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I WANT TO THANK EVERYBODY

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PRESENT, IN PERSON AND ALSO ON

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THE VIDEOCAST FOR ATTENDING THIS

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AFTERNOON'S NIH WEDNESDAY

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AFTERNOON LECTURE SERIES.

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MY NAME IS CHARLES ROTIMI

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I'M THE SCIENTIFIC DIRECTOR FOR

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THE GENOME INSTITUTE NHGRI AND

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QUITE YOUNG IN THAT POSITION, I

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THINK LESS THAN--DEFINITELY LESS

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THAN A YEAR SO I'M STILL

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LEARNING MY ROPES.

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I ALSO WANT TO ACKNOWLEDGE

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MEMBERS OF THE NIH GENOMICS AND

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HEALTH DISPARITY INTEREST GROUP

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CO CHAIRED BY DR. PAULEY JOSEPH

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AND [INDISCERNIBLE] AND VINCE

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[INDISCERNIBLE].

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WHO HAVE BEEN NOMINATED THE WORK

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FOR THIS YEAR'S AWARDS, LECTURE

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SERIES.

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SO NOW FOR THE WONDERFUL

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INTRODUCTION OF OUR ESTEEMED

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SPEAKER, DR. AMBROISE WONKAM IS

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THE PROFESSOR OF GENETIC

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MEDICINE AND DIRECTOR OF THE

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JOHNS HOPKINS SCHOOL OF

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MEDICINE.

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AFTER MEDICAL TRAINING FROM THE

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FACULTY OF MEDICINE AND

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BIOMEDICAL SCIENCES, UNIVERSITY

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OF YAOUNDE IN CAMEROON, HE

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COMPLETED A THESES IN MEDICAL

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SCIENSCIENCES UNIVERSITY OF GEAN

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EVALUATION PROCESS EVALUATION--A

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IN SWITZERLAND WHERE HE WAS

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BEFORE HE ACCEPTED A POSITION IN

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HOPKINS UNIVERSITY.

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DR. WONKAM PRACTICES GENETICS IN

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BOTH EUROPEAN AND AFRICAN

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CONTEXT AND HIS RESEARCH IS

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REFLECTED IN MORE THAN 180 PEER

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REVIEW PUBLICATIONS WHICH ARE

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MOLECULAR, CLINICAL, EDUCATIONAL

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AND ECOLOGICAL ASPECTS OF

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MEDICAL AND HUMAN GENETICS,

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VERY, VERY BROAD INTEREST GROUP.

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FOR THE PAST 5 YEARS DR. WONKAM

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WORK HAS BEEN SUPPORTED BY THE

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NATIONAL INSTITUTE OF NHGRI AND

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ALSO THE INSTITUTES OF MENTAL

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HEALTH AND OF COURSE IN THE UK

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[INDISCERNIBLE] TO STUDY SICKLE

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CELL DISEASE AND [INDISCERNIBLE]

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IMPAIRMENT HE ALSO HAS ACTIVE

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GRANTS IN COORDINATING A

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CONSORTIA AND DATA CENTER AND TO

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INVESTIGATE PROJECT

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UNDERSTANDING OF BIG DATA.

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HE HAS RECEIVED MANY HONORS AND

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AWARDS MOSTLY THE 2021 AWARD

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FROM THE UNIVERSITY OF CAPE TOWN

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RESEARCHER WHO'S WORK HAS

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CONTRIBUTED TO THE ADVANCEMENT

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OF SOUTH AFRICAN DISADVANTAGED

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PEOPLE.

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DR. WONKAM IS ALSO WITH THE

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AMERICAN JOURNAL OF HUMAN

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GENETICS AMERICAN JOURNAL OF

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GENETICS THE JOURNAL OF

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COMMUNITY GENETICS AND ACADEMIC

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EDITOR OF PLUS 1.

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A MEMBER OF THE BOARD OF

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GENETICS AND ALSO PRESIDENT OF

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THE AFRICAN SOCIETY OF AFRICAN

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GENETICS AND THE [INDISCERNIBLE]

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AFRICA CONSORTIUM AND BOARD

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MEMBER FOR THE INTERNATIONAL

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FEDERATION FOR HUMAN GENETICS

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AND THE COLLABORATOR OF THE

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GLOBAL GENETIC COMMITTEE, AND

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FOR THOSE WHO HAVE KNOWN

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AMBROISE, AND IN THE EARLY DAYS

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OF OUR ESTABLISHMENT OF THE

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HUMAN BEGINETS, HE

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[INDISCERNIBLE] FOR 10 YEARS AND

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WHEN I FIRST MET HIM, I KNEW HE

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WAS GOING TO BE GREAT IN LIFE,

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HE HASN'T DISAPPOINTED ME OR

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HIMSELF.

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AND SO, AMBROISE, STILL VERY

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PROUD OF YOU AND WELCOME.

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[ APPLAUSE ]

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D.

