TO IMPROVE CLINICAL CARE 4953 03:56:53,666 --> 03:56:55,868 AND NEED TO RAISE AWARENESS AND 4954 03:56:55,935 --> 03:57:00,372 ACHIEVE A CURE WE NEED A NEW 4955 03:57:00,439 --> 03:57:01,974 TREATMENT AND FOR NEW TREATMENTS 4956 03:57:02,041 --> 03:57:04,643 WE NEED BASICALLY MONEY TO DO 4957 03:57:04,710 --> 03:57:07,479 THIS SO NIH HAS PROVIDED A 4958 03:57:07,546 --> 03:57:08,714 SIGNIFICANT AMOUNT OF FUNDS FOR 4959 03:57:08,781 --> 03:57:10,916 OUR RESEARCH AND ALSO DONATIONS 4960 03:57:10,983 --> 03:57:14,486 PLAY AN IMPORTANT ROLE FOR US TO 4961 03:57:14,553 --> 03:57:16,755 DEVELOP NEW TREATMENTS SO RACHEL 4962 03:57:16,822 --> 03:57:18,991 HARTMAN AT WASHINGTON UNIVERSITY 4963 03:57:19,058 --> 03:57:19,725 HAS BEEN DOING A FANTASTIC JOB 4964 03:57:19,792 --> 03:57:26,265 FOR THIS ROLE. 4965 03:57:26,332 --> 03:57:27,499 I'D LIKE TO THANK MY TEAM 4966 03:57:27,566 --> 03:57:29,602 MEMBERS AND FORMER MENTORS AND 4967 03:57:29,668 --> 03:57:33,072 MY FAMILY AND I'D LIKE TO THANK 4968 03:57:33,138 --> 03:57:33,939 MY MOM. 4969 03:57:34,006 --> 03:57:35,908 I'D LIKE TO DEDICATE MY TALK TO 4970 03:57:35,975 --> 03:57:38,811 MY MOM WHO PASSED AWAY LAST 4971 03:57:38,877 --> 03:57:39,011 WEEK. 4972 03:57:39,078 --> 03:57:42,648 AND SHE WAS A FANTASTIC 4973 03:57:42,715 --> 03:57:44,617 PEDIATRICIAN AND FAMILY DOCTOR 4974 03:57:44,683 --> 03:57:47,319 AND WAS AN INCREDIBLY DEDICATED 4975 03:57:47,386 --> 03:57:50,189 DOCTOR AND SHE ACTUALLY WAS THE 4976 03:57:50,255 --> 03:57:53,592 FIRST JAPANESE DOCTOR WHO 4977 03:57:53,659 --> 03:58:01,600 REPORTED A CASE OF CREDOSHAW 4978 03:58:01,667 --> 03:58:03,602 SYNDROME IN 1965 BEFORE I WAS 4979 03:58:03,669 --> 03:58:07,640 BORN. 4980 03:58:07,706 --> 03:58:07,973 TH 4981 03:58:08,040 --> 03:58:08,574 THIS IS THE END OF MY TALK. 4982 03:58:08,641 --> 03:58:18,817 THANK YOU. 4983 03:58:48,981 --> 03:58:51,216 >> ALL RIGHT, NEXT UP I'D LIKE 4984 03:58:51,283 --> 03:59:01,727 TO INTRODUCE DR. MEREDITH 4985 03:59:04,697 --> 03:59:09,535 SCHULTZ THE SENIOR VICE 4986 03:59:09,601 --> 03:59:11,203 PRESIDENT OF CLINICAL 4987 03:59:11,270 --> 03:59:13,939 DEVELOPMENT AT THE MEDICAL 4988 03:59:14,006 --> 03:59:17,209 AFFAIRS TAYSHA GENE THERAPIES. 4989 03:59:17,276 --> 03:59:19,578 >> IT'S GREAT TO SEE THE STORIES 4990 03:59:19,645 --> 03:59:20,579 WE'RE SEEING IN RARE DISEASE AND 4991 03:59:20,646 --> 03:59:21,980 IT'S ONE OF MY PASSIONS. 4992 03:59:22,047 --> 03:59:29,188 IT'S A PLEASURE TO BE HERE 4993 03:59:29,254 --> 03:59:29,788 TODAY. 4994 03:59:29,855 --> 03:59:37,329 I WORK FOR TAYSHA GENE THERAPY 4995 03:59:37,396 --> 03:59:40,632 FOR RETT SYNDROME AND IT'S A 4996 03:59:40,699 --> 03:59:42,267 RARE DISORDER THAT PRESENTS 4997 03:59:42,334 --> 03:59:51,610 TYPICALLY IN YOUNG GIRLS AND 4998 03:59:51,677 --> 03:59:52,177 AVENL 4999 03:59:52,244 --> 03:59:53,112 AFFECTS THE ABILITY TO USE THEIR 5000 03:59:53,178 --> 03:59:56,815 HANDS, WALK, INTERACT WITH THE 5001 03:59:56,882 --> 03:59:57,082 WORLD. 5002 03:59:57,149 --> 03:59:59,051 LOTS OF UNMET NEEDS REMAINS. 5003 03:59:59,118 --> 04:00:01,653 WE HAVE ONE APPROVED THERAPY FOR 5004 04:00:01,720 --> 04:00:05,357 RETT SYNDROME BUT HAVE A LONG 5005 04:00:05,424 --> 04:00:05,624 TWRIE GO. 5006 04:00:05,691 --> 04:00:06,291 IT'S MY PLEASURE TO SPEAK TO YOU 5007 04:00:06,358 --> 04:00:08,026 TODAY ABOUT GENE THERAPY 5008 04:00:08,093 --> 04:00:09,461 DEVELOPMENT FROM THE PERSPECTIVE 5009 04:00:09,528 --> 04:00:11,930 OF INDUSTRY. 5010 04:00:11,997 --> 04:00:13,465 PAST, PRESENT AND FUTURE. 5011 04:00:13,532 --> 04:00:15,801 WE'LL FOCUS A LITTLE BIT TODAY 5012 04:00:15,868 --> 04:00:19,471 ON WHAT DECISIONS COMPANIES MAKE 5013 04:00:19,538 --> 04:00:26,478 INTO AND CONSIDER WHAT COMES 5014 04:00:26,545 --> 04:00:27,679 INTO THEIR PIPELINE AND THINK 5015 04:00:27,746 --> 04:00:29,548 ABOUT DEVELOPING. 5016 04:00:29,615 --> 04:00:37,990 HERE MY DISCLOSURES. 5017 04:00:38,056 --> 04:00:39,458 I HAVE A SPECIFIC PASSION FOR 5018 04:00:39,525 --> 04:00:43,295 GENE THERAPY AND UNIQUE 5019 04:00:43,362 --> 04:00:43,595 PERSPECTIVE. 5020 04:00:43,662 --> 04:00:46,632 I'VE SAT ON SEVERAL SIDES OF THE 5021 04:00:46,698 --> 04:00:47,032 TABLE. 5022 04:00:47,099 --> 04:00:48,400 MY FIRST EXPERIENCE WAS A 5023 04:00:48,467 --> 04:00:49,635 PEDIATRIC NEUROLOGIST AT THE 5024 04:00:49,701 --> 04:00:51,336 UNIVERSITY OF WISCONSIN WHEN I 5025 04:00:51,403 --> 04:00:54,173 HAD THE PRIVILEGE OF DOSING A 5026 04:00:54,239 --> 04:00:56,942 NUMBER OF PATIENTS WITH GENE 5027 04:00:57,009 --> 04:01:00,279 THERAPY AS PART OF A FOR A 5028 04:01:00,345 --> 04:01:03,482 DISORDER CALLED SPINAL MUSCULAR 5029 04:01:03,549 --> 04:01:07,419 ATROPHY OR SMA. 5030 04:01:07,486 --> 04:01:09,421 IT'S A RARE NEURO DEGENERATIVE 5031 04:01:09,488 --> 04:01:10,823 DISEASE THAT PRESENTS IN THE 5032 04:01:10,889 --> 04:01:13,525 FIRST SIX OF LIFE WITH WEAKNESS. 5033 04:01:13,592 --> 04:01:18,163 IT SUBSEQUENTLY PROGRESSES TO 5034 04:01:18,230 --> 04:01:19,698 WHERE PATIENTS HAVE LOST THE 5035 04:01:19,765 --> 04:01:20,933 ABILITY TO REALLY MOVE JUST 5036 04:01:20,999 --> 04:01:21,934 ABOUT AT ALL. 5037 04:01:22,000 --> 04:01:23,202 THEY LOSE THE ABILITY TO BREATHE 5038 04:01:23,268 --> 04:01:23,769 ON THEIR OWN. 5039 04:01:23,836 --> 04:01:32,578 THEY LOSE THE ABILITY TO EAT. 5040 04:01:32,644 --> 04:01:34,179 IT WAS THE EXPERIENCE OF DOSING 5041 04:01:34,246 --> 04:01:35,848 THEM AND SEEING THE 5042 04:01:35,914 --> 04:01:36,682 TRANSFORMATIVE EFFECT OF THE 5043 04:01:36,748 --> 04:01:39,084 GENE THERAPY THAT MADE ME LEAVE 5044 04:01:39,151 --> 04:01:40,919 MY PRACTICE AN JOIN INDUSTRY 5045 04:01:40,986 --> 04:01:43,088 WITH THE GOAL TO BRING MORE OF 5046 04:01:43,155 --> 04:01:44,489 THESE THERAPIES TO DISORDERS AND 5047 04:01:44,556 --> 04:01:45,324 PATIENTS THAT SO DESPERATELY 5048 04:01:45,390 --> 04:01:46,792 NEED THEM. 5049 04:01:46,859 --> 04:01:49,361 AND I THINK WE'RE REALLY AT THE 5050 04:01:49,428 --> 04:01:50,529 FOREFRONT OF WHAT GENE THERAPY 5051 04:01:50,596 --> 04:01:52,698 CAN POTENTIALLY DO FOR NOT ONLY 5052 04:01:52,764 --> 04:01:54,233 RARE DISEASE BUT FOR ALL 5053 04:01:54,299 --> 04:01:54,499 DISEASES. 5054 04:01:54,566 --> 04:01:58,437 AND SO WE'RE JUST AT THE 5055 04:01:58,503 --> 04:01:58,937 ICEBERG. 5056 04:01:59,004 --> 04:02:00,272 WE'RE CONTINUING TO WORK TOWARDS 5057 04:02:00,339 --> 04:02:01,573 THAT. 5058 04:02:01,640 --> 04:02:06,578 I'VE ALSO SMALL BIO TECH AND 5059 04:02:06,645 --> 04:02:07,980 LARGE PHARMA COMPANIES AS WELL 5060 04:02:08,046 --> 04:02:10,082 TRYING TO ADVOCATE FOR GENE 5061 04:02:10,148 --> 04:02:10,315 THERAPY. 5062 04:02:10,382 --> 04:02:12,017 I'VE ALSO BEEN A SUPPORTER OF 5063 04:02:12,084 --> 04:02:14,052 NEWBORN SCREENING AND WAS ABLE 5064 04:02:14,119 --> 04:02:16,555 TO GET SPINAL MUSCULAR ATROPHY 5065 04:02:16,622 --> 04:02:18,557 ADDED TO THE WISCONSIN SCREENING 5066 04:02:18,624 --> 04:02:19,791 BEFORE I LEFT FOR INDUSTRY SO 5067 04:02:19,858 --> 04:02:30,335 I'M QUITE HAPPY ABOUT THAT. 5068 04:02:32,037 --> 04:02:34,273 SINCE JOINING INDUSTRY I LEARNED 5069 04:02:34,339 --> 04:02:34,806 A LOT OF. 5070 04:02:34,873 --> 04:02:36,975 I THOUGHT WE HAVE DONE THIS ONCE 5071 04:02:37,042 --> 04:02:38,944 AND KNOW HOW TO DO IT AND KNOW 5072 04:02:39,011 --> 04:02:41,580 THE GENETIC TARGET. 5073 04:02:41,647 --> 04:02:43,415 LET'S MAKE A BUNCH OF GENE 5074 04:02:43,482 --> 04:02:45,417 THERAPIES AND CRANK OUT AND GET 5075 04:02:45,484 --> 04:02:47,653 THEM APPROVED. 5076 04:02:47,719 --> 04:02:51,123 WHAT WE'RE LEARNING IS DESPITE 5077 04:02:51,189 --> 04:02:52,424 KNOWING WHAT THE GENETIC 5078 04:02:52,491 --> 04:02:53,892 MUTATION IS IT'S HARD TO GET THE 5079 04:02:53,959 --> 04:02:55,394 PROGRAMS INTO THE CLINIC AND 5080 04:02:55,460 --> 04:02:57,596 IT'S EVEN HARDER TO GET THEM 5081 04:02:57,663 --> 04:03:02,200 INTO THE CLINIC AND SHOW 5082 04:03:02,267 --> 04:03:02,734 BENEFIT. 5083 04:03:02,801 --> 04:03:04,503 SO WE'LL TALK ABOUT WHAT 5084 04:03:04,569 --> 04:03:07,105 DECISIONS COMPANIES HAVE TO FACE 5085 04:03:07,172 --> 04:03:08,640 ABOUT WHAT PROGRAMS TO TAKE ON 5086 04:03:08,707 --> 04:03:09,875 IN THEIR PIPELINE. 5087 04:03:09,942 --> 04:03:15,013 HOW MANY PROGRAMS DO THEY WANT 5088 04:03:15,080 --> 04:03:16,715 TO RUN AT ONCE. 5089 04:03:16,782 --> 04:03:18,884 WE'LL TALK ABOUT THE CHALLENGES 5090 04:03:18,951 --> 04:03:20,819 OF GENE THERAPY DEVELOPMENT AN 5091 04:03:20,886 --> 04:03:23,855 WITH US HAVING SUCH A RAPIDLY 5092 04:03:23,922 --> 04:03:26,892 CHANGING LANDSCAPE AND WITH THE 5093 04:03:26,959 --> 04:03:31,730 RAPID GROWTH IN LEARNING IN GENE 5094 04:03:31,797 --> 04:03:34,132 THERAPY IT'S HARD TO KEEP UP AND 5095 04:03:34,199 --> 04:03:36,601 REFLECTED IN THE INDUSTRY 5096 04:03:36,668 --> 04:03:37,536 ENVIRONMENT AS WELL. 5097 04:03:37,602 --> 04:03:39,171 IT'S FAIRLY RESOURCIVE INTENSIVE 5098 04:03:39,237 --> 04:03:40,539 TO DEVELOP GENE THERAPY AND WE 5099 04:03:40,605 --> 04:03:43,608 NEED TO GET BETTER AT IT AND 5100 04:03:43,675 --> 04:03:45,477 MORE EFFICIENT. 5101 04:03:45,544 --> 04:03:47,112 I WANT TO SHARE ONE PATIENT'S 5102 04:03:47,179 --> 04:03:49,548 STORY WITH YOU. 5103 04:03:49,614 --> 04:03:51,249 THIS IS THE MEDINA FAMILY. 5104 04:03:51,316 --> 04:03:54,686 THIS IS AMY ANDED AN. 5105 04:03:54,753 --> 04:03:56,922 AND AIDAN AND THEY HAVE THREE 5106 04:03:56,989 --> 04:04:00,292 DIFFERENT ALL AFFECTED BY SPINAL 5107 04:04:00,359 --> 04:04:01,994 MUSCULAR ATROPHY. 5108 04:04:02,060 --> 04:04:12,571 THE OLDEST, MATO DEVELOPED WE 5109 04:04:13,472 --> 04:04:15,474 CANNESS AND WHEN HE WAS BORN 5110 04:04:15,540 --> 04:04:16,808 THERE WERE NO TREATMENTS 5111 04:04:16,875 --> 04:04:18,276 AVAILABLE FOR HIM. 5112 04:04:18,343 --> 04:04:20,379 HE SUBSEQUENTLY PROGRESSED TO 5113 04:04:20,445 --> 04:04:24,349 NEEDING A BREATHING TUBE BEFORE 5114 04:04:24,416 --> 04:04:26,852 AGE 1 AND HAS A TUBE WHERE HE'S 5115 04:04:26,918 --> 04:04:29,087 FED THROUGH HIS STOMACH AND NOW 5116 04:04:29,154 --> 04:04:31,490 CANNOT MOVE ANY ARMS AN LEGS AND 5117 04:04:31,556 --> 04:04:32,958 COMMUNICATES PRIMARILY WITH EYE 5118 04:04:33,025 --> 04:04:40,565 MOVEMENT. 5119 04:04:40,632 --> 04:04:44,403 HIS YOUNGER BROTHER, JAVI AT A 5120 04:04:44,469 --> 04:04:46,204 GRAND ROUNDS AT WISCONSIN WHEN 5121 04:04:46,271 --> 04:04:47,472 WE WERE TRYING TO GET UNIVERSITY 5122 04:04:47,539 --> 04:04:51,476 OF WISCONSIN ON BOARD TO TREAT 5123 04:04:51,543 --> 04:04:58,417 OUR PATIENTS WITH SINZASA AND 5124 04:04:58,483 --> 04:05:01,720 IT'S GIVEN VIA SPINAL TAP. 5125 04:05:01,787 --> 04:05:04,189 AND HE WAS LUXE ENOUGH TO BE 5126 04:05:04,256 --> 04:05:07,459 TREATED WITHIN THE FIRST FEW 5127 04:05:07,526 --> 04:05:12,998 WEEKS OF LIFE. 5128 04:05:13,065 --> 04:05:14,833 HE LOOKS QUITE BRIGHT AND 5129 04:05:14,900 --> 04:05:17,135 SITTING UPRIGHT AND DOING WELL, 5130 04:05:17,202 --> 04:05:19,004 ACTUALLY, MUCH BETTER THAN HIS 5131 04:05:19,071 --> 04:05:19,938 OLDER BROTHER. 5132 04:05:20,005 --> 04:05:30,482 THIS IS EME EMELIA AND WE TREAT 5133 04:05:30,549 --> 04:05:32,050 HER WITH A GONE THERAPY WITHIN 5134 04:05:32,117 --> 04:05:34,553 THE FIRST TWO WEEKS OF LIFE. 5135 04:05:34,619 --> 04:05:37,189 SHE WAS ASYMPTOMATIC BY THE TIME 5136 04:05:37,255 --> 04:05:38,457 WE STARTED TREATMENT FOR HER AND 5137 04:05:38,523 --> 04:05:45,363 AT THE TIME WAS THE YOUNGEST 5138 04:05:45,430 --> 04:05:46,465 INFANT IF THE WORLD TO RECEIVE 5139 04:05:46,531 --> 04:05:48,934 GENE THERAPIES AND IT WAS 5140 04:05:49,000 --> 04:05:50,268 NERVE-RACKING BUT SHE DID 5141 04:05:50,335 --> 04:05:52,571 BEAUTIFULLY AND SLEPT THROUGH 5142 04:05:52,637 --> 04:05:56,074 THE WHOLE INJECTION I SAT AT HER 5143 04:05:56,141 --> 04:05:57,509 BEDSIDE FOR FOUR HOURS WAITING 5144 04:05:57,576 --> 04:06:00,679 FOR SOMETHING TO HAPPEN AND 5145 04:06:00,745 --> 04:06:03,482 NOTHING HAPPENED AND I'LL SHARE 5146 04:06:03,548 --> 04:06:04,216 IN A LITTLE BIT HOW SHE'S DOING 5147 04:06:04,282 --> 04:06:04,516 TODAY. 5148 04:06:04,583 --> 04:06:07,119 TO GIVE BACKGROUND, SO WHAT IS 5149 04:06:07,185 --> 04:06:08,787 GENE THERAPY? 5150 04:06:08,854 --> 04:06:11,890 THE DEFINITION IS QUITE BROAD. 5151 04:06:11,957 --> 04:06:14,993 THE DEFINITION IS THE DELIVERY 5152 04:06:15,060 --> 04:06:19,631 OF GENETIC MATERIALS INTO CELLS 5153 04:06:19,698 --> 04:06:26,471 TO TREAT DISEASE. 5154 04:06:26,538 --> 04:06:28,807 YOU CAN INTERPRET THAT IN A 5155 04:06:28,874 --> 04:06:29,841 NUMBER OF WAYS BUT OFTEN WE'RE 5156 04:06:29,908 --> 04:06:32,577 TRYING TO REPLACE OR ALTER A 5157 04:06:32,644 --> 04:06:34,212 GONE THAT IS EITHER MISSING OR 5158 04:06:34,279 --> 04:06:36,081 ALTERED IN THE BODY. 5159 04:06:36,148 --> 04:06:38,683 SO ONE OF THE MOST COMMON FORMS 5160 04:06:38,750 --> 04:06:41,153 OF GENE IT THERAPY IS GENE 5161 04:06:41,219 --> 04:06:42,521 REPLACEMENT THERAPY WHERE YOU 5162 04:06:42,587 --> 04:06:44,923 HAVE A GENE THAT'S MISSING OR 5163 04:06:44,990 --> 04:06:48,160 ALTERED OR DELETED AND YOU'RE 5164 04:06:48,226 --> 04:06:50,395 PUTTING THAT GENE BACK IN TO TRY 5165 04:06:50,462 --> 04:06:52,297 TO GIVE THE BODY A HEALTHY COP 5166 04:06:52,364 --> 04:06:53,732 OF THE GENE TO HAVE THE PROTEINS 5167 04:06:53,798 --> 04:06:55,500 IT NEEDS TO DO THE FUNCTIONS IN 5168 04:06:55,567 --> 04:06:56,701 THE BODY. 5169 04:06:56,768 --> 04:06:59,804 THERE'S ALSO A NUMBER OF OTHER 5170 04:06:59,871 --> 04:07:00,839 METHODS OF GENE THERAPY WHERE 5171 04:07:00,906 --> 04:07:03,808 YOU CAN TRY AND KNOCK DOWN GENES 5172 04:07:03,875 --> 04:07:05,644 THAT ARE TOXIC. 5173 04:07:05,710 --> 04:07:07,646 WHERE YOU CAN -- YOU HEARD A LOT 5174 04:07:07,712 --> 04:07:09,614 ABOUT GENE EDITING AND WE'LL SEE 5175 04:07:09,681 --> 04:07:15,854 MORE AND MORE COME FROM THE GENE 5176 04:07:15,921 --> 04:07:19,357 EDITING SPACE AND THE TYPICAL 5177 04:07:19,424 --> 04:07:21,593 THEME IS BECAUSE DNA WE'RE NOT 5178 04:07:21,660 --> 04:07:24,696 ABLE TO EFFICIENTLY GET DNA INTO 5179 04:07:24,763 --> 04:07:25,297 CELLS. 5180 04:07:25,363 --> 04:07:26,464 YOU HAVE TO USE SOME SHORT OF 5181 04:07:26,531 --> 04:07:28,500 DELIVERY MECHANISM FOR THAT. 5182 04:07:28,567 --> 04:07:30,569 ONE OF THE MORE COMMON DELIVERY 5183 04:07:30,635 --> 04:07:33,471 MECHANISMS IS TO USE A VIRUS TO 5184 04:07:33,538 --> 04:07:36,441 MANUFACTURE THE PIECE OF DNA 5185 04:07:36,508 --> 04:07:38,310 INSIDE THE VIRUS AND THE VIRUS 5186 04:07:38,376 --> 04:07:44,849 GOES THROUGHOUT THE BODY AND 5187 04:07:44,916 --> 04:07:45,483 INSERTS THE DNA OF INTEREST IN 5188 04:07:45,550 --> 04:07:46,918 THE CELL AND THE CELL IS ABLE TO 5189 04:07:46,985 --> 04:07:49,287 USE ITS OWN MACHINERY TO 5190 04:07:49,354 --> 04:07:50,655 MANUFACTURE THE PROTEINS IT 5191 04:07:50,722 --> 04:07:52,891 NEEDS FROM THE PIECE OF DNA YOU 5192 04:07:52,958 --> 04:07:53,158 DELIVERED. 5193 04:07:53,225 --> 04:07:56,361 WITH MANY GENE THERAPIES WE'RE 5194 04:07:56,428 --> 04:07:57,963 INFUSING MANY COPIES OF VIRUS 5195 04:07:58,029 --> 04:08:00,098 INTO THE BODY WHICH CAN COME 5196 04:08:00,165 --> 04:08:04,903 WITH ITS OWN COMPLICATIONS. 5197 04:08:04,970 --> 04:08:07,472 THERE ARE I THINK GOING TO BE 5198 04:08:07,539 --> 04:08:09,341 MANY PERMUTATIONS YOU'LL SEE 5199 04:08:09,407 --> 04:08:10,342 COMING OUT IN THE FUTURE. 5200 04:08:10,408 --> 04:08:12,077 SO YOU'RE SEEING SOME OF THESE 5201 04:08:12,143 --> 04:08:14,346 ALREADY IN CLINICAL TRIALS WHERE 5202 04:08:14,412 --> 04:08:17,682 YOU HAVE GENE DLAPY BEING GIVEN 5203 04:08:17,749 --> 04:08:18,350 IN A COUPLE PLACES IN THE BODY. 5204 04:08:18,416 --> 04:08:20,118 IT'S BEING DELIVERED INTO THE 5205 04:08:20,185 --> 04:08:20,785 EYE AND DELIVERED INTO THE 5206 04:08:20,852 --> 04:08:23,855 SPINAL FLUID AT THE SAME TIME. 5207 04:08:23,922 --> 04:08:25,690 YOU HAVE SOME GENE THERAPIES 5208 04:08:25,757 --> 04:08:28,827 BEING DELIVERED TO THE HEART, 5209 04:08:28,893 --> 04:08:33,231 INTRAVENOUS IN THE BRAIN. 5210 04:08:33,298 --> 04:08:34,666 MANY DIFFERENT RESEARCHERS ARE 5211 04:08:34,733 --> 04:08:36,067 WORKING ON EVERYTHING YOU CAN 5212 04:08:36,134 --> 04:08:38,470 THINK OF AND I'M EXCITED TO SEE 5213 04:08:38,536 --> 04:08:39,070 WHAT KOMENTZ OUT IN THE NEXT 5214 04:08:39,137 --> 04:08:49,414 COUPLE OF YEARS. 5215 04:09:15,407 --> 04:09:16,241 TYPICALLY GENE THERAPIES ARE 5216 04:09:16,308 --> 04:09:18,610 DESIGN TO BE A SINGLE TIME 5217 04:09:18,677 --> 04:09:20,445 LIMITED TIME ADMINISTRATION. 5218 04:09:20,512 --> 04:09:22,881 ESPECIALLY IN SYSTEMS LIKE THE 5219 04:09:22,947 --> 04:09:25,984 BRAIN WHERE YOUR NOT HAVING A 5220 04:09:26,051 --> 04:09:28,553 LOT OF CELL TURNOVER, THE 5221 04:09:28,620 --> 04:09:29,821 THERAPIES ARE DESIGNED WHERE YOU 5222 04:09:29,888 --> 04:09:31,289 DELIVER IT ONCE AND THE THERAPY 5223 04:09:31,356 --> 04:09:31,756 STICKS AROUND. 5224 04:09:31,823 --> 04:09:33,658 IT'S A SINGLE TIME TO 5225 04:09:33,725 --> 04:09:34,859 ADMINISTRATION AND IDEALLY 5226 04:09:34,926 --> 04:09:37,062 PRESENT FOR LIFE. 5227 04:09:37,128 --> 04:09:39,331 WE'RE ABOUT SEVEN OR EIGHT YEARS 5228 04:09:39,397 --> 04:09:42,934 OUT FROM WHEN PATIENTS WERE 5229 04:09:43,001 --> 04:09:48,707 FIRST DOSED WITH GENE THERAPY 5230 04:09:48,773 --> 04:09:52,277 AND OVER TIME WE'LL HAVE TO SEE 5231 04:09:52,344 --> 04:09:53,778 HOW LONG ARE THE THERAPIES 5232 04:09:53,845 --> 04:09:55,447 STICKING AROUND FOR. 5233 04:09:55,513 --> 04:09:59,951 WE'RE STARTING TO REALLY HAVE AN 5234 04:10:00,018 --> 04:10:01,553 ESTABLISHED TECHNOLOGY PLATFORM 5235 04:10:01,619 --> 04:10:02,987 WHERE PARTICULARLY FOR SOME OF 5236 04:10:03,054 --> 04:10:04,389 THESE VIRUSES THAT WE'RE USING 5237 04:10:04,456 --> 04:10:06,424 ONE OF THE VIRUSES IN PARTICULAR 5238 04:10:06,491 --> 04:10:08,960 IS CALLED ADENO ASSOCIATED 5239 04:10:09,027 --> 04:10:09,361 VIRUS. 5240 04:10:09,427 --> 04:10:11,296 WE'RE LEARNING A LOT ABOUT THIS 5241 04:10:11,363 --> 04:10:14,399 FAMILY OF VIRUSES SO WE CAN 5242 04:10:14,466 --> 04:10:17,435 START TO DEVELOP MULTIPLE 5243 04:10:17,502 --> 04:10:19,003 THERAPIES USING THIS VIRUS AND 5244 04:10:19,070 --> 04:10:20,271 VIT BE AN ESTABLISHED PLATFORM 5245 04:10:20,338 --> 04:10:24,309 WE CAN APPLY TO A NUMBER OTHER 5246 04:10:24,376 --> 04:10:24,676 DISEASES. 5247 04:10:24,743 --> 04:10:25,844 THAT'S HELPFUL AND GOING TO 5248 04:10:25,910 --> 04:10:26,911 MAKE THINGS MORE EFFICIENT AND 5249 04:10:26,978 --> 04:10:28,813 LESS EXPENSIVE. 5250 04:10:28,880 --> 04:10:32,384 SOME OF THE CHALLENGES WITH GENE 5251 04:10:32,450 --> 04:10:32,617 THERAPY. 5252 04:10:32,684 --> 04:10:33,952 MANY OF OPPORTUNITIES ARE ALSO 5253 04:10:34,018 --> 04:10:37,255 CHALLENGES WHEN YOU FLIP THEM 5254 04:10:37,322 --> 04:10:37,756 AROUND. 5255 04:10:37,822 --> 04:10:41,393 RIGHT NOW GENE THERAPY IS QUITE 5256 04:10:41,459 --> 04:10:44,062 RESOURCE INTENSIVE TO DEVELOP. 5257 04:10:44,129 --> 04:10:45,997 SO BECAUSE THERE ARE NOT A LOT 5258 04:10:46,064 --> 04:10:47,499 OF STANDARDIZED PROTOCOLS FOR 5259 04:10:47,565 --> 04:10:50,201 HOW TO DO THIS, EVERY COMPANY IS 5260 04:10:50,268 --> 04:10:52,570 AND EVEN RESEARCHERS ARE DOING 5261 04:10:52,637 --> 04:10:55,039 THIS DIFFERENTLY. 5262 04:10:55,106 --> 04:10:56,808 AND THE REGULATORY ENVIRONMENT 5263 04:10:56,875 --> 04:10:58,309 AND EVEN WHAT WE'RE LEARNING 5264 04:10:58,376 --> 04:11:00,345 COMING OUT OF ACADEMIA AND WHAT 5265 04:11:00,412 --> 04:11:02,514 OTHER COMPANIES ARE DOING, 5266 04:11:02,580 --> 04:11:04,783 THINGS ARE CHANGING TO RAPIDLY, 5267 04:11:04,849 --> 04:11:06,017 COMPANIES ARE NEEDING TO TURN 5268 04:11:06,084 --> 04:11:08,953 AROUND AND PIVOT IN THE MIDDLE 5269 04:11:09,020 --> 04:11:10,321 OF TRIALS. 5270 04:11:10,388 --> 04:11:15,026 IT'S QUITE CHALLENGING TO KEEP 5271 04:11:15,093 --> 04:11:20,899 UP WITH EVERYTHING GOING ON. 5272 04:11:20,965 --> 04:11:25,837 AND THERE ARE CONSIDERATIONS TO 5273 04:11:25,904 --> 04:11:28,440 THINK ABOUT WHEN WE'RE DOSING 5274 04:11:28,506 --> 04:11:28,907 PATIENTS. 5275 04:11:28,973 --> 04:11:30,742 WE HAVE A THERAPY THAT'S A ONE 5276 04:11:30,809 --> 04:11:32,277 TIME DOSE AN POTENTIALLY PRESENT 5277 04:11:32,343 --> 04:11:33,945 FOR LIFE. 5278 04:11:34,012 --> 04:11:37,449 THIS COULD POTENTIALLY RESULT IN 5279 04:11:37,515 --> 04:11:39,017 SAFETY ISSUES AND SO WHEN YOU'RE 5280 04:11:39,083 --> 04:11:41,886 THINKING ABOUT THE BENEFIT RISK 5281 04:11:41,953 --> 04:11:45,123 PROFILE FOR THE PATIENTS WE'VE 5282 04:11:45,190 --> 04:11:47,091 TENDED TO TARGET MORE SEVERE 5283 04:11:47,158 --> 04:11:48,226 DISEASES BUT AS WE LEARN MORE 5284 04:11:48,293 --> 04:11:51,496 ABOUT GENE THERAPY WE'LL BE 5285 04:11:51,563 --> 04:11:55,500 MOVING TO LESS SEVERE DISEASES 5286 04:11:55,567 --> 04:11:57,001 AS WELL. 5287 04:11:57,068 --> 04:11:58,636 THE MANUFACTURING IS SOMEWHAT 5288 04:11:58,703 --> 04:12:00,305 CHALLENGING FOR GENE THERAPY 5289 04:12:00,371 --> 04:12:00,505 ALSO. 5290 04:12:00,572 --> 04:12:03,908 FOR CLINICAL TRIALS IN GENERAL, 5291 04:12:03,975 --> 04:12:04,476 TLIELZ ARE LOOKING AT SMALL 5292 04:12:04,542 --> 04:12:05,410 NUMBERS OF PATIENTS. 5293 04:12:05,477 --> 04:12:07,512 WE'RE TALKING LESS THAN 100 OR 5294 04:12:07,579 --> 04:12:08,546 SO. 5295 04:12:08,613 --> 04:12:10,381 WHEN WE SARTRE THINK OF LARGE 5296 04:12:10,448 --> 04:12:12,584 POPULATIONS, ALZHEIMER'S, PA 5297 04:12:12,650 --> 04:12:16,621 PARKINSON'S DISEASE, CONGESTIVE 5298 04:12:16,688 --> 04:12:19,491 HEART FAILURE WE'LL NEED TO 5299 04:12:19,557 --> 04:12:21,793 MANUFACTURE HUNDREDS OF THOUS 5300 04:12:21,860 --> 04:12:32,103 AND OF DOSES. 5301 04:12:45,083 --> 04:12:48,319 LOOKING AT KINETICS AND 5302 04:12:48,386 --> 04:12:50,355 MOLECULES DOESN'T ALWAYS APPLY 5303 04:12:50,421 --> 04:12:52,056 TO GENE THERAPY AND THAT CAN BE 5304 04:12:52,123 --> 04:12:55,126 A PROBLEM AND TRANSLATING FROM 5305 04:12:55,193 --> 04:12:56,928 ANIMALS TO HUMANS. 