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>> THANK YOU CHARLES AND
I'M

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VERY GRATEFUL FOR YOUR

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INTRODUCTION.

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YOU'RE PROBABLY 1 OF THE REASONS

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00:04:11,400 --> 00:04:14,080
I'M STANDING HERE TODAY TO SPEAK

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00:04:14,080 --> 00:04:17,440
TO MANY OF YOU BECAUSE I BELIEVE

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00:04:17,440 --> 00:04:21,080
1 OF YOUR BRAIN CHILD WHICH IS

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THE [INDISCERNIBLE] AFRICAN

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00:04:25,000 --> 00:04:26,360
CONSORTIUM HAVE GREATLY ADVANCED

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00:04:26,360 --> 00:04:27,000
MY CAREER.

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FOR THOSE THAT ARE IN THE, I AM

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GREAT FOR FOR THOSE IN THE ROOM

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TO LISTEN TO MY TALK, FOR THOSE

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00:04:33,400 --> 00:04:35,480
ONLINE, I ACKNOWLEDGE YOU IN THE

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FAR AREAS OF THE WORLD THAT HAVE

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00:04:37,920 --> 00:04:40,320
SENT CONGRATULATIONS FOR THIS

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TALK, AND I WON AN AWARD, I HOPE

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TO BE THE VOICE OF ALL THOSE

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PEOPLE THAT SELDOM HAVE A VOICE.

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AND TODAY I WILL TRY TO SPEAK TO

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MY PERSONAL JOURNEY, CAREER AND

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TO CONVINCE YOU TO AFRICAN

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00:04:55,360 --> 00:04:57,000
GENOMIC VARIATION IS THE NEXT

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FRONTIER OF GLOBAL GENETIC

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MEDICINE.

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I WOULDN'T SPEND A LOT OF TIME

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ON MY TRAINING, MYSELF AS A

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GLOBAL CITIZEN HAVING BEEN ABLE

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TO WORK IN 3 DIFFERENT CONTINENT

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IN THE SOUTHERN HEMISPHERE.

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WHEN SOMEONE SAYS WHERE ARE YOU

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FROM, I SAY I AM FROM EARTH.

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WHEN I TRY TO SET GENETIC

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PRACTICE, I USE DIAMETRIC AS A

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POINT OF ENTER FOR GENOMIC

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MEDICINE AND THE CHILD HERE WAS

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THE FIRST CHILD BORN AFTER

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GENOMIC TESTING FOR BIRTH FOR

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SICKLE CELL DISEASE.

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AND WHEN WE START THAD CLINIC WE

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STARTED EXPANDING BY PRACTICING

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A NORMAL DISMORPHOLOGY,

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SPECIFICITY IS THAT WE YOU WILL

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HAVE MORE CHILDREN, AFRICAN

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ANCESTRY, BASICALLY A FEATURE

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THAT WILL HAVE LITERATURE TO

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CAPTURE THE MORPHOLOGY IN MOST

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POPULATION IN THE WORLD.

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SOME OF THOSE SPECIFICITY

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IMPROVE OUR UNDERSTANDING AND

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KRE TINS SCRIPGZ OF CONDITION,

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FOR EXAMPLE, I'M COMPARING HERE

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WITH THE SYNDROME FROM AFRICA

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WHO LIKE LIKE ANY OTHER NORMAL

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KID IN THE STREET BUT IN A CHILD

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OF EUROPEAN PARENTS THEY WILL

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SAY AND WHAT THEY HAVE LEARNED

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THAT THE CHILD [INDISCERNIBLE]

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EVERYBODY HAS IN AFRICA.

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WE ALSO EXTENDED OUR PRACTICE TO

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SINGLE GENE DISORDER AND

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ESPECIALLY THOSE THAT AFFECT

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MENTAL RETARDATION AND THIS

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[INDISCERNIBLE] SYNDROME IN

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CAMMA ROON AND 1 OF OUR

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DEPARTMENTS WAS TO ESTABLISH IN

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THAT SPECIFIC SETTING A

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MULTIGENETIC [INDISCERNIBLE] OF

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THE SEX DEVELOPMENT.

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SO WHEN WE START THE CLINIC WE

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QUICKLY REALIZED WE NEEDED

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MOLECULAR DIAGNOSTIC GENETICS

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ABOUT YOU ALSO FOR A SURGICAL

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INTERVENTION FOR WHAT'S NEEDED

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AND WE CALL FRIENDS FROM

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SWITZERLAND AND FROM FRANCE AND

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TO SET THE CLINIC.

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THE CLINIC ALLOWED OVER THE

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FIRST FEW YEARS TO HAVE A CLEAR

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DESCRIPTION OF THE SORT OF SEX

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DEVELOPMENT IN THE COUNTRY TO

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HAVE A MOLECULAR MAP FOR

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CONGENITAL HYPER PLASSIA IN ALL

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THE REGION OF THE COUNTRY TO

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PROVIDE A TREATMENT FOR SOME

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CHILDREN THAT WITHOUT GENETICS

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AND A COMBINATION OF

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MULTIPETRESSABLE SPECIALTY

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ACROSS NUMEROUS COUNTRY THAT

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THEY WOULDN'T HAVE HAD OTHERWISE

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BEFORE AND ALSO FOR SOME

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CONDITION, VERY COMPLEX

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CONDITION LIKE IN THIS BOY 14

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YEARS OLD AT THE TIME WE SAW HIM

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HE HAD A DEVELOPMENT, 1 OVARY ON

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1 SIDE, A TESTES,OT OTHER SIDE

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HE WOULD SELF-IDENTIFY AS A BOY,

192
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SOCIALLY, LEGALLY AND OWCIAL

193
00:08:00,080 --> 00:08:02,440
PSYCHOLOGICAL BUT HE A

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[INDISCERNIBLE] COMPOSITION OVER

195
00:08:03,920 --> 00:08:05,120
TIME SO AFTER ALL THE

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APPROPRIATE COUNSELING WE WERE

197
00:08:06,840 --> 00:08:08,360
ABLE TO PROVIDE HIM WITH A

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00:08:08,360 --> 00:08:09,720
MASTECTOMY, HE HAD A STRONG

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00:08:09,720 --> 00:08:10,960
BREAST DEVELOPMENT AT THE TIME

200
00:08:10,960 --> 00:08:14,040
BUT ON 1 SIDE AND PROVIDE

201
00:08:14,040 --> 00:08:14,920
NECESSARY [INDISCERNIBLE] FOR

202
00:08:14,920 --> 00:08:15,560
HIS GROWTH.

203
00:08:15,560 --> 00:08:19,160
THIS EXPERIENCE ALLOW US TO SET

204
00:08:19,160 --> 00:08:20,640
AN OPINION PIECE AT TIME WHEN

205
00:08:20,640 --> 00:08:22,360
THE NATIONAL FEDERATION WAS

206
00:08:22,360 --> 00:08:24,600
USING GENETIC FOR GENDER TESTING

207
00:08:24,600 --> 00:08:29,240
TO ADVOCATE AGAINST THE USE OF

208
00:08:29,240 --> 00:08:31,400
IT AND PERHAPS 1 OF THE MOST

209
00:08:31,400 --> 00:08:32,760
INFLUENTIAL PIECE OF WORK WE

210
00:08:32,760 --> 00:08:33,960
PUBLISH, ACCORDING TO THE

211
00:08:33,960 --> 00:08:35,840
AMERICAN ASSOCIATION OF GENETIC

212
00:08:35,840 --> 00:08:37,040
COUNCILORS, THEY THOUGHT THIS

213
00:08:37,040 --> 00:08:39,920
PIECE OF WORK ADVISED THE

214
00:08:39,920 --> 00:08:40,960
INTERNATIONAL FEDERATION AGAINST

215
00:08:40,960 --> 00:08:45,920
THE USE OF GENDER TESTING FOR

216
00:08:45,920 --> 00:08:46,120
SPORT.

217
00:08:46,120 --> 00:08:47,600
THAT PROGRAM AND THE FEW EXAMPLE

218
00:08:47,600 --> 00:08:51,200
I SHOW ALSO SUPPORT THE FACT

219
00:08:51,200 --> 00:08:52,280
THAT RARE DISEASE THAT ARE

220
00:08:52,280 --> 00:08:56,560
HIDDEN IN FAMILY IS NOT JUST

221
00:08:56,560 --> 00:08:57,400
CONSIDERATION FOR

222
00:08:57,400 --> 00:08:59,040
[INDISCERNIBLE], YOU CAN SEE IT

223
00:08:59,040 --> 00:08:59,480
EVERYWHERE.

224
00:08:59,480 --> 00:09:01,800
HERE IS 1 OF MY COUSIN IN

225
00:09:01,800 --> 00:09:02,440
ANOTHER TIME.

226
00:09:02,440 --> 00:09:06,920
HIS NAME IS NEDRA, HE LIVED

227
00:09:06,920 --> 00:09:10,960
ABOUT 4000 YEARS AGO AND SENEB

228
00:09:10,960 --> 00:09:13,720
WAS A PRIEST IN THE COURT OF A

229
00:09:13,720 --> 00:09:15,240
FARROW, SENEB WAS ALSO

230
00:09:15,240 --> 00:09:16,920
RESPONSIBILITY FOR THE

231
00:09:16,920 --> 00:09:18,800
[INDISCERNIBLE] AT THE TIME.