5306 04:12:56,995 --> 04:13:03,034 THERE'S NO STANDARD OF CARE YET 5307 04:13:03,101 --> 04:13:06,137 SO IT'S QUITE LABOR INTENSIVE 5308 04:13:06,204 --> 04:13:08,706 JUST TO GO THROUGH THAT AND 5309 04:13:08,773 --> 04:13:10,408 REMEMBERING IF WE HAVE A THERAPY 5310 04:13:10,475 --> 04:13:12,477 STICKING AROUND IN THE BODY 5311 04:13:12,544 --> 04:13:12,810 FOREVER. 5312 04:13:12,877 --> 04:13:14,178 FOR THOSE PATIENTS, IT'S 5313 04:13:14,245 --> 04:13:16,981 POSSIBLE THEY MAY BE EXCLUDED 5314 04:13:17,048 --> 04:13:19,217 FROM OTHER CLINICAL TRIALS 5315 04:13:19,284 --> 04:13:20,084 WHETHER IT'S GENE THERAPY NORT. 5316 04:13:20,151 --> 04:13:22,120 YOU DON'T KNOW WHAT THE GENE IS 5317 04:13:22,186 --> 04:13:23,288 WORKING EVEN IF THE TREATMENT 5318 04:13:23,354 --> 04:13:26,090 DIDN'T WORK YOU MAY BE -- THEY 5319 04:13:26,157 --> 04:13:30,562 MAY BE HAVING THE POTENTIAL TO 5320 04:13:30,628 --> 04:13:33,398 BE EXCLUDED. 5321 04:13:33,464 --> 04:13:35,033 AS FAR AS DOSING GENE THERAPY 5322 04:13:35,099 --> 04:13:36,801 AGAIN, THAT'S SOMETHING THAT HAS 5323 04:13:36,868 --> 04:13:39,070 NOT BEEN DONE IN THE CLINIC AS 5324 04:13:39,137 --> 04:13:45,977 OF YET EITHER. 5325 04:13:46,044 --> 04:13:48,046 THIS MAY SOUND OBVIOUS BUT WHAT 5326 04:13:48,112 --> 04:13:50,648 ARE COMPANIES IN BIO TECH AND 5327 04:13:50,715 --> 04:13:51,683 PHARMA THINKING ABOUT WHEN WE 5328 04:13:51,749 --> 04:13:52,417 THINK WHAT DISORDERS AND 5329 04:13:52,483 --> 04:13:57,155 DISEASES CAN WE TAKE ON? 5330 04:13:57,221 --> 04:13:59,290 ONE OF THE BIGGEST THINGS IS HOW 5331 04:13:59,357 --> 04:14:01,960 WELL DO WE UNDERSTAND THIS 5332 04:14:02,026 --> 04:14:03,227 DISEASE? 5333 04:14:03,294 --> 04:14:04,529 THIS IS TRUE WITH ANY THERAPY 5334 04:14:04,596 --> 04:14:06,331 YOU DEVELOP. 5335 04:14:06,397 --> 04:14:08,633 WE HAVE TO UNDERSTAND WHAT IS 5336 04:14:08,700 --> 04:14:11,402 THE UNDERLYING DISEASE 5337 04:14:11,469 --> 04:14:11,869 PATHOPHYSIOLOGY. 5338 04:14:11,936 --> 04:14:13,838 WHAT CELLS AND TISSUES ARE 5339 04:14:13,905 --> 04:14:14,105 AFFECTED? 5340 04:14:14,172 --> 04:14:15,340 WHAT ARE THE SPECIFIC MUTATIONS 5341 04:14:15,406 --> 04:14:25,683 DO IN THE BODY. 5342 04:14:27,585 --> 04:14:29,220 WHAT CELLS ARE INVOLVED AND HOW 5343 04:14:29,287 --> 04:14:31,089 GOOD OR THE ANIMAL MODELS. 5344 04:14:31,155 --> 04:14:34,025 HOW WELL DO THE ANIMAL MODELS 5345 04:14:34,092 --> 04:14:36,728 REPRESENT HUMAN DISEASES. 5346 04:14:36,794 --> 04:14:38,863 WHAT ARE THE STRENGTHS AND 5347 04:14:38,930 --> 04:14:40,431 LIMITATIONS OF THE ANIMAL 5348 04:14:40,498 --> 04:14:40,665 MODELS. 5349 04:14:40,732 --> 04:14:45,670 WHAT ADMINISTRATION SHOULD WE 5350 04:14:45,737 --> 04:14:51,275 USE? 5351 04:14:51,342 --> 04:14:52,410 DELIVER TO THE BRAIN OR SPINAL 5352 04:14:52,477 --> 04:14:54,979 CORD AND WHAT IS THE NORMAL 5353 04:14:55,046 --> 04:14:56,948 TRAJECTORY OF DISEASE. 5354 04:14:57,015 --> 04:14:58,116 THE NATURAL HISTORY STUDIES 5355 04:14:58,182 --> 04:14:59,450 EVERYBODY HARPS ON AND THEY'RE 5356 04:14:59,517 --> 04:15:05,023 NOT ALWAYS THE STUDIES THAT 5357 04:15:05,089 --> 04:15:06,457 PATIENTS NECESSARILY WANT AND IT 5358 04:15:06,524 --> 04:15:08,092 MAKES SENSE, YOU WANT THE 5359 04:15:08,159 --> 04:15:08,393 TREATMENT. 5360 04:15:08,459 --> 04:15:10,428 BUT UNTIL WE UNDERSTAND WHAT THE 5361 04:15:10,495 --> 04:15:12,196 DISEASE DOES WITHOUT TREATMENT 5362 04:15:12,263 --> 04:15:15,333 AND WHAT THE VARIABILITY IS 5363 04:15:15,400 --> 04:15:20,738 BETWEEN PATIENTS IT'S NEARLY 5364 04:15:20,805 --> 04:15:22,073 IMPOSSIBLE TO BE ABLE TO 5365 04:15:22,140 --> 04:15:24,275 UNDERSTAND WHAT AN IMPROVEMENT 5366 04:15:24,342 --> 04:15:25,043 IS GOING TO BE. 5367 04:15:25,109 --> 04:15:26,511 IT'S IMPORTANT WE UNDERSTAND 5368 04:15:26,577 --> 04:15:27,612 WHAT THE DISEASE IS DOING BEFORE 5369 04:15:27,679 --> 04:15:28,346 WE GO AND TRY TO MAKE 5370 04:15:28,413 --> 04:15:32,483 TREATMENTS. 5371 04:15:32,550 --> 04:15:34,052 ARE END POINTS AVAILABLE? 5372 04:15:34,118 --> 04:15:36,320 WHAT BIOMARKERS ARE AVAILABLE? 5373 04:15:36,387 --> 04:15:37,588 HOW WILL WE MEASURE CHANGE IN 5374 04:15:37,655 --> 04:15:39,223 THE PATIENT? 5375 04:15:39,290 --> 04:15:40,725 AND HOW DO WE CORRELATE THAT TO 5376 04:15:40,792 --> 04:15:42,427 WHAT WE ARE SEEING IN THE ANIMAL 5377 04:15:42,493 --> 04:15:43,561 STUDIES WE PERFORM? 5378 04:15:43,628 --> 04:15:45,196 I THINK YOU SPLAY HEARD EVEN IN 5379 04:15:45,263 --> 04:15:49,701 THE NEWS THERE'S LOTS OF TALK 5380 04:15:49,767 --> 04:15:53,671 ABOUT TRYING TO GET THE GENE 5381 04:15:53,738 --> 04:15:56,107 THERAPY PROGRAMS APPRESSED ON 5382 04:15:56,174 --> 04:15:57,975 SURROGATE CLINICAL END POINTS 5383 04:15:58,042 --> 04:15:58,843 AND I LIKE THAT. 5384 04:15:58,910 --> 04:16:00,111 I THINK WE'RE MOVING IN THE 5385 04:16:00,178 --> 04:16:00,878 RIGHT DIRECTION. 5386 04:16:00,945 --> 04:16:03,047 THERE'S SO MANY THERAPIES THAT 5387 04:16:03,114 --> 04:16:04,582 ARE PROMISING BUT WE CAN'T GET 5388 04:16:04,649 --> 04:16:07,485 OVER THE FINISH LINE BECAUSE OF 5389 04:16:07,552 --> 04:16:08,219 THE HURDLES. 5390 04:16:08,286 --> 04:16:09,620 ALL OF THESE THINGS ARE 5391 04:16:09,687 --> 04:16:10,855 IMPORTANT TO THINK ABOUT WHEN 5392 04:16:10,922 --> 04:16:13,091 WE'RE THINKING ABOUT DO WE TAKE 5393 04:16:13,157 --> 04:16:15,426 THIS PROGRAM ON TO TRY AND BRING 5394 04:16:15,493 --> 04:16:17,862 A GENE THERAPY TO PATIENTS. 5395 04:16:17,929 --> 04:16:19,897 ONE COMMENT ON THE MONOGENIC 5396 04:16:19,964 --> 04:16:21,733 VERSUS POLY GENIC DISEASES. 5397 04:16:21,799 --> 04:16:25,203 MANY GENE THERAPIES ARE 5398 04:16:25,269 --> 04:16:27,972 TARGETING MONOGENETIC DISORDERS 5399 04:16:28,039 --> 04:16:29,040 WHERE YOU HAVE A GENETIC DISEASE 5400 04:16:29,107 --> 04:16:30,641 AN THERE'S A SINGLE MUTATION AND 5401 04:16:30,708 --> 04:16:32,810 YOU CAN HAVE A GENE THERAPY THAT 5402 04:16:32,877 --> 04:16:34,479 ADDRESSES THAT MUTATION BUT I 5403 04:16:34,545 --> 04:16:35,947 THINK WE'LL START TO SEE GENE 5404 04:16:36,013 --> 04:16:39,450 THERAPIES MOVE INTO MORE POLY 5405 04:16:39,517 --> 04:16:41,385 GENETIC AND MULTI-FACTORIAL 5406 04:16:41,452 --> 04:16:43,488 DISEASE THAT MAY ADDRESS A 5407 04:16:43,554 --> 04:16:45,056 COMMON PATHWAY AS WELL. 5408 04:16:45,123 --> 04:16:47,525 IT'S PROBABLY GOING TO BE MORE 5409 04:16:47,592 --> 04:16:48,526 CHALLENGING TO SHOW BENEFIT 5410 04:16:48,593 --> 04:16:51,295 DEPENDING ON TE DISEASE BUT I 5411 04:16:51,362 --> 04:16:53,498 THINK YOU'LL SEE GENE THERAPY 5412 04:16:53,564 --> 04:16:55,466 HEADING IN THAT DIRECTION ALSO. 5413 04:16:55,533 --> 04:16:58,336 TO TELL YOU A LITTLE BIT ABOUT 5414 04:16:58,402 --> 04:17:01,072 OUR RETT SYNDROME GENE THERAPY 5415 04:17:01,139 --> 04:17:01,305 PROGRAM. 5416 04:17:01,372 --> 04:17:05,777 IT AFFECTS ABOUT 1 IN 10,000 5417 04:17:05,843 --> 04:17:08,112 FEMALE BIRTHS. 5418 04:17:08,179 --> 04:17:12,416 AND IT LEADS TO SEVERE 5419 04:17:12,483 --> 04:17:13,584 IMPAIRMENT NORMALLY BEGINNING 5420 04:17:13,651 --> 04:17:16,587 AROUND AGE 1 OR SO WHERE GIRLS 5421 04:17:16,654 --> 04:17:21,959 GO THROUGH A PERIOD OF LOSING 5422 04:17:22,026 --> 04:17:24,362 DEVELOPMENT MILESTONES AND 9th 5423 04:17:24,428 --> 04:17:28,599 AFFECTS ALL ASPECTS OF LIFE. 5424 04:17:28,666 --> 04:17:30,535 THE MUTATION IS MEC P2 AND IT'S 5425 04:17:30,601 --> 04:17:33,037 IMPORTANT FOR THE FUNCTIONING 5426 04:17:33,104 --> 04:17:36,808 PARTICULARLY OF THE BRAIN CELLS. 5427 04:17:36,874 --> 04:17:39,443 GENE THERAPY IN RETT SYNDROME IS 5428 04:17:39,510 --> 04:17:40,912 CHALLENGING BECAUSE THERE'S AN 5429 04:17:40,978 --> 04:17:43,214 OVEREXPRESSION SYNDROME. 5430 04:17:43,281 --> 04:17:45,449 IF YOU HAVE TOO MUCH MEC P2 CAN 5431 04:17:45,516 --> 04:17:46,551 CAUSE PROBLEMS AND IT'S X 5432 04:17:46,617 --> 04:17:46,984 LINKED. 5433 04:17:47,051 --> 04:17:50,288 THE MUTATION IS ON AN X 5434 04:17:50,354 --> 04:17:51,088 CHROMOSOME. 5435 04:17:51,155 --> 04:17:52,490 IN GIRLS YOU HAVE SOME CELLS 5436 04:17:52,557 --> 04:17:56,294 THAT HAVE NORMAL LEVELS OF MEC 5437 04:17:56,360 --> 04:18:00,164 P2 AND SOME HAVE THE MUTATION SO 5438 04:18:00,231 --> 04:18:02,900 THEY'RE DEFICIENT. 5439 04:18:02,967 --> 04:18:04,702 THE PROGRAM AT TAYSHA IS DESIGN 5440 04:18:04,769 --> 04:18:06,637 TO HAVE A REGULATORY ELEMENT 5441 04:18:06,704 --> 04:18:10,107 WITHIN THE PRODUCT CALLED AM I 5442 04:18:10,174 --> 04:18:10,641 RARE. 5443 04:18:10,708 --> 04:18:15,580 THE PRODUCT IS A MINI MEC 2 GENE 5444 04:18:15,646 --> 04:18:18,182 AND HAS THE SEMI RARE FEEDBACK 5445 04:18:18,249 --> 04:18:20,051 LOOP THAT OPERATES ON A CELL BY 5446 04:18:20,117 --> 04:18:20,518 CELL BASIS. 5447 04:18:20,585 --> 04:18:22,753 THE GOAL IS TO HAVE LEVELS OF 5448 04:18:22,820 --> 04:18:27,491 MEC P2 REGULATED IN EACH 5449 04:18:27,558 --> 04:18:29,360 INDIVIDUAL CELL. 5450 04:18:29,427 --> 04:18:33,965 WE DO HAVE TWO TRIALS ONGOING IN 5451 04:18:34,031 --> 04:18:35,700 CANADA AND U.S. AND DOSED TWO 5452 04:18:35,766 --> 04:18:37,501 PATIENTS SO IT'S EXCITING. 5453 04:18:37,568 --> 04:18:39,837 ONE REASON WE SELECTED RHETT 5454 04:18:39,904 --> 04:18:40,805 SYNDROME IS BECAUSE IT CHECKED 5455 04:18:40,872 --> 04:18:43,007 BOX OF US UNDERSTANDING THE 5456 04:18:43,074 --> 04:18:48,079 DISEASE AND HAVING THE NATURAL 5457 04:18:48,145 --> 04:18:58,789 HISTORY AND END POINTS AS WELL. 5458 04:18:58,856 --> 04:19:01,859 I THINK I TOUCHED THIS AND BIG 5459 04:19:01,926 --> 04:19:02,860 THINGS CONTRIBUTE TO NATURAL 5460 04:19:02,927 --> 04:19:04,161 HISTORY STUDIES AND WORK ON THE 5461 04:19:04,228 --> 04:19:06,330 END POINTS AND WE HAVE TO WORK 5462 04:19:06,397 --> 04:19:06,597 TOGETHER. 5463 04:19:06,664 --> 04:19:07,865 THINGS LIKE THE BESPOKE PROGRAM 5464 04:19:07,932 --> 04:19:09,467 AT NIH WHERE WE'RE LOOKING AT A 5465 04:19:09,533 --> 04:19:15,473 NUMBER OF DISEASES, MAKING 5466 04:19:15,539 --> 04:19:18,175 LEARNING PUBLIC SHARING 5467 04:19:18,242 --> 04:19:21,178 INFORMATION IS GOING TO BE KEY. 5468 04:19:21,245 --> 04:19:23,881 WHERE ARE WE GOING IN THE 5469 04:19:23,948 --> 04:19:24,148 FUTURE. 5470 04:19:24,215 --> 04:19:27,318 THE TECHNOLOGY WILL ONLY GET 5471 04:19:27,385 --> 04:19:29,153 BETTER AND WE'LL DELIVER NOVEL 5472 04:19:29,220 --> 04:19:30,521 DELIVERY SYSTEMS, MAYBE 5473 04:19:30,588 --> 04:19:32,223 NON-VIRAL DELIVERY SYSTEMS AND 5474 04:19:32,290 --> 04:19:32,890 GET BETTER AND MORE EFFICIENT 5475 04:19:32,957 --> 04:19:35,159 AND SEE IT MOVE TO OTHER 5476 04:19:35,226 --> 04:19:37,461 DISEASES MORE COMMON AND 5477 04:19:37,528 --> 04:19:48,072 HOPEFULLY MORE INTO ULTRA RARE. 5478 04:19:50,141 --> 04:19:55,479 AND I WATCHED JAVI SIT UP AND 5479 04:19:55,546 --> 04:19:57,648 AMELIA PROGRESS FROM SITTING TO 5480 04:19:57,715 --> 04:20:00,017 WALKING TO ATTENDING 5481 04:20:00,084 --> 04:20:00,351 KINDERGARTEN. 5482 04:20:00,418 --> 04:20:02,019 SHE'S LIVING A NORMAL LIFE WHICH 5483 04:20:02,086 --> 04:20:03,020 IS INCREDIBLE IF YOU THINK WHERE 5484 04:20:03,087 --> 04:20:05,690 WE STARTED WITH HER OLDEST 5485 04:20:05,756 --> 04:20:05,923 BROTHER. 5486 04:20:05,990 --> 04:20:07,358 I'M EXCITE THE TO SEE WHERE THIS 5487 04:20:07,425 --> 04:20:08,059 TECHNOLOGY GOES. 5488 04:20:08,125 --> 04:20:10,227 I THINK IT HOLDS PROMISE AND 5489 04:20:10,294 --> 04:20:11,095 WE'RE ONLY GOING TO CONTINUE TO 5490 04:20:11,162 --> 04:20:13,831 MAKE PRLGS HERE. 5491 04:20:13,898 --> 04:20:14,799 -- PROGRESS HERE. 5492 04:20:14,865 --> 04:20:16,467 SPECIAL THANK YOU TO THE MEDINA 5493 04:20:16,534 --> 04:20:17,368 FAMILY FOR ALLOWING KNOW SHARE 5494 04:20:17,435 --> 04:20:18,536 THEIR STORY. 5495 04:20:18,602 --> 04:20:19,470 I DON'T KNOW IF THERE'S TIME FOR 5496 04:20:19,537 --> 04:20:29,714 QUESTIONS. 5497 04:20:37,088 --> 04:20:44,395 >> THIS HAVE A VIRTUAL ATTENDEE. 5498 04:20:44,462 --> 04:20:47,465 WHAT IS THE MOST ETHICAL GENE 5499 04:20:47,531 --> 04:20:48,632 CHALLENGE ABOUT GENE THERAPY? 5500 04:20:48,699 --> 04:20:51,102 >> THE MOST IMPORTANT ETHICAL 5501 04:20:51,168 --> 04:20:55,306 CHALLENGE? 5502 04:20:55,373 --> 04:20:59,310 I THINK THIS HAS BEEN IN THE 5503 04:20:59,377 --> 04:20:59,543 NEWS. 5504 04:20:59,610 --> 04:21:02,213 I THINK THE COST OF GENE THERAPY 5505 04:21:02,279 --> 04:21:04,849 RIGHT NOW IS A BIG ONE AND I 5506 04:21:04,915 --> 04:21:07,485 THINK AS A SOCIETY WE HAVEN'T 5507 04:21:07,551 --> 04:21:10,021 QUITE FIGURED OUT HOW TO MANAGE 5508 04:21:10,087 --> 04:21:12,256 THAT WITH SYSTEMS NOT 5509 04:21:12,323 --> 04:21:15,059 NECESSARILY BEING SET UP FOR 5510 04:21:15,126 --> 04:21:15,493 ONE-TIME THERAPIES. 5511 04:21:15,559 --> 04:21:16,127 THAT'S SOMETHING WE'LL HAVE TO 5512 04:21:16,193 --> 04:21:25,936 FIGURE OUT TOGETHER. 5513 04:21:26,003 --> 04:21:28,739 >> THAT IS A GENETIC MUTATION 5514 04:21:28,806 --> 04:21:33,411 SEEN IN MULTIPLE KIDS IN THE 5515 04:21:33,477 --> 04:21:34,678 FAMILY DID YOU SEE IF THERE WAS 5516 04:21:34,745 --> 04:21:35,646 IMMUNITY BEING BUILT IN THE 5517 04:21:35,713 --> 04:21:37,715 OTHER KIDS THAT WEREN'T ELIGIBLE 5518 04:21:37,782 --> 04:21:39,116 FOR THE CLINICAL TRIALS AND WAS 5519 04:21:39,183 --> 04:21:41,452 THERE ANYTHING STUDIED ON THAT 5520 04:21:41,519 --> 04:21:42,720 AND WHAT WERE YOUR RESULTS? 5521 04:21:42,787 --> 04:21:44,055 >> THAT'S A GREAT QUESTION AND 5522 04:21:44,121 --> 04:21:45,890 SOMETHING WE THINK ABOUT WHEN WE 5523 04:21:45,956 --> 04:21:48,559 HAVE DISORDERS WHERE WE HAVE 5524 04:21:48,626 --> 04:21:49,660 MULTIPLE SIBLINGS IN THE SAME 5525 04:21:49,727 --> 04:21:51,495 FAMILY THAT MAY BE ELIGIBLE FOR 5526 04:21:51,562 --> 04:21:54,198 GENE THERAPY. 5527 04:21:54,265 --> 04:21:56,600 WITH THIS FAMILY BECAUSE THEY'RE 5528 04:21:56,667 --> 04:21:58,002 ON THREE DIFFERENT TREATMENTS 5529 04:21:58,069 --> 04:22:01,205 NOW WHICH IS AMAZING YOU DON'T 5530 04:22:01,272 --> 04:22:04,141 HAVE TO WORRY ABOUT THE SHEDDING 5531 04:22:04,208 --> 04:22:05,709 OF GENE THERAPY NOR YOUNGEST BUT 5532 04:22:05,776 --> 04:22:07,445 IT'S SOMETHING WE THINK ABOUT. 5533 04:22:07,511 --> 04:22:08,446 THIS SOMETHING THAT I THINK 5534 04:22:08,512 --> 04:22:11,148 HASN'T BEEN COMPLETED ANSWERED 5535 04:22:11,215 --> 04:22:14,852 EVEN IN THE FIELD IS IF SOMEBODY 5536 04:22:14,919 --> 04:22:19,090 DOES HAVE NATURAL IMMUNITY TO 5537 04:22:19,156 --> 04:22:21,392 THE VIRAL VECTORS CAN WE DOSE 5538 04:22:21,459 --> 04:22:22,626 THEM WITH GENE THERAPY AND IS IT 5539 04:22:22,693 --> 04:22:27,865 SOMETHING WE'RE TRYING TO FIGURE 5540 04:22:27,932 --> 04:22:36,874 OUT. 5541 04:22:36,941 --> 04:22:38,175 >> YOU'RE SEEING DIFFERENCE 5542 04:22:38,242 --> 04:22:39,009 BETWEEN TRIALS. 5543 04:22:39,076 --> 04:22:42,079 SOME ARE ALLOWING PATIENTS IN 5544 04:22:42,146 --> 04:22:44,515 THAT HAVE BUILT UP IMMUNITY AND 5545 04:22:44,582 --> 04:22:46,016 SOME AREN'T AND IT DEPENDING ON 5546 04:22:46,083 --> 04:22:47,685 WHERE YOU'RE DOSING IN THE 5547 04:22:47,751 --> 04:22:48,719 FIGURE AND SOMETHING WE'RE STILL 5548 04:22:48,786 --> 04:22:51,222 TRYING TO FIGURE OUT TOGETHER. 5549 04:22:51,288 --> 04:22:53,491 >> WHAT IS THE AAV GOING TO LOOK 5550 04:22:53,557 --> 04:22:55,192 LIKE FOR CROSS REACTIVITY AND 5551 04:22:55,259 --> 04:23:00,131 THE SHEDDING AND WILL IT BECOME 5552 04:23:00,197 --> 04:23:01,332 14% AND NOW 80% WITH NATURAL 5553 04:23:01,398 --> 04:23:02,500 IMMUNITY AND WHAT'S THAT LOOK 5554 04:23:02,566 --> 04:23:03,100 LIKE. 5555 04:23:03,167 --> 04:23:05,202 >> OR IF YOU GET ONE VARIANT CAN 5556 04:23:05,269 --> 04:23:06,837 YOU DOSE WITH ANOTHER VARIANT OF 5557 04:23:06,904 --> 04:23:07,304 AAV? 5558 04:23:07,371 --> 04:23:10,074 WE DON'T KNOW THE ANSWERS TO 5559 04:23:10,141 --> 04:23:20,417 THOSE QUESTIONS. 5560 04:23:39,270 --> 04:23:49,380 [OFF-MIC] 5561 04:24:03,460 --> 04:24:04,595 >> THAT'S A GREAT QUESTION AS 5562 04:24:04,662 --> 04:24:04,795 WELL. 5563 04:24:04,862 --> 04:24:07,598 WHEN WE DOSE AS INFANTS THEIR 5564 04:24:07,665 --> 04:24:09,433 SYSTEMS AREN'T FULLY DEVELOPED 5565 04:24:09,500 --> 04:24:12,169 WILL THEY BE ABLE TO TOLERATE 5566 04:24:12,236 --> 04:24:13,837 DIFFERENTLY THAN SOMEONE OLDER. 5567 04:24:13,904 --> 04:24:14,572 THERE'S MANY UNDERLYING 5568 04:24:14,638 --> 04:24:17,107 QUESTIONS IN WHAT WE SHOULD BE 5569 04:24:17,174 --> 04:24:19,710 DOING AS FAR AS ADMINISTERING 5570 04:24:19,777 --> 04:24:21,011 IMMUNOSUPPRESSIVE THERAPY AND 5571 04:24:21,078 --> 04:24:24,882 YOU'RE SEEING A WIDE VARIETY OF 5572 04:24:24,949 --> 04:24:26,684 DIFFERENCES IN TRIALS WITH 5573 04:24:26,750 --> 04:24:27,084 IMMUNOSUPPRESSION. 5574 04:24:27,151 --> 04:24:28,719 IT'S A HOT TOPIC IN THE FIELD 5575 04:24:28,786 --> 04:24:31,655 WE'RE NEEDING TO ADDRESS 5576 04:24:31,722 --> 04:24:33,090 TOGETHER AS WELL. 5577 04:24:33,157 --> 04:24:33,591 [OFF-MIC] 5578 04:24:33,657 --> 04:24:34,458 >> MANY COMPANIES DO. 5579 04:24:34,525 --> 04:24:43,167 WE DO IN OUR TROIL AS WELL. 5580 04:24:43,234 --> 04:24:44,702 >> THANK YOU FOR THE 5581 04:24:44,768 --> 04:24:45,469 PRESENTATION. 5582 04:24:45,536 --> 04:24:46,737 IT'S INFORMATIVE. 5583 04:24:46,804 --> 04:24:48,005 YOU ENDED ON A LOT OF EXCITEMENT 5584 04:24:48,072 --> 04:24:50,541 FOR THE FIELD BUT I'M ALSO 5585 04:24:50,608 --> 04:24:51,875 REMEMBERING THE CHILLING EFFECT 5586 04:24:51,942 --> 04:24:53,711 TAKING PLACE AROUND THE EARLY 5587 04:24:53,777 --> 04:24:54,278 2000s. 5588 04:24:54,345 --> 04:24:58,749 MY QUESTION TO YOU IS YOUR 5589 04:24:58,816 --> 04:25:00,517 PERSPECTIVE WHETHER OR NOT GENE 5590 04:25:00,584 --> 04:25:02,586 THERAPY IS SUSCEPTIBLE TO THE 5591 04:25:02,653 --> 04:25:03,654 CHILLING EFFECT OF HOLD ON 5592 04:25:03,721 --> 04:25:05,089 DEVELOPMENT AS THE PATIENTS MAY 5593 04:25:05,155 --> 04:25:08,058 OR MAY NOT HAVE THE CLINICAL 5594 04:25:08,125 --> 04:25:08,859 OUTCOMES WE EXPECT. 5595 04:25:08,926 --> 04:25:09,593 >> YOU BET. 5596 04:25:09,660 --> 04:25:11,328 I THINK WHAT YOU MAY BE 5597 04:25:11,395 --> 04:25:13,564 REFERRING TO THERE WAS EARLY ON 5598 04:25:13,631 --> 04:25:15,199 WHEN GENE THERAPY WAS FIRST 5599 04:25:15,266 --> 04:25:16,533 TAKING OFF IN THE '90s THERE WAS 5600 04:25:16,600 --> 04:25:19,737 A DEATH OF AN INDIVIDUAL WHO 5601 04:25:19,803 --> 04:25:21,438 RECEIVED A GENE THERAPY FOR A 5602 04:25:21,505 --> 04:25:26,744 RARE LIVER DISEASE AND SET THE 5603 04:25:26,810 --> 04:25:28,279 FIELD BACK. 5604 04:25:28,345 --> 04:25:30,147 THAT INDIVIDUAL DEVELOPED A 5605 04:25:30,214 --> 04:25:40,324 SEVERE IMMUNE REACTION. 5606 04:25:40,391 --> 04:25:43,260 EVERY PATIENT THAT'S DOSED IS 5607 04:25:43,327 --> 04:25:44,028 IMPORTANT AND EVERY EVENT IS 5608 04:25:44,094 --> 04:25:45,162 NEWS WORTHY. 5609 04:25:45,229 --> 04:25:47,598 WE ALWAYS SAY THIS TECHNOLOGY IS 5610 04:25:47,665 --> 04:25:56,540 LIKE DRIVING A LAMBORGHINI AND 5611 04:25:56,607 --> 04:25:59,143 WE HAVE TO BE CAREFUL AND USE IT 5612 04:25:59,209 --> 04:25:59,843 SAFELY AS WELL. 5613 04:25:59,910 --> 04:26:01,545 IT'S A GREAT POINT AND I THINK 5614 04:26:01,612 --> 04:26:08,519 WE'RE STILL VERY EARLY ON. 5615 04:26:08,585 --> 04:26:08,852 >> THANK YOU. 5616 04:26:08,919 --> 04:26:11,789 >> THANK YOU. 5617 04:26:11,855 --> 04:26:12,756 >> EVERYBODY, WE'RE GOING TO 5618 04:26:12,823 --> 04:26:15,159 TAKE A SHORT BREAK. 5619 04:26:15,225 --> 04:26:18,162 BE BACK BY 3:15. 5620 04:26:18,228 --> 04:26:18,662 THANK YOU. 5621 04:26:18,729 --> 04:26:20,731 >> THE NEXT SESSION, RARE STORY 5622 04:26:20,798 --> 04:26:26,537 NUMBER 8, IT IS MY PLEASURE TO 5623 04:26:26,603 --> 04:26:32,376 INTRODUCE DR. ERIC HOFFMAN AND 5624 04:26:32,443 --> 04:26:33,911 HE'S A PROFESSOR OF 5625 04:26:33,977 --> 04:26:36,013 PHARMACEUTICAL SCIENCES AT BRING 5626 04:26:36,080 --> 04:26:37,981 HAMPTON UNIVERSITY AND CEO OF 5627 04:26:38,048 --> 04:26:40,317 RARE GEN BIO PHARMA. 5628 04:26:40,384 --> 04:26:43,320 SHARON HETERLEE OF THE CHIEF 5629 04:26:43,387 --> 04:26:46,323 RESEARCH OFFICER OF THE MUSCULAR 5630 04:26:46,390 --> 04:26:46,890 DYSTROPHY ASSOCIATION AND 5631 04:26:46,957 --> 04:26:47,958 THEY'LL START BY TALKING ABOUT 5632 04:26:48,025 --> 04:26:49,293 THE PROGRAM AND WE'LL SIT DOWN 5633 04:26:49,360 --> 04:26:54,798 AND HAVE A FEW MINUTES FOR Q&A. 5634 04:26:54,865 --> 04:26:57,201 >> WE'RE DOING A QUICK TAG TEAM, 5635 04:26:57,267 --> 04:26:59,470 SHARON AND I IN PART BECAUSE 5636 04:26:59,536 --> 04:27:02,206 SHARON WAS AT THE MUSCULAR 5637 04:27:02,272 --> 04:27:03,173 DYSTROPHY ASSOCIATION. 5638 04:27:03,240 --> 04:27:04,508 THERE'S A HUGE REASON THE 5639 04:27:04,575 --> 04:27:11,281 PROGRAM WENT FORWARD WITH NCATS 5640 04:27:11,348 --> 04:27:15,919 THE SPONSOR SOMEONE DESCRIBED 5641 04:27:15,986 --> 04:27:20,557 THIS WILL BE ABOUT DUCHESNE 5642 04:27:20,624 --> 04:27:23,594 DISEASE AND WE HAVE A PANEL 5643 04:27:23,660 --> 04:27:25,362 AFTER THIS AND KWAEP. 5644 04:27:25,429 --> 04:27:27,564 -- Q&A. 5645 04:27:27,631 --> 04:27:31,568 I'M NOT GOING TO SPEAK MUCH 5646 04:27:31,635 --> 04:27:34,938 ABOUT DUCHESNE MUSCULAR 5647 04:27:35,005 --> 04:27:35,205 DYSTROPHY. 5648 04:27:35,272 --> 04:27:36,540 THIS IS A DRUG DEVELOPMENT 5649 04:27:36,607 --> 04:27:40,577 PROGRAM THAT TOOK ONE ATOM OFF 5650 04:27:40,644 --> 04:27:40,878 PREDNISONE. 5651 04:27:40,944 --> 04:27:43,914 IT'S ONE OFF THE COMMONLY PLEA 5652 04:27:43,981 --> 04:27:46,183 SCRIBED DRUGS. 5653 04:27:46,250 --> 04:27:56,126 THE YOUNG MAN LIVING WITH 5654 04:27:56,193 --> 04:28:00,364 DERMATO MYOSITIS TALKED ABOUT IT 5655 04:28:00,431 --> 04:28:03,967 THIS MORNING AND WE ENDED UP 5656 04:28:04,034 --> 04:28:06,236 WITH THREE DIFFERENTIATIONS FROM 5657 04:28:06,303 --> 04:28:07,337 THE CORTICO STEROID CLASS. 5658 04:28:07,404 --> 04:28:13,510 I'LL GO THROUGH HOW WE 5659 04:28:13,577 --> 04:28:14,344 DEVELOPED THIS BRIEFLY. 