232
00:09:18,800 --> 00:09:20,400
SENEB HAD A VERY BEAUTIFUL WIFE

233
00:09:20,400 --> 00:09:21,560
AS CAN YOU SEE HERE AND THE WIFE

234
00:09:21,560 --> 00:09:25,200
HAD A NORMAL SIZE AND THEY HAD 2

235
00:09:25,200 --> 00:09:26,920
CHILDREN, THIS SLIDE SHOWS THAT

236
00:09:26,920 --> 00:09:29,480
MAYBE 4000 YEARS AGO, 5000 YEARS

237
00:09:29,480 --> 00:09:33,040
AGO, FIRST OF ALL, RARE DISEASE

238
00:09:33,040 --> 00:09:35,680
WAS STILL THERE AND SECONDLY OUR

239
00:09:35,680 --> 00:09:36,800
TOLERANCE FOR DIFFERENCE WAS

240
00:09:36,800 --> 00:09:38,080
PROBABLY MUCH BETTER THAN TODAY.

241
00:09:38,080 --> 00:09:42,880
WE MOVE FROM CAMAROON TO SOUTH

242
00:09:42,880 --> 00:09:44,240
AFROMMICCA BEN 10 YEARS AGO AND

243
00:09:44,240 --> 00:09:46,640
IN SOUTH AFRICA WE WERE IN A

244
00:09:46,640 --> 00:09:48,200
COUNTRY WHERE THERE WAS ALREADY

245
00:09:48,200 --> 00:09:49,760
ESTABLISHED MEDICAL GENETIC

246
00:09:49,760 --> 00:09:53,080
PRACTICE, IT WAS A EXTREMELY

247
00:09:53,080 --> 00:09:53,800
PATHOLOGIC HISTORY AND AT THE

248
00:09:53,800 --> 00:09:57,000
CENTER OF OUR THIS NOW, WHAT WAS

249
00:09:57,000 --> 00:09:59,000
INITIALLY CALLED THE JAIM

250
00:09:59,000 --> 00:10:01,120
ESTIMATE THADON CALL, WE CHANGED

251
00:10:01,120 --> 00:10:03,600
IT TO THE NAME OF THE LADY THAT

252
00:10:03,600 --> 00:10:04,760
IS HERE ON THE SCREEN, THAT LADY

253
00:10:04,760 --> 00:10:07,360
WAS FROM THE [INDISCERNIBLE]

254
00:10:07,360 --> 00:10:09,440
ANCESTRY, SHE MOVE FRIDAY SOUTH

255
00:10:09,440 --> 00:10:10,840
AFRICA SOME HUNDRED YEARS AGO TO

256
00:10:10,840 --> 00:10:14,320
EUROPE, EXPOSED IN MUSEUM TO BE

257
00:10:14,320 --> 00:10:16,560
SEEN AND [INDISCERNIBLE] ANIMAL,

258
00:10:16,560 --> 00:10:19,840
HE EVENTUALLY DIED IN FRANCE, HE

259
00:10:19,840 --> 00:10:20,760
NAME UNDER [INDISCERNIBLE] WAS

260
00:10:20,760 --> 00:10:23,440
TO BRING BACK TO SOUTH AFRICA

261
00:10:23,440 --> 00:10:24,680
ONLY RECENTLY.

262
00:10:24,680 --> 00:10:27,600
THIS INTRODUCTION IS NOT RANDOM.

263
00:10:27,600 --> 00:10:28,560
THIS INTRODUCTION WAS TO SHOW

264
00:10:28,560 --> 00:10:31,200
THAT IN THAT COUNTRY WITH SUCH

265
00:10:31,200 --> 00:10:32,200
PATHOLOGIC HISTORY WHERE

266
00:10:32,200 --> 00:10:34,160
NUMEROUS GROUP WAS SECRETED, IT

267
00:10:34,160 --> 00:10:35,880
WILL ALSO SHOW THE VERY

268
00:10:35,880 --> 00:10:38,440
DIFFERENT PROFILE OF GENETIC

269
00:10:38,440 --> 00:10:38,840
CONDITION.

270
00:10:38,840 --> 00:10:40,840
I HAVE WORK AT UNIVERSITY OF

271
00:10:40,840 --> 00:10:47,960
CAPE TOWN WHERE PROFESSOR PETER

272
00:10:47,960 --> 00:10:50,280
BEIGHTON, SHOWED THIS, THE SOUTH

273
00:10:50,280 --> 00:10:52,320
AFRICA IS THE PROFOUND EFFECT OF

274
00:10:52,320 --> 00:10:53,800
THE OPPRESSION OF THE

275
00:10:53,800 --> 00:10:55,120
POPULATION, ALSO THE WAY THE

276
00:10:55,120 --> 00:10:56,120
POPULATION WAS ESTABLISHED IN

277
00:10:56,120 --> 00:10:58,240
SOUTH AFRICA.

278
00:10:58,240 --> 00:11:02,640
SO WE WERE INVESTIGATING GENETIC

279
00:11:02,640 --> 00:11:04,800
CONDITIONS ACCORDING TO ETHNIC

280
00:11:04,800 --> 00:11:05,520
BACKGROUND OF PEOPLE.