5660 04:28:14,411 --> 04:28:18,916 USUALLY WHEN YOU HAVE A NEW 5661 04:28:18,982 --> 04:28:21,452 COMPOUND SPUN A UNIVERSITY ABOUT 5662 04:28:21,518 --> 04:28:25,122 30% OF DRUGS ARE SPUN OFF 5663 04:28:25,189 --> 04:28:27,558 U.S. DIVERSITIES AND ECO SYSTEM. 5664 04:28:27,624 --> 04:28:30,427 THEN SPIN OFF A COMPANY, GET 5665 04:28:30,494 --> 04:28:32,229 VENTURE CAPITAL AND THEN THE 5666 04:28:32,296 --> 04:28:33,630 SMALL COMPANY GETS BOUGHT OUT BY 5667 04:28:33,697 --> 04:28:34,765 A BIG COMPANY. 5668 04:28:34,832 --> 04:28:37,267 WE WENT DOWN A DIFFERENT PATH. 5669 04:28:37,334 --> 04:28:39,503 I SHOULD FIRST ACKNOWLEDGE JOHN 5670 04:28:39,570 --> 04:28:41,705 McCALL THE CHEMIST WHO INVENTED 5671 04:28:41,772 --> 04:28:44,341 THE CHEMISTRY WE DID AND WELL 5672 04:28:44,408 --> 04:28:46,443 KNOWN TO NIH AND NCATS AND 5673 04:28:46,510 --> 04:28:49,012 ADVISER ON MANY NIH PANELS. 5674 04:28:49,079 --> 04:28:54,618 THE REASON IS WE HAD KEY 5675 04:28:54,685 --> 04:28:57,988 DIFFERENCES FROM THE WELL 5676 04:28:58,055 --> 04:29:00,791 TRODDEN PATH AND WE WERE NOT 5677 04:29:00,858 --> 04:29:02,459 SEXY AND V.C.s WERE NOT 5678 04:29:02,526 --> 04:29:04,228 INTERESTED BUT WE HAD GOOD 5679 04:29:04,294 --> 04:29:06,897 THINGS GOING FOR US LARGELY 5680 04:29:06,964 --> 04:29:09,633 BECAUSE OF NIH AND FEDERAL 5681 04:29:09,700 --> 04:29:18,075 FUNDING AND FOUNDATIONS AND HAD 5682 04:29:18,141 --> 04:29:18,976 INFRASTRUCTURE FOR MOUSE 5683 04:29:19,042 --> 04:29:22,312 CLINICAL TRIALS AND SET UP WITH 5684 04:29:22,379 --> 04:29:30,587 THEED TO -- WITH DOD AND ENDED 5685 04:29:30,654 --> 04:29:33,657 UP WITH THIS PHILANTHROPY CHILD 5686 04:29:33,724 --> 04:29:37,060 AND WE WORKED WITH THE NCATS 5687 04:29:37,127 --> 04:29:39,196 TREND AND WERE AN INITIAL 5688 04:29:39,263 --> 04:29:40,297 AWARDEE AND BROUGHT DEVELOPMENT 5689 04:29:40,364 --> 04:29:41,698 EXPERTS TO THE MAM. 5690 04:29:41,765 --> 04:29:43,333 THEY REPEATED KEY THINGS WE ADD 5691 04:29:43,400 --> 04:29:46,436 DONE AS ACADEMIC LABS AND FOUND 5692 04:29:46,503 --> 04:29:47,337 THEY WERE VALIDATED AND THAT 5693 04:29:47,404 --> 04:29:50,841 HELPED DERISK THE PROGRAM. 5694 04:29:50,908 --> 04:29:53,510 THEYED AED IN MANUFACTURING 5695 04:29:53,577 --> 04:29:56,246 CONTROLS, ADME AND SUPPORT IN 5696 04:29:56,313 --> 04:29:56,547 KIND. 5697 04:29:56,613 --> 04:29:58,949 THE NCATS DIDN'T GIVE US MONEY 5698 04:29:59,016 --> 04:30:01,084 INSTEAD THEY USED THE GREAT 5699 04:30:01,151 --> 04:30:04,388 MACHINE OF EXPERTS WITHIN THE 5700 04:30:04,454 --> 04:30:06,957 INTRAMURAL CAMPUS TO CO-DEVELOP 5701 04:30:07,024 --> 04:30:07,324 WITH US. 5702 04:30:07,391 --> 04:30:10,527 WE STARTED WORKING WITH 5703 04:30:10,594 --> 04:30:16,066 NONPROFITS AND SHARON HESTERLEE 5704 04:30:16,133 --> 04:30:17,401 WILL TALK ABOUT THIS AND HOW 5705 04:30:17,467 --> 04:30:18,969 THEY CONTINUE TO WORK IN 5706 04:30:19,036 --> 04:30:20,904 DEVELOPING COUNTRIES WITH 5707 04:30:20,971 --> 04:30:24,141 CONTRACTS WITH 400% ON RETURN 5708 04:30:24,207 --> 04:30:28,579 WITH THE NONPROFIT AND WE SAID 5709 04:30:28,645 --> 04:30:30,647 WITH LATER DRUG SALES WE'LL GIVE 5710 04:30:30,714 --> 04:30:32,082 BACK 400% ON THE INVESTMENT. 5711 04:30:32,149 --> 04:30:35,319 WE STARTED TO PAY BACK THOSE 5712 04:30:35,385 --> 04:30:35,619 FOUNDATIONS. 5713 04:30:35,686 --> 04:30:38,388 EN FACT OVER THE NEXT THREE 5714 04:30:38,455 --> 04:30:42,459 YEARS ABOUT TWO-THIRDS OF THE 5715 04:30:42,526 --> 04:30:44,161 INCOME TO WILL JUST BE PASSED 5716 04:30:44,227 --> 04:30:46,029 THROUGH TO NON-PROFIT 5717 04:30:46,096 --> 04:30:46,330 FOUNDATIONS. 5718 04:30:46,396 --> 04:30:47,631 SO HERE I'LL TURN IT OVER TO 5719 04:30:47,698 --> 04:30:51,535 SHARON TO TALK ABOUT THE VENTURE 5720 04:30:51,602 --> 04:30:59,376 PHILANTHROPY MODEL. 5721 04:30:59,443 --> 04:31:01,545 I'LL SAY WORDS ABOUT THIS AND 5722 04:31:01,612 --> 04:31:04,214 HOW THE MUSCULAR DYSTROPHY WAS 5723 04:31:04,281 --> 04:31:04,748 INVOLVED. 5724 04:31:04,815 --> 04:31:06,917 IT'S ANOTHER THING IN OUR TOOL 5725 04:31:06,984 --> 04:31:12,656 KIT A WAY TO DERISK AND 5726 04:31:12,723 --> 04:31:14,658 INCENTIVIZE RARE DEVELOPMENT FOR 5727 04:31:14,725 --> 04:31:16,293 RARE DISEASE BUT 20 YEARS AGO 5728 04:31:16,360 --> 04:31:16,960 THERE WAS LITTLE RECOGNITION 5729 04:31:17,027 --> 04:31:18,328 RARE DISEASE WAS A PROBLEM. 5730 04:31:18,395 --> 04:31:20,464 NOW THINGS HAVE CHANGED. 5731 04:31:20,530 --> 04:31:22,766 WE'RE NOT THERE YET BUT 5732 04:31:22,833 --> 04:31:25,569 CERTAINLY THERE'S A RECOGNITION 5733 04:31:25,636 --> 04:31:29,573 RARE DISEASES ARE COMMON IN 5734 04:31:29,640 --> 04:31:32,542 AGGREGATE. 5735 04:31:32,609 --> 04:31:35,178 20 YEARS AGO GENZYME WAS THE 5736 04:31:35,245 --> 04:31:36,213 ONLY COMPANY IN THE FACE. 5737 04:31:36,279 --> 04:31:39,249 AT THE TIME MDA WAS OVER 50 5738 04:31:39,316 --> 04:31:43,086 YEARS OLD AND INVESTED OVER $50 5739 04:31:43,153 --> 04:31:44,454 BILLION IN RESEARCH AND 5740 04:31:44,521 --> 04:31:46,923 NEUROMUSCULAR DISEASE AND WE 5741 04:31:46,990 --> 04:31:48,592 WERE IN DANGER OF SEEING A LOT 5742 04:31:48,659 --> 04:31:49,593 OF THINGS LANGUISH WITHOUT 5743 04:31:49,660 --> 04:31:51,194 MOVING ON AT THE APPROVAL 5744 04:31:51,261 --> 04:31:52,696 CONCEPT STAGE IN THE CLINIC. 5745 04:31:52,763 --> 04:31:56,033 WE STARTED IN ABOUT 2004 WITH 5746 04:31:56,099 --> 04:31:59,169 SEVERAL OTHER ORGANIZATIONS 5747 04:31:59,236 --> 04:32:00,971 JUVENILE DIABETES, CYSTIC 5748 04:32:01,038 --> 04:32:02,806 FIBROSIS AND FIGURING OUT HOW DO 5749 04:32:02,873 --> 04:32:06,209 WE FUND COMPANIES TO MOVE SOME 5750 04:32:06,276 --> 04:32:09,680 THINGS FORWARD AND DE RISK THEM 5751 04:32:09,746 --> 04:32:12,549 EVEN BEFORE ANGEL INVESTORS WERE 5752 04:32:12,616 --> 04:32:12,849 INTERESTED. 5753 04:32:12,916 --> 04:32:17,587 WE STARTED FUNDING THINGS AND IN 5754 04:32:17,654 --> 04:32:21,291 ABOUT 2009 WE REVAMPED THE 5755 04:32:21,358 --> 04:32:26,029 PROGRAM AND CALLED IT NDA 5756 04:32:26,096 --> 04:32:29,332 VENTURE PHILANTHROPY AND WE DID 5757 04:32:29,399 --> 04:32:32,135 WHAT IS CALLED A NON-DILUTIVE 5758 04:32:32,202 --> 04:32:33,303 INVESTMENT MEANING WE DID GET A 5759 04:32:33,370 --> 04:32:35,539 RETURN ON OUR INVESTMENT BUT IT 5760 04:32:35,605 --> 04:32:38,909 WAS BASED ON REVENUE OF AN 5761 04:32:38,975 --> 04:32:39,509 IMPROVED PRODUCT. 5762 04:32:39,576 --> 04:32:41,978 WE DID NOT TAKE AN EQUITY STAKE 5763 04:32:42,045 --> 04:32:42,779 IN THE COMPANY. 5764 04:32:42,846 --> 04:32:46,483 WE SUBSEQUENTLY DID TWO OTHER 5765 04:32:46,550 --> 04:32:47,751 INVESTMENTS FOR A TOTAL OF THREE 5766 04:32:47,818 --> 04:32:48,785 OVER THE YEARS AND OTHER 5767 04:32:48,852 --> 04:32:50,253 ORGANIZATIONS WERE ABLE TO USE 5768 04:32:50,320 --> 04:32:58,562 THE TEMPLATE AND INVEST IN 5769 04:32:58,628 --> 04:33:00,597 REVERA IT IS GEN AND THE GROUPS 5770 04:33:00,664 --> 04:33:02,899 THAT HELPED SUPPORT IT IS UNIQUE 5771 04:33:02,966 --> 04:33:04,801 IN THE SPACE. 5772 04:33:04,868 --> 04:33:08,772 SO WE MADE THAT INVESTMENT IN. 5773 04:33:08,839 --> 04:33:13,810 THAT'S A 14 YEAR LAG SO THAT'S 5774 04:33:13,877 --> 04:33:15,378 THE DIFFERENCE BETWEEN VENTURE 5775 04:33:15,445 --> 04:33:20,050 CAPITAL AND PHILANTHROPY. 5776 04:33:20,117 --> 04:33:22,719 VENTURE CAPITAL DOESN'T LOOK AT 5777 04:33:22,786 --> 04:33:25,055 THAT AS A STRATEGY NO THAT 5778 04:33:25,122 --> 04:33:27,524 THAT'S OUR GOAL EITHER BUT YOU 5779 04:33:27,591 --> 04:33:29,025 HAVE TO BE PATIENT AND WHEN 5780 04:33:29,092 --> 04:33:30,761 YOU'RE SUCCESS IN VENTURE 5781 04:33:30,827 --> 04:33:32,529 PHILANTHROPY IN THIS CASE OUR 5782 04:33:32,596 --> 04:33:34,631 RETURN ON INVESTMENT BASED ON 5783 04:33:34,698 --> 04:33:35,699 SALES OF A DRUG. 5784 04:33:35,766 --> 04:33:37,701 THAT'S DRUG SALES FOR OUR 5785 04:33:37,768 --> 04:33:38,101 PATIENT COMMUNITY. 5786 04:33:38,168 --> 04:33:40,837 SO THAT PUTS US IN THIS AWKWARD 5787 04:33:40,904 --> 04:33:41,238 POSITION. 5788 04:33:41,304 --> 04:33:42,205 WE HAVE TO THINK ABOUT CONFLICT 5789 04:33:42,272 --> 04:33:43,340 OF INTEREST. 5790 04:33:43,406 --> 04:33:45,342 HOW DO WE TALK ABOUT THE DRUG IF 5791 04:33:45,408 --> 04:33:46,276 WE'RE GOING BENEFIT DIRECTLY 5792 04:33:46,343 --> 04:33:47,778 FROM SALES. 5793 04:33:47,844 --> 04:33:50,413 ONE THING YOU CAN CONSIDER DOING 5794 04:33:50,480 --> 04:33:53,316 IS DIVESTING IN THE ROYALTY 5795 04:33:53,383 --> 04:33:54,117 STREAM AND HAVE AN OFFER WE'RE 5796 04:33:54,184 --> 04:33:54,384 THINKING 5797 04:33:55,418 --> 04:33:57,320 OF TAKING TO BE ABLE TO TAKE A 5798 04:33:57,387 --> 04:33:59,189 BIT OF A HAIRCUT ON OUR TOTAL 5799 04:33:59,256 --> 04:34:00,891 RETURN BUT GET THE MONEY UP 5800 04:34:00,957 --> 04:34:04,227 FRONT AND NO LONGER BE 5801 04:34:04,294 --> 04:34:05,529 AFFILIATED WITH THE SALES. 5802 04:34:05,595 --> 04:34:06,930 IT'S A DECISION EVERYBODY TO 5803 04:34:06,997 --> 04:34:08,064 THINK ABOUT AND WILL STOP THERE 5804 04:34:08,131 --> 04:34:13,870 AND TURN IT BACK TO ERIC. 5805 04:34:13,937 --> 04:34:17,240 >> ONE OTHER POINT, I WANT TO 5806 04:34:17,307 --> 04:34:20,944 THANK THE NCATS SBIR AND THE 5807 04:34:21,011 --> 04:34:21,912 EUROPEAN COMMISSION THROUGH THE 5808 04:34:21,978 --> 04:34:23,713 HORIZON PROGRAM WITH NEWCASTLE 5809 04:34:23,780 --> 04:34:24,181 UNIVERSITY. 5810 04:34:24,247 --> 04:34:24,815 THERE ARE SOME PROBLEMS WITH 5811 04:34:24,881 --> 04:34:25,549 THIS MODEL. 5812 04:34:25,615 --> 04:34:28,485 THERE'S NO POT OF MONEY TO DRAW 5813 04:34:28,552 --> 04:34:31,488 ON AND MUST KEEP THE BEAR BONES 5814 04:34:31,555 --> 04:34:37,194 AND REVERAGEN I'M CEO AT 10% 5815 04:34:37,260 --> 04:34:39,496 EFFORT BUT IT'S CRITICAL WILLING 5816 04:34:39,563 --> 04:34:41,231 TO FIND PEOPLE TO HELP AND KNOW 5817 04:34:41,298 --> 04:34:42,365 WHAT THEY'RE DOING WHICH WE'VE 5818 04:34:42,432 --> 04:34:43,900 BEEN FORTUNATE. 5819 04:34:43,967 --> 04:34:46,236 THIS IS THE PHASE 1 IN 2016 AND 5820 04:34:46,303 --> 04:34:48,238 I PUT THE NUMBER OF PATIENTS 5821 04:34:48,305 --> 04:34:50,941 INVOLVED IN EACH STUDY. 5822 04:34:51,007 --> 04:34:53,210 AND THE STUDIO CHAIR AND PAUL 5823 04:34:53,276 --> 04:34:55,445 CLEMENS FROM THE UNIVERSITY OF 5824 04:34:55,512 --> 04:34:56,780 PITTSBURGH AND NEWCASTLE 5825 04:34:56,847 --> 04:34:58,481 UNIVERSITY IN THE U.K., THE HEAD 5826 04:34:58,548 --> 04:35:01,718 OF MANY GRANTS TOGETHER WITH ME 5827 04:35:01,785 --> 04:35:05,455 AND JESSE DAMKER HERE IN THE 5828 04:35:05,522 --> 04:35:05,722 D.C. 5829 04:35:05,789 --> 04:35:08,091 ALL THIS WAS SPUN OUT OF 5830 04:35:08,158 --> 04:35:09,125 CHILDREN'S NATIONAL MEDICAL 5831 04:35:09,192 --> 04:35:10,961 CENTER A COUPLE MILES FROM 5832 04:35:11,027 --> 04:35:11,428 DOWNTOWN D.C. 5833 04:35:11,494 --> 04:35:13,230 THIS WAS DESIGN AND RUN BY 5834 04:35:13,296 --> 04:35:17,367 ACADEMIC MEDICINE, EXTENSIVE 5835 04:35:17,434 --> 04:35:20,337 DESIGN AND CONDUCT OF TRIALS. 5836 04:35:20,403 --> 04:35:21,471 SCIENTIFICALLY ROBUST AND 5837 04:35:21,538 --> 04:35:24,608 INNOVATIVE BECAUSE WE WERE NOT 5838 04:35:24,674 --> 04:35:25,408 RISK AVERSE. 5839 04:35:25,475 --> 04:35:27,110 I'LL JUST SHOW A COUPLE SLIDES 5840 04:35:27,177 --> 04:35:29,179 AND WE'LL TURN TO DISCUSSION. 5841 04:35:29,246 --> 04:35:31,081 THIS WAS A PIVOTAL TRIAL. 5842 04:35:31,147 --> 04:35:35,418 IT WAS A SCREENING PERIOD, 5843 04:35:35,485 --> 04:35:37,754 TREATMENT PERIOD. 5844 04:35:37,821 --> 04:35:40,891 AND THE PLACEBO AN PREDNISONE 5845 04:35:40,957 --> 04:35:51,434 CROSSED OVER TO THE RED IS 5846 04:36:12,789 --> 04:36:18,862 PLACEBO STABLE OR DECLINES AND 5847 04:36:18,929 --> 04:36:19,496 WI 5848 04:36:19,562 --> 04:36:29,906 WITH THE MEDICATION. 5849 04:36:35,812 --> 04:36:46,289 YOU SEE VAMOROLONE SUGGESTED THE 5850 04:36:48,191 --> 04:36:49,059 HIGHER DOSE IS BETTER. 5851 04:36:49,125 --> 04:36:51,194 THIS IS STUNTED OF GROWTH IT 5852 04:36:51,261 --> 04:36:53,196 SEEMS TO BRITTLE BONES AND THE 5853 04:36:53,263 --> 04:36:54,097 BONE MORBIDITIES. 5854 04:36:54,164 --> 04:36:55,498 WE DON'T SEE THAT WITH 5855 04:36:55,565 --> 04:36:55,799 VAMOROLONE. 5856 04:36:55,865 --> 04:36:58,134 THE BIOMARKERS REMAIN NORMAL AND 5857 04:36:58,201 --> 04:36:58,935 SEE ACCELERATED GROWTH. 5858 04:36:59,002 --> 04:37:01,237 THE BLUE LINE IS THE INCREASED 5859 04:37:01,304 --> 04:37:02,706 GROWTH ON VAMOROLONE. 5860 04:37:02,772 --> 04:37:05,575 THE TWO PINK ARE ON PREDNISONE 5861 04:37:05,642 --> 04:37:06,810 AND CROSSING OVER TO VAMOROLONE. 5862 04:37:06,876 --> 04:37:13,350 YOU SEE THE STUNTING OF GROWTH 5863 04:37:13,416 --> 04:37:16,786 FOLLOWED BY THE CROSSOVER TO 5864 04:37:16,853 --> 04:37:17,620 VAMOROLONE AND THE GROWTH PICK 5865 04:37:17,687 --> 04:37:18,121 UP. 5866 04:37:18,188 --> 04:37:23,326 IN CONCLUSIONS, IT'S SAFE AND 5867 04:37:23,393 --> 04:37:24,294 EFFECTIVE. 5868 04:37:24,361 --> 04:37:34,904 EQUALLY EFFECTIVE AS PREDNISONE 5869 04:37:35,605 --> 04:37:39,876 AND THE CO-DEVELOPMENTS AND WE 5870 04:37:39,943 --> 04:37:43,646 RECEIVED FDA APPROVAL AND U.K. 5871 04:37:43,713 --> 04:37:44,381 MRA LAST MONTH. 5872 04:37:44,447 --> 04:37:50,587 IT'S THE FIRST DRUG APPROVED IN 5873 04:37:50,653 --> 04:37:53,223 EUROPE FOR DUCHESNE MUSCULAR 5874 04:37:53,289 --> 04:37:54,257 DYSTROPHY. 5875 04:37:54,324 --> 04:37:56,926 WE WOUND UP WITH DIFFERENT 5876 04:37:56,993 --> 04:38:00,163 LABELS FROM DMA AND THE LABEL 5877 04:38:00,230 --> 04:38:01,765 SAYS WHILE THE FDA LABEL IS 5878 04:38:01,831 --> 04:38:04,267 WHERE PRETTY MUCH 5879 04:38:04,334 --> 04:38:05,869 UNDIFFERENTIATED FROM CORTICO 5880 04:38:05,935 --> 04:38:07,604 STEROID CLASS AND THE EMA LABEL 5881 04:38:07,670 --> 04:38:10,240 LOOKED AT ALL THE CLINICAL TRIAL 5882 04:38:10,306 --> 04:38:15,078 DATA AND THE MECHANISM OF ACTION 5883 04:38:15,145 --> 04:38:17,347 AND WAS WHAT I SHOWED IN THE 5884 04:38:17,414 --> 04:38:18,915 FIRST SLIDE. 5885 04:38:18,982 --> 04:38:21,117 THIS IS BONE GROWTH ON 5886 04:38:21,184 --> 04:38:21,785 VAMOROLONE OVER TWO AND A HALF 5887 04:38:21,851 --> 04:38:24,854 YEARS OR HEIGHT AND THIS IS ON 5888 04:38:24,921 --> 04:38:25,688 PREDNISONE AND THESE ARE 5889 04:38:25,755 --> 04:38:31,327 EXTERNAL COMPARATORS AND YOU SEE 5890 04:38:31,394 --> 04:38:32,662 THE GROWTH OVER ONE YEAR AND 5891 04:38:32,729 --> 04:38:35,465 STUNTING OF GROWTH AND 5892 04:38:35,532 --> 04:38:37,834 RECOVERING. 5893 04:38:37,901 --> 04:38:39,702 THE FDA LABEL SAYS THAT LONG 5894 04:38:39,769 --> 04:38:43,440 TERM USE OF CORTICO STEROIDS 5895 04:38:43,506 --> 04:38:45,108 HAVE LONG-TERM AFFECT ON GROWTH 5896 04:38:45,175 --> 04:38:45,675 AND DEVELOPMENT. 5897 04:38:45,742 --> 04:38:47,744 YOU THINK THERE'S TWO DIFFERENT 5898 04:38:47,811 --> 04:38:47,977 GROUPS. 5899 04:38:48,044 --> 04:38:49,145 IT COULD BE ANOTHER STEROID WAS 5900 04:38:49,212 --> 04:38:51,147 APPROVED IN THE U.S. BUT NOT 5901 04:38:51,214 --> 04:38:52,916 APPROVED IN EUROPE. 5902 04:38:52,982 --> 04:38:54,784 THERE'S ISSUES WITH BENCHMARKING 5903 04:38:54,851 --> 04:38:56,953 YOU HAVE TO BE CAREFUL OF. 5904 04:38:57,020 --> 04:38:59,322 THESE WERE THE DIFFERENT SITES 5905 04:38:59,389 --> 04:38:59,956 PARTICIPATING IN THE TRIALS AND 5906 04:39:00,023 --> 04:39:05,728 THE FOLKS INVOLVED. 5907 04:39:05,795 --> 04:39:09,232 TO SUMMARIZE BACK TO THE MODEL 5908 04:39:09,299 --> 04:39:10,867 IT CAN WORK THROUGH 5909 04:39:10,934 --> 04:39:11,901 INTERNATIONAL DRUG APPROVAL 5910 04:39:11,968 --> 04:39:14,170 THROUGH EXTENSIVE DERISKING 5911 04:39:14,237 --> 04:39:18,341 REDUCE THE COST OF DRUG APPROVAL 5912 04:39:18,408 --> 04:39:21,945 AND I HEARD 10% MENTIONED AND 5913 04:39:22,011 --> 04:39:24,047 DEPENDS ON HOW MUCH FILL USE ARE 5914 04:39:24,114 --> 04:39:28,084 BUILT IN AND IT'S A GREAT COST 5915 04:39:28,151 --> 04:39:29,419 REDUCTION ENGINES STAKEHOLDERS 5916 04:39:29,486 --> 04:39:32,288 AND PATIENTS AND FAMILIES AND 5917 04:39:32,355 --> 04:39:33,990 INNOVATIVE RISK TOLERANT AND NOW 5918 04:39:34,057 --> 04:39:35,458 WE'LL TALK AND HAVE A DISCUSSION 5919 04:39:35,525 --> 04:39:39,462 AND ONE QUESTION IS THIS A 5920 04:39:39,529 --> 04:39:39,996 GENERALIZABLE MODEL GOING 5921 04:39:40,063 --> 04:39:50,206 FORWARD. 5922 04:39:56,513 --> 04:39:59,182 >> IF THERE'S QUESTIONS FROM THE 5923 04:39:59,249 --> 04:40:02,118 AUDIENCE, COME UP TO THE 5924 04:40:02,185 --> 04:40:03,486 MICROPHONE. 5925 04:40:03,553 --> 04:40:07,790 LOSE, GO AHEAD. 5926 04:40:07,857 --> 04:40:18,268 >> I THINK THE VENTURE 5927 04:40:21,004 --> 04:40:22,138 PHILANTHROPY MODEL IS INSPIRED 5928 04:40:22,205 --> 04:40:31,814 AND THE CYSTIC FIBROSIS MODEL IS 5929 04:40:31,881 --> 04:40:35,585 A SUCCESS. 5930 04:40:35,652 --> 04:40:38,388 THE PATIENT GROUP PHILANTHROPY 5931 04:40:38,454 --> 04:40:42,926 THE GOAL IS TO BRING BETTER AND 5932 04:40:42,992 --> 04:40:43,493 NEWER. 5933 04:40:43,560 --> 04:40:45,395 IT'S ALWAYS AN INCREMENTAL 5934 04:40:45,461 --> 04:40:47,730 PROCESS AND SAY YOU INVESTED AND 5935 04:40:47,797 --> 04:40:50,133 HAVE SOME THERAPY BRINGING IN 5936 04:40:50,200 --> 04:40:52,669 $40 MILLION A YEAR AND THEN YOU 5937 04:40:52,735 --> 04:40:54,537 ARE TRYING TO FUND NEW PROMISING 5938 04:40:54,604 --> 04:40:56,139 THERAPIES AND THERE'S ONE THAT 5939 04:40:56,206 --> 04:41:01,744 MAY DIRECTLY COMPETITOR ONE 5940 04:41:01,811 --> 04:41:03,780 MAKING MONEY FOR YOU NOW. 5941 04:41:03,846 --> 04:41:06,716 WOULD YOU BE JUST AS WILLING TO 5942 04:41:06,783 --> 04:41:09,385 FUND THIS COMPETING THERAPY. 5943 04:41:09,452 --> 04:41:11,788 AND IS THERE SOME SORT OF 5944 04:41:11,854 --> 04:41:13,156 CONFLICT OF INTEREST THAT MAY BE 5945 04:41:13,223 --> 04:41:14,624 THERE AND SOME MECHANISM TO TRY 5946 04:41:14,691 --> 04:41:16,292 TO ELIMINATE THAT? 5947 04:41:16,359 --> 04:41:18,595 >> I'M HAPPY TO HANDLE THAT. 5948 04:41:18,661 --> 04:41:20,196 I THINK THAT'S WHY IT'S 5949 04:41:20,263 --> 04:41:25,468 IMPORTANT TO CONSIDER DIVESTING 5950 04:41:25,535 --> 04:41:29,939 YOUR INTEREST IF YOU CAN. 5951 04:41:30,006 --> 04:41:35,478 USUALLY THEY WANT BIG ROYALTY 5952 04:41:35,545 --> 04:41:35,712 STREAMS. 5953 04:41:35,778 --> 04:41:36,346 THAT'S WHAT THEY DID. 5954 04:41:36,412 --> 04:41:38,348 WE HAD CHALLENGES WITH A SMALLER 5955 04:41:38,414 --> 04:41:39,148 ROYALTY STREAM. 5956 04:41:39,215 --> 04:41:41,784 WE GOT AN OFFER. 5957 04:41:41,851 --> 04:41:44,887 YOU LOSE MONEY AND CLEARLY 5958 04:41:44,954 --> 04:41:46,189 THEY'RE NOT GOING TO GIVE YOU 5959 04:41:46,256 --> 04:41:47,323 WHAT YOU WOULD HAVE GOTTEN. 5960 04:41:47,390 --> 04:41:48,725 THEY'LL GET MONEY UP FRONT. 5961 04:41:48,791 --> 04:41:52,095 AT THAT POINT YOU'RE OUT OF THE 5962 04:41:52,161 --> 04:41:53,863 GAME AND YOU'RE FREE TO FUND 5963 04:41:53,930 --> 04:41:55,698 SOMETHING THAT COMPETES. 5964 04:41:55,765 --> 04:41:57,600 YOU HAVE GOTTEN YOUR MONEY AND 5965 04:41:57,667 --> 04:42:00,136 OUT AND FOR SURE IT'S A CONCERN. 5966 04:42:00,203 --> 04:42:03,806 ONE CONFLICT THAT CAN COME UP 5967 04:42:03,873 --> 04:42:05,742 YOU MAY HAVE TWO INTERESTING 5968 04:42:05,808 --> 04:42:06,075 OPPORTUNITIES. 5969 04:42:06,142 --> 04:42:07,810 ONE A HIGH UNMET NEED. 5970 04:42:07,877 --> 04:42:10,947 THE OTHER ONE MUCH MORE LIKELY 5971 04:42:11,014 --> 04:42:12,515 TO BE FINANCIALLY LUCRATIVE AND 5972 04:42:12,582 --> 04:42:15,485 YOU HAVE TO MAKE TOUGH DECISIONS 5973 04:42:15,551 --> 04:42:18,021 LIKE THAT. 5974 04:42:18,087 --> 04:42:22,825 >> I'LL ASK A SIMILAR QUESTION. 5975 04:42:22,892 --> 04:42:24,427 I'M STEPPING BACK. 5976 04:42:24,494 --> 04:42:25,628 WHAT WERE THE DECISIONS. 5977 04:42:25,695 --> 04:42:29,632 WHAT WERE THE PROS AND CONS YOU 5978 04:42:29,699 --> 04:42:31,301 THOUGHT ABOUT BEFORE THIS WAS A 5979 04:42:31,367 --> 04:42:34,170 MODEL YOU DECIDED THAT THE 5980 04:42:34,237 --> 04:42:35,004 FOUNDATION THE ASSOCIATION 5981 04:42:35,071 --> 04:42:37,340 DECIDED TO PURSUE. 5982 04:42:37,407 --> 04:42:39,542 YOU TALKED NOW WHAT ARE SOME OF 5983 04:42:39,609 --> 04:42:41,044 THE THOUGHTS AFTER YOU ARE 5984 04:42:41,110 --> 04:42:41,344 SUCCESSFUL. 5985 04:42:41,411 --> 04:42:43,179 WHAT WERE THE PROS AND CONS 5986 04:42:43,246 --> 04:42:45,448 GOING INTO IT AND THEN ALSO IF 5987 04:42:45,515 --> 04:42:47,483 YOU CAN JUST FOR THOSE THAT 5988 04:42:47,550 --> 04:42:49,018 AREN'T FAMILIAR WITH THIS DEFINE 5989 04:42:49,085 --> 04:42:50,687 WHAT SOME OF THE TERMS ARE. 5990 04:42:50,753 --> 04:42:52,155 WHAT ARE ROYALTIES. 5991 04:42:52,221 --> 04:42:54,090 WHAT DOES IT MEAN TO DIVEST 5992 04:42:54,157 --> 04:42:54,290 THEM. 5993 04:42:54,357 --> 04:42:55,992 THAT'S A TWO-PART QUESTION FOR 5994 04:42:56,059 --> 04:42:56,359 YOU. 5995 04:42:56,426 --> 04:42:56,693 >> SURE. 5996 04:42:56,759 --> 04:42:58,261 WHEN WE FIRST LAUNCHED THE 5997 04:42:58,328 --> 04:42:59,562 PROGRAM YOU HAVE TO UNDERSTAND 5998 04:42:59,629 --> 04:43:01,964 MDA IS A LEGACY ORGANIZATION AND 5999 04:43:02,031 --> 04:43:03,433 BEEN AROUND A LONG TIME AND 6000 04:43:03,499 --> 04:43:08,237 TENDS TO BE CONSERVATIVE. 6001 04:43:08,304 --> 04:43:09,639 TO BE ABLE TO TALK THROUGH THIS 6002 04:43:09,706 --> 04:43:11,708 NOVEL IDEA WAS A LITTLE BIT 6003 04:43:11,774 --> 04:43:12,008 CHALLENGING. 6004 04:43:12,075 --> 04:43:16,746 THERE WAS LEGITIMATE CONCERNS. 6005 04:43:16,813 --> 04:43:19,482 ONE IS WHAT IS OUR LIABILITY IF 6006 04:43:19,549 --> 04:43:22,552 WE'RE FUNDING THE SPONSOR OF A 6007 04:43:22,618 --> 04:43:23,486 CLINICAL TRIAL AND WE TOOK OUT A 6008 04:43:23,553 --> 04:43:26,289 POLICY TO PROTECT THE 6009 04:43:26,356 --> 04:43:26,622 ORGANIZATION. 6010 04:43:26,689 --> 04:43:28,691 THE OTHER THING TOO IS WE WERE 6011 04:43:28,758 --> 04:43:30,927 CONCERNED ABOUT WHAT WOULD 6012 04:43:30,993 --> 04:43:32,862 HAPPEN WITH WE TOOK AN EQUITY 6013 04:43:32,929 --> 04:43:33,096 STAKE. 6014 04:43:33,162 --> 04:43:36,733 AS A NONPROFIT IF YOU TAKE AN 6015 04:43:36,799 --> 04:43:38,935 EQUITY STAKE YOU HAVE TO VALUE 6016 04:43:39,001 --> 04:43:40,336 EVERY YEAR WHICH CAN BE 6017 04:43:40,403 --> 04:43:42,205 COMPLICATED AND HARD TO DO AND 6018 04:43:42,271 --> 04:43:43,306 YOU THINK OF RESEARCH. 6019 04:43:43,373 --> 04:43:44,941 IT COUNTS ON YOUR BOOKS IF 6020 04:43:45,007 --> 04:43:45,775 YOU'RE FUNDING RESEARCH AS A 6021 04:43:45,842 --> 04:43:47,009 PROGRAM EXPENSE AN IT'S A GOOD 6022 04:43:47,076 --> 04:43:48,611 THING TO PUT MONEY INTO A 6023 04:43:48,678 --> 04:43:49,145 PROGRAM EXPENSE. 6024 04:43:49,212 --> 04:43:51,214 THIS IS AN ASSET THAT MAY OR MAY 6025 04:43:51,280 --> 04:43:53,750 NOT PAY OFF AND MAY GO SOUTH AND 6026 04:43:53,816 --> 04:43:55,284 MAY HAVE TO WRITE DOWN AND THAT 6027 04:43:55,351 --> 04:43:57,520 DOES NOT LOOK GOOD ON YOUR BOOKS 6028 04:43:57,587 --> 04:43:59,288 ESPECIALLY THROUGH A LARGER 6029 04:43:59,355 --> 04:44:01,657 PERCENTAGE OF YOUR MISSION 6030 04:44:01,724 --> 04:44:01,958 INVESTMENT. 6031 04:44:02,024 --> 04:44:04,060 SO EARLY ON WE DECIDED WE WERE 6032 04:44:04,127 --> 04:44:05,962 WILLING TO DO THESE NON-DILUTIVE 6033 04:44:06,028 --> 04:44:07,463 INVESTMENTS BUT NOT TO TAKE AN 6034 04:44:07,530 --> 04:44:08,064 EQUITY STAKE. 6035 04:44:08,131 --> 04:44:15,471 WE MOVED OUR POSITION SINCE THEN 6036 04:44:15,538 --> 04:44:16,606 AND WITH THE UNDERSTANDING OF 6037 04:44:16,672 --> 04:44:17,840 OTHER CHALLENGES. 6038 04:44:17,907 --> 04:44:19,509 YOU STRUGGLE WITH A LOT. 6039 04:44:19,575 --> 04:44:22,178 OUR ACADEMIC INVESTIGATORS 6040 04:44:22,245 --> 04:44:23,479 MULTIMEDIALY SAID WAIT A MINUTE 6041 04:44:23,546 --> 04:44:24,881 YOU'RE GOING TO START GIVING 6042 04:44:24,947 --> 04:44:26,315 MONEY TO COMPANIES WHAT ABOUT 6043 04:44:26,382 --> 04:44:26,482 US? 6044 04:44:26,549 --> 04:44:29,118 IS THAT COMING STRAIGHT OUT OF 6045 04:44:29,185 --> 04:44:29,519 THERE? 6046 04:44:29,585 --> 04:44:31,554 IS A ZERO SUM GAME OR ARE YOU 6047 04:44:31,621 --> 04:44:32,955 MAKING THE PIE BIGGER. 6048 04:44:33,022 --> 04:44:36,058 YOU MAY HAVE CHALLENGES THAT WAY 6049 04:44:36,125 --> 04:44:36,392 TOO. 6050 04:44:36,459 --> 04:44:39,095 THE SECOND HALF WAS DEFINITIONS. 6051 04:44:39,162 --> 04:44:41,764 >> FOR PEOPLE UNFAMILIAR. 6052 04:44:41,831 --> 04:44:46,602 >> I USED THE TERM DILUTIVE AND 6053 04:44:46,669 --> 04:44:47,036 NON-DILUTIVE. 6054 04:44:47,103 --> 04:44:51,474 >> WE DIDN'T HAVE DILUTIVE. 6055 04:44:51,541 --> 04:44:53,009 >> WHAT THAT MEANS IS WHEN YOU 6056 04:44:53,075 --> 04:44:54,877 TAKE AN EQUITY STAKE YOU HAVE A 6057 04:44:54,944 --> 04:44:56,746 PARTIAL OWNERSHIP POSITION IN 6058 04:44:56,813 --> 04:44:58,948 THE COMPANY. 6059 04:44:59,015 --> 04:45:01,284 THAT'S DILUTIVE THE COMPANY GAVE 6060 04:45:01,350 --> 04:45:07,356 UM UP SOME VALUE TO YOU AND 6061 04:45:07,423 --> 04:45:09,592 EVERYONE GETS MORE DILUTIVE IF 6062 04:45:09,659 --> 04:45:11,761 THERE'S MORE PEOPLE IN THE 6063 04:45:11,828 --> 04:45:16,199 SPACE. 6064 04:45:16,265 --> 04:45:19,769 NON-DILUTIVE WE ONLY GET A 6065 04:45:19,836 --> 04:45:21,771 PAYBACK BASED ON ROYALTIES. 6066 04:45:21,838 --> 04:45:24,006 ROYALTIES ARE THE REVENUE YOU 6067 04:45:24,073 --> 04:45:29,779 RECEIVE FROM AN APPROVED DRUG. 6068 04:45:29,846 --> 04:45:32,181 IT REQUIRED THAT IF IT HADN'T 6069 04:45:32,248 --> 04:45:33,983 BEEN APPROVED WE WOULDN'T HAVE 6070 04:45:34,050 --> 04:45:34,450 GOTTEN ANYTHING. 6071 04:45:34,517 --> 04:45:37,019 FOR US WE WERE MAKING GRANTS 6072 04:45:37,086 --> 04:45:37,854 ALREADY AND THIS WAS THE 6073 04:45:37,920 --> 04:45:39,155 POTENTIAL TO MAKE A GRANT WITH A 6074 04:45:39,222 --> 04:45:45,061 PAYOFF ATTACHED. 6075 04:45:45,127 --> 04:45:47,129 >> YOU MENTIONED I THINK YOU 6076 04:45:47,196 --> 04:45:49,065 SAID 15 NONPROFITS INVOLVED. 6077 04:45:49,131 --> 04:45:53,169 THERE WERE CERTAINLY LOTS OF 6078 04:45:53,236 --> 04:45:53,536 FUNDING SOURCES. 6079 04:45:53,603 --> 04:45:56,572 AND ONE QUESTION I HAVE FOR YOU 6080 04:45:56,639 --> 04:45:58,774 IS WHAT DIFFERENT ROLES DO THE 6081 04:45:58,841 --> 04:46:00,309 NONPROFITS PLAY. 6082 04:46:00,376 --> 04:46:04,213 IS IT THAT THEY ALL INVESTED 6083 04:46:04,280 --> 04:46:05,748 EARLY IN BASIC SCIENCE THAT 6084 04:46:05,815 --> 04:46:09,418 RESULT IN THIS DID TAY PLAY 6085 04:46:09,485 --> 04:46:11,354 DIFFERENT ROLES IN HELPING 6086 04:46:11,420 --> 04:46:12,688 CLINICAL TRIAL RECRUITMENT 6087 04:46:12,755 --> 04:46:13,689 VERSUS FUNDING EARLY RESEARCH? 6088 04:46:13,756 --> 04:46:17,360 >> I CAN PROBABLY SAY THEY HAD 6089 04:46:17,426 --> 04:46:21,197 ALL ROLES, ALL OF THOSE. 6090 04:46:21,264 --> 04:46:23,499 THE MOST RECENT VENTURE CONTRACT 6091 04:46:23,566 --> 04:46:27,169 WAS EMA TO THE PEDIATRIC 6092 04:46:27,236 --> 04:46:29,071 INVESTIGATION PLAN FOR 6093 04:46:29,138 --> 04:46:29,338 EXPANSION. 6094 04:46:29,405 --> 04:46:32,308 ALL THE TRIALS WERE 4 TO 6095 04:46:32,375 --> 04:46:35,278 7-YEAR-OLDS AND DID UP TO 6096 04:46:35,344 --> 04:46:37,446 17-YEAR-OLDS AND THOSE CROSSING 6097 04:46:37,513 --> 04:46:48,057 FROM PREDNISONE TO FEMORLONE AND 6098 04:46:54,163 --> 04:46:56,999 IT WASN'T JUST THE ECONOMIC 6099 04:46:57,066 --> 04:46:57,333 RELATIONSHIP. 6100 04:46:57,400 --> 04:46:58,768 THERE WERE PARENTS THAT WERE ON 6101 04:46:58,834 --> 04:47:04,407 THE LEADERSHIP TEAM THROUGH THE 6102 04:47:04,473 --> 04:47:05,341 ENTIRE PROCESS INCLUDING PICKING 6103 04:47:05,408 --> 04:47:08,778 THE PRIMARY OUTCOME AND 6104 04:47:08,844 --> 04:47:10,112 SELECTING SITES. 6105 04:47:10,179 --> 04:47:11,681 WITH COVID WE WERE SLOWING DOWN 6106 04:47:11,747 --> 04:47:14,116 AND ONE PARENT SAID LET'S DO 6107 04:47:14,183 --> 04:47:14,350 GREASE. 6108 04:47:14,417 --> 04:47:15,217 THEY WEREN'T EXPERIENCED IN 6109 04:47:15,284 --> 04:47:16,852 TRIALS BUT UNDER OUR MODEL WE 6110 04:47:16,919 --> 04:47:18,154 WERE WILLING TO TAKE THAT RISK 6111 04:47:18,220 --> 04:47:21,891 TO TRAIN THE SITE AND THEY ENDED 6112 04:47:21,958 --> 04:47:26,629 UP ATOP RECRUITER AND AUDIT AND 6113 04:47:26,696 --> 04:47:28,764 INSPECTED AND DID GREAT. 6114 04:47:28,831 --> 04:47:30,199 >> THERE'S DIFFERENT ROLES TO 6115 04:47:30,266 --> 04:47:30,800 PLAY. 6116 04:47:30,866 --> 04:47:31,734 DIFFERENT GROUPS CAN BRING 6117 04:47:31,801 --> 04:47:32,468 DIFFERENT THINGS TO THE TABLE 6118 04:47:32,535 --> 04:47:34,537 WHICH IS IMPORTANT TO WALK AWAY 6119 04:47:34,604 --> 04:47:35,004 WITH. 6120 04:47:35,071 --> 04:47:36,505 NOT EVERY GROUP IS COMFORTABLE 6121 04:47:36,572 --> 04:47:39,976 WITH MAKING THAT TYPE OF AN 6122 04:47:40,042 --> 04:47:42,678 INVESTMENT FINANCIALLY OR LONG 6123 04:47:42,745 --> 04:47:42,979 TERM. 6124 04:47:43,045 --> 04:47:44,547 THEY MAY SAY WE HAVE PATIENTS AN 6125 04:47:44,614 --> 04:47:46,082 CAN OPEN THE SITE. 6126 04:47:46,148 --> 04:47:47,116 WE'RE CLOSING ON THE LAST 6127 04:47:47,183 --> 04:47:47,350 MINUTE. 6128 04:47:47,416 --> 04:47:51,487 COULD I GET EACH OF YOU TO GIVE 6129 04:47:51,554 --> 04:47:54,890 US YOUR CLOSING THOUGHTS ON IS 6130 04:47:54,957 --> 04:47:57,093 THIS A MODEL YOU THINK SHOULD 6131 04:47:57,159 --> 04:48:00,329 MOVE FORWARD AND SHOULD BE USED 6132 04:48:00,396 --> 04:48:01,897 MORE FREQUENTLY? 6133 04:48:01,964 --> 04:48:05,935 >> I THINK THE MODEL WAS USED 6134 04:48:06,002 --> 04:48:09,171 FOR RIVERAGEN WORKED WELL AND IT 6135 04:48:09,238 --> 04:48:12,742 MADE SENSE TO DO IN THIS CASE 6136 04:48:12,808 --> 04:48:14,644 BECAUSE STEROIDS WEREN'T SEXY 6137 04:48:14,710 --> 04:48:16,112 DRUGS AND AN UNDERSTAND YOU 6138 04:48:16,178 --> 04:48:18,014 WEREN'T GETTING A LOT OF 6139 04:48:18,080 --> 04:48:20,783 INTEREST FROM YOUR TYPICAL V.C.s 6140 04:48:20,850 --> 04:48:23,519 AND INVESTORS BUT STEROIDS WERE 6141 04:48:23,586 --> 04:48:25,388 EFFECTIVE BUT LIMITED BY THE 6142 04:48:25,454 --> 04:48:26,489 SIDE EFFECT AND THE COMMUNITY 6143 04:48:26,555 --> 04:48:27,757 RECOGNIZED IT WAS A NEED AND 6144 04:48:27,823 --> 04:48:29,759 WORTH DOING. 6145 04:48:29,825 --> 04:48:32,895 FROM THAT SENSE IT WORKED WELL 6146 04:48:32,962 --> 04:48:34,430 TO HAVE THE NONPROFIT 6147 04:48:34,497 --> 04:48:35,031 INVESTMENT. 6148 04:48:35,097 --> 04:48:40,736 >> I'LL ECHO WHAT SHARON SAID. 6149 04:48:40,803 --> 04:48:43,005 AS WE HEARD VENTURE PHILANTHROPY 6150 04:48:43,072 --> 04:48:44,607 NOT A NEW CONCEPT BUT TAKING IT 6151 04:48:44,674 --> 04:48:46,809 TO THE EXTENT WE DID IS PROBABLY 6152 04:48:46,876 --> 04:48:49,245 NOVEL TO DRUG APPROVAL AND 6153 04:48:49,311 --> 04:48:50,980 KEEPING IT IN THE ACADEMIC 6154 04:48:51,047 --> 04:48:52,915 PUBLIC-PRIVATE SPACE WITH NO 6155 04:48:52,982 --> 04:48:53,916 DILUTIVE FUNDING OR INVESTMENT. 6156 04:48:53,983 --> 04:48:55,718 IF YOU HAVE THE INFRASTRUCTURE 6157 04:48:55,785 --> 04:49:01,323 FOR THAT YOU NEED THE EXISTING 6158 04:49:01,390 --> 04:49:08,330 INFRASTRUCTURE, WHICH NCATS AND 6159 04:49:08,397 --> 04:49:11,767 MUSCULAR DYSTROPHY ARE 6160 04:49:11,834 --> 04:49:12,068 SUPPORTING. 6161 04:49:12,134 --> 04:49:13,803 >> AND YOU NEED TO PARTNER IN 6162 04:49:13,869 --> 04:49:16,138 THE DRUG TO GET IT TO THE 6163 04:49:16,205 --> 04:49:16,972 APPROVAL COMMERCIALIZATION 6164 04:49:17,039 --> 04:49:17,339 PHASE. 6165 04:49:17,406 --> 04:49:19,742 IT GOT REALLY FOR BEFORE YOU DO 6166 04:49:19,809 --> 04:49:23,112 THAT. 6167 04:49:23,179 --> 04:49:24,180 >> WONDERFUL. 6168 04:49:24,246 --> 04:49:26,048 I KNOW THIS WAS SHORT AND SWEET. 6169 04:49:26,115 --> 04:49:28,451 THANK YOU FOR SHARING THE 6170 04:49:28,517 --> 04:49:29,819 SUCCESS STORY AND WE WILL MOVE 6171 04:49:29,885 --> 04:49:29,985 ON. 6172 04:49:30,052 --> 04:49:40,229 THANK YOU. 6173 04:50:23,272 --> 04:50:24,940 >> ALL RIGHT, NOW WE'RE GOING TO 6174 04:50:25,007 --> 04:50:26,642 GET STARTED WITH SESSION 2. 6175 04:50:26,709 --> 04:50:29,645 I'D LIKE TO INTRODUCE OUR 6176 04:50:29,712 --> 04:50:32,748 MODERATOR PJ BROOKS OUR DEPUTY 6177 04:50:32,815 --> 04:50:36,452 DIRECTOR AT THE DIVISION OF RAFR 6178 04:50:36,519 --> 04:50:37,453 DISEASE INNOVATION AT NCATS AND 6179 04:50:37,520 --> 04:50:38,821 WORKS ON PROJECTS INCLUDING ACT 6180 04:50:38,888 --> 04:50:41,524 THAEGZ WORKING GROUP COORDINATOR 6181 04:50:41,590 --> 04:50:43,492 NOR NIH COMMON FUND PROGRAM AND 6182 04:50:43,559 --> 04:50:45,327 SOMATIC CELL EDITING AND THE 6183 04:50:45,394 --> 04:50:47,830 VECTOR GENE PILOT PROGRAM. 6184 04:50:47,897 --> 04:50:53,836 ALSO THE CO-CHAIR OF THE BESPOKE 6185 04:50:53,903 --> 04:50:55,404 GENE THERAPY CONSORTIUM. 6186 04:50:55,471 --> 04:51:05,548 >> 6187 04:51:09,552 --> 04:51:10,886 >> I'LL GIVE A BRIEF 6188 04:51:10,953 --> 04:51:12,488 INTRODUCTION AND THEN INTRODUCE 6189 04:51:12,555 --> 04:51:12,855 SPEAKERS. 6190 04:51:12,922 --> 04:51:15,024 AT THE BASIC LEVEL WHAT I'VE 6191 04:51:15,090 --> 04:51:19,328 DRAWN IS A SIMPLIFIED CELL AND 6192 04:51:19,395 --> 04:51:21,330 NUCLEUS AND CHROMOSOME AND A 6193 04:51:21,397 --> 04:51:23,465 GENE IS A STRETCH OF THAT THAT 6194 04:51:23,532 --> 04:51:25,968 CONTAINS INSTRUCTIONS TO MAKE A 6195 04:51:26,035 --> 04:51:27,837 PROTEIN THAT DOES SOME FUNCTION 6196 04:51:27,903 --> 04:51:31,240 IN THE CELL. 6197 04:51:31,307 --> 04:51:39,114 SO PROTEINS ARE THINGS LIKE 6198 04:51:39,181 --> 04:51:40,749 HEMOGLOBIN, COLLAGEN THAT KEEPS 6199 04:51:40,816 --> 04:51:42,885 SKIN AND CELLS TOGETHER, ENZYMES 6200 04:51:42,952 --> 04:51:45,654 THAT DEGRADE CELLULAR 6201 04:51:45,721 --> 04:51:46,488 BYPRODUCTS, ETCETERA. 6202 04:51:46,555 --> 04:51:47,489 THAT'S ESSENTIALLY WHAT AGAINST 6203 04:51:47,556 --> 04:51:57,933 ARE AND HOW THEY WORK. 6204 04:51:58,534 --> 04:51:59,935 THERE'S A MUTATION IN THE GENE. 6205 04:52:00,002 --> 04:52:05,407 I'M SHOWING ONE GONE HERE BUT AS 6206 04:52:05,474 --> 04:52:06,742 WE HEARD EARLIER WE HAVE TWO 6207 04:52:06,809 --> 04:52:07,977 COPIES BUT WE'LL GO WITH ONE. 6208 04:52:08,043 --> 04:52:13,282 THERE'S A MUTATION IN THE GEN BY 6209 04:52:13,349 --> 04:52:19,488 THIS RED DELTA AND END UP WITH 6210 04:52:19,555 --> 04:52:24,460 NO PROTEIN AND IT LEADS TO 6211 04:52:24,526 --> 04:52:25,160 DISEASE. 6212 04:52:25,227 --> 04:52:26,028 SOME PROTEINS HAVE SPECIFIC 6213 04:52:26,095 --> 04:52:27,930 ROLES IN SPECIFIC CELL TYPES AND 6214 04:52:27,997 --> 04:52:31,500 HOW YOU GET THE CELL TYPE 6215 04:52:31,567 --> 04:52:41,977 SPECIFIC ABNORMALITIES. 6216 04:52:46,282 --> 04:52:47,316 THE FUNDAMENTAL PROBLEM IS THE 6217 04:52:47,383 --> 04:52:49,618 SAME THE GENE MUTATION THAT 6218 04:52:49,685 --> 04:52:50,753 RESULTS IN THIS FUNCTION NOT 6219 04:52:50,819 --> 04:52:51,820 GETTING DONE. 6220 04:52:51,887 --> 04:52:53,622 THE GENE MAY BE DIFFERENT, THE 6221 04:52:53,689 --> 04:52:56,125 PROTEIN MAY BE DIFFERENT BUT THE 6222 04:52:56,191 --> 04:52:58,327 FUNDAMENT PROBLEM IS THE SAME. 6223 04:52:58,394 --> 04:52:59,828 THE GOOD NEWS IS THE SOLUTIONS 6224 04:52:59,895 --> 04:53:10,205 ARE THE STATEMENT. 6225 04:53:15,010 --> 04:53:17,313 WE PUT A COPY IN THE VIRUS AND 6226 04:53:17,379 --> 04:53:20,249 IT DOESN'T HAVE TO REPLACE THE 6227 04:53:20,316 --> 04:53:21,917 MUTANT GENE OR GO IN THE SAME 6228 04:53:21,984 --> 04:53:24,153 PLACE BUT HAS TO BE ABLE TO 6229 04:53:24,219 --> 04:53:26,121 ENCODE AND MAKE THE PROTEIN AND 6230 04:53:26,188 --> 04:53:33,896 CARRY OUT THE FUNCTION AND TREAT 6231 04:53:33,963 --> 04:53:35,130 THE DISEASE AT THE RIGHT TIME 6232 04:53:35,197 --> 04:53:36,665 AND DISEASE DEVELOPMENT AN 6233 04:53:36,732 --> 04:53:38,567 THERE'S DOMINANT DISEASES WHERE 6234 04:53:38,634 --> 04:53:41,103 THE PROTEINS BECOMES TOXIC AND 6235 04:53:41,170 --> 04:53:45,207 GENE THERAPY IS NOT SO GOOD FOR 6236 04:53:45,274 --> 04:53:50,312 THAT BUT FROM THE STANDPOINT OF 6237 04:53:50,379 --> 04:53:51,480 THE CONFERENCE THAT'S WHAT 6238 04:53:51,547 --> 04:53:54,683 ESSENTIALLY WHAT IT IS AN GENE 6239 04:53:54,750 --> 04:53:58,287 EDITING, WHAT WE DO IS DELIVER 6240 04:53:58,354 --> 04:53:59,822 ENZYMES THAT GO INTO THE CELL 6241 04:53:59,888 --> 04:54:01,957 AND ACTUALLY CORRECT THE 6242 04:54:02,024 --> 04:54:03,492 MUTATION, CUTS AND PASTE AND 6243 04:54:03,559 --> 04:54:04,960 FIXES THE MUTATION. 6244 04:54:05,027 --> 04:54:12,901 NOW YOU HAVE A NORMAL MESSENGER 6245 04:54:12,968 --> 04:54:13,235 RA 6246 04:54:13,302 --> 04:54:18,874 RNA AND CARRY IT OUT IN DISEASE 6247 04:54:18,941 --> 04:54:20,309 DEVELOPMENT IT SHOULD HAVE AN 6248 04:54:20,376 --> 04:54:22,244 EFFECT AND IT'S GOOD FOR 6249 04:54:22,311 --> 04:54:25,114 RECESSIVE AND DOMINANT DISEASES. 6250 04:54:25,180 --> 04:54:27,449 BOTH GENE THERAPY AND GENE 6251 04:54:27,516 --> 04:54:29,918 EDITING HAVE THE SAME EFFECT. 6252 04:54:29,985 --> 04:54:30,986 THEY FIX THE PROBLEM. 6253 04:54:31,053 --> 04:54:36,091 THEY DO IT IN DIFFERENT WAYS. 6254 04:54:36,158 --> 04:54:38,227 ONE INVOLVING PASTING AND 6255 04:54:38,293 --> 04:54:40,295 EDITING HAS IMPLICATIONS FOR THE 6256 04:54:40,362 --> 04:54:41,930 REGULATORY PATHWAY WE'LL HEAR 6257 04:54:41,997 --> 04:54:48,037 ABOUT LATER. 6258 04:54:48,103 --> 04:54:49,738 THERE'S TWO FLAVORS. 6259 04:54:49,805 --> 04:54:51,040 YOU CAN DELIVER THEM DIRECTLY 6260 04:54:51,106 --> 04:54:53,909 INTO THE BODY AND THAT'S CALLED 6261 04:54:53,976 --> 04:54:59,882 IN VIVO. 6262 04:54:59,948 --> 04:55:02,451 ONE CHALLENGE IS TO FIND 6263 04:55:02,518 --> 04:55:04,420 DELIVERY REAGENT GOES TO THE 6264 04:55:04,486 --> 04:55:07,456 TISSUES AND CELLS WE NEED TO 6265 04:55:07,523 --> 04:55:08,657 TREAT. 6266 04:55:08,724 --> 04:55:10,826 THAT'S THE GOAL OF THAT TARGET 6267 04:55:10,893 --> 04:55:13,162 PRIZE COMPETITION DOMINIQUE 6268 04:55:13,228 --> 04:55:15,130 MENTIONED EARLIER AND EX VIVO 6269 04:55:15,197 --> 04:55:16,632 GENE THERAPY. 6270 04:55:16,698 --> 04:55:20,869 YOU TAKE CELLS FROM THE PERSON, 6271 04:55:20,936 --> 04:55:21,770 TYPICALLY STEM CELLS AND DO THE 6272 04:55:21,837 --> 04:55:24,139 GONE CORRECTION AND PUT THEM 6273 04:55:24,206 --> 04:55:25,040 BACK. 6274 04:55:25,107 --> 04:55:27,142 THIS LOOKS ALMOST SIMPLE. 6275 04:55:27,209 --> 04:55:28,177 IN REALITY IT'S VERY DIFFICULT 6276 04:55:28,243 --> 04:55:31,313 AND A BIG PROBLEM OF IT IS HOW 6277 04:55:31,380 --> 04:55:33,115 DO YOU DELIVER ENOUGH CELLS, 6278 04:55:33,182 --> 04:55:34,716 ENOUGH GENOME EDITORS TO CELLS 6279 04:55:34,783 --> 04:55:35,517 AND TISSUES AT THE RIGHT TIME 6280 04:55:35,584 --> 04:55:45,861 AND DEVELOPMENT. 6281 04:56:02,144 --> 04:56:06,915 AND THE REG H REGULATORY PATH IS 6282 04:56:06,982 --> 04:56:07,549 REMARK 6283 04:56:07,616 --> 04:56:07,850 REMARKABLE. 6284 04:56:07,916 --> 04:56:10,552 WE'LL BE TALKING ABOUT THROW 6285 04:56:10,619 --> 04:56:13,155 APPROVED THERAPIES AND EDITINGS 6286 04:56:13,222 --> 04:56:21,096 APPROVED IN THE LAST YEAR. 6287 04:56:21,163 --> 04:56:25,200 SO WE'LL BE HEARING FROM FDA 6288 04:56:25,267 --> 04:56:26,568 REPRESENTATIVE WHO IS A SUPER 6289 04:56:26,635 --> 04:56:30,606 OFFICE DIRECTOR OF THE OFFICE OF 6290 04:56:30,672 --> 04:56:33,375 THERAPEUTIC PRODUCTS AND SHE'LL 6291 04:56:33,442 --> 04:56:35,410 TALK ABOUT AN FDA RARE DISEASE 6292 04:56:35,477 --> 04:56:39,047 GENE THERAPY INITIATIVE AN HEAR 6293 04:56:39,114 --> 04:56:42,317 ABOUT THE APPROVALS FIRST IS 6294 04:56:42,384 --> 04:56:52,928 GENE THERAPY FOR PATIENTS WITH 6295 04:56:57,566 --> 04:57:03,205 ADRENOLEUKODYSTROPHY BY FLORYN 6296 04:57:03,272 --> 04:57:08,810 EICHLER AND HERE FROM PATIENT 6297 04:57:08,877 --> 04:57:17,386 WITH SICKLE CELL DISEASE BY 6298 04:57:17,452 --> 04:57:22,124 ALEXIS LEONARD FIRST IS NICOLE 6299 04:57:22,191 --> 04:57:32,034 VERDUN ON HER FIRST TALK. 6300 04:57:32,100 --> 04:57:33,001 >> THANK YOU. 6301 04:57:33,068 --> 04:57:34,269 WHILE THEY'RE PULLING THAT UP I 6302 04:57:34,336 --> 04:57:35,938 WANT TO SAY HOW EXCITED I AM TO 6303 04:57:36,004 --> 04:57:36,572 BE HERE. 6304 04:57:36,638 --> 04:57:39,174 IT'S BEEN GREAT TO HEAR SOME OF 6305 04:57:39,241 --> 04:57:44,947 THE CONVERSATION TODAY AND LOOK 6306 04:57:45,013 --> 04:57:47,382 TO DO OUR PART AT FDA TO TRY TO 6307 04:57:47,449 --> 04:57:51,153 MOVE THE FIELD FORWARD IN A 6308 04:57:51,220 --> 04:57:52,454 MEANINGFUL WAY. 6309 04:57:52,521 --> 04:57:55,958 I'M NICOLE VERDUNOFF OF 6310 04:57:56,024 --> 04:57:56,658 THERAPEUTIC TRACTS. 6311 04:57:56,725 --> 04:58:00,095 I'M HERE TO TALK ABOUT SOME OF 6312 04:58:00,162 --> 04:58:02,764 THE GENE THERAPY INITIATIVES WE 6313 04:58:02,831 --> 04:58:06,034 HAVE AT FDA AND FOR AWARENESS, 6314 04:58:06,101 --> 04:58:07,069 SOME OF THE THINGS WE'RE TRYING 6315 04:58:07,135 --> 04:58:17,613 TO DO TO ADVANCE THE FIELD. 6316 04:58:19,381 --> 04:58:21,683 THE IMPORTANCE OF THERAPIES FOR 6317 04:58:21,750 --> 04:58:23,485 DISORDERS RARE IN NATURE IS 6318 04:58:23,552 --> 04:58:25,420 EXTREMELY IMPORTANT TO BE ABLE 6319 04:58:25,487 --> 04:58:27,889 TO OFFER PATIENTS THERAPIES 6320 04:58:27,956 --> 04:58:32,427 WHERE THERE'S SIGNIFICANT IN MET 6321 04:58:32,494 --> 04:58:32,628 NEED. 6322 04:58:32,694 --> 04:58:34,129 REALLY OUT OF THOUSANDS OF 6323 04:58:34,196 --> 04:58:35,731 ACQUIRED AND RARE DISEASES 6324 04:58:35,797 --> 04:58:38,066 THERE'S HUNDREDS OF DISORDERS 6325 04:58:38,133 --> 04:58:43,272 AFFECTING 1 TO THOUSANDS PER 6326 04:58:43,338 --> 04:58:45,240 YEAR THAT COULD BE ADDRESSED BY 6327 04:58:45,307 --> 04:58:45,507 THERAPIES. 6328 04:58:45,574 --> 04:58:47,943 ADDRESSING MOLECULAR DEFECTS MAY 6329 04:58:48,010 --> 04:58:50,212 REDUCE MORE COMMON DISEASES TO 6330 04:58:50,279 --> 04:58:51,580 RARE DISEASES AND THAT'S THE 6331 04:58:51,647 --> 04:58:53,148 OVER ALL GOAL. 6332 04:58:53,215 --> 04:58:55,350 SO THE OFFICE OF THERAPEUTIC 6333 04:58:55,417 --> 04:58:58,053 PRODUCTS IS A FAIRLY NEW OFFICE. 6334 04:58:58,120 --> 04:58:59,488 THE SUPER OFFICE WAS CREATED 6335 04:58:59,554 --> 04:59:04,293 ABOUT A YEAR AGO NOW AND IT WAS 6336 04:59:04,359 --> 04:59:07,329 TO TRY TO ADDRESS THE 6337 04:59:07,396 --> 04:59:09,564 SIGNIFICANT INCREASE IN THIS 6338 04:59:09,631 --> 04:59:11,133 AREA WHICH IS QUITE EXCITING. 6339 04:59:11,199 --> 04:59:12,601 INSTEAD OF ONE OFFICE WE NOW 6340 04:59:12,668 --> 04:59:14,970 HAVE SIX OFFICES. 6341 04:59:15,037 --> 04:59:16,571 AND THIS IS AN ORGANIZATIONAL 6342 04:59:16,638 --> 04:59:18,874 CHART THAT OUTLINES THE OFFICES 6343 04:59:18,940 --> 04:59:23,845 THAT WE CURRENTLY HAVE. 6344 04:59:23,912 --> 04:59:25,814 AND SO WE NOW HAVE THEM 6345 04:59:25,881 --> 04:59:27,049 SPECIALTY DRIVEN. 6346 04:59:27,115 --> 04:59:29,017 WE HAVE AN OFFICE FOR GENE 6347 04:59:29,084 --> 04:59:30,185 THERAPY FOR THE CHEMISTRY 6348 04:59:30,252 --> 04:59:31,286 MANUFACTURING AND CONTROL. 6349 04:59:31,353 --> 04:59:34,489 WE HAVE OFFICE OF CELLULAR 6350 04:59:34,556 --> 04:59:37,726 THERAPY AND OFFICE PLASMA 6351 04:59:37,793 --> 04:59:41,697 THERAPEUTICS, CMS AND OFFICE OF 6352 04:59:41,763 --> 04:59:42,798 CLINICAL EVALUATION WHICH IS THE 6353 04:59:42,864 --> 04:59:44,833 PHYSICIAN STAFF AND THEN WE HAVE 6354 04:59:44,900 --> 04:59:47,569 AN OFFICE OF PHARMACOLOGY AND 6355 04:59:47,636 --> 04:59:53,542 TOXICOLOGY AND OFFICE OF REVIEW 6356 04:59:53,608 --> 04:59:56,111 AND I WAS TO INCREASE THE 6357 04:59:56,178 --> 04:59:58,246 WORKFORCE AND THE SPECIALTIES 6358 04:59:58,313 --> 04:59:59,481 NEEDED TO CONTINUE TO SUPPORT 6359 04:59:59,548 --> 05:00:02,084 THIS WORK THAT AS MANY OF YOU 6360 05:00:02,150 --> 05:00:04,619 KNOW IS CHANGING ON A DAY TO DAY 6361 05:00:04,686 --> 05:00:07,489 BASIS IN TERMS OF KEEPING UP 6362 05:00:07,556 --> 05:00:10,058 WITH THE SCIENCE. 6363 05:00:10,125 --> 05:00:11,493 WE ARE EXCITE ABOUT THE NEW 6364 05:00:11,560 --> 05:00:15,464 ORGANIZATION AND THINK IT WILL 6365 05:00:15,530 --> 05:00:16,965 MEET THE NEEDS. 