281
00:11:05,520 --> 00:11:08,600
FOR EXAMPLE, IN EUROPEAN WITH

282
00:11:08,600 --> 00:11:12,640
AFRICAN ANCESTRY,

283
00:11:12,640 --> 00:11:14,000
[INDISCERNIBLE] IS THE MOST

284
00:11:14,000 --> 00:11:15,600
COMMON CONDITION AND YOU ALSO

285
00:11:15,600 --> 00:11:16,480
SEE THE DIFFERENCE OF THE

286
00:11:16,480 --> 00:11:17,880
FREQUENCY OF MUTATION ACCORDING

287
00:11:17,880 --> 00:11:21,160
TO THE BACKGROUND IN THIS

288
00:11:21,160 --> 00:11:21,560
PICTURE.

289
00:11:21,560 --> 00:11:26,720
BECAUSE POPULATION WAS

290
00:11:26,720 --> 00:11:27,680
[INDISCERNIBLE] VERY WELL, THEY

291
00:11:27,680 --> 00:11:31,680
SEE A HIGH LEVEL OF THIS

292
00:11:31,680 --> 00:11:35,160
DISORDER OF SOUTH AFFRIC AWE

293
00:11:35,160 --> 00:11:36,720
DESCRIBED THE SYNDROME, WE DRIEB

294
00:11:36,720 --> 00:11:39,320
THE 1 FOR USHER SEN ILLEGALSEN

295
00:11:39,320 --> 00:11:41,520
DROAM AS BASICALLY IN THE

296
00:11:41,520 --> 00:11:44,920
POPULATION OF SOUTH AFRICA WITH

297
00:11:44,920 --> 00:11:47,360
BLACK ANCESTRY, DURING

298
00:11:47,360 --> 00:11:48,840
APARTHEID, A WORKER WAS BEING

299
00:11:48,840 --> 00:11:52,680
PAID AT THE TIME BY

300
00:11:52,680 --> 00:11:55,720
[INDISCERNIBLE] THE WINES AND

301
00:11:55,720 --> 00:11:59,520
MAKE ALCOHOL SYNDROME THE

302
00:11:59,520 --> 00:12:00,240
HIGHEST CONDITION OF

303
00:12:00,240 --> 00:12:02,240
ENVIRONMENTAL ETIOLOGY IN OUR

304
00:12:02,240 --> 00:12:02,520
PRACTICE.

305
00:12:02,520 --> 00:12:07,760
SEVEN OUT OF 1000, THE HIGHEST

306
00:12:07,760 --> 00:12:15,720
IN THE--PRACTICE WILL BE

307
00:12:15,720 --> 00:12:16,200
RELATIVELY DIFFERENT.

308
00:12:16,200 --> 00:12:17,400
WE INVESTIGATED SICKLE CELL

309
00:12:17,400 --> 00:12:20,600
DISEASE IN SOUTH AFRICAN BLACK

310
00:12:20,600 --> 00:12:22,320
POPULATION, ACTUALLY THERE IS NO

311
00:12:22,320 --> 00:12:24,520
SICKLE CELL DISEASE IN THE SOUTH

312
00:12:24,520 --> 00:12:25,560
AFRICAN BLACK POPULATION.

313
00:12:25,560 --> 00:12:27,600
WE DID TRY TO LOOK AT HAPLOTYPE

314
00:12:27,600 --> 00:12:30,280
AND ORDER THE GENE FOUND IN

315
00:12:30,280 --> 00:12:32,920
AFRICAN GENE INCLUDING

316
00:12:32,920 --> 00:12:35,240
[INDISCERNIBLE], THERE'S CLEARLY

317
00:12:35,240 --> 00:12:36,960
A BURDEN WHEN YOU MOVE FROM

318
00:12:36,960 --> 00:12:39,560
SOUTH AFRICA TO CENTRAL AFRICA,

319
00:12:39,560 --> 00:12:40,600
WE ALWAYS REALIZED THAT THE

320
00:12:40,600 --> 00:12:41,960
SOUTH AFRICA BLACK POPULATION

321
00:12:41,960 --> 00:12:43,360
HAD SICKLE CELL DEC IN THE PAST

322
00:12:43,360 --> 00:12:46,080
BECAUSE WE WOULD SEE SOME

323
00:12:46,080 --> 00:12:51,480
EMPHASIS OF THE HAPLOTYPE CELL

324
00:12:51,480 --> 00:12:51,960
MIGRATION.

325
00:12:51,960 --> 00:12:54,600
BUT HAD WE MOVED TO SOUTH

326
00:12:54,600 --> 00:12:55,600
AFRRKSA A THOUSAND YEARS AGO

327
00:12:55,600 --> 00:12:57,000
WHERE THERE'S NO MORE MUTATION

328
00:12:57,000 --> 00:12:58,960
AND THIS IS NOT SOUTH AFRICAN

329
00:12:58,960 --> 00:13:01,520
THIS, IS VERY MUCH MY SON, HE

330
00:13:01,520 --> 00:13:03,880
WAS 20 YEARS YOUNGER IN OUR

331
00:13:03,880 --> 00:13:04,280
GENEVA APARTMENT.