6366 05:00:17,032 --> 05:00:20,335 AS MANY OF YOU KNOW, I WISH THE 6367 05:00:20,402 --> 05:00:22,537 U.S. APPROVED THERAPIES COULD 6368 05:00:22,604 --> 05:00:25,140 NOT FIT ON ONE SLIDE, THAT'S THE 6369 05:00:25,207 --> 05:00:25,340 GOAL. 6370 05:00:25,407 --> 05:00:26,775 WE HAVE HAD FIVE GENE THERAPIES 6371 05:00:26,842 --> 05:00:32,514 APPROVED IN 2023, FIVE IN 2022 6372 05:00:32,581 --> 05:00:34,483 AND WE HOPE TO EXPONENTIALLY 6373 05:00:34,549 --> 05:00:35,484 INCREASE THE NUMBER OF GENE 6374 05:00:35,550 --> 05:00:45,160 THERAPIES APPROVED. 6375 05:00:45,227 --> 05:00:47,028 THERE'S DEVELOPMENT ISSUES WE'RE 6376 05:00:47,095 --> 05:00:49,965 FACED WITH AND DISCUSS 6377 05:00:50,031 --> 05:00:50,799 INTERNALLY. 6378 05:00:50,866 --> 05:00:52,701 IN RARE DISEASE THE NATURAL 6379 05:00:52,768 --> 05:00:54,302 HISTORY OF DISEASE MAY BE 6380 05:00:54,369 --> 05:00:54,803 LIMITED. 6381 05:00:54,870 --> 05:01:01,009 THAT PROVIDES CHALLENGES IN 6382 05:01:01,076 --> 05:01:02,511 SMALL POPULATIONS ESTABLISH 6383 05:01:02,577 --> 05:01:02,778 EFFICACY. 6384 05:01:02,844 --> 05:01:04,980 THE OTHER PIECE OF THIS IS 6385 05:01:05,046 --> 05:01:06,915 THERE'S A LOT OF HETEROGENEITY 6386 05:01:06,982 --> 05:01:10,051 IN DISEASE MANIFESTATIONS. 6387 05:01:10,118 --> 05:01:12,354 AND SO WITHIN EVEN A CERTAIN AGE 6388 05:01:12,421 --> 05:01:14,022 GROUP THERE MAY BE DIFFERENCES 6389 05:01:14,089 --> 05:01:16,291 IN TERMS OF HOW A DISEASE 6390 05:01:16,358 --> 05:01:16,558 MANIFESTS. 6391 05:01:16,625 --> 05:01:18,593 THE TIME COURSE OF ILLNESS CAN 6392 05:01:18,660 --> 05:01:21,430 BE PROLONGED AND PROTECTIVE IN 6393 05:01:21,496 --> 05:01:23,198 SOME DISEASES. 6394 05:01:23,265 --> 05:01:26,535 AND DISEASE MANIFESTATIONS CAN 6395 05:01:26,601 --> 05:01:26,935 BE IRREVERSIBLE. 6396 05:01:27,002 --> 05:01:30,172 HOW DO YOU FIT THEM INTO A 6397 05:01:30,238 --> 05:01:31,139 REGULATORY PARADIGM? 6398 05:01:31,206 --> 05:01:33,708 SO AT FDA, THINGS WE'RE WORKING 6399 05:01:33,775 --> 05:01:35,377 TO DO IS TO MORE CLEARLY DEFINE 6400 05:01:35,444 --> 05:01:37,746 THE USE OF ACCELERATED APPROVAL 6401 05:01:37,813 --> 05:01:39,080 FOR GENE THERAPY. 6402 05:01:39,147 --> 05:01:39,648 I'LL TALK A LITTLE BIT MORE 6403 05:01:39,714 --> 05:01:43,485 ABOUT THAT. 6404 05:01:43,552 --> 05:01:47,489 IN ADDITION WE'VE BEEN EXPLORING 6405 05:01:47,556 --> 05:01:50,091 CONCURRENT SUBMISSION AND 6406 05:01:50,158 --> 05:01:52,160 PRODUCT REVIEW TO HAVE MORE 6407 05:01:52,227 --> 05:01:52,894 COLLABORATION AND COMMUNICATION 6408 05:01:52,961 --> 05:01:54,463 IN THE AREA. 6409 05:01:54,529 --> 05:01:55,630 AND SPECIFICALLY COMMUNICATION 6410 05:01:55,697 --> 05:01:57,766 PILOTS WHICH ALLOW US TO 6411 05:01:57,833 --> 05:02:00,302 INTERACT AND INTERFACE WITH 6412 05:02:00,368 --> 05:02:02,804 PEOPLE THAT ARE DEVELOPING GENE 6413 05:02:02,871 --> 05:02:05,106 THERAPIES WITH A RARE DISEASES 6414 05:02:05,173 --> 05:02:07,008 AT VARIOUS TIME POINTS AND 6415 05:02:07,075 --> 05:02:08,143 SOONER RATHER THAN LATER IS 6416 05:02:08,210 --> 05:02:17,052 REALLY OUR PARADIGM THERE. 6417 05:02:17,118 --> 05:02:19,654 THE SCIENCE INHERENT FACILITATES 6418 05:02:19,721 --> 05:02:24,125 THE USE OF BIOMARKERS AS END 6419 05:02:24,192 --> 05:02:24,359 POINTS. 6420 05:02:24,426 --> 05:02:27,562 THIS IS REASONABLY UNLIKELY TO 6421 05:02:27,629 --> 05:02:29,397 PREDICT CLINICAL OUTCOMES END 6422 05:02:29,464 --> 05:02:29,598 POINT. 6423 05:02:29,664 --> 05:02:30,632 I THINK IN THE AREA WE HAVE TO 6424 05:02:30,699 --> 05:02:34,002 USE THE ACCELERATED APPROVAL 6425 05:02:34,069 --> 05:02:34,202 MORE. 6426 05:02:34,269 --> 05:02:38,206 WE HAVE TO DEVELOP BIOMARKERS WE 6427 05:02:38,273 --> 05:02:42,711 FEEL ARE PREDICTIVE AND USE 6428 05:02:42,777 --> 05:02:44,045 THOSE MORE WITH A COMMITMENT THE 6429 05:02:44,112 --> 05:02:45,647 OTHER SIDE TO CONTINUE TO FOLLOW 6430 05:02:45,714 --> 05:02:47,816 PEOPLE AND MAKE SURE WE ARE 6431 05:02:47,883 --> 05:02:49,317 CONFIRMING CLINICAL BENEFIT. 6432 05:02:49,384 --> 05:02:55,190 I THINK THIS IS AN AREA YOU'LL 6433 05:02:55,257 --> 05:02:56,992 SEE GROWTH IN OUR ABILITY TO DO 6434 05:02:57,058 --> 05:02:57,292 THIS. 6435 05:02:57,359 --> 05:03:03,265 WE'RE TRYING TO LEAN IN AND 6436 05:03:03,331 --> 05:03:06,968 PARTNER TO MAKE THIS HAPPEN. 6437 05:03:07,035 --> 05:03:08,436 AS MUCH AS WE CAN ENZYME 6438 05:03:08,503 --> 05:03:10,672 ACTIVITY LEVELS STRUCTURAL 6439 05:03:10,739 --> 05:03:12,874 PROTEIN LEVELS THAT CAN BE 6440 05:03:12,941 --> 05:03:14,342 MEASURED AND CORRELATE WITH 6441 05:03:14,409 --> 05:03:15,877 CLINICAL END POINTS AND MODEL 6442 05:03:15,944 --> 05:03:17,112 SYSTEMS AND WE'RE TRYING TO 6443 05:03:17,178 --> 05:03:18,914 LEVERAGE THIS MORE TO GET 6444 05:03:18,980 --> 05:03:22,050 THERAPIES TO PATIENTS SOONER 6445 05:03:22,117 --> 05:03:28,290 THAT IS THE GOAL. 6446 05:03:28,356 --> 05:03:29,958 THIS IS THE START PILOT. 6447 05:03:30,025 --> 05:03:31,826 I WON'T GO INTO A LOT OF DETAILS 6448 05:03:31,893 --> 05:03:33,128 BUT SOME OF THE WAYS AT FDA 6449 05:03:33,194 --> 05:03:35,730 WE'RE TRYING TO FOSTER AN 6450 05:03:35,797 --> 05:03:37,532 INCREASE IN COMMUNICATION. 6451 05:03:37,599 --> 05:03:41,436 THIS IS A PILOT OPEN NOW FOR 6452 05:03:41,503 --> 05:03:45,507 SUBMISSIONS BUT COMPANIES ARE 6453 05:03:45,574 --> 05:03:48,610 ABLE TO COME TO US AND ASK FOR 6454 05:03:48,677 --> 05:03:50,145 PARTICIPATION IN THE PILOT AN 6455 05:03:50,211 --> 05:03:53,481 IT'S TO ACCELERATE THE PACE OF 6456 05:03:53,548 --> 05:03:57,319 DEVELOPMENT FOR PRODUCTS WITH A 6457 05:03:57,385 --> 05:03:58,753 SIGNIFICANT UNMET MEDICAL NEED 6458 05:03:58,820 --> 05:04:00,088 AND TREAT A RARE DISEASE. 6459 05:04:00,155 --> 05:04:06,661 IT'S FOR CELLULAR AND GENE 6460 05:04:06,728 --> 05:04:06,928 THERAPIES. 6461 05:04:06,995 --> 05:04:08,296 YOU HAVE TO WORK TOWARD A 6462 05:04:08,363 --> 05:04:09,531 MARKETING APPLICATION AND FOR 6463 05:04:09,598 --> 05:04:11,933 THE PILOT PHASE IT'S A DISEASE 6464 05:04:12,000 --> 05:04:14,369 THAT WILL LIKELY LEAD TO 6465 05:04:14,436 --> 05:04:15,604 SIGNIFICANT DISABILITY OR DEATH 6466 05:04:15,670 --> 05:04:18,239 WITHIN THE FIRST DECADE OF LIFE. 6467 05:04:18,306 --> 05:04:19,874 SO WE ARE TRYING TO FIND 6468 05:04:19,941 --> 05:04:20,809 THERAPIES THAT WE CAN HELP TO 6469 05:04:20,875 --> 05:04:24,379 GET TO THE FINISH LINE FOR 6470 05:04:24,446 --> 05:04:26,881 PATIENTS THAT HAVE THE MOST 6471 05:04:26,948 --> 05:04:27,682 SEVERE DISEASE THAT'S IMPACTING 6472 05:04:27,749 --> 05:04:29,284 LIFE. 6473 05:04:29,351 --> 05:04:34,990 I WILL SAY THIS IS A PILOT BUT 6474 05:04:35,056 --> 05:04:39,961 THIS IS REALLY A PARADIGM WE'RE 6475 05:04:40,028 --> 05:04:42,364 EMBRACING IN FDA FOST ERIC 6476 05:04:42,430 --> 05:04:42,697 COLLABORATION. 6477 05:04:42,764 --> 05:04:53,241 -- FOSTERING COLLABORATION. 6478 05:04:58,847 --> 05:05:00,081 WE HAVE ANOTHER PROGRAM TO 6479 05:05:00,148 --> 05:05:00,782 ADVANCE RARE DISEASE PROGRAMS 6480 05:05:00,849 --> 05:05:03,718 AND PROVIDES A MECHANISM TO 6481 05:05:03,785 --> 05:05:04,819 COLLABORATE THROUGH EFFICACY END 6482 05:05:04,886 --> 05:05:13,261 POINT DEVELOPMENT. 6483 05:05:13,328 --> 05:05:14,996 THE SPONSORS GET INCREASED 6484 05:05:15,063 --> 05:05:15,930 COMMUNICATION WITH FDA AND 6485 05:05:15,997 --> 05:05:17,499 THERE'S A NOVEL END POINT THAT 6486 05:05:17,565 --> 05:05:20,201 IN GENERAL HAS NOT BEEN USED. 6487 05:05:20,268 --> 05:05:23,905 AND THEN YOU STILL HAVE ALL THE 6488 05:05:23,972 --> 05:05:25,740 ADDITIONAL MEETINGS YOU CAN 6489 05:05:25,807 --> 05:05:32,947 REQUEST. 6490 05:05:33,014 --> 05:05:35,150 THERE'S FOUR MEETINGS AROUND AND 6491 05:05:35,216 --> 05:05:44,225 POINT AND DESIGN. 6492 05:05:44,292 --> 05:05:50,398 AND HOW CAN WE USE DATA BEFORE 6493 05:05:50,465 --> 05:06:00,975 IT GETS LEVERAGED FOR ANOTHER 6494 05:06:01,443 --> 05:06:03,478 PRODUCT AND THERE'S A WAY TO 6495 05:06:03,545 --> 05:06:08,450 MOVE THE APPLICATIONS FASTER. 6496 05:06:08,516 --> 05:06:11,186 THE GOAL IS ACCELERATION OF GENE 6497 05:06:11,252 --> 05:06:12,287 THERAPY PRODUCT DEVELOPMENT AND 6498 05:06:12,353 --> 05:06:13,855 AN EXAMPLE WOULD BE WHERE YOU 6499 05:06:13,922 --> 05:06:16,691 HAVE THE SAME AAV BACKBONE BUT 6500 05:06:16,758 --> 05:06:19,294 FOR A DIFFERENT RARE DISEASE. 6501 05:06:19,360 --> 05:06:22,864 THERE'S AN DESIGNATION THAT IS 6502 05:06:22,931 --> 05:06:23,865 THE QUOTE PLATFORM DESIGNATION 6503 05:06:23,932 --> 05:06:27,669 WHERE THE SAME SPONSOR IS NEEDED 6504 05:06:27,736 --> 05:06:30,238 IN ORDER TO HAVE THE SPECIFIC 6505 05:06:30,305 --> 05:06:30,538 DESIGNATION. 6506 05:06:30,605 --> 05:06:32,340 AGAIN, THIS IS SOMETHING WE'RE 6507 05:06:32,407 --> 05:06:33,775 EMBRACING AT FDA AND EVEN IN THE 6508 05:06:33,842 --> 05:06:35,009 ABSENCE OF THAT WE'RE STARTING 6509 05:06:35,076 --> 05:06:39,013 TO HAVE CONVERSATIONS WITH HOW 6510 05:06:39,080 --> 05:06:42,183 CAN WE LEVERAGE NON-CLINICAL 6511 05:06:42,250 --> 05:06:47,021 DATA OR DATA IN ANIMALS IN 6512 05:06:47,088 --> 05:06:50,291 PRODUCTS AND TALK TO US IF THIS 6513 05:06:50,358 --> 05:06:53,461 GOES IT TO YOU AND THE GOAL IS 6514 05:06:53,528 --> 05:06:59,501 TO REDUCE REDUNDANCY AND EXP 6515 05:06:59,567 --> 05:07:02,871 EXPEDITE DEVELOPMENT. 6516 05:07:02,937 --> 05:07:04,205 THIS IS A PILOT PROGRAM WHERE WE 6517 05:07:04,272 --> 05:07:08,309 LOOK FOR GENE THERAPIES AN 6518 05:07:08,376 --> 05:07:10,545 THERE'S DEVELOPMENT GOING ON AT 6519 05:07:10,612 --> 05:07:13,381 FDA AND EMA. 6520 05:07:13,448 --> 05:07:14,649 THE INITIAL PARTICIPATION IS 6521 05:07:14,716 --> 05:07:18,386 ANYONE THAT'S A MEMBER OF THE 6522 05:07:18,453 --> 05:07:21,556 HCH AND HEALTH CANADA IS A 6523 05:07:21,623 --> 05:07:31,533 PARTNER AND THE GOAL IS TO AND 6524 05:07:31,599 --> 05:07:36,237 WE CAN DISCUSS REVIEWS AND ALL 6525 05:07:36,304 --> 05:07:36,871 MEETINGS ARE UNDER 6526 05:07:36,938 --> 05:07:38,039 CONFIDENTIALITY AGREEMENTS BUT 6527 05:07:38,106 --> 05:07:39,073 IT'S TO INCREASE THE EFFICIENCY 6528 05:07:39,140 --> 05:07:42,443 OF THE REGULATORY PROCESS. 6529 05:07:42,510 --> 05:07:45,480 REDUCE TIME AND COSTS FOR 6530 05:07:45,547 --> 05:07:48,716 AGENCIES AND FOR SPONSORS. 6531 05:07:48,783 --> 05:07:53,788 QUICKLY, ANOTHER KEY PIECE TO 6532 05:07:53,855 --> 05:07:54,923 THIS IS COMMUNICATION AND 6533 05:07:54,989 --> 05:07:55,256 COLLABORATION. 6534 05:07:55,323 --> 05:07:59,794 THIS IS AN EXAMPLE OF A WORKSHOP 6535 05:07:59,861 --> 05:08:03,331 WE JUST HELD LAST WEEK AND IT 6536 05:08:03,398 --> 05:08:05,900 WAS WITH LOOKING AT QUALIFYING 6537 05:08:05,967 --> 05:08:07,502 BIOMARKERS FOR RARE DISEASE 6538 05:08:07,569 --> 05:08:09,437 REGULATORY PATHWAYS. 6539 05:08:09,504 --> 05:08:11,906 SPECIFICALLY THERE WAS A LOT OF 6540 05:08:11,973 --> 05:08:15,143 THE CONVERSATION AND DISCUSSION 6541 05:08:15,210 --> 05:08:21,583 AROUND MUCOPOLYSACCHARIDOSIS AND 6542 05:08:21,649 --> 05:08:23,484 THEY HELPED WITH THE PLANNING OF 6543 05:08:23,551 --> 05:08:24,853 THE WORKSHOP AND IT'S AN EXAMPLE 6544 05:08:24,919 --> 05:08:30,291 OF HOW WE CAN ENGAGE MORE AT FDA 6545 05:08:30,358 --> 05:08:34,229 AND WE'RE LOOKING TO DO SEVERAL 6546 05:08:34,295 --> 05:08:36,698 OF THESE THINGS TO INCREASE THE 6547 05:08:36,764 --> 05:08:38,399 COMMUNICATION AND TO HOPEFULLY 6548 05:08:38,466 --> 05:08:42,136 GET THINGS APPROVED QUICKER. 6549 05:08:42,203 --> 05:08:43,705 IN SUMMARY, FDA IS COMMITTED TO 6550 05:08:43,771 --> 05:08:47,475 WORKING TO SUPPORT THE 6551 05:08:47,542 --> 05:08:48,543 DEVELOPMENT OF NOVEL CELL AND 6552 05:08:48,610 --> 05:08:50,178 GENE THERAPIES AND WE LOOK 6553 05:08:50,245 --> 05:08:52,280 FORWARD TO FORGING 6554 05:08:52,347 --> 05:08:55,083 COLLABORATIONS AND PARTNERSHIPS 6555 05:08:55,149 --> 05:08:57,318 AND ADDRESSING RARE CHALLENGES 6556 05:08:57,385 --> 05:09:02,457 AND THERAPEUTICS ARE THE 6557 05:09:02,523 --> 05:09:04,192 FOREFRONT OF OUR GOALS AND 6558 05:09:04,259 --> 05:09:07,161 ADVANCING THERAPY PRODUCTS FOR 6559 05:09:07,228 --> 05:09:09,564 PATIENT WITH UNMET NEED. 6560 05:09:09,631 --> 05:09:14,302 THANK YOU FOR HAVING ME AND AN 6561 05:09:14,369 --> 05:09:15,203 APPRECIATE ALL THE WORK BEING 6562 05:09:15,270 --> 05:09:15,703 DONE IN THIS AREA. 6563 05:09:15,770 --> 05:09:25,947 THANK YOU. 6564 05:09:49,938 --> 05:09:54,008 >> THANK YOU. 6565 05:09:54,075 --> 05:10:04,619 OUR NEXT SPEAKER WILL BE PETER 6566 05:10:11,092 --> 05:10:19,467 MARINKOVICH TALKING ABOUT 6567 05:10:19,534 --> 05:10:20,001 DISTROPHIC EPIDERMOLYSIS 6568 05:10:20,068 --> 05:10:20,668 BULLOSA. 6569 05:10:20,735 --> 05:10:31,145 >> THANK YOU, EVERYBODY. 6570 05:10:40,188 --> 05:10:43,458 I'LL BE TALKING ABOUT THIS 6571 05:10:43,524 --> 05:10:45,326 EPIDERMOLYSIS BULLOSA INHERENT 6572 05:10:45,393 --> 05:10:46,027 DISEASE. 6573 05:10:46,094 --> 05:10:49,063 IT CAN BE A SEVERE DISEASE WHERE 6574 05:10:49,130 --> 05:10:52,700 PATIENTS GET WIDESPREAD 6575 05:10:52,767 --> 05:10:54,535 BLISTERING AS WELL AS AN 6576 05:10:54,602 --> 05:10:58,272 EXAGGERATED TYPE OF SCARRING 6577 05:10:58,339 --> 05:11:00,108 OVER LARGE PARTS OF THEIR BODY 6578 05:11:00,174 --> 05:11:05,079 WHERE THE SKIN IS TRAUMATIZED 6579 05:11:05,146 --> 05:11:07,482 THEY CAN DEVELOP SEVERE 6580 05:11:07,548 --> 05:11:08,649 BLISTERING AND SCARRING. 6581 05:11:08,716 --> 05:11:10,752 WHAT HAPPENS OVER TIME IS 6582 05:11:10,818 --> 05:11:12,053 THERE'S SO MUCH SCARRING THAT 6583 05:11:12,120 --> 05:11:14,088 OCCURS THE HANDS AND FEET CAN 6584 05:11:14,155 --> 05:11:19,494 GET ENCLOSED IN A MITTEN OF SKIN 6585 05:11:19,560 --> 05:11:23,398 AND LOSE THE USE OF HANDS CAN BE 6586 05:11:23,464 --> 05:11:33,641 DISABLING. 6587 05:12:39,340 --> 05:12:47,215 WE LOOK AT THE EPIDERMIS AND IT 6588 05:12:47,281 --> 05:12:50,184 HOLDS THE SKIN TOGETHER AND IT'S 6589 05:12:50,251 --> 05:12:53,454 EXPOSED TO DISRUPTIVE EXTERNAL 6590 05:12:53,521 --> 05:12:54,322 FORCES. 6591 05:12:54,388 --> 05:13:02,230 THE SKIN, EYE MUE COSA AND 6592 05:13:02,296 --> 05:13:04,966 RECTAL MUCOSA CAN GET SCARRING. 6593 05:13:05,032 --> 05:13:11,472 COLLAGEN 7 ASSEMBLES IN THE 6594 05:13:11,539 --> 05:13:15,343 STRUCTURES WHICH GIVE THE SKIN 6595 05:13:15,409 --> 05:13:23,451 THE EXTRA STRENGTH. 6596 05:13:23,518 --> 05:13:31,659 AT STANFORD WE HAD AN EX VIVO 6597 05:13:31,726 --> 05:13:34,529 THERAPY AND I WAS APPROACHED 6598 05:13:34,595 --> 05:13:37,298 WITH THIS NEW IN VIVO GENE 6599 05:13:37,365 --> 05:13:45,473 THERAPY BASED ON THE HSV1 6600 05:13:45,540 --> 05:13:48,509 EPISOMAL VECTOR. 6601 05:13:48,576 --> 05:13:53,047 IT'S GOT A HIGH CAPACITY AND NOT 6602 05:13:53,114 --> 05:13:54,315 IMMUNOSUPPRESSIVE. 6603 05:13:54,382 --> 05:14:01,956 YOU CAP -- CAN GET A COLD SORE 6604 05:14:02,023 --> 05:14:04,892 AND LAY DORMANT TO RE-EMERGE 6605 05:14:04,959 --> 05:14:05,092 LATER. 6606 05:14:05,159 --> 05:14:07,461 AND WE ALSO KNOW NOT BY LACK OF 6607 05:14:07,528 --> 05:14:10,498 TRYING THAT NO ONE'S BEEN ABLE 6608 05:14:10,565 --> 05:14:13,034 TO DEVELOP AN HSV1 VACCINE. 6609 05:14:13,100 --> 05:14:16,337 BOTH ARE REFLECTIVE OF THE IDEA 6610 05:14:16,404 --> 05:14:21,142 THAT HSV1 AND THE SYMBIOSIS WITH 6611 05:14:21,209 --> 05:14:23,511 HUMANS HAS BEEN ABLE TO EVOLVE 6612 05:14:23,578 --> 05:14:25,980 THE ABILITY TO EVADE THE HUMAN 6613 05:14:26,047 --> 05:14:26,714 IMMUNE SYSTEM. 6614 05:14:26,781 --> 05:14:28,716 PEOPLE HAVE WORKED OUT 6615 05:14:28,783 --> 05:14:30,418 MECHANISMS AS TO HOW IT'S DONE 6616 05:14:30,484 --> 05:14:30,818 THIS. 6617 05:14:30,885 --> 05:14:34,021 ONE WELL WORKED OUT IS IT'S 6618 05:14:34,088 --> 05:14:36,724 KNOWN TO BIND TO THE TRANSPORTER 6619 05:14:36,791 --> 05:14:40,094 FOR ANTIGEN PROCESSING TO STOP 6620 05:14:40,161 --> 05:14:42,530 THE IMMUNE PROCESS AT THE VERY 6621 05:14:42,597 --> 05:14:43,431 EARLY STAGE. 6622 05:14:43,497 --> 05:14:47,335 THERE'S PROBABLY OTHER 6623 05:14:47,401 --> 05:14:48,603 MECHANISMS AS WELL AT PLAY. 6624 05:14:48,669 --> 05:14:51,472 UP TO NOW THE FIELD OF IN VIVO 6625 05:14:51,539 --> 05:14:52,907 GENE THERAPY AS WE HEARD FROM 6626 05:14:52,974 --> 05:14:54,208 PREVIOUS TALKS HAS BEEN LIMITED 6627 05:14:54,275 --> 05:15:03,851 BY THE I'D -- IDEA YOU CAN HAVE 6628 05:15:03,918 --> 05:15:05,987 EXTREME IMMUNE REACTIONS BUT 6629 05:15:06,053 --> 05:15:08,356 THIS IS ONE ADVANTAGE OF THE 6630 05:15:08,422 --> 05:15:08,856 VECTOR. 6631 05:15:08,923 --> 05:15:13,094 WE PUT THE TWO COPIES OF THE 6632 05:15:13,160 --> 05:15:14,962 COLLAGEN 7 GENE IN THE VECTOR 6633 05:15:15,029 --> 05:15:17,498 AND IT GETS PUT ON THE SKIN AND 6634 05:15:17,565 --> 05:15:19,200 THEN THE SKIN PRODUCE THE 6635 05:15:19,267 --> 05:15:20,067 COLLAGEN 7. 6636 05:15:20,134 --> 05:15:22,303 IT HAS A FAIRLY LONG HALF LIFE 6637 05:15:22,370 --> 05:15:23,904 OF TWO TO THREE MONTHS IN THE 6638 05:15:23,971 --> 05:15:31,012 SKIN. 6639 05:15:31,078 --> 05:15:36,384 IT FORMS THE ANCHORING FIBRILS 6640 05:15:36,450 --> 05:15:38,719 AND THE SKIN HEALS. 6641 05:15:38,786 --> 05:15:44,558 WE DRIP IT AT INTERVALS ACROSS 6642 05:15:44,625 --> 05:15:53,968 THE WOUND AND COVERED IN SARAN 6643 05:15:54,035 --> 05:15:56,170 WRAP AND THEY HEAL IN ABOUT A 6644 05:15:56,237 --> 05:15:56,370 WEEK. 6645 05:15:56,437 --> 05:15:57,772 YOU CAN SEE THE WOUNDS THAT 6646 05:15:57,838 --> 05:15:59,740 RECEIVE THE DRUG. 6647 05:15:59,807 --> 05:16:05,179 ALL BUT ONE OF THE WOUNDS 6648 05:16:05,246 --> 05:16:12,586 RECEIVED THE DRUG WE ENROLLED 6649 05:16:12,653 --> 05:16:15,489 THE PATIENT AT A LATER STAGE OF 6650 05:16:15,556 --> 05:16:17,825 THE TRIAL AND IT DID HEAL. 6651 05:16:17,892 --> 05:16:23,531 ALL THE WOUNDS DID HEAL AND WHAT 6652 05:16:23,597 --> 05:16:26,334 YOU SEE ON THE PLACEBO TREATED 6653 05:16:26,400 --> 05:16:27,201 WOUNDS IN THE NATURAL HISTORY OF 6654 05:16:27,268 --> 05:16:29,070 THE DISEASE THE WOUNDS START TO 6655 05:16:29,136 --> 05:16:32,340 HEAL AND GET REBUMPED AND THIS 6656 05:16:32,406 --> 05:16:33,174 OPENING AN CLOSING THAT OCCURS. 6657 05:16:33,240 --> 05:16:36,143 YOU CAN SEE THAT WITH THE BLUE 6658 05:16:36,210 --> 05:16:40,281 LINE GOING UP AND DOWN WHEREAS 6659 05:16:40,348 --> 05:16:45,686 THE TREATED WOUNDS TREATED WITH 6660 05:16:45,753 --> 05:16:52,526 THE DRUG THEY HEAL AND STAY 6661 05:16:52,593 --> 05:16:55,329 HEALED AND REFLECTIVE OF THE 6662 05:16:55,396 --> 05:16:58,132 COLLAGEN 7 MAKE IT STRONGER AND 6663 05:16:58,199 --> 05:17:00,034 RESISTANT TO THE BLISTERING AND 6664 05:17:00,101 --> 05:17:01,602 BASICALLY CORRECTS THE DISEASE. 6665 05:17:01,669 --> 05:17:07,341 YOU CAN SEE WHEN YOU SEE PANELS 6666 05:17:07,408 --> 05:17:11,278 LIKE THIS YOU MAY THINK THE 6667 05:17:11,345 --> 05:17:13,147 GREEN LINE IS THE BEST THEY 6668 05:17:13,214 --> 05:17:13,347 HAVE. 6669 05:17:13,414 --> 05:17:15,483 THEY'RE PROBABLY SHOWING US THE 6670 05:17:15,549 --> 05:17:17,284 BEST OF THE ONES THEY DID. 6671 05:17:17,351 --> 05:17:22,089 TO ADDRESS THAT WE PUT TOGETHER 6672 05:17:22,156 --> 05:17:24,392 MULTIPLE LOW POWER IMAGES ACROSS 6673 05:17:24,458 --> 05:17:25,659 THE SKIN SPECIMEN. 6674 05:17:25,726 --> 05:17:27,495 YOU SEE THE EXPRESSION OF 6675 05:17:27,561 --> 05:17:29,497 COLLAGEN 7 ACROSS THE SKIN. 6676 05:17:29,563 --> 05:17:31,565 VERY NICE ROBUST EXPRESSION OF 6677 05:17:31,632 --> 05:17:33,467 COLLAGEN 7. 6678 05:17:33,534 --> 05:17:38,038 WE CAN SEE THE FIBRILS BEING 6679 05:17:38,105 --> 05:17:38,272 FORMED. 6680 05:17:38,339 --> 05:17:39,507 THEY'RE NOT PRESENT AT THE 6681 05:17:39,573 --> 05:17:43,477 BASELINE BUT AFTER TREATMENT YOU 6682 05:17:43,544 --> 05:17:47,448 CAN SEE NICE BANDED STRUCTURES 6683 05:17:47,515 --> 05:17:50,384 COMING OUT FROM THE CENTRAL 6684 05:17:50,451 --> 05:17:52,720 MEMBRANE AND WRAPPING AROUND 6685 05:17:52,787 --> 05:17:54,922 INTERSTITIAL COLLAGEN FIBRILS 6686 05:17:54,989 --> 05:18:01,228 LOOKING LIKE WILD TYPE ANCHORING 6687 05:18:01,295 --> 05:18:06,867 FIBRILS. 6688 05:18:06,934 --> 05:18:09,437 THIS SUCCESSFUL PHASE 1 TRIAL 6689 05:18:09,503 --> 05:18:11,839 LED TO A TRIAL WITH STANFORD AS 6690 05:18:11,906 --> 05:18:12,273 A LEAD SITE. 6691 05:18:12,339 --> 05:18:13,441 AND I'LL SHOW YOU THE RESULTS OF 6692 05:18:13,507 --> 05:18:14,575 THAT. 6693 05:18:14,642 --> 05:18:25,186 IT WAS SET UP AS A PLACEBO AND 6694 05:18:32,626 --> 05:18:34,662 WE TREATED SOME PATIENTS OPEN 6695 05:18:34,728 --> 05:18:35,529 LABEL WITH ADDITIONAL WOUNDS SO 6696 05:18:35,596 --> 05:18:39,467 THE PATIENTS CAN GET BENEFIT AND 6697 05:18:39,533 --> 05:18:47,441 IT WILL HELP IN RECRUITMENT. 6698 05:18:47,508 --> 05:18:49,076 WE HAVE SEVERAL YEARS OF 6699 05:18:49,143 --> 05:18:55,249 EXPERIENCE OF PATIENTS USING THE 6700 05:18:55,316 --> 05:19:04,325 DRUG. 6701 05:19:04,391 --> 05:19:06,026 IF IT'S 95% HEALED IT DOESN'T 6702 05:19:06,093 --> 05:19:06,460 COUNT. 6703 05:19:06,527 --> 05:19:10,231 IT HAS TO BE 100% HEALED. 6704 05:19:10,297 --> 05:19:11,332 THE SECOND END POINT WAS WOUND 6705 05:19:11,398 --> 05:19:21,242 HEALING AT THREE MONTHS. 6706 05:19:21,308 --> 05:19:23,110 WE SAW A DIFFERENCE IN THE WOUND 6707 05:19:23,177 --> 05:19:25,246 HEALING COMPARED TO THE PLACEBO 6708 05:19:25,312 --> 05:19:27,481 CONTROL WITH HIGH STATISTICAL 6709 05:19:27,548 --> 05:19:35,322 SIGNIFICANCE. 6710 05:19:35,389 --> 05:19:36,991 ONE THING THAT EXCITES ME IS THE 6711 05:19:37,057 --> 05:19:41,996 SAFETY GOING BACK TO COMPARISON 6712 05:19:42,062 --> 05:19:43,130 WITH WHERE WE'VE BEEN WITH IN 6713 05:19:43,197 --> 05:19:45,299 VIVO GENE THERAPY. 6714 05:19:45,366 --> 05:19:47,501 THESE PATIENTS GOT THE DRUG 6715 05:19:47,568 --> 05:19:52,373 WEEKLY FOR 26 WEEKS. 6716 05:19:52,439 --> 05:19:55,142 THEY GOT MULTIPLE PREETED DOSAGE 6717 05:19:55,209 --> 05:19:56,577 AND DID NOT SEE SIGNIFICANT 6718 05:19:56,644 --> 05:20:03,117 ADVERSE EVENTS. 6719 05:20:03,183 --> 05:20:05,619 THIS COULD BE APPLICABLE TO 6720 05:20:05,686 --> 05:20:06,754 OTHER GENES AND INDICATIONS. 