332
00:13:04,280 --> 00:13:07,280
WHAT YOU SEE IN THE BOTTOM LEFT

333
00:13:07,280 --> 00:13:09,080
IS THE UMBILICAL CORD THAT LINK

334
00:13:09,080 --> 00:13:12,000
MY SON TO HIS MOM WHEN HE WAS

335
00:13:12,000 --> 00:13:15,360
BORN AND WE KEPT THAT UMBILICAL

336
00:13:15,360 --> 00:13:18,400
CORD IS BURY IT IN 1 SPECIFIC

337
00:13:18,400 --> 00:13:22,560
PLACE IN WESTERN CAMEROON, MY

338
00:13:22,560 --> 00:13:24,240
PARENT WERE BORN AND WHEN I

339
00:13:24,240 --> 00:13:26,840
VISITED THE HOUSE OF NELSON

340
00:13:26,840 --> 00:13:29,480
MANDELA AND [INDISCERNIBLE]

341
00:13:29,480 --> 00:13:30,680
MANDELA, BEHIND THE HOUSE THERE

342
00:13:30,680 --> 00:13:33,160
IS A TREE, BELOW THE TREE THERE

343
00:13:33,160 --> 00:13:35,560
IS A VOICE OF NELSON MANDELA

344
00:13:35,560 --> 00:13:37,480
SAYING THAT UNDER THE TREE THEY

345
00:13:37,480 --> 00:13:39,720
BURY THE PLACENTA OF THEIR

346
00:13:39,720 --> 00:13:40,920
CHILDREN, THE EXACT SAME

347
00:13:40,920 --> 00:13:44,720
PRACTICE THAT WE DO OUT THERE. 

348
00:13:44,720 --> 00:13:45,520
WHAT DOES THAT MEAN?

349
00:13:45,520 --> 00:13:51,120
THAT MEANS THAT [INDISCERNIBLE]E

350
00:13:51,120 --> 00:13:52,760
SAME WAY OF SPEAKING THE SAME

351
00:13:52,760 --> 00:13:56,000
SCULTCULTURE BUT THEY DO NOT HAE

352
00:13:56,000 --> 00:13:57,320
SAME GENETICS AND THIS IS

353
00:13:57,320 --> 00:13:58,240
CRITICAL WHEN WE ARE

354
00:13:58,240 --> 00:13:59,200
INVESTIGATING POPULATION IN

355
00:13:59,200 --> 00:13:59,760
AFRICA.

356
00:13:59,760 --> 00:14:00,880
IN THE MIDDLE OF AFRICA, YOU

357
00:14:00,880 --> 00:14:03,200
HAVE SICKLE CELL, IN SOUTHERN

358
00:14:03,200 --> 00:14:04,080
AFFRIC AYOU DON'T.

359
00:14:04,080 --> 00:14:05,760
ANYTIME YOU HAVE SICKLE CELL IN

360
00:14:05,760 --> 00:14:08,200
SOUTHERN AFRICA OR BLACK SOUTH

361
00:14:08,200 --> 00:14:12,320
AFRICA, YOU DON'T IT MEANS THAT

362
00:14:12,320 --> 00:14:14,200
TYPICALLY, [INDISCERNIBLE]

363
00:14:14,200 --> 00:14:16,720
GENETICALLY DOWN TO SOUTH

364
00:14:16,720 --> 00:14:17,920
AFRICAN BLACKS SO THERE IS A

365
00:14:17,920 --> 00:14:19,560
CLEAR ASSOCIATION BETWEEN

366
00:14:19,560 --> 00:14:20,640
ANTHROPOLOGY CULTURE AND

367
00:14:20,640 --> 00:14:26,760
GENETICS AND THE WAY WE CALL

368
00:14:26,760 --> 00:14:33,040
PEOPLE CAN'T BE, IT HAS TO BE A

369
00:14:33,040 --> 00:14:36,040
SPECIFIC GENETICS TO THE MEDICAL

370
00:14:36,040 --> 00:14:36,480
PRACTICE.

371
00:14:36,480 --> 00:14:38,160
FOR A MORE BETTER BEDDING OFLET

372
00:14:38,160 --> 00:14:40,680
NUMEROUS POPULATION,A LOW US TO

373
00:14:40,680 --> 00:14:43,560
RELINK TO THE [INDISCERNIBLE] IN

374
00:14:43,560 --> 00:14:45,400
THE ROOM, THE DEAD WHAT

375
00:14:45,400 --> 00:14:47,360
CONNECTION AND WE INTRODUCE A

376
00:14:47,360 --> 00:14:49,000
SPECIFIC ISSUE AND A SPECIFIC

377
00:14:49,000 --> 00:14:51,400
SECTION IN THE AMERICAN JOURNAL

378
00:14:51,400 --> 00:14:53,400
OF MEDICAL GENETICS, IT'S MORE

379
00:14:53,400 --> 00:14:55,920
DIVERSE POPULATION AND THESE

380
00:14:55,920 --> 00:14:57,440
STILL EXIST AND THE GOAL IS

381
00:14:57,440 --> 00:14:59,920
CLEARLY TO GIVE THE OPPORTUNITY

382
00:14:59,920 --> 00:15:01,680
TO ALL THOSE PHENOTYPE THAT ARE

383
00:15:01,680 --> 00:15:03,800
NOT NECESSARILY SEEN THAT MAY BE

384
00:15:03,800 --> 00:15:05,920
SPECIFIC TO HAVE A SPACE TO

385
00:15:05,920 --> 00:15:09,640
EASILY PUBLISH IT.