6721 05:20:06,820 --> 05:20:12,459 I THINK THIS HAS POTENTIAL FOR 6722 05:20:12,526 --> 05:20:17,731 OTHER FOLKS IN THE AUDIENCE TO 6723 05:20:17,798 --> 05:20:19,466 BE ABLE TO UTILIZE THE DRUG WITH 6724 05:20:19,533 --> 05:20:20,167 DIFFERENT GENES. 6725 05:20:20,234 --> 05:20:25,272 HERE'S ONE PATIENT WHO CAME TO 6726 05:20:25,339 --> 05:20:30,778 ME FROM ITALY AND HAD CHRONIC 6727 05:20:30,844 --> 05:20:32,713 WOUNDS ON MOST HIS BACK. 6728 05:20:32,780 --> 05:20:35,382 BY THEN OF THE PHASE 3 TRIAL HE 6729 05:20:35,449 --> 05:20:37,017 MOSTLY HEALED THE WOUNDS EXCEPT 6730 05:20:37,084 --> 05:20:39,053 FOR THE TWO SMALL AREAS HE 6731 05:20:39,119 --> 05:20:40,354 HEALED THE TWO SMALL AREAS AND 6732 05:20:40,421 --> 05:20:42,022 THEN WENT BACK TO ITALY AND 6733 05:20:42,089 --> 05:20:43,324 CALLED ME BACK LAST YEAR AND WAS 6734 05:20:43,390 --> 05:20:47,461 SAYING I WANTED TO GET BACK ON 6735 05:20:47,528 --> 05:20:50,998 THE THERAPY. 6736 05:20:51,065 --> 05:20:56,437 I THOUGHT HE WANTED KNOW TREAT 6737 05:20:56,503 --> 05:20:59,273 HIS BACK BUT 17 MONTHS OF THE 6738 05:20:59,340 --> 05:21:01,275 HIS THERAPY THIS BACK WAS GOOD 6739 05:21:01,342 --> 05:21:04,011 AND WANTED ME TO TREAT HIS LEGS. 6740 05:21:04,078 --> 05:21:05,779 THIS IS AN EXAMPLE OF LONG-TERM 6741 05:21:05,846 --> 05:21:06,013 RESULTS. 6742 05:21:06,080 --> 05:21:11,085 THIS IS ANOTHER PATIENT WHO WAS 6743 05:21:11,151 --> 05:21:12,353 ABLE TO HE'S HAD ABOUT FOUR 6744 05:21:12,419 --> 05:21:15,489 YEARS OF THERAPY AND ABLE TO SEE 6745 05:21:15,556 --> 05:21:19,493 SUBSTANTIAL HEALING HERE. 6746 05:21:19,560 --> 05:21:22,863 ALSO HIS WEIGHT AND HEIGHT HAVE 6747 05:21:22,930 --> 05:21:26,000 GONE UP DUE TO THE LESS 6748 05:21:26,066 --> 05:21:26,700 METABOLIC STRAIN ON THE WOUND 6749 05:21:26,767 --> 05:21:28,802 HEALING HE'S NOT HAVING TO DO 6750 05:21:28,869 --> 05:21:30,938 AND HIS NUTRITIONAL MARKERS HAVE 6751 05:21:31,005 --> 05:21:31,739 GONE UP TOO. 6752 05:21:31,805 --> 05:21:37,244 I'M HOPING THE VIDEO WORKS HERE. 6753 05:21:37,311 --> 05:21:37,411 YES. 6754 05:21:37,478 --> 05:21:40,514 >> I'M HERE TO TALK ABOUT MY 6755 05:21:40,581 --> 05:21:43,517 EXPERIENCE AS A GENE THERAPY 6756 05:21:43,584 --> 05:21:46,353 PATIENT. 6757 05:21:46,420 --> 05:21:53,894 I WAS BORN WITH A RARE SKIN 6758 05:21:53,961 --> 05:21:56,430 CONDITION CALLED DYSTROPHIC 6759 05:21:56,497 --> 05:21:57,865 EPIDERMOLYSIS BULLOSA AND MY 6760 05:21:57,931 --> 05:21:59,833 BODY DOESN'T PRODUCE COLLAGEN 7 6761 05:21:59,900 --> 05:22:00,968 WHICH HOLD THE TOP LAYER OF SKIN 6762 05:22:01,035 --> 05:22:02,836 TO MY BODY. 6763 05:22:02,903 --> 05:22:05,372 ANY AMOUNT OF FRICTION APPLIED 6764 05:22:05,439 --> 05:22:07,975 TO MY SKIN CAN TEAR IT RIGHT 6765 05:22:08,042 --> 05:22:08,642 OFF. 6766 05:22:08,709 --> 05:22:09,977 I HAVE TO BE EXTREMELY CAREFUL 6767 05:22:10,044 --> 05:22:12,379 WITH EVERYTHING I DO IN DAILY 6768 05:22:12,446 --> 05:22:12,579 LIFE. 6769 05:22:12,646 --> 05:22:14,214 MY FIRST EXPERIENCE IN GENE 6770 05:22:14,281 --> 05:22:19,486 THERAPY DATES BACK TO 2019 WHEN 6771 05:22:19,553 --> 05:22:22,923 I DECIDED TO PARTICIPATE IN A 6772 05:22:22,990 --> 05:22:24,024 TRIAL FOR EPIDERMOLYSIS BULLOSA. 6773 05:22:24,091 --> 05:22:25,993 BEFORE I START THE TRIAL, 70% OF 6774 05:22:26,060 --> 05:22:28,495 MY BACK WAS AN OPEN WOUND THAT 6775 05:22:28,562 --> 05:22:31,265 WOULD NOT HEAL. 6776 05:22:31,331 --> 05:22:34,668 THE MAJORITY OF BOTH MY UPPER 6777 05:22:34,735 --> 05:22:36,837 ARMS WOULD BE WOUND THAT WOULD 6778 05:22:36,904 --> 05:22:37,271 NOT HEAL. 6779 05:22:37,337 --> 05:22:42,476 I WAS ANEMIC AND LOSING SO MUCH 6780 05:22:42,543 --> 05:22:44,344 BLOOD AND IN PAIN AND DOING 6781 05:22:44,411 --> 05:22:49,283 EVERY DAY ACTIVITIES WOULD BE A 6782 05:22:49,349 --> 05:22:51,518 GREAT CHALLENGE AND SIMPLE 6783 05:22:51,585 --> 05:22:54,621 THINGS SUCH AS SLEEPING ON MY 6784 05:22:54,688 --> 05:22:55,255 BACK WAS DIFFICULT. 6785 05:22:55,322 --> 05:22:56,957 AFTER CONSISTENT REAPPLICATION 6786 05:22:57,024 --> 05:23:01,261 TO PARTS OF MY UPPER BACK AND 6787 05:23:01,328 --> 05:23:03,497 ARMS, THEY STARTED TO HEAL UP 6788 05:23:03,564 --> 05:23:04,565 AND STAY HEALED. 6789 05:23:04,631 --> 05:23:06,366 THAT WAS SURPRISING BECAUSE I 6790 05:23:06,433 --> 05:23:08,435 DIDN'T THINK IT WAS GOING TO 6791 05:23:08,502 --> 05:23:10,671 WORK AFTER YEAR HALF OF 6792 05:23:10,738 --> 05:23:11,805 REAPPLYING THE GENE THERAPY TO 6793 05:23:11,872 --> 05:23:19,279 MY BACK AND UPPER ARMS, 70% OF 6794 05:23:19,346 --> 05:23:24,318 MY BACK HEALED UP AND THE 6795 05:23:24,384 --> 05:23:26,053 MAJORITY OF MY UPPER ARMS HEALED 6796 05:23:26,120 --> 05:23:27,488 AND THIS IMPROVED MY LIFE 6797 05:23:27,554 --> 05:23:29,690 BECAUSE I WASN'T IN SO MUCH PAIN 6798 05:23:29,757 --> 05:23:34,962 AND WASN'T LOSING SO MUCH BLOOD 6799 05:23:35,028 --> 05:23:39,099 AND ABLE TO DO THINGS LIKE 6800 05:23:39,166 --> 05:23:40,234 SLEEPING ON MY BACK. 6801 05:23:40,300 --> 05:23:42,503 FAST FORWARDING TO TODAY, 90% OF 6802 05:23:42,569 --> 05:23:44,638 MY BACK IS COMPLETELY HEALED. 6803 05:23:44,705 --> 05:23:52,513 ALL MY ARMS ARE ALSO HEALED. 6804 05:23:52,579 --> 05:23:55,549 OTHER PARTS OF MY BODY ARE 6805 05:23:55,616 --> 05:24:01,722 STARTING TO HEAL. 6806 05:24:01,789 --> 05:24:03,490 I HOPE IN THE NEAR FUTURE 6807 05:24:03,557 --> 05:24:05,092 THERE'LL BE MORE ADVANCEMENTS 6808 05:24:05,159 --> 05:24:06,960 FOR THOSE WITH MY CONDITION AND 6809 05:24:07,027 --> 05:24:08,662 OTHERS WHO CAN BENEFIT FROM IT. 6810 05:24:08,729 --> 05:24:12,933 THAT'S A SHORT SUMMARY OF MY 6811 05:24:13,000 --> 05:24:14,067 EXPERIENCE IN GENE THERAPY AND 6812 05:24:14,134 --> 05:24:14,968 HOPE HAVE YOU A GOOD REST YOUR 6813 05:24:15,035 --> 05:24:15,135 DAY. 6814 05:24:15,202 --> 05:24:25,612 THANK YOU FOR YOUR TIME. 6815 05:24:29,616 --> 05:24:31,585 >> HE'S REALLY ARTICULATE AN 6816 05:24:31,652 --> 05:24:32,119 GREAT TO WORK WITH. 6817 05:24:32,186 --> 05:24:35,489 WE HAVE THE FIRST APPROVED GENE 6818 05:24:35,556 --> 05:24:42,996 THERAPY APPROVED LAST YEAR. 6819 05:24:43,063 --> 05:24:44,932 WE'RE FROM SILICON VALLEY SO 6820 05:24:44,998 --> 05:24:46,633 WITH HAVE TO DO THE ONE MORE 6821 05:24:46,700 --> 05:24:49,002 THING AND WE CAN USE THE THERAPY 6822 05:24:49,069 --> 05:24:49,369 IN THE EYE. 6823 05:24:49,436 --> 05:24:54,842 IN THE NEW ENGLAND JOURNAL ABOUT 6824 05:24:54,908 --> 05:24:59,079 TWO WEEKS AGO THE CASE REPORT 6825 05:24:59,146 --> 05:25:04,151 WAS PUBLISHED AND THERE WAS A 6826 05:25:04,218 --> 05:25:05,285 STUDY A PATIENT WITH CLINICAL 6827 05:25:05,352 --> 05:25:07,187 TRIAL HAS EYE SCARRING AND WAS 6828 05:25:07,254 --> 05:25:09,523 BLIND AND RECEIVED THE GENE 6829 05:25:09,590 --> 05:25:10,257 THERAPY MULTIPLE TIMES OVER 6830 05:25:10,324 --> 05:25:12,092 SEVERAL MONTHS AND WAS ABLE TO 6831 05:25:12,159 --> 05:25:16,797 GET IMPROVEMENT IN HIS VISUAL 6832 05:25:16,864 --> 05:25:18,899 ACUITY TO APPRECIATE HAND MOTION 6833 05:25:18,966 --> 05:25:21,201 UP TO 20, 40 VISION. 6834 05:25:21,268 --> 05:25:23,770 IT MADE A HUGE DIFFERENCE IN HIS 6835 05:25:23,837 --> 05:25:26,039 QUALITY OF LIFE. 6836 05:25:26,106 --> 05:25:27,474 HE'S HAPPY TO HAVE PARTICIPATED 6837 05:25:27,541 --> 05:25:33,113 IN THAT. 6838 05:25:33,180 --> 05:25:35,482 WE'LL BE GOING AFTER MUCOSAL 6839 05:25:35,549 --> 05:25:38,919 SERVICE AND MORE EYE PATIENTS 6840 05:25:38,986 --> 05:25:41,121 AND ORAL PHARYNX AND OTHER 6841 05:25:41,188 --> 05:25:41,855 MUCOSAL AREAS. 6842 05:25:41,922 --> 05:25:43,924 I WANT TO THANK ALL THE SMART, 6843 05:25:43,991 --> 05:25:44,925 TALENTED PEOPLE WHO WORKED ON 6844 05:25:44,992 --> 05:25:49,263 THIS AND ESPECIALLY THE PATIENTS 6845 05:25:49,329 --> 05:25:53,667 WHO DONATED THEIR TIME IN AN 6846 05:25:53,734 --> 05:25:56,503 ALTRUISTIC WAY TO PARTICIPATE IN 6847 05:25:56,570 --> 05:25:57,070 THE TRIALS AND HELP OTHERS. 6848 05:25:57,137 --> 05:26:07,481 THANK YOU VERY MUCH. 6849 05:26:12,986 --> 05:26:15,489 NEXT SPEAKER WILL BE FROM MASS 6850 05:26:15,555 --> 05:26:18,091 GENERAL TALKING ABOUT GENE 6851 05:26:18,158 --> 05:26:28,702 THERAPY FOR CEREBRAL DYSTROPHY. 6852 05:26:34,541 --> 05:26:39,613 >> THANKS NOR ABILITY TO PRESENT 6853 05:26:39,680 --> 05:26:50,123 ON PATIENTS WITH CEREBRAL 6854 05:26:50,390 --> 05:26:50,724 ADRENOLEUKODYSTROPHY. 6855 05:26:50,791 --> 05:26:52,526 I'D THOUGHT I'D GIVE A 6856 05:26:52,592 --> 05:26:53,994 DEFINITION OF THE DISORDERS. 6857 05:26:54,061 --> 05:26:56,496 IT'S A SINGLE GENE DISORDERS 6858 05:26:56,563 --> 05:26:57,397 THAT IMPAIR NORMAL BRAIN. 6859 05:26:57,464 --> 05:27:01,068 THAT MEANS THE CHILDREN ARE 6860 05:27:01,134 --> 05:27:03,203 USUALLY BORN WITHOUT STRUCTURAL 6861 05:27:03,270 --> 05:27:03,537 MALFORMATIONS. 6862 05:27:03,603 --> 05:27:09,209 THEY'RE BRAIN IS WELL IN FACT 6863 05:27:09,276 --> 05:27:18,685 AND WELL FORMED THEY LOSE MYELIN 6864 05:27:18,752 --> 05:27:20,587 AND IT'S COMMONLY FAILED 6865 05:27:20,654 --> 05:27:21,488 DISORDERS. 6866 05:27:21,555 --> 05:27:29,629 CHILDREN OFTEN HAVE EARLY 6867 05:27:29,696 --> 05:27:31,932 COGNITIVE PROGRAMS AND SUBSTANCE 6868 05:27:31,999 --> 05:27:35,435 ABUSE IS NOT UNCOMMON AND 6869 05:27:35,502 --> 05:27:38,071 ABNORMALITIES AND DEMENTIA AND 6870 05:27:38,138 --> 05:27:40,941 DEATH SETS IN WITHIN MONTHS IN 6871 05:27:41,008 --> 05:27:43,276 CHILDREN AND IN THE ADULT ONSET 6872 05:27:43,343 --> 05:27:43,477 CASES. 6873 05:27:43,543 --> 05:27:47,481 THE DISORDER I'LL FOCUS ON IS 6874 05:27:47,547 --> 05:27:51,485 ADRENOLEUKODYSTROPHY DUE TO 6875 05:27:51,551 --> 05:27:54,554 MUTATIONS IN THE GENE CALLED 6876 05:27:54,621 --> 05:27:58,658 ABCD1 WHICH ENCODE THE ADL 6877 05:27:58,725 --> 05:28:09,269 PROTEIN WHICH SITS PEROXISOMAL 6878 05:28:15,108 --> 05:28:20,013 TRANSPORTER AND CAN AFFECT ACUTE 6879 05:28:20,080 --> 05:28:30,323 BRAIN DEE -- DEMYELINATION AND 6880 05:28:30,390 --> 05:28:30,490 AMN. 6881 05:28:30,557 --> 05:28:34,094 SO YOUR BORN WITH THE GENE 6882 05:28:34,161 --> 05:28:35,595 DEFECT AND HAVE LONG CHAIN FATTY 6883 05:28:35,662 --> 05:28:37,297 ACID DEFECTS. 6884 05:28:37,364 --> 05:28:39,499 IT'S LED TO A NEW SCREEN PROGRAM 6885 05:28:39,566 --> 05:28:50,043 AND THEN IN THE AND YOU CAN 6886 05:28:52,446 --> 05:28:53,880 DEVELOP THE SPINAL CORD FORM OF 6887 05:28:53,947 --> 05:28:54,114 DISEASE. 6888 05:28:54,181 --> 05:28:56,383 IN ADULTHOOD YOU STILL HAVE A 6889 05:28:56,450 --> 05:29:00,387 RISK OF ADULT ONSET CEREBRAL 6890 05:29:00,454 --> 05:29:00,554 ALD. 6891 05:29:00,620 --> 05:29:02,355 THE SPINAL CORD DISEASE AND 6892 05:29:02,422 --> 05:29:08,328 BRAIN DISEASE ARE REALLY QUITE 6893 05:29:08,395 --> 05:29:08,595 DIFFERENT. 6894 05:29:08,662 --> 05:29:17,904 YOU HAVE INFLAMMATORY 6895 05:29:17,971 --> 05:29:21,541 DEMYELINATION AND IT AFFECTS 6896 05:29:21,608 --> 05:29:22,242 GAIT AND BALANCE. 6897 05:29:22,309 --> 05:29:23,543 VERY IMPORTANT FOR OUR 6898 05:29:23,610 --> 05:29:25,779 DEVELOPMENT PROCESS WAS THE FACT 6899 05:29:25,846 --> 05:29:29,516 THAT WE WERE ABLE TO INSTITUTE 6900 05:29:29,583 --> 05:29:30,817 NEWBORN SCREENING FOR THIS 6901 05:29:30,884 --> 05:29:34,955 DISORDER CONCURRENTLY WITH THE 6902 05:29:35,021 --> 05:29:41,862 TRIAL WE STARTED THIS WAS DUE TO 6903 05:29:41,928 --> 05:29:43,497 TECHNOLOGY AND TIRELESS EFFORTS 6904 05:29:43,563 --> 05:29:48,235 OF PATIENT ADVOCATES WHO HELPED 6905 05:29:48,301 --> 05:29:53,106 LAUNCH THIS NEWBORN SCREENING 6906 05:29:53,173 --> 05:29:56,710 PROGRAM THIS THAT IS NOW 6907 05:29:56,776 --> 05:29:58,545 RECOMMENDED IN 2016 AND IS 6908 05:29:58,612 --> 05:29:59,479 HAPPENING ACROSS ALL STATES IN 6909 05:29:59,546 --> 05:30:07,487 THE COUNTRY. 6910 05:30:07,554 --> 05:30:11,057 TO DESCRIBE HOW 6911 05:30:11,124 --> 05:30:12,492 ADRENOLEUKODYSTROPHY PROGRESSES 6912 05:30:12,559 --> 05:30:14,327 YOU GET AN MRI THAT'S NORMAL AND 6913 05:30:14,394 --> 05:30:16,163 START SEEK A LESION IN THE WHITE 6914 05:30:16,229 --> 05:30:20,000 MATTER THAT SPREAD OUTWARD AND 6915 05:30:20,066 --> 05:30:21,401 LIKE WILDFIRE STARTS TAKING OVER 6916 05:30:21,468 --> 05:30:22,569 THE ENTIRE BRAIN. 6917 05:30:22,636 --> 05:30:24,671 IMPORTANTLY, THE FIRST SYMPTOMS 6918 05:30:24,738 --> 05:30:27,474 CAN BE QUITE SUBTLE AND LOOK 6919 05:30:27,541 --> 05:30:28,842 ATTENTION DEFICIT AND IN SHORT 6920 05:30:28,909 --> 05:30:30,944 ORDER THESE BOYS START TO LOSE 6921 05:30:31,011 --> 05:30:37,317 THE ABILITY TO WALK AND TALK 6922 05:30:37,384 --> 05:30:42,656 WITHIN YEARS BECOME UNABLE TO 6923 05:30:42,722 --> 05:30:42,923 AMBULATE. 6924 05:30:42,989 --> 05:30:45,992 TO GIVE AN EXAMPLE, ONE OF MY 6925 05:30:46,059 --> 05:30:47,460 PATIENTS WHO CAME TO ME JUST 6926 05:30:47,527 --> 05:30:51,565 MONTHS AFTER THIS VIDEO WAS 6927 05:30:51,631 --> 05:30:55,569 TAKEN PRECOCIOUS YOUNG BOY IN 6928 05:30:55,635 --> 05:30:57,571 KARATE CLASS VERY ARTICULATE AND 6929 05:30:57,637 --> 05:30:59,806 COULD TELL ME PLENTY OF STORIES 6930 05:30:59,873 --> 05:31:05,745 WHEN HE ARRIVED AND CAN SEE A 6931 05:31:05,812 --> 05:31:07,214 FEW MONTHS AFTER HE HAD BRAIN 6932 05:31:07,280 --> 05:31:10,150 DISEASE DEVELOPING AND WAS NO 6933 05:31:10,217 --> 05:31:13,353 LONGER ABLE TO AMBULATE 6934 05:31:13,420 --> 05:31:17,257 INDEPENDENTLY AND NEEDS 6935 05:31:17,324 --> 05:31:19,359 ASSISTANCE TO WALK AROUND AND 6936 05:31:19,426 --> 05:31:24,431 MARK ATAXIA. 6937 05:31:24,497 --> 05:31:27,234 HOW DO YOU MEASURE SUCH A 6938 05:31:27,300 --> 05:31:28,735 DEVASTATING DISORDER THAT 6939 05:31:28,802 --> 05:31:30,103 AFFECTS DOMAINS. 6940 05:31:30,170 --> 05:31:32,839 WE HAVE A NEUROLOGIC FUNCTION 6941 05:31:32,906 --> 05:31:34,374 SCORE THAT ENCOMPASSES 25 POINTS 6942 05:31:34,441 --> 05:31:37,344 AND SINGLE OUT FUNCTIONAL 6943 05:31:37,410 --> 05:31:43,216 DISABILITIES SHOWN HERE IN BOLD. 6944 05:31:43,283 --> 05:31:45,051 THREES INTEREST THE THINGS YOU 6945 05:31:45,118 --> 05:31:49,322 CAN RECOGNIZE THE ROOM, LOSS OF 6946 05:31:49,389 --> 05:31:51,091 CORTICAL BLINDNESS AND BEING 6947 05:31:51,157 --> 05:31:53,593 WHEELCHAIR BOUND, ETCETERA. 6948 05:31:53,660 --> 05:31:55,762 WE HAVE THE MRI AND MRI SEVERITY 6949 05:31:55,829 --> 05:31:59,332 SCORE WHERE YOU CAN REALLY USE 6950 05:31:59,399 --> 05:32:00,834 THE EXTENT AND SPREAD OF THE 6951 05:32:00,900 --> 05:32:03,503 LESION TO INFORM A SCORING 6952 05:32:03,570 --> 05:32:05,305 SYSTEM WE CALL THE LESS MRI 6953 05:32:05,372 --> 05:32:07,707 SEVERITY SCORE AND IMPORTANTLY 6954 05:32:07,774 --> 05:32:12,445 THERE'S AN ER OF ACTIVE CEREBRAL 6955 05:32:12,512 --> 05:32:14,114 ALD IN THE GARLAND OF 6956 05:32:14,180 --> 05:32:14,948 ENHANCEMENT WHERE TE BLOOD BRAIN 6957 05:32:15,015 --> 05:32:21,521 BARRIER IS BREAKING DOWN. 6958 05:32:21,588 --> 05:32:24,624 WHAT DOES THE PATHOLOGY OF THE 6959 05:32:24,691 --> 05:32:26,226 BRAIN MRI LOOKS LIKE? 6960 05:32:26,293 --> 05:32:29,963 MRI SAY GOOD SURROGATE FOR THE 6961 05:32:30,030 --> 05:32:31,131 PATHOLOGY 6962 05:32:31,197 --> 05:32:33,867 IT'S A ZONAL PATHOLOGY WHERE 6963 05:32:33,933 --> 05:32:37,337 THERE'S COMPLETE LOSS OF MYELIN 6964 05:32:37,404 --> 05:32:39,306 AND THE INFLAMMATORY 6965 05:32:39,372 --> 05:32:42,776 INFILTRATION AROUND THE VESSELS 6966 05:32:42,842 --> 05:32:45,912 AND IMPORTANTLY THERE'S A ZONE 6967 05:32:45,979 --> 05:32:47,480 OF MICROGLIAL CELL LOSS AROUND 6968 05:32:47,547 --> 05:32:53,219 THE PROGRESSIVE SPREADING 6969 05:32:53,286 --> 05:32:53,887 DISEASE. 6970 05:32:53,953 --> 05:32:56,923 AND THERE'S IMPORTANT INSIGHT 6971 05:32:56,990 --> 05:32:58,658 BONE MARROW TRANSPLANTATION 6972 05:32:58,725 --> 05:33:01,428 COULD BE HELPING HERE. 6973 05:33:01,494 --> 05:33:05,665 THIS HAD BEENI GOING ON TWO 6974 05:33:05,732 --> 05:33:07,334 DECADES BEFORE I STEPPED IN THE 6975 05:33:07,400 --> 05:33:10,403 FIELD AND IT WAS WELL KNOWN 6976 05:33:10,470 --> 05:33:13,106 TRANSPLANTATION COULD IMPROVE 6977 05:33:13,173 --> 05:33:13,807 WITH VIEFRL IF DONE EARLY IN THE 6978 05:33:13,873 --> 05:33:15,375 DISEASE COURSE WITH A WELL 6979 05:33:15,442 --> 05:33:16,343 MATCHED DORNE AND SEE THE 6980 05:33:16,409 --> 05:33:20,180 DIFFERENCES IN SURVIVAL BUT AT A 6981 05:33:20,246 --> 05:33:20,380 COST. 6982 05:33:20,447 --> 05:33:25,018 THERE WAS GRAFT VERSUS HOST 6983 05:33:25,085 --> 05:33:27,587 DISEASE AND THINGS AILING THE 6984 05:33:27,654 --> 05:33:29,856 FAMILIES. 6985 05:33:29,923 --> 05:33:32,058 THIS WAS PERTINENT TO THOSE WHO 6986 05:33:32,125 --> 05:33:34,694 DIDN'T FIND A GOOD WELL MATCHED 6987 05:33:34,761 --> 05:33:37,697 DONOR AND THIS WAS MORE 6988 05:33:37,764 --> 05:33:39,799 PROMINENT AMONG HISPANIC 6989 05:33:39,866 --> 05:33:41,668 FAMILIES AND BLACK AND AFRICAN 6990 05:33:41,735 --> 05:33:43,436 AMERICAN FAMILIES LEADING TO A 6991 05:33:43,503 --> 05:33:51,945 LOT OF INEQUITY IN THE FIELD. 6992 05:33:52,011 --> 05:33:56,082 AT BOSTON CHILDREN'S WE LAUNCHED 6993 05:33:56,149 --> 05:34:06,626 A TRIAL USING HEMATOPOIETIC 6994 05:34:07,861 --> 05:34:11,464 CELLS AND WE TRANSDUCE THE HIM 6995 05:34:11,531 --> 05:34:13,333 WITH A VECTOR DELIVERING A 6996 05:34:13,400 --> 05:34:16,936 HEALTHY COPY AND RETURNED THE 6997 05:34:17,003 --> 05:34:20,440 CELLS BACK TO THE BOYS AFTER A 6998 05:34:20,507 --> 05:34:22,442 BRIEF ABLATION AND FOLLOWED THE 6999 05:34:22,509 --> 05:34:26,346 BOYS FOR A TWO-YEAR PERIOD. 7000 05:34:26,413 --> 05:34:31,217 IT'S IMPORTANT NOTE THIS IS WHAT 7001 05:34:31,284 --> 05:34:34,888 HAPPENS IN AN ALGENEIC 7002 05:34:34,954 --> 05:34:36,389 TRANSPLANTATION WITH THE CELLS 7003 05:34:36,456 --> 05:34:39,058 FROM THE BOYS THEMSELVES. 7004 05:34:39,125 --> 05:34:42,061 WE FIRST PUBLISHED THIS IN 2017 7005 05:34:42,128 --> 05:34:43,863 WHERE WE REPORTED ON THE FIRST 7006 05:34:43,930 --> 05:34:47,567 17 BOYS WHO DIDN'T HAVE A WELL 7007 05:34:47,634 --> 05:34:53,373 MATCHED DONOR. 7008 05:34:53,440 --> 05:34:57,177 WE FOUND 88% WERE ALIVE WITHOUT 7009 05:34:57,243 --> 05:34:58,077 MAJOR FUNCTIONAL DISABILITY. 7010 05:34:58,144 --> 05:35:01,014 TWO PATIENTS DECIDE AND ONE WAS 7011 05:35:01,080 --> 05:35:02,582 RAPIDLY PROGRESSING AND OTHER 7012 05:35:02,649 --> 05:35:04,250 PATIENT HAD UNDER GONE A 7013 05:35:04,317 --> 05:35:07,353 SEPARATE BONE MARROW 7014 05:35:07,420 --> 05:35:14,093 TRANSPLANTATION. 7015 05:35:14,160 --> 05:35:15,662 THEY HAD SUCCUMB. 7016 05:35:15,728 --> 05:35:21,935 WE TREATED PATIENTS WORLDWIDE 7017 05:35:22,001 --> 05:35:27,340 AND WIN TRIAL USING A REGIMENT 7018 05:35:27,407 --> 05:35:29,476 AND TO SHOW THE LONG-TERM 7019 05:35:29,542 --> 05:35:30,577 EFFICACY. 7020 05:35:30,643 --> 05:35:37,350 THE LESS SCORE AND MRI LESION 7021 05:35:37,417 --> 05:35:41,287 SCORE IS THAT USUALLY PROGRESSES 7022 05:35:41,354 --> 05:35:42,822 AND YOU SEE HOW QUICKLY THE 7023 05:35:42,889 --> 05:35:44,524 SCORE WENT UP. 7024 05:35:44,591 --> 05:35:47,227 MOST PATIENTS STABILIZE 7025 05:35:47,293 --> 05:35:49,329 IMMEDIATELY AFTER TREATMENT OR 7026 05:35:49,395 --> 05:35:50,763 WITHIN 12 TO 24 MONTHS AFTER 7027 05:35:50,830 --> 05:36:00,974 ADMINISTRATION OF DRUG. 7028 05:36:01,040 --> 05:36:04,177 HIGHER SCORES BEING MORE 7029 05:36:04,244 --> 05:36:05,078 PATIENTS. 7030 05:36:05,144 --> 05:36:07,514 94% ACHIEVE STABLE NEUROLOGIC 7031 05:36:07,580 --> 05:36:08,748 FUNCTION WITHOUT MAJOR 7032 05:36:08,815 --> 05:36:09,616 FUNCTIONAL DISABILITIES. 7033 05:36:09,682 --> 05:36:14,354 TO GIVE A PICTURE OF HOW GENE 7034 05:36:14,420 --> 05:36:19,492 THERAPY CAME ABOUT FOR THIS WE 7035 05:36:19,559 --> 05:36:21,995 WERE FORTUNATE TO BUILD ON THE 7036 05:36:22,061 --> 05:36:23,263 EXPERIENCE OF BONE MARROW 7037 05:36:23,329 --> 05:36:28,067 TRANSPLANTATION AND THAT WAS 7038 05:36:28,134 --> 05:36:35,508 SOMETHING THAT COULD WORK AND 7039 05:36:35,575 --> 05:36:46,119 THIS WAS WORK DONE IN PARIS AND 7040 05:36:47,153 --> 05:36:50,290 WE LAUNCHED A FIRST TRIAL IN 7041 05:36:50,356 --> 05:36:53,660 BOSTON AND WERE ABLE TO EXTEND 7042 05:36:53,726 --> 05:36:55,962 THAT WORLDWIDE WITH THE HELP OF 7043 05:36:56,029 --> 05:37:00,199 THE EUROPEAN GROUPS. 7044 05:37:00,266 --> 05:37:01,367 UNFORTUNATELY, WHILE THAT THERE 7045 05:37:01,434 --> 05:37:03,503 WAS RECOMMENDED APPROVAL THE 7046 05:37:03,570 --> 05:37:05,071 SPONSOR EXITED EUROPE AND WE HAD 7047 05:37:05,138 --> 05:37:08,575 SETBACKS WITH TWO FACES OF A 7048 05:37:08,641 --> 05:37:15,481 SYNDROME AND THE THIRD 7049 05:37:15,548 --> 05:37:16,249 FOLLOWING. 7050 05:37:16,316 --> 05:37:18,318 NEVERTHELESS THE FDA COMMITTEEA 7051 05:37:18,384 --> 05:37:20,119 RECOMMENDED UNANIMOUS APPROVAL 7052 05:37:20,186 --> 05:37:22,055 AND LET TO THE FIRST FDA 7053 05:37:22,121 --> 05:37:26,659 APPROVAL FOR THE THERAPY OF 7054 05:37:26,726 --> 05:37:27,126 ADRENOLEUKODYSTROPHY. 7055 05:37:27,193 --> 05:37:28,494 I MENTIONED THE SYNDROME THAT 7056 05:37:28,561 --> 05:37:38,938 HAS BECOME OF CONCERN. 7057 05:37:46,045 --> 05:37:49,382 WE GAVE RISE TO THE BLAST FORM 7058 05:37:49,449 --> 05:37:52,518 ATION S. 7059 05:37:52,585 --> 05:37:54,554 THEY UNDERWENT SEPARATE BONE 7060 05:37:54,621 --> 05:37:57,624 MARROW TRANSPLANTATIONS. 7061 05:37:57,690 --> 05:38:02,061 FOUR OF THESE FIVE BOYS ALL HAD 7062 05:38:02,128 --> 05:38:04,464 A CONDITIONING REGIMENT AND ONE 7063 05:38:04,530 --> 05:38:06,599 HAD PSYCH JOE FOSS MIGHT. 7064 05:38:06,666 --> 05:38:10,370 THIS IS GIVING US HOPE FIRSTING 7065 05:38:10,436 --> 05:38:14,040 WHAT THE CONDITIONING REGIMENT 7066 05:38:14,107 --> 05:38:14,674 OPTIMAL COULD HELP REDUCE RISK 7067 05:38:14,741 --> 05:38:21,414 HERE. 7068 05:38:21,481 --> 05:38:22,382 SO SUMMARIZE THE TRANSPLANTATION 7069 05:38:22,448 --> 05:38:26,519 THAT LED TO APPROVAL, YOU CAN 7070 05:38:26,586 --> 05:38:29,956 SEE IN THE ORANGE LINE THE 7071 05:38:30,023 --> 05:38:35,528 MATCHED SURVIVAL AT BONE MARROW 7072 05:38:35,595 --> 05:38:42,602 TRANSPLANT GROUP COMPARED TO OUR 7073 05:38:42,669 --> 05:38:45,204 GROUP AND 91% OF PATIENTS WITH 7074 05:38:45,271 --> 05:38:47,407 GENE THERAPY REACHED THE PRIMARY 7075 05:38:47,473 --> 05:38:51,477 EFFICACY END POINT OF MAJOR 7076 05:38:51,544 --> 05:38:53,012 FUNCTIONAL DISABILITY FREE 7077 05:38:53,079 --> 05:38:53,279 SURVIVAL. 7078 05:38:53,346 --> 05:38:56,849 TO CONCLUDE, I HOPE I'VE SHOWN 7079 05:38:56,916 --> 05:38:58,918 HOW THE STAGE WAS SET BY PATIENT 7080 05:38:58,985 --> 05:39:00,520 ADVOCACY STARTING NEWBORN 7081 05:39:00,586 --> 05:39:03,156 SCREENING AND BUILDING COMMUNITY 7082 05:39:03,222 --> 05:39:06,492 THAT WAS CRITICAL FOR OUR 7083 05:39:06,559 --> 05:39:07,193 RECRUITMENT EFFORTS. 7084 05:39:07,260 --> 05:39:12,031 THERE WAS CHILDREN IDENTIFIED IN 7085 05:39:12,098 --> 05:39:14,133 EARLY PRE SYSTEM AT INNING 7086 05:39:14,200 --> 05:39:15,468 STAGES HELPED TREMENDOUSLY. 7087 05:39:15,535 --> 05:39:21,908 MORE THAN 70%S WITH ALD HAVE 7088 05:39:21,974 --> 05:39:23,609 BEEN TREATED WITH GENE THERAPY 7089 05:39:23,676 --> 05:39:27,480 AND IN MOST TRIALS 94% ACHIEVED 7090 05:39:27,547 --> 05:39:31,384 STABLE NEUROLOGIC FUNCTION AND 7091 05:39:31,451 --> 05:39:35,488 THE EX VIVO THERAPY HAS 7092 05:39:35,555 --> 05:39:39,492 SIMILARITIES AND AFFECT FROM 7093 05:39:39,559 --> 05:39:41,160 CHEMOTHERAPY WITH IMMUNE 7094 05:39:41,227 --> 05:39:43,396 SUPPRESSION AND WITH WE HAVE 7095 05:39:43,463 --> 05:39:45,631 GRAPH VERSUS HOST AND THERE'S 7096 05:39:45,698 --> 05:39:47,934 THE EMERGENCE OF THE SYNDROME WE 7097 05:39:48,000 --> 05:39:57,110 HAVE TO KEEP A CLOSE EYE ON. 7098 05:39:57,176 --> 05:39:59,479 I WANT TO ACKNOWLEDGE THE 7099 05:39:59,545 --> 05:40:00,680 COLLABORATORS AROUND THE WORLD. 7100 05:40:00,747 --> 05:40:02,682 IT TOOK A VILLAGE AND A WANT TO 7101 05:40:02,749 --> 05:40:04,484 ACKNOWLEDGE THE FAMILIES THAT 7102 05:40:04,550 --> 05:40:06,285 PARTICIPATED HERE AND I WANT TO 7103 05:40:06,352 --> 05:40:12,592 DRAW ATTENTION TO SOME STORIES 7104 05:40:12,658 --> 05:40:13,192 HERE. 7105 05:40:13,259 --> 05:40:14,160 THERE ARE THREE BOYS FROM SOUTH 7106 05:40:14,227 --> 05:40:15,995 AMERICA WHOSE FIRST NAMES HAVE 7107 05:40:16,062 --> 05:40:18,431 THE INITIALS OF A, D AND L. 7108 05:40:18,498 --> 05:40:20,133 YOU CAN SEE THEY WERE 7109 05:40:20,199 --> 05:40:22,802 CELEBRATING A BIRTHDAY AND 7110 05:40:22,869 --> 05:40:26,672 CROSSED OUT ALD AND WROTE ADL. 7111 05:40:26,739 --> 05:40:28,441 IN MY MIND REAFFIRMING THEIR OWN 7112 05:40:28,508 --> 05:40:30,409 IDENTITY AND PINTING TO THE FACT 7113 05:40:30,476 --> 05:40:33,813 THEY THERE WERE FAR MORE THAN 7114 05:40:33,880 --> 05:40:35,214 THE DISEASE AND GENE THERAPY 7115 05:40:35,281 --> 05:40:37,049 HELPED THEM OVERCOME THAT. 7116 05:40:37,116 --> 05:40:39,485 HERE'S THE FIRST BOY TREATED IN 7117 05:40:39,552 --> 05:40:43,356 OUR TRIAL WHO IS PARENTS SENT ME 7118 05:40:43,422 --> 05:40:46,259 PICTURE OF HIM PLAYING SOCCER 7119 05:40:46,325 --> 05:40:47,460 LAST YEAR AND SOMEONE NOW 7120 05:40:47,527 --> 05:40:50,163 THRIVING IN THE MIDDLE OF THEIR 7121 05:40:50,229 --> 05:40:52,131 LIFE SHOWING ALL THE QUALITY WE 7122 05:40:52,198 --> 05:40:52,765 WISH FOR THEM. 7123 05:40:52,832 --> 05:40:56,969 HERE'S THE FIRST BOY WHO IS NOW 7124 05:40:57,036 --> 05:40:57,970 TREATED WITH COMMERCIAL PRODUCT 7125 05:40:58,037 --> 05:40:59,472 EARLY IN STAGE OF DISEASE DOING 7126 05:40:59,539 --> 05:41:05,411 WELL. 7127 05:41:05,478 --> 05:41:09,982 I WANT TO SHOW THE CONSORTIA 7128 05:41:10,049 --> 05:41:11,450 REFORMED TO BRING TOGETHER THE 7129 05:41:11,517 --> 05:41:12,819 PATIENT VOICE AND HIGHLIGHT 7130 05:41:12,885 --> 05:41:13,753 THERE'S STILL A LOT OF UNMET 7131 05:41:13,820 --> 05:41:14,554 NEED IN THE COMMUNITY. 7132 05:41:14,620 --> 05:41:17,490 WE DON'T HAVE TREATMENT FOFRZ 7133 05:41:17,557 --> 05:41:17,890 ADULTS RIGHT NOW. 7134 05:41:17,957 --> 05:41:19,225 WE DON'T KNOW HOW TO BRING THIS 7135 05:41:19,292 --> 05:41:24,030 TO ADULTS WITH CEREBRAL ALD OR 7136 05:41:24,096 --> 05:41:25,398 TREAT THE SPINAL CORD FORM OF 7137 05:41:25,464 --> 05:41:26,766 THE DISEASE. 7138 05:41:26,833 --> 05:41:28,835 I THINK WE MADE A START AND HOPE 7139 05:41:28,901 --> 05:41:31,404 THERE'S MORE PROGRESS TO BE MADE 7140 05:41:31,470 --> 05:41:32,171 IN THE FIELD. 7141 05:41:32,238 --> 05:41:42,415 THANK YOU. 7142 05:41:44,217 --> 05:41:45,284 >> THANK YOU, FLORIAN. 7143 05:41:45,351 --> 05:41:47,486 I'LL INTRODUCE OUR LAST SPEAKER 7144 05:41:47,553 --> 05:41:54,894 PRESENTING VIRTUALLY, DR. ALEXIS 7145 05:41:54,961 --> 05:41:55,528 LEONARD FROM ST. JUDE CHILDREN'S 7146 05:41:55,595 --> 05:42:05,771 HOSPITAL. 7147 05:42:24,891 --> 05:42:31,197 WHY IT'S A SINGLE MISSPELLING IN 7148 05:42:31,264 --> 05:42:35,501 THE MUTATION AND THE JOB OF H 7149 05:42:35,568 --> 05:42:40,940 HEMOGLOBIN IS TO DELIVER AND 7150 05:42:41,007 --> 05:42:43,943 WHEN IT'S HAMPERED IT FORMS THE 7151 05:42:44,010 --> 05:42:45,244 SICKLE SHAPE OF THE RED CELL AND 7152 05:42:45,311 --> 05:42:47,480 IT'S DENSE AN HARD AND CAUSES 7153 05:42:47,546 --> 05:42:51,751 THE COMPLICATIONS OF THE DISEASE 7154 05:42:51,817 --> 05:42:55,421 WHICH INCLUDES HAVING LOW BLOOD 7155 05:42:55,488 --> 05:42:58,591 COUNTS OR OCCLUSION OF BLOOD 7156 05:42:58,658 --> 05:42:59,125 VESSELS. 7157 05:42:59,191 --> 05:43:00,960 IN THE UNITED STATES SICKLE CELL 7158 05:43:01,027 --> 05:43:06,132 DISEASE IS A CHRONIC HEALTH 7159 05:43:06,198 --> 05:43:09,101 DISORDER AND AFFECTS PATIENTS 7160 05:43:09,168 --> 05:43:11,504 FROM HEAD TO TOE IN EVERY ORGAN 7161 05:43:11,570 --> 05:43:13,739 FROM THE ABNORMAL BLOOD CELL AND 7162 05:43:13,806 --> 05:43:16,108 AS A PATIENT AGES THE LIST OF 7163 05:43:16,175 --> 05:43:17,243 COMPLICATIONS GROWS AND IN RED 7164 05:43:17,310 --> 05:43:24,183 YOU SEE THE COMPLICATION ARE 7165 05:43:24,250 --> 05:43:26,352 IRREVERSIBLE AT ANY AGE. 7166 05:43:26,419 --> 05:43:28,220 THIS IS A GROWING GLOBAL HEALTH 7167 05:43:28,287 --> 05:43:31,390 DISEASE WITH HIGH MORBIDITY, 7168 05:43:31,457 --> 05:43:36,462 LOTS OF COMPLICATIONS, EARLY 7169 05:43:36,529 --> 05:43:37,396 MORTALITY. 7170 05:43:37,463 --> 05:43:39,699 YOU STE THE INCREASE GLOBALLY 7171 05:43:39,765 --> 05:43:42,268 FROM 5 MILLION IN 2000 TO NEARLY 7172 05:43:42,335 --> 05:43:44,337 8 MILLION IN 2021 AND SEE WHERE 7173 05:43:44,403 --> 05:43:48,474 THE VAST MAJORITY OF THE BURDEN 7174 05:43:48,541 --> 05:43:50,376 OF THE DISEASE AND MORTALITY 7175 05:43:50,443 --> 05:43:51,110 OCCURS. 7176 05:43:51,177 --> 05:43:54,480 IN THE U.S. THE AVERAGE LIFE 7177 05:43:54,547 --> 05:43:57,717 EXPECTANCY IS 20 YEARS YOUNGER 7178 05:43:57,783 --> 05:43:59,485 THAN PATIENTS OF 52 YEARS WHICH 7179 05:43:59,552 --> 05:44:01,620 TRANSLATES TO REDUCED LIFE TIME 7180 05:44:01,687 --> 05:44:03,489 INCOME OF NEARLY A MILLION 7181 05:44:03,556 --> 05:44:03,723 DOLLARS. 7182 05:44:03,789 --> 05:44:05,825 VERY EXPENSIVE. 7183 05:44:05,891 --> 05:44:06,926 INDIVIDUALLY YOU CAN SEE WHAT 7184 05:44:06,993 --> 05:44:09,028 SOME COSTS ARE INCLUDING HIGH 7185 05:44:09,095 --> 05:44:10,863 OUT OF POCKET COSTS FOR 7186 05:44:10,930 --> 05:44:11,130 PATIENTS. 7187 05:44:11,197 --> 05:44:13,399 SO WE DO NEED TO FOCUS ON THESE 7188 05:44:13,466 --> 05:44:15,234 TREATMENT OPTIONS THAT HELP TO 7189 05:44:15,301 --> 05:44:17,203 REDUCE THE DISEASE BURDEN 7190 05:44:17,269 --> 05:44:19,405 PARTICULARLY FOR THOSE SEVERE 7191 05:44:19,472 --> 05:44:24,043 FORMS OF THE DISEASE. 7192 05:44:24,110 --> 05:44:26,479 HOW DO WE TREAT THIS DISEASE. 7193 05:44:26,545 --> 05:44:29,181 WE HAVE A TOTAL OF FOUR FDA 7194 05:44:29,248 --> 05:44:29,615 APPROVED DRUGS. 7195 05:44:29,682 --> 05:44:32,284 THREE OF WHICH WERE JUST 7196 05:44:32,351 --> 05:44:33,386 APPROVED IN THE RECENT YEARS. 7197 05:44:33,452 --> 05:44:35,021 THESE HAVE THEIR LIMITATIONS. 7198 05:44:35,087 --> 05:44:38,290 YOU HAVE TO TAKE THEM EVERY DAY 7199 05:44:38,357 --> 05:44:39,959 AND HAVE TO CHRONICALLY MONITOR 7200 05:44:40,026 --> 05:44:41,627 THEM AND ALWAYS ISSUE WITH 7201 05:44:41,694 --> 05:44:43,129 ADHERENCE AND THEY'RE NOT ALL 7202 05:44:43,195 --> 05:44:44,930 EFFECTIVE AND ARE EXPENSIVE. 7203 05:44:44,997 --> 05:44:47,666 WE CAN POTENTIALLY CURE SOMEBODY 7204 05:44:47,733 --> 05:44:49,402 WITH SICKLE CELL DISEASE DOING A 7205 05:44:49,468 --> 05:44:53,773 BONE MARROW TRANSPLANT. 7206 05:44:53,839 --> 05:44:57,443 IT'S CURATIVE BUT COMES WITH 7207 05:44:57,510 --> 05:44:58,444 MORBIDITY AND MORTALITY. 7208 05:44:58,511 --> 05:45:01,881 WE'RE TALKING ABOUT REPLACING OR 7209 05:45:01,947 --> 05:45:03,282 REPLACING THE STEM CELLS YOU 7210 05:45:03,349 --> 05:45:05,151 HEARD ABOUT. 7211 05:45:05,217 --> 05:45:06,419 WE HAD A LOT OF EXPERIENCE 7212 05:45:06,485 --> 05:45:09,288 DEFERRAL DECADES OF DOING THE 7213 05:45:09,355 --> 05:45:10,289 TRANSPLANT USING DONOR STEM 7214 05:45:10,356 --> 05:45:11,290 CELLS. 7215 05:45:11,357 --> 05:45:12,958 WE KNOW THE BEST OUTCOMES IS IF 7216 05:45:13,025 --> 05:45:15,494 YOU HAVE A MATCHED BROTHER OR 7217 05:45:15,561 --> 05:45:17,229 SISTER OR YOUNGER BECAUSE OF 7218 05:45:17,296 --> 05:45:18,764 LESS ORGAN DAMAGE FROM THE 7219 05:45:18,831 --> 05:45:19,265 SICKLE CELL DISEASE. 7220 05:45:19,331 --> 05:45:23,536 THERE'S SIGNIFICANT LIMITATION 7221 05:45:23,602 --> 05:45:23,769 TO THIS. 7222 05:45:23,836 --> 05:45:24,804 ONLY A SMALL FRACTION OF PATIENT 7223 05:45:24,870 --> 05:45:27,907 HAVE A MATCHED SIBLING. 7224 05:45:27,973 --> 05:45:30,576 THERE'S DISEASE CAN LEAD TO 7225 05:45:30,643 --> 05:45:30,776 DEATH. 7226 05:45:30,843 --> 05:45:36,449 PATIENTS CAN REJECT THEIR GRAFT 7227 05:45:36,515 --> 05:45:40,553 AND POTENTIAL MORBIDITY AND 7228 05:45:40,619 --> 05:45:41,420 MORTALITY. 7229 05:45:41,487 --> 05:45:44,723 IN GENE THERAPY WE TAKE THE 7230 05:45:44,790 --> 05:45:47,660 PATIENT'S OWN CELLS AND MODIFIED 7231 05:45:47,726 --> 05:45:48,661 THEM CAN LIMIT THIS. 7232 05:45:48,727 --> 05:45:52,364 HOW'S IT DIFFERENT FROM A DONOR 7233 05:45:52,431 --> 05:45:52,832 TRANSPLANT. 7234 05:45:52,898 --> 05:45:53,933 IN SICKLE CELL IT TAKES A LITTLE 7235 05:45:53,999 --> 05:45:55,234 BIT LONGER FOR PATIENT TO GOOD 7236 05:45:55,301 --> 05:45:56,335 THROUGH THIS PROCESS. 7237 05:45:56,402 --> 05:46:01,607 WE PUT THEM ON CHRONIC TRAN 7238 05:46:01,674 --> 05:46:02,875 FUSIONS, COLLECT THE STEM CELLS 7239 05:46:02,942 --> 05:46:05,211 AND PUT THEM BACK AND THE 7240 05:46:05,277 --> 05:46:06,879 PATIENT NEEDS TO RECEIVE SOME 7241 05:46:06,946 --> 05:46:09,582 FORM OF CONDITIONS AND THE CELLS 7242 05:46:09,648 --> 05:46:15,521 GET IN FUSED AND IN THE DONOR 7243 05:46:15,588 --> 05:46:17,690 PLANS TRANSPLANT YOU INFUSE THE 7244 05:46:17,756 --> 05:46:18,557 DONOR CELLS. 7245 05:46:18,624 --> 05:46:19,758 THERE'S DIFFERENCES. 7246 05:46:19,825 --> 05:46:25,231 IN 2024 WE USED HIGH DOSES OF 7247 05:46:25,297 --> 05:46:27,500 CHE 7248 05:46:27,566 --> 05:46:31,203 CHEMOTHERAPY AND IT CAN INCLUDE 7249 05:46:31,270 --> 05:46:33,772 A DONOR TRANSPLANT AND NO IMMUNE 7250 05:46:33,839 --> 05:46:36,542 , NO GDHB OR REJECTION. 7251 05:46:36,609 --> 05:46:41,180 IN DECEMBER OF LAST YEAR THE FAA 7252 05:46:41,247 --> 05:46:45,317 APPROVED TWO GENE THERAPIES TO 7253 05:46:45,384 --> 05:46:50,823 TREAT PATIENTS WITH SICKLE CELL 7254 05:46:50,890 --> 05:46:53,425 DISEASE AND ONE IS THE FIRST 7255 05:46:53,492 --> 05:46:55,461 CRISPR APPROVED GENE THERAPY FOR 7256 05:46:55,528 --> 05:47:04,503 ANY DISORDER. 7257 05:47:04,570 --> 05:47:05,771 IT'S A MILESTONE. 7258 05:47:05,838 --> 05:47:07,473 IT'S BEEN DECADES IN THE MAKING 7259 05:47:07,540 --> 05:47:08,607 THAT WE STILL HAVE A LOT OF WORK 7260 05:47:08,674 --> 05:47:11,243 TO DO TO MAKE IT SAFER, TO MAKE 7261 05:47:11,310 --> 05:47:15,748 IT MORE ACCESSIBLE, MORE 7262 05:47:15,814 --> 05:47:16,048 AFFORDABLE. 7263 05:47:16,115 --> 05:47:19,485 THE FIRST TRIAL OPENED IN 2014 7264 05:47:19,552 --> 05:47:22,154 AND THE FIRST TRIAL FOR CRISPR 7265 05:47:22,221 --> 05:47:24,957 CAS 9 WITHIN 2018. 7266 05:47:25,024 --> 05:47:25,791 WE'RE TALKING ABOUT SMALL 7267 05:47:25,858 --> 05:47:28,661 NUMBERS OF PATIENTS WITH LIMITED 7268 05:47:28,727 --> 05:47:29,261 FOLLOW UP. 7269 05:47:29,328 --> 05:47:31,230 HOW'S THIS EVOLVED OVER TIME. 7270 05:47:31,297 --> 05:47:33,999 THE FIRST ITERATION OF GENE 7271 05:47:34,066 --> 05:47:35,901 THERAPY USED VIRUSES, HIV-BASED 7272 05:47:35,968 --> 05:47:38,037 VIRUS WHERE WE TOOK OUT ALL THE 7273 05:47:38,103 --> 05:47:41,941 BAD PARTS OF HIV INCLUDED A COPY 7274 05:47:42,007 --> 05:47:46,445 OF NORMAL HEMOGLOBIN AND 7275 05:47:46,512 --> 05:47:48,981 INSERTED THAT INTO THE PATIENT'S 7276 05:47:49,048 --> 05:47:51,016 STEM CELLS AND THES CRISPR CAS 9 7277 05:47:51,083 --> 05:47:54,954 IS FOCUSSED ON INCREASING LEVEL 7278 05:47:55,020 --> 05:47:57,656 OF FETAL HEMOGLOBIN WHICH IS 7279 05:47:57,723 --> 05:47:59,558 PROTECTIVE IN PATIENTS WITH 7280 05:47:59,625 --> 05:48:00,559 SICKLE CELL DISEASE. 7281 05:48:00,626 --> 05:48:03,495 WE'VE LEARNED QUITE A GREAT 7282 05:48:03,562 --> 05:48:05,898 AMOUNT FROM THE CLINICAL TRIALS. 7283 05:48:05,965 --> 05:48:08,467 WE LEARNED WE HAD TO DO THIS 7284 05:48:08,534 --> 05:48:12,271 PERIOD OF TRANSFUSIONS. 7285 05:48:12,338 --> 05:48:16,008 WE HAD TO STOP AND THE MAIN TYPE 7286 05:48:16,075 --> 05:48:17,710 OF THERAPY AND IT MATTERED HOW 7287 05:48:17,776 --> 05:48:23,282 MUCH WE GAVE AND HOW WE 7288 05:48:23,349 --> 05:48:23,616 MANUFACTURED. 7289 05:48:23,682 --> 05:48:26,385 WE SAW CHANGES AND IN THE FIRST 7290 05:48:26,452 --> 05:48:31,590 PATIENTS THEY DID NOT HAVE 7291 05:48:31,657 --> 05:48:42,101 CLINICAL BENEFITS AND IT 7292 05:48:43,602 --> 05:48:44,503 ULTIMATELY LED TO WHAT IS 7293 05:48:44,570 --> 05:48:48,607 AVAILABLE TO ALL PATIENTS WHO 7294 05:48:48,674 --> 05:48:50,309 WOULD OTHERWISE QUALIFY FOR 7295 05:48:50,376 --> 05:48:52,244 TRANSPLANTATION AND WE RESERVED 7296 05:48:52,311 --> 05:48:54,179 THIS FOR PATIENTS THAT WITH 7297 05:48:54,246 --> 05:48:55,481 SEVERE DISEASE COMPLICATIONS. 7298 05:48:55,547 --> 05:48:59,485 SO THE CLINICAL STUDIES THAT 7299 05:48:59,551 --> 05:49:02,488 WE'RE DESCRIBING HAVE STRICT 7300 05:49:02,554 --> 05:49:04,023 INCLUSIONARY, EXCLUSIONARY 7301 05:49:04,089 --> 05:49:04,290 CRITERIA. 7302 05:49:04,356 --> 05:49:07,459 IN GENERAL INCLUDING PATIENTS 7303 05:49:07,526 --> 05:49:15,501 THAT HAD REOCCURRENCE OF VASO 7304 05:49:15,567 --> 05:49:20,339 OCCLUSIVE EVENTS IN THE YEARS 7305 05:49:20,406 --> 05:49:22,541 LEADING UP TO TRANSPLANT AND HAD 7306 05:49:22,608 --> 05:49:24,376 AN HLA MATCHED SIBLING BECAUSE 7307 05:49:24,443 --> 05:49:25,477 OF THE HISTORY AND TIME WE'VE 7308 05:49:25,544 --> 05:49:27,479 KNOWN WITH GOOD OUTCOMES WITH 7309 05:49:27,546 --> 05:49:31,450 DONOR TRANSPLANT FROM A SLING 7310 05:49:31,517 --> 05:49:33,786 THEY EXCLUDED PATIENTS WITH 7311 05:49:33,852 --> 05:49:34,453 NEUROVASCULAR COMPLICATIONS AN 7312 05:49:34,520 --> 05:49:35,487 OTHERS IT'S IMPORTANT THE 7313 05:49:35,554 --> 05:49:41,827 PATIENTS WERE ABLE TO TOLERATE 7314 05:49:41,894 --> 05:49:44,330 THE CONDITIONS NOT ALL ARE ABLE 7315 05:49:44,396 --> 05:49:46,298 TO TOLERATE GIVEN THE TOXICITY 7316 05:49:46,365 --> 05:49:48,400 THAT CAN OCCUR TO ORGAN 7317 05:49:48,467 --> 05:49:48,667 FUNCTIONS. 7318 05:49:48,734 --> 05:49:52,137 PATIENTS NEED TO KNOW WITH THE 7319 05:49:52,204 --> 05:49:53,172 SHORT TERM TOXICITY OF USING 7320 05:49:53,238 --> 05:49:56,175 THIS AND HAIR LOSS AND INFECTION 7321 05:49:56,241 --> 05:50:01,080 AND LONG-TERM THE PATIENTS HAVE 7322 05:50:01,146 --> 05:50:04,416 A RISK OF SECONDARY MALIGNANCIES 7323 05:50:04,483 --> 05:50:08,921 AND BEING INFERTILE. 7324 05:50:08,987 --> 05:50:11,056 ABOUT 30 PATIENTS WERE IN EACH 7325 05:50:11,123 --> 05:50:15,327 STUDY THAT WERE EVALUATED BY THE 7326 05:50:15,394 --> 05:50:17,429 FDA PRIMARILY THE GENOTYPE AND 7327 05:50:17,496 --> 05:50:19,965 AVERAGE AGE WAS ABOUT 20 AND A 7328 05:50:20,032 --> 05:50:23,135 QUARTER IN EACH STUDY IN THE 7329 05:50:23,202 --> 05:50:24,970 ADOLESCENT POPULATION AND 7330 05:50:25,037 --> 05:50:26,572 OUTCOMES SHOWED IN BOTH STUDIES 7331 05:50:26,638 --> 05:50:29,575 94% OF PATIENTS HAD COMPLETE 7332 05:50:29,641 --> 05:50:32,644 RESOLUTION OF THOSE VASO 7333 05:50:32,711 --> 05:50:35,481 OCCLUSIVE EVENTS LEADING UP TO 7334 05:50:35,547 --> 05:50:35,781 TRANSPLANT. 7335 05:50:35,848 --> 05:50:39,351 THE HEMOGLOBIN WAS NORMALIZED 7336 05:50:39,418 --> 05:50:42,054 AND FOLLOW UP WAS 5 YEARS AND 7337 05:50:42,121 --> 05:50:43,789 THIS IS SHOWING EACH HORIZONTAL 7338 05:50:43,856 --> 05:50:47,426 LINE SAY PATIENT AND EACH OF 7339 05:50:47,493 --> 05:50:50,896 THOSE DOTS REPRESENTS AN EVENT 7340 05:50:50,963 --> 05:50:52,564 SUCH AS PAIN CRISIS AND YOU SEE 7341 05:50:52,631 --> 05:50:55,467 MANY LEADING UP TO TRANSPLANT 7342 05:50:55,534 --> 05:50:58,270 AND SIGNIFICANT REDUCTION AFTER 7343 05:50:58,337 --> 05:50:58,837 GENE THERAPY. 7344 05:50:58,904 --> 05:51:00,706 THESE PATIENTS REPORTED 7345 05:51:00,773 --> 05:51:01,507 CLINICALLY MEANINGFUL 7346 05:51:01,573 --> 05:51:05,210 IMPROVEMENTS AN THEIR PAIN 7347 05:51:05,277 --> 05:51:07,179 INTENSITY AND INTERFERENCE OF 7348 05:51:07,246 --> 05:51:08,981 FATIGUE SUSTAINED OVER TIME. 7349 05:51:09,047 --> 05:51:11,884 HALF THEIR HEMOGLOBIN WAS COMING 7350 05:51:11,950 --> 05:51:19,191 FROM THIS INSERTED NORMAL 7351 05:51:19,258 --> 05:51:21,493 HEMOGLOBIN GIVEN NORMAL 7352 05:51:21,560 --> 05:51:26,198 HEMOGLOBIN AND THE ANEMIA 7353 05:51:26,265 --> 05:51:26,465 IMPROVED. 7354 05:51:26,532 --> 05:51:29,301 SUE MANY LEADING UP TO TRANS 7355 05:51:29,368 --> 05:51:30,836 PLANT AND EITHER COMPLETE 7356 05:51:30,903 --> 05:51:32,271 ELIMINATION OR SIGNIFICANT 7357 05:51:32,337 --> 05:51:34,573 REDUCTION AFTER GENE THERAPY 7358 05:51:34,640 --> 05:51:36,809 WITH TOTAL HEMOGLOBIN 7359 05:51:36,875 --> 05:51:39,511 NORMALIZING AND SUSTAINING OVER 7360 05:51:39,578 --> 05:51:42,381 TIME HALF COMING FROM NORMAL 7361 05:51:42,448 --> 05:51:43,916 FETAL HEMOGLOBIN INDUCTION GOING 7362 05:51:43,982 --> 05:51:47,786 FROM 15% TO 40% SUSTAINED OVER 7363 05:51:47,853 --> 05:51:47,986 TIME. 7364 05:51:48,053 --> 05:51:50,289 NOW, OF COURSE WE HAVE TO TALK 7365 05:51:50,355 --> 05:51:55,727 ABOUT SAFETY SO THE MAJOR EVENTS 7366 05:51:55,794 --> 05:51:58,497 OCCURRED SECONDARY TO 7367 05:51:58,564 --> 05:51:59,097 CHEMOTHERAPY AND SICKLE CELL 7368 05:51:59,164 --> 05:52:01,133 DISEASE AND MOST EVENTS WERE 7369 05:52:01,200 --> 05:52:02,734 OCCURRING DURING THE TRANSPLANT 7370 05:52:02,801 --> 05:52:03,502 MONTH RECEIVING CHEMO. 7371 05:52:03,569 --> 05:52:08,240 THERE WERE NO CASES OF PATIENTS 7372 05:52:08,307 --> 05:52:09,041 REJECTING THE GRAPH OR GETTING 7373 05:52:09,107 --> 05:52:11,510 DISEASE THAT USE THE HIV-BASED 7374 05:52:11,577 --> 05:52:11,810 VECTOR. 7375 05:52:11,877 --> 05:52:13,979 THE PATIENTS DON'T HAVE HIV AS 7376 05:52:14,046 --> 05:52:15,547 WE TAKE OUT ALL THOSE BAD PARTS 7377 05:52:15,614 --> 05:52:19,485 AND INSERT WHAT WE WANT THE 7378 05:52:19,551 --> 05:52:23,355 NORMAL HEMOGLOBIN AND THERE'S 7379 05:52:23,422 --> 05:52:26,325 PATIENTS WHO ARE TWO GENE 7380 05:52:26,391 --> 05:52:28,994 DELETIONS WHO SHOULD NOT RECEIVE 7381 05:52:29,061 --> 05:52:29,228 IT. 7382 05:52:29,294 --> 05:52:35,434 WE HAVE REPORTED PARTNER 7383 05:52:35,501 --> 05:52:45,210 PREGNANCIES AFTER THIS AND A 7384 05:52:45,277 --> 05:52:47,513 WORD ON SECONDARY CANCER AFTER 7385 05:52:47,579 --> 05:52:48,614 GENE THERAPY IN SICKLE CELL 7386 05:52:48,680 --> 05:52:48,847 DISEASE. 7387 05:52:48,914 --> 05:52:50,883 THIS OCCURRED IN TWO PATIENTS 7388 05:52:50,949 --> 05:52:53,185 FROM THE GROUP A OF THE STUDY 7389 05:52:53,252 --> 05:52:55,787 THAT OCCURRED EARLY ON WHEN GENE 7390 05:52:55,854 --> 05:52:58,357 THERAPY WAS INEFFECTIVE. 7391 05:52:58,423 --> 05:52:59,758 THE WHOLE FIELD PAUSED TO 7392 05:52:59,825 --> 05:53:04,596 REFLECT ON WHAT WAS UNIQUE ABOUT 7393 05:53:04,663 --> 05:53:07,432 THIS DISEASE AND REALIZED 7394 05:53:07,499 --> 05:53:08,200 PATIENTS WITH SICKLE CELL 7395 05:53:08,267 --> 05:53:09,968 DISEASE ARE AT SLIGHTLY HIGHER 7396 05:53:10,035 --> 05:53:13,972 RISK OF AML AT BASELINE AND THE 7397 05:53:14,039 --> 05:53:16,675 TRANSPLANT IS TOXIC AND PATIENTS 7398 05:53:16,742 --> 05:53:19,344 MAY HAVE PREEXISTING CANCER 7399 05:53:19,411 --> 05:53:19,611 MUTATIONS. 7400 05:53:19,678 --> 05:53:23,215 PATIENTS WHO REJECT THEIR GRAFT 7401 05:53:23,282 --> 05:53:25,417 MAY GO ON TO DELIVER LEUKEMIA AS 7402 05:53:25,484 --> 05:53:26,051 WELL. 7403 05:53:26,118 --> 05:53:28,453 IF PATIENTS REJECT THEIR GRAPH 7404 05:53:28,520 --> 05:53:35,294 OR THERAPY HAS BEEN INEFFECTIVE 7405 05:53:35,360 --> 05:53:38,130 THE STEM CELLS REVERTING MAY 7406 05:53:38,196 --> 05:53:38,697 DRIVE CANCER CELLS. 7407 05:53:38,764 --> 05:53:40,732 WE BELIEVE THE PATIENTS WITH 7408 05:53:40,799 --> 05:53:42,968 EFFECTIVE GENE THERAPY WOULD BE 7409 05:53:43,035 --> 05:53:43,635 AT LOWER RISK FOR DEVELOP 7410 05:53:43,702 --> 05:53:54,012 SECONDARY CANCER. 7411 05:53:55,080 --> 05:53:59,017 BECAUSE OF LYFGENIA THE RISK OF 7412 05:53:59,084 --> 05:54:00,385 ALL SICKLE CELL DISEASES WHO 7413 05:54:00,452 --> 05:54:01,920 UNDER GO THESE THERAPIES IS WHY 7414 05:54:01,987 --> 05:54:05,457 THEY HAVE TO BE FOLLOWED FOR A 7415 05:54:05,524 --> 05:54:06,792 LONG TIME AND THESE ARE OPEN 7416 05:54:06,858 --> 05:54:07,492 CLINICAL TRIALS FOR SICKLE CELL 7417 05:54:07,559 --> 05:54:07,726 DISEASE. 7418 05:54:07,793 --> 05:54:09,595 WE STILL HAVE UNANSWERED 7419 05:54:09,661 --> 05:54:10,696 QUESTIONS AND AGE GROUPS THAT 7420 05:54:10,762 --> 05:54:13,465 HAVEN'T BEEN TESTED. 