386
00:15:09,640 --> 00:15:11,880
I'LL NOW MOVE TO A CLEAR WERE

387
00:15:11,880 --> 00:15:12,880
AGENDA INFORMED BY OUR

388
00:15:12,880 --> 00:15:14,280
EXPERIENCE WORK NOTHING AFRICA

389
00:15:14,280 --> 00:15:16,480
AS A MEDICAL GENETICIST AND TO

390
00:15:16,480 --> 00:15:18,480
SAY TO PEOPLE HERE THAT THE

391
00:15:18,480 --> 00:15:20,280
FUNDERS ACTUALLY THERE IS A TRUE

392
00:15:20,280 --> 00:15:22,880
REASON WHY WE SHOULD MASSIVELY

393
00:15:22,880 --> 00:15:25,040
INVEST IN GENOMIC VARIATION,

394
00:15:25,040 --> 00:15:27,000
FIRST IS ANCESTRY, WE ARE ALL

395
00:15:27,000 --> 00:15:27,360
AFRICAN.

396
00:15:27,360 --> 00:15:28,920
THE SECOND IS ECOLOGY, AND THE

397
00:15:28,920 --> 00:15:34,600
THIRD 1 IS EQUITY.

398
00:15:34,600 --> 00:15:36,680
ON THE RIGHT SIDE OF THIS SLIDE,

399
00:15:36,680 --> 00:15:37,920
THE FIRST PERSON IS LEEBURGER

400
00:15:37,920 --> 00:15:39,240
AND THE SECOND IS THE

401
00:15:39,240 --> 00:15:40,640
[INDISCERNIBLE] OF SOUTH AFRICA,

402
00:15:40,640 --> 00:15:41,240
[INDISCERNIBLE].

403
00:15:41,240 --> 00:15:42,560
THEY ARE BOTH DOING 1 THING, I

404
00:15:42,560 --> 00:15:48,080
THINK THEY ARE IN A COMPETITION

405
00:15:48,080 --> 00:15:49,680
OF KISS [INDISCERNIBLE].

406
00:15:49,680 --> 00:15:51,720
AND THAT IS 1 OF THOSE THAT WAS

407
00:15:51,720 --> 00:15:53,480
DISCOVERED IN SOUTH AFRICA, THE

408
00:15:53,480 --> 00:15:56,160
REASON I'M SHOWING THIS IS THAT

409
00:15:56,160 --> 00:15:58,120
NOT ONLY WE ARE ALL AFRICAN BUT

410
00:15:58,120 --> 00:16:01,760
SOME OF YOU MAY NOT MOVE

411
00:16:01,760 --> 00:16:03,800
[INDISCERNIBLE] OF AFRICA AND

412
00:16:03,800 --> 00:16:06,400
THERE'S SOME REAL EVIDENCE THAT

413
00:16:06,400 --> 00:16:10,160
WE ALL HAVE TO UP, 3, PERHAPS 5%

414
00:16:10,160 --> 00:16:12,240
OF GENETIC CONTENT OF THOSE

415
00:16:12,240 --> 00:16:14,200
HUMANOID THAT WE CALL GHOST DNA

416
00:16:14,200 --> 00:16:16,160
FOR WHICH WE ARE NOT YET ABLE TO

417
00:16:16,160 --> 00:16:16,880
READ VERY WELL.

418
00:16:16,880 --> 00:16:19,800
I'M SAYING THAT INVESTING IN

419
00:16:19,800 --> 00:16:20,840
AFRICAN POPULATION WOULD ALLOW

420
00:16:20,840 --> 00:16:23,400
US MAYBE TO EXPLORE THOSE DATA.

421
00:16:23,400 --> 00:16:25,920
WHY DO WE NEED TO EXPLORE IT.

422
00:16:25,920 --> 00:16:27,720
LETTAY COME BACK TO COVID-19.