7421 05:54:13,532 --> 05:54:16,301 THIS IS ALSO SHOWING THE MANY 7422 05:54:16,368 --> 05:54:17,836 QUESTIONS PATIENTS WITH US SEE 7423 05:54:17,903 --> 05:54:21,139 IF THERE IS AN UNDERLYING 7424 05:54:21,206 --> 05:54:22,507 MALIGNANCY MUTATION AND CAN WE 7425 05:54:22,574 --> 05:54:26,111 AFFORD IT AND CAN PATIENTS 7426 05:54:26,178 --> 05:54:28,213 AFFORD THE FERTILITY AND CRYO 7427 05:54:28,280 --> 05:54:29,381 PRESERVATION AND WE FEEL WE 7428 05:54:29,448 --> 05:54:31,216 SHOULD BE TRANSFORMATIVE INSTEAD 7429 05:54:31,283 --> 05:54:34,553 OF CURATIVE UNTIL WE HAVE 7430 05:54:34,620 --> 05:54:36,421 LONG-TERM DATA ON ORGAN FUNCTION 7431 05:54:36,488 --> 05:54:41,193 AND DURE ABILITY DURABILITY AND 7432 05:54:41,259 --> 05:54:45,330 WHAT MAY BE BEST FOR PATIENTS. 7433 05:54:45,397 --> 05:54:46,965 TRANSFORMATIVE THERAPY IS HERE 7434 05:54:47,032 --> 05:54:49,267 AND EXCITING AND FEEL PATIENTS 7435 05:54:49,334 --> 05:54:51,403 SHOULD STILL HAVE ACCESS TO 7436 05:54:51,470 --> 05:54:52,938 CLINICAL TRIALS AND APPROVALS 7437 05:54:53,005 --> 05:54:58,176 WITH DECADES OF , FA FIVE TO 10 7438 05:54:58,243 --> 05:54:59,478 YEARS OF CLINICAL TRIAL AND 7439 05:54:59,544 --> 05:55:02,180 THOSE WHO RISK THEIR LIVES, 7440 05:55:02,247 --> 05:55:03,882 HEALTH, FERTILITY AND TIME TO 7441 05:55:03,949 --> 05:55:05,984 ADVANCE THIS. 7442 05:55:06,051 --> 05:55:07,619 I'LL CLOSE WITH A MOVING MESSAGE 7443 05:55:07,686 --> 05:55:10,322 FROM A PATIENT. 7444 05:55:10,389 --> 05:55:13,959 >> HELLO, EVERYBODY. 7445 05:55:14,026 --> 05:55:20,132 MY NASN MASON AND I'M 20 YEARS 7446 05:55:20,198 --> 05:55:24,269 OLD AND BORN WITH AN S TYPE OF 7447 05:55:24,336 --> 05:55:25,203 SICKLE CELL DISEASE AND HAVE 7448 05:55:25,270 --> 05:55:28,807 UNDER GONE THERAPY ON JANUARY 9 7449 05:55:28,874 --> 05:55:30,075 OF 2023. 7450 05:55:30,142 --> 05:55:31,543 I WANT TO START WITH A LITTLE 7451 05:55:31,610 --> 05:55:37,282 BIT ABOUT HOW I GOT INVOLVED 7452 05:55:37,349 --> 05:55:39,418 WITH THIS CLINICAL TRIAL. 7453 05:55:39,484 --> 05:55:41,153 MY JOURNEY STARTS AS A 7454 05:55:41,219 --> 05:55:42,554 3-MONTH-OLD BABY HAVING MY FIRST 7455 05:55:42,621 --> 05:55:47,459 PAIN CRISIS. 7456 05:55:47,526 --> 05:55:51,463 THIS IS WHERE I WOULD BE 7457 05:55:51,530 --> 05:55:52,130 DIAGNOSED WITH SICKLE CELL 7458 05:55:52,197 --> 05:55:57,469 DISEASE AND SHOWING NARROWING IN 7459 05:55:57,536 --> 05:55:58,770 SOME OF THE BLOOD VESSELS IN MY 7460 05:55:58,837 --> 05:56:01,506 BRAIN PUTTING ME AT RISK OF A 7461 05:56:01,573 --> 05:56:03,475 STROKE. 7462 05:56:03,542 --> 05:56:06,445 I WOULD START ONCE A MONTH BLOOD 7463 05:56:06,511 --> 05:56:08,914 TRANSFUSIONS AT THE AGE OF 8 AND 7464 05:56:08,980 --> 05:56:11,049 STAY ON THESE UNTIL I TURNED 7465 05:56:11,116 --> 05:56:11,316 ABOUT 17. 7466 05:56:11,383 --> 05:56:14,252 AND WITH THE TRANSFUSIONS MY 7467 05:56:14,319 --> 05:56:19,458 SICKLE CELL WAS PRETTY WELL 7468 05:56:19,524 --> 05:56:28,100 MANAGED AND I WOULD ONLY HAVE A 7469 05:56:28,166 --> 05:56:29,501 PAIN CRISIS ONCE OR TWICE A YEAR 7470 05:56:29,568 --> 05:56:31,503 TO THE EMERGENCY ROOM BUT 7471 05:56:31,570 --> 05:56:33,939 EVERYTHING CHANGED ONCE I CAME 7472 05:56:34,005 --> 05:56:37,576 AFTER THE TRANSFUSIONS AND 7473 05:56:37,642 --> 05:56:41,513 STARTED MY FRESHMAN YEAR OF 7474 05:56:41,580 --> 05:56:42,247 COLLEGE. 7475 05:56:42,314 --> 05:56:45,183 MY CONDITIONS HEALED PRETTY 7476 05:56:45,250 --> 05:56:45,484 FAST. 7477 05:56:45,550 --> 05:56:46,918 I WOULD GO FROM BEING IN THE 7478 05:56:46,985 --> 05:56:49,888 EMERGENCY ROOM ONCE OR TWICE A 7479 05:56:49,955 --> 05:56:55,460 YEAR TO FOUR TO FIVE TIMES A 7480 05:56:55,527 --> 05:57:00,665 MONTH AND THIS IS DIFFERENT AND 7481 05:57:00,732 --> 05:57:02,934 BECAUSE MY CONDITION GOT SO BAD 7482 05:57:03,001 --> 05:57:05,337 SO QUICKLY I COULDN'T GO TO 7483 05:57:05,403 --> 05:57:07,539 SCHOOL ANYMORE AND GO TO CLASSES 7484 05:57:07,606 --> 05:57:12,077 THOUGH IT'S 10 MINUTES AWAY AND 7485 05:57:12,144 --> 05:57:12,911 COULDN'T LIFT ANYTHING HEAVY 7486 05:57:12,978 --> 05:57:14,780 EVERYTHING I DID WAS A TRIGGER 7487 05:57:14,846 --> 05:57:15,447 FOR MY SICKLE CELL. 7488 05:57:15,514 --> 05:57:18,316 LY WAS WALKING OR BEING OUTSIDE 7489 05:57:18,383 --> 05:57:21,620 TOO LONG IN THE IN THE COLD OR 7490 05:57:21,686 --> 05:57:23,755 BEING TOO HOT MY BODY EVERYTHING 7491 05:57:23,822 --> 05:57:25,557 WAS A TRIGGER. 7492 05:57:25,624 --> 05:57:31,163 I COULDN'T DO ANYTHING. 7493 05:57:31,229 --> 05:57:35,500 AROUND THE SAME TIME I HAD A 7494 05:57:35,567 --> 05:57:39,304 FRIEND IN TRINIDAD WHO ALSO HAD 7495 05:57:39,371 --> 05:57:40,105 SICKLE CELL DISEASE BUT 7496 05:57:40,172 --> 05:57:41,339 UNFORTUNATELY PASSED TO HER 7497 05:57:41,406 --> 05:57:45,477 DISEASE AND THE MOMENT MY 7498 05:57:45,544 --> 05:57:47,112 DOCTORS HEARD THIS NEWS THEY 7499 05:57:47,179 --> 05:57:48,747 WOULD IMMEDIATELY GO AND CONTACT 7500 05:57:48,814 --> 05:57:50,882 THE DOCTORS AT CHILDREN'S 7501 05:57:50,949 --> 05:57:55,520 NATIONAL ABOUT GETTING ME ON TO 7502 05:57:55,587 --> 05:57:58,123 THE GENE THERAPY TRIAL. 7503 05:57:58,190 --> 05:58:01,393 I SPENT MOST MY 2022 GETTING 7504 05:58:01,459 --> 05:58:03,361 READY FOR A TRANSPLANT WHETHER 7505 05:58:03,428 --> 05:58:07,499 THAT WAS GOING BACK AND FORTH TO 7506 05:58:07,566 --> 05:58:10,168 D.C. APPOINTMENTS OR TESTING. 7507 05:58:10,235 --> 05:58:11,536 JUST MAKING SURE EVERYTHING WAS 7508 05:58:11,603 --> 05:58:15,473 IN LINE AND CORRECT BEFORE I 7509 05:58:15,540 --> 05:58:17,442 STARTED TRANSPLANT BUT ONCE I 7510 05:58:17,509 --> 05:58:19,477 GOT PASSED ALL THAT I WAS 7511 05:58:19,544 --> 05:58:24,850 FINALLY ADMITTED JANUARY 2 OF 7512 05:58:24,916 --> 05:58:25,383 2023. 7513 05:58:25,450 --> 05:58:27,485 THE FOLLOWING DAY I'D START MY 7514 05:58:27,552 --> 05:58:30,689 CHEMOTHERAPY WHICH INTENDED TO 7515 05:58:30,755 --> 05:58:34,259 GET ME READY FOR MY NEW CELLS. 7516 05:58:34,326 --> 05:58:37,295 AFTER MY FIVE DAYS OF 7517 05:58:37,362 --> 05:58:38,530 CHEMOTHERAPY I WOULD HAVE ONE 7518 05:58:38,597 --> 05:58:43,335 REST DAY AND GIVEN MY NEW CELLS 7519 05:58:43,401 --> 05:58:47,906 ON THAT NIGHT COLLECTED FROM A 7520 05:58:47,973 --> 05:58:48,440 PRIOR APPOINTMENT. 7521 05:58:48,506 --> 05:58:51,142 IT WAS AN EXCITING DAY AND I 7522 05:58:51,209 --> 05:58:53,612 STILL THINK ABOUT IT PRETTY 7523 05:58:53,678 --> 05:58:54,279 OFTEN HONESTLY. 7524 05:58:54,346 --> 05:58:56,448 I'LL GO ON AND WAIT FOR MY CELLS 7525 05:58:56,514 --> 05:59:02,621 TO ENGRAPH FOR THE NEXT THREE 7526 05:59:02,687 --> 05:59:07,058 WEEKS AND THEN AFTER THEY 7527 05:59:07,125 --> 05:59:16,167 INGRAFT I WAS SENT TO ANOTHER 7528 05:59:16,234 --> 05:59:17,469 HOSPITAL FOR THREE WEEKS AND 7529 05:59:17,535 --> 05:59:18,336 FINALLY SENT BACK HOME. 7530 05:59:18,403 --> 05:59:22,841 NOW, I WANT TO TALK ABOUT HOW I 7531 05:59:22,908 --> 05:59:24,743 FEEL AFTER RECEIVING THE GENE 7532 05:59:24,809 --> 05:59:25,543 THERAPY. 7533 05:59:25,610 --> 05:59:29,414 NOW, MY BASELINE HEMOGLOBIN 7534 05:59:29,481 --> 05:59:30,015 WITHOUT TAKING ANYTHING WAS 7535 05:59:30,081 --> 05:59:34,819 ABOUT 7.0. 7536 05:59:34,886 --> 05:59:37,555 AND WITH HIGH DROXERIA I COULD 7537 05:59:37,622 --> 05:59:47,933 GET UP TO 8.5, 9. 7538 05:59:48,767 --> 05:59:51,469 NOW, POST TRANSPLANT MY 7539 05:59:51,536 --> 05:59:54,739 HEMOGLOBIN IS AT 14.0 WHICH 7540 05:59:54,806 --> 05:59:58,710 IS -- I MEAN, I'M EFFECTIVELY 7541 05:59:58,777 --> 06:00:01,313 DOUBLED MY HEMOGLOBIN SINCE 7542 06:00:01,379 --> 06:00:02,480 RECEIVING GLEAN THERAPY. 7543 06:00:02,547 --> 06:00:07,419 I WANT TO REMIND YOU GUYS THAT 7544 06:00:07,485 --> 06:00:09,788 BEFORE TRANSPLANT I COULDN'T DO 7545 06:00:09,854 --> 06:00:10,055 ANYTHING. 7546 06:00:10,121 --> 06:00:13,558 I FELT LIKE JUST BEING ALIVE WAS 7547 06:00:13,625 --> 06:00:17,062 A TRIGGER FOR MY SICKLE CELL. 7548 06:00:17,128 --> 06:00:19,464 I COULDN'T LIFT ANYTHING, I 7549 06:00:19,531 --> 06:00:22,701 COULD NOT BE TOO HOT OR TOO 7550 06:00:22,767 --> 06:00:24,035 COLD. 7551 06:00:24,102 --> 06:00:25,870 I COULDN'T WALK ANYWHERE. 7552 06:00:25,937 --> 06:00:27,405 I COULDN'T GO ANYWHERE WITHOUT 7553 06:00:27,472 --> 06:00:31,476 HAVING MY MEDICATION ON ME JUST 7554 06:00:31,543 --> 06:00:34,512 TO FEEL SECURE. 7555 06:00:34,579 --> 06:00:35,480 NOW ALL THAT DISAPPEARED AND HAS 7556 06:00:35,547 --> 06:00:41,086 GONE AWAY. 7557 06:00:41,152 --> 06:00:45,757 AND I'M STILL NOT USED TO IT 7558 06:00:45,824 --> 06:00:48,660 REALLY BECAUSE I'VE LIVED MY 7559 06:00:48,727 --> 06:00:53,164 ENTIRE LIFE IN PAIN WITH 7560 06:00:53,231 --> 06:00:54,899 MEDICATION AND WITH THIS THOUGHT 7561 06:00:54,966 --> 06:00:56,901 OF SICKLE CELL UP MY HEAD IN 7562 06:00:56,968 --> 06:00:59,471 EVERY DECISION I MADE WAS WITH 7563 06:00:59,537 --> 06:01:00,405 ME EVERYWHERE. 7564 06:01:00,472 --> 06:01:02,440 NOW THAT I HAVE GONE THROUGH 7565 06:01:02,507 --> 06:01:06,544 GENE THERAPY AND TRANSPLANT THE 7566 06:01:06,611 --> 06:01:07,879 THOUGHT IS GONE. 7567 06:01:07,946 --> 06:01:11,516 I CAN DO PRETTY MUCH ANYTHING 7568 06:01:11,583 --> 06:01:13,551 NOW HONESTLY. 7569 06:01:13,618 --> 06:01:15,954 I STARTED GOING TO THE GYM. 7570 06:01:16,021 --> 06:01:19,591 I'VE BEEN HANGING OUT WITH 7571 06:01:19,657 --> 06:01:20,191 FRIENDS MORE. 7572 06:01:20,258 --> 06:01:22,727 IT'S BEEN A YEAR AND ALMOST TWO 7573 06:01:22,794 --> 06:01:25,330 MONTHS NOW AND I'VE STILL HAD 7574 06:01:25,397 --> 06:01:27,499 ZERO PAIN SINCE TRANSPLANT. 7575 06:01:27,565 --> 06:01:28,400 ZERO PAIN. 7576 06:01:28,466 --> 06:01:33,605 IT'S AMAZING. 7577 06:01:33,671 --> 06:01:36,441 HONESTLY IT'S BEEN AMAZING. 7578 06:01:36,508 --> 06:01:38,910 I'M JUST NOT SITTING AROUND FOR 7579 06:01:38,977 --> 06:01:40,545 MY NEXT PAIN CRISIS ANYMORE AND 7580 06:01:40,612 --> 06:01:43,782 IT'S KIND OF UNBELIEVABLE FOR 7581 06:01:43,848 --> 06:01:49,320 ME. 7582 06:01:49,387 --> 06:01:50,955 THIS IS WHAT I'VE KNOWN MY WHOLE 7583 06:01:51,022 --> 06:01:56,728 LIFE BUT SECOND HALF IS -- 7584 06:01:56,795 --> 06:01:58,363 SICKLE CELL IS GONE AND PAIN IS 7585 06:01:58,430 --> 06:02:01,566 GONE AND NEXT WEEK I'LL BE DONE 7586 06:02:01,633 --> 06:02:03,568 WITH MEDICATION AND MY LIFE IS 7587 06:02:03,635 --> 06:02:08,139 COMPLETELY DIFFERENT. 7588 06:02:08,206 --> 06:02:09,441 IT'S IN EVERY WAY POSSIBLE. 7589 06:02:09,507 --> 06:02:11,743 QUALITY OF MY LIFE HAS GONE UP 7590 06:02:11,810 --> 06:02:15,947 SO MUCH. 7591 06:02:16,014 --> 06:02:16,815 I'M SO GRATEFUL. 7592 06:02:16,881 --> 06:02:19,484 IT'S AMAZING. 7593 06:02:19,551 --> 06:02:23,521 IT REALLY IS. 7594 06:02:23,588 --> 06:02:27,492 I WISH MORE PEOPLE WERE IN MY 7595 06:02:27,559 --> 06:02:29,094 SHOES AND IN MY OPPORTUNITY. 7596 06:02:29,160 --> 06:02:33,031 A TAKEAWAY FOR THE AUDIENCE IS 7597 06:02:33,098 --> 06:02:37,569 NUMBER ONE, TO BE AS PROACTIVE 7598 06:02:37,635 --> 06:02:39,437 AS POSSIBLE WITH YOUR HELP. 7599 06:02:39,504 --> 06:02:44,109 AND INSTEAD OF TRYING TO REACT 7600 06:02:44,175 --> 06:02:46,811 BECAUSE SICKLE CELL I FEEL LIKE 7601 06:02:46,878 --> 06:02:48,780 IF I WAS REACTING IT WAS ALREADY 7602 06:02:48,847 --> 06:02:51,483 TOO LATE FOR ME. 7603 06:02:51,549 --> 06:02:55,353 AND WHAT I MEAN BY THIS IS 7604 06:02:55,420 --> 06:03:01,059 SHOWING UP TO YOUR APPOINTMENTS 7605 06:03:01,126 --> 06:03:09,134 ON TIME. 7606 06:03:09,200 --> 06:03:11,035 TAKING MEDICATION BECAUSE I 7607 06:03:11,102 --> 06:03:13,138 DON'T WANT TO MISS APPOINTMENTS, 7608 06:03:13,204 --> 06:03:15,006 I TRIED NOT TO MISS MY 7609 06:03:15,073 --> 06:03:16,508 MEDICATION BECAUSE EVERY DAY I 7610 06:03:16,574 --> 06:03:19,077 MISSED A DOSE FELT LIKE ONE LESS 7611 06:03:19,144 --> 06:03:21,946 DAY I WAS HERE ON THIS EARTH. 7612 06:03:22,013 --> 06:03:26,217 AND HONESTLY MY MEDICATION KEPT 7613 06:03:26,284 --> 06:03:28,453 ME HEALTHY ENOUGH TO GO THROUGH 7614 06:03:28,520 --> 06:03:28,753 TRANSPLANT. 7615 06:03:28,820 --> 06:03:30,321 THAT'S IT. 7616 06:03:30,388 --> 06:03:33,358 IT WAS HONESTLY SUPER IMPORTANT. 7617 06:03:33,424 --> 06:03:35,293 THOUGH IT DOESN'T SEEM LIKE IT 7618 06:03:35,360 --> 06:03:38,696 OR IT'S HARD TAKING SOME OF 7619 06:03:38,763 --> 06:03:41,166 THESE PILLS AND MEDICINE, TRUST 7620 06:03:41,232 --> 06:03:43,401 ME, I KNOW. 7621 06:03:43,468 --> 06:03:47,639 IT'S SUPER, SUPER IMPORTANT. 7622 06:03:47,705 --> 06:03:48,540 IT REALLY IS. 7623 06:03:48,606 --> 06:03:50,108 MY LAST TAKEAWAY FOR THE 7624 06:03:50,175 --> 06:03:52,644 AUDIENCE IS TO KEEP YOUR FAITH. 7625 06:03:52,710 --> 06:03:56,114 AND TO KNOW THAT NO MATTER YOUR 7626 06:03:56,181 --> 06:03:59,851 SITUATION THAT THINGS WILL GET 7627 06:03:59,918 --> 06:04:01,352 BETTER. 7628 06:04:01,419 --> 06:04:06,191 THERE'S BEEN MANY TIMES IN MY 7629 06:04:06,257 --> 06:04:08,059 LIFE THAT I THOUGHT THINGS WOULD 7630 06:04:08,126 --> 06:04:11,029 NOT TURN OUT SO WELL OR THIS 7631 06:04:11,095 --> 06:04:19,571 WOULD BE THE END OF MY WORLD. 7632 06:04:19,637 --> 06:04:25,577 I'VE HAD SOME PRETTY SEVERE 7633 06:04:25,643 --> 06:04:31,382 PAIN. 7634 06:04:31,449 --> 06:04:34,419 I JUST SIT BACK NOW AND LOOK AT 7635 06:04:34,485 --> 06:04:36,187 EVERYTHING I'VE BEEN THROUGH AND 7636 06:04:36,254 --> 06:04:38,623 REALIZE I'VE COME THIS FAR JUST 7637 06:04:38,690 --> 06:04:40,191 BELIEVING AND PRAYING AND HAVING 7638 06:04:40,258 --> 06:04:45,029 MY SUPPORT SYSTEMS AROUND ME AND 7639 06:04:45,096 --> 06:04:46,130 HERE I AM NOW SICKLE CELL FREE 7640 06:04:46,197 --> 06:04:49,100 WHICH IS PRETTY AMAZING. 7641 06:04:49,167 --> 06:04:55,573 I THOUGHT I'D NEVER SEE THE DAY. 7642 06:04:55,640 --> 06:04:57,508 I'M HERE NOW SICKLE CELL FREE 7643 06:04:57,575 --> 06:05:00,378 AND IT FEELS AMAZING. 7644 06:05:00,445 --> 06:05:03,348 THERE'S BEEN TIMES I THINK I'D 7645 06:05:03,414 --> 06:05:05,883 GET THROUGH IT BUT I DID. 7646 06:05:05,950 --> 06:05:08,186 I JUST WANT YOU GUYS TO KNOW 7647 06:05:08,253 --> 06:05:08,720 THAT TOO. 7648 06:05:08,786 --> 06:05:11,656 THANK YOU FOR GIVING ME THE TIME 7649 06:05:11,723 --> 06:05:21,899 TO SPEAK. 7650 06:05:33,211 --> 06:05:34,312 >> THANK YOU, DR. LEONARD. 7651 06:05:34,379 --> 06:05:35,913 WE HAVE TIME FOR A FEW 7652 06:05:35,980 --> 06:05:36,314 QUESTIONS. 7653 06:05:36,381 --> 06:05:37,749 IF I CAN ASK ALL THE SPEAKERS TO 7654 06:05:37,815 --> 06:05:48,192 COME UP ON THE STAGE. 7655 06:05:59,270 --> 06:06:01,339 WHILE PEOPLE ARE THINKING I HAVE 7656 06:06:01,406 --> 06:06:03,941 ONE QUESTION FOR DR. IKELER THAT 7657 06:06:04,008 --> 06:06:06,044 FOLLOWS ON THE COMMENTS MADE 7658 06:06:06,110 --> 06:06:07,478 ABOUT SICKLE CELL. 7659 06:06:07,545 --> 06:06:12,116 YOU TALKED ABOUT THE MYELOID 7660 06:06:12,183 --> 06:06:14,719 DYSPLASTIC SYNDROME IS THAT 7661 06:06:14,786 --> 06:06:16,854 RESULT OF THE CHEMOTHERAPY 7662 06:06:16,921 --> 06:06:19,490 NECESSARY OR THE TRANS PLANT 7663 06:06:19,557 --> 06:06:22,226 ITS 7664 06:06:22,293 --> 06:06:24,762 ITSELF OR NOT KNOWN YET? 7665 06:06:24,829 --> 06:06:27,665 >> WE DO NOT KNOW THERE'S TOO 7666 06:06:27,732 --> 06:06:30,401 MANY FACTORS AN IN EVERY FOR 7667 06:06:30,468 --> 06:06:32,403 LYING DISEASE STATE THERE'S THE 7668 06:06:32,470 --> 06:06:33,137 DIFFERENCES IN WHAT'S 7669 06:06:33,204 --> 06:06:33,538 CONTRIBUTING HERE. 7670 06:06:33,604 --> 06:06:35,406 >> THANK YOU. 7671 06:06:35,473 --> 06:06:45,850 >> QUESTION OVER HERE. 7672 06:06:46,751 --> 06:06:57,228 >> WAS IT DR. MARINKOVICH AND I 7673 06:07:05,403 --> 06:07:07,505 DON'T KNOW IF YOU HEAR THE 7674 06:07:07,572 --> 06:07:09,907 WHEEZING WHEN HE'S SPEAKING. 7675 06:07:09,974 --> 06:07:13,878 IF SO, HAVE YOU CONSIDERED USING 7676 06:07:13,945 --> 06:07:21,719 GENE THERAPY FOR THIS EFFECT OF 7677 06:07:21,786 --> 06:07:25,256 COLLAGEN 7 LACKING IN THE LUNG. 7678 06:07:25,323 --> 06:07:30,695 E.B. ONLY AFFECT THE STRATIFIED 7679 06:07:30,762 --> 06:07:35,500 EPITHELIUM THE ORAL PHARYNX AND 7680 06:07:35,566 --> 06:07:38,469 THE ESOPHAGUS BUT THE 7681 06:07:38,536 --> 06:07:38,870 INTERSTITIAL LUNG. 7682 06:07:38,936 --> 06:07:43,040 I THINK HE JUST HAD A SENSITIVE 7683 06:07:43,107 --> 06:07:47,879 MICROPHONE BUT YOU BRING UP A 7684 06:07:47,945 --> 06:07:48,212 GOOD POINT. 7685 06:07:48,279 --> 06:07:53,284 AND WHO I PARTNERED WITH HAVE 7686 06:07:53,351 --> 06:07:55,486 ANOTHER PIPELINE FOR CYSTIC 7687 06:07:55,553 --> 06:07:57,722 FIBROSIS AND DELIVERING THE SAME 7688 06:07:57,789 --> 06:08:00,591 VECTOR WITH THE CYSTIC FIBROSIS 7689 06:08:00,658 --> 06:08:02,260 GENE WITH INHALATION THERAPY NOR 7690 06:08:02,326 --> 06:08:07,265 LUNGS SO IT'S NOW BEING USED IN 7691 06:08:07,331 --> 06:08:08,866 EARLY CLINICAL TRIALS AS AN 7692 06:08:08,933 --> 06:08:11,502 INHALENT THERAPY. 7693 06:08:11,569 --> 06:08:21,145 >> THANK YOU. 7694 06:08:21,212 --> 06:08:29,854 >> I'M WITH PPB AND JUST 7695 06:08:29,921 --> 06:08:31,489 WONDERING IF YOU HAVE ADVICE ON 7696 06:08:31,556 --> 06:08:34,392 PLACEBO CONTROL OR IF THAT'S 7697 06:08:34,459 --> 06:08:35,660 PART OF THE INITIATIVES ONGOING 7698 06:08:35,726 --> 06:08:36,127 RIGHT NOW. 7699 06:08:36,194 --> 06:08:37,628 >> IT'S A GREAT QUESTION. 7700 06:08:37,695 --> 06:08:39,931 THANK YOU FOR THAT QUESTION. 7701 06:08:39,997 --> 06:08:42,533 THE QUESTION WAS AROUND ADVICE 7702 06:08:42,600 --> 06:08:45,603 ABOUT PLACEBO CONTROL TRIALS. 7703 06:08:45,670 --> 06:08:47,505 I THINK WE NEED TO SHIFT THAT 7704 06:08:47,572 --> 06:08:49,640 PARADIGM SOME. 7705 06:08:49,707 --> 06:08:50,875 I DON'T THINK IT'S ALWAYS 7706 06:08:50,942 --> 06:08:51,309 NECESSARY. 7707 06:08:51,375 --> 06:08:55,480 AND SO I WOULD SAY THAT THAT'S A 7708 06:08:55,546 --> 06:08:58,883 BIT OF INDIVIDUAL CONVERSATION 7709 06:08:58,950 --> 06:09:00,384 BIFFED ON THE DISEASE AND THE 7710 06:09:00,451 --> 06:09:04,555 PROGRAM BUT WE HAVE BEEN LOOKING 7711 06:09:04,622 --> 06:09:07,959 AT WHERE IT'S APPROPRIATE SAGE 7712 06:09:08,025 --> 06:09:11,796 ARM TRIALS AND NOVEL END POINTS, 7713 06:09:11,863 --> 06:09:13,097 INTERMEDIATE END POINTS AND 7714 06:09:13,164 --> 06:09:15,500 FOLLOWING THOSE PATIENTS LONGER 7715 06:09:15,566 --> 06:09:18,069 TERM AFTER AN ACCELERATED 7716 06:09:18,135 --> 06:09:18,503 APPROVAL. 7717 06:09:18,569 --> 06:09:20,371 WE'RE LOOKING AT DIFFERENT WAYS 7718 06:09:20,438 --> 06:09:23,508 TO DESIGN PROGRAMS NOT 7719 06:09:23,574 --> 06:09:27,245 NECESSARILY INVOLVING PLACEBO. 7720 06:09:27,311 --> 06:09:28,913 >> THANK YOU. 7721 06:09:28,980 --> 06:09:31,415 >> LOOKS LIKE THERE'S NO MORE 7722 06:09:31,482 --> 06:09:31,682 QUESTIONS. 7723 06:09:31,749 --> 06:09:33,818 I'M GOING TO FIRST THANK THE 7724 06:09:33,885 --> 06:09:35,386 SPEAKER FOR THEIR WONDERFUL 7725 06:09:35,453 --> 06:09:37,622 PRESENTATIONS AND INSPIRING 7726 06:09:37,688 --> 06:09:42,360 RESEARCH WE HEARD ABOUT. 7727 06:09:42,426 --> 06:09:47,198 NOW I'D LIKE TO INVITE DR. JONI 7728 06:09:47,265 --> 06:09:57,742 RUTTER FOR CLOSING REMARKS. 7729 06:10:02,380 --> 06:10:05,683 >> LOOK, IT'S THE END OF THE 7730 06:10:05,750 --> 06:10:06,284 DAY. 7731 06:10:06,350 --> 06:10:09,820 IT WAS AN INCREDIBLY EMPOWERING, 7732 06:10:09,887 --> 06:10:11,188 ENGINEER, THOUGHT-PROVOKING DAY. 7733 06:10:11,255 --> 06:10:12,957 I DON'T KNOW I CAN SAY ANYTHING 7734 06:10:13,024 --> 06:10:16,327 MORE SO I'M NOT GOING TO. 7735 06:10:16,394 --> 06:10:19,330 WHAT I WANT TO DO IS I'VE NOW 7736 06:10:19,397 --> 06:10:21,432 BEEN IMPRINTED FROM WHAT 7737 06:10:21,499 --> 06:10:24,435 HAPPENED LAST YEAR AT THIS TIME 7738 06:10:24,502 --> 06:10:26,604 AND IF ANY OF YOU WERE HERE LAST 7739 06:10:26,671 --> 06:10:31,008 YEAR, RON BARTEK CAME RUNNING 7740 06:10:31,075 --> 06:10:33,277 DOWN THE AISLE WAVING HIS HANDS 7741 06:10:33,344 --> 06:10:35,479 AND HAD THIS WONDERFUL 7742 06:10:35,546 --> 06:10:37,281 ANNOUNCEMENT FOR A NEW TREATMENT 7743 06:10:37,348 --> 06:10:39,517 FOR THE DISEASE HE'S BEEN 7744 06:10:39,584 --> 06:10:42,219 WORKING ON AND SO PASSIONATE 7745 06:10:42,286 --> 06:10:44,655 ABOUT FOR MANY YEARS. 7746 06:10:44,722 --> 06:10:46,257 I'M GOING TO PAUSE A MOMENT IN 7747 06:10:46,324 --> 06:10:47,658 CASE ANYBODY'S GOING TO RUN DOWN 7748 06:10:47,725 --> 06:10:49,627 THE AISLE. 7749 06:10:49,694 --> 06:10:54,899 I DON'T WANT TO MISS THAT. 7750 06:10:54,966 --> 06:10:57,034 I WANT TO TAKE A MOMENT TO SAY 7751 06:10:57,101 --> 06:10:58,869 THANK YOU TO ALL THE SPEAKERS TO 7752 06:10:58,936 --> 06:11:09,480 ALL OF OUR POSTER PRESENTERS AND 7753 06:11:10,748 --> 06:11:13,618 THERE'S MEETINGS AND BECAUSE 7754 06:11:13,684 --> 06:11:15,386 BUSINESS TAKING PLACE AND 7755 06:11:15,453 --> 06:11:16,387 CONVERSATIONS HAPPENING WHICH IS 7756 06:11:16,454 --> 06:11:18,155 FANTASTIC TO SEE AND I WANT TO 7757 06:11:18,222 --> 06:11:20,758 THANK THE ARTISTS WHO SHARED 7758 06:11:20,825 --> 06:11:21,726 WITH US TODAY AS WELL. 7759 06:11:21,792 --> 06:11:25,229 IF YOU HAVEN'T HAD A CHANCE TO 7760 06:11:25,296 --> 06:11:27,932 SEE THAT TAKE A LOOK AT THAT AND 7761 06:11:27,999 --> 06:11:30,001 WE'RE ON THE STREAMING EVENT AS 7762 06:11:30,067 --> 06:11:30,568 WELL. 7763 06:11:30,635 --> 06:11:33,838 AND THEN LASTLY I WOULD JUST 7764 06:11:33,904 --> 06:11:35,506 LIKE TO SAY THANK YOU TO THE 7765 06:11:35,573 --> 06:11:38,409 YOUNG ADULT ADVOCATES COUNCIL 7766 06:11:38,476 --> 06:11:40,444 WHO PRESENTED US WITH A NOTE OF 7767 06:11:40,511 --> 06:11:41,712 THANKS FOR THE WORK WE'RE DOING. 7768 06:11:41,779 --> 06:11:44,015 I WANT TO THANK YOU FOR ALL THE 7769 06:11:44,081 --> 06:11:46,417 WORK YOU'RE DOING. 7770 06:11:46,484 --> 06:11:48,119 WE'RE MAKING A TON OF PROGRESS. 7771 06:11:48,185 --> 06:11:49,954 THERE'S MORE NEED AND MORE TO 7772 06:11:50,021 --> 06:11:50,321 COME. 7773 06:11:50,388 --> 06:11:52,490 KEEP UP THE FANTASTIC WORK AND 7774 06:11:52,556 --> 06:11:53,190 WE'LL SEE YOU NEXT YEAR. 7775 06:11:53,257 THANK YOU.