423
00:16:27,720 --> 00:16:29,360
COVID-19 HAD NOT BEEN THAT BAD

424
00:16:29,360 --> 00:16:31,840
IN AFRICA FOR NUMEROUS REASONS,

425
00:16:31,840 --> 00:16:33,920
1 IS IT'S THE YOUNGEST

426
00:16:33,920 --> 00:16:34,840
POPULATION, THE SECOND REASON IS

427
00:16:34,840 --> 00:16:36,920
THIS MARKER THAT WAS DESCRIBED

428
00:16:36,920 --> 00:16:40,240
BY DR. P A BLO IN THE ANCESTRY

429
00:16:40,240 --> 00:16:43,080
THAT WAS INHERITED FROM THE

430
00:16:43,080 --> 00:16:44,000
NEANDERTHAL THAT INCREASED TO

431
00:16:44,000 --> 00:16:47,000
SUCH A HIGH ABILITY TO COVID-19

432
00:16:47,000 --> 00:16:52,960
WITH PEOPLE OF EUROPEAN, WILL BE

433
00:16:52,960 --> 00:16:54,280
IMPORTANT FOR DISEASE AND DNA

434
00:16:54,280 --> 00:16:56,080
CAN IT CAN BEST INVESTIGATED IN

435
00:16:56,080 --> 00:16:57,840
POPULATION OF AFRICAN ANCESTRY.

436
00:16:57,840 --> 00:17:01,320
WE ALSO KNOW THAT THE CURRENT

437
00:17:01,320 --> 00:17:03,560
GENOME DO NOT CAPTURE VARIATION

438
00:17:03,560 --> 00:17:05,480
POPULATION ANCESTRY IN THIS

439
00:17:05,480 --> 00:17:06,560
STUDY.

440
00:17:06,560 --> 00:17:08,960
TEN% OF DNA VARIANT WAS NOT

441
00:17:08,960 --> 00:17:11,320
CAPTURED IN LESS THAN 1000

442
00:17:11,320 --> 00:17:13,400
AFRICAN CARIBBEAN ANCESTRY.

443
00:17:13,400 --> 00:17:15,760
THEY WERE PUBLISHED BY THE

444
00:17:15,760 --> 00:17:18,800
AFRICAN CONSORTIUM ALSO ASSURE

445
00:17:18,800 --> 00:17:20,280
AT LEAST SINGLE COATED

446
00:17:20,280 --> 00:17:20,800
[INDISCERNIBLE].

447
00:17:20,800 --> 00:17:21,720
AND THAT WAY THEY'RE NOT

448
00:17:21,720 --> 00:17:23,000
REFERENCE AND IN EVALUATION IT

449
00:17:23,000 --> 00:17:25,120
SHOWS THATY WE SILL HAVE ROOM TO

450
00:17:25,120 --> 00:17:27,280
DISCOVER SOME OF THOSE NEW

451
00:17:27,280 --> 00:17:27,880
VARIANT.

452
00:17:27,880 --> 00:17:29,600
BY NOT INVESTIGATING THE

453
00:17:29,600 --> 00:17:31,880
POPULATION AFRICAN ANCESTRY, WE

454
00:17:31,880 --> 00:17:34,880
ARE SWITCHING ON OURSELVES

455
00:17:34,880 --> 00:17:38,600
BECAUSE UNDER 2.5% OF GENOME

456
00:17:38,600 --> 00:17:40,720
WIDE ASSOCIATION DATA THAT HAS

457
00:17:40,720 --> 00:17:43,000
DATA FROM POPULATION ANCESTRY

458
00:17:43,000 --> 00:17:44,160
AND THE PERCENT ASSOCIATION AND

459
00:17:44,160 --> 00:17:47,160
THE REASON OF THAT IS THAT THE

460
00:17:47,160 --> 00:17:49,800
SHORTER HAPLOTYPE OF MOST

461
00:17:49,800 --> 00:17:51,440
AFRICAN MAKE FINE MAPPING A BIT

462
00:17:51,440 --> 00:17:54,520
MORE EASIER AND EVEN IF YOU USE

463
00:17:54,520 --> 00:17:58,000
WHOLE EXOHM SEQUENCING, BY

464
00:17:58,000 --> 00:18:01,560
INVESTIGATING SCHIZOPHRENIA THAT

465
00:18:01,560 --> 00:18:03,600
THERE WERE MUTATION IN ABOUT

466
00:18:03,600 --> 00:18:05,520
1000 AFRICAN FROM SOUTH AFRICA.

467
00:18:05,520 --> 00:18:07,200
THOSE RED IN MUTATION WAS

468
00:18:07,200 --> 00:18:10,040
DETECTED IN THE SWEDEN COHORT OF

469
00:18:10,040 --> 00:18:12,400
5000 BUT AFRICAN GROUP YIELDED

470
00:18:12,400 --> 00:18:14,600
MUCH MORE LARGER EFFECT SIZES

471
00:18:14,600 --> 00:18:16,080
BECAUSE OF HIGH LEVEL OF

472
00:18:16,080 --> 00:18:17,600
VARIATION.

473
00:18:17,600 --> 00:18:20,200
SO IT ALL WORKS BUT FOR SINGLE

474
00:18:20,200 --> 00:18:23,200
GENE DISORDER BUT FORCOMPLEX

475
00:18:23,200 --> 00:18:23,520
TRIP.

476
00:18:23,520 --> 00:18:26,480
AND WE ALL KNOW THIS CARTOON BOY

477
00:18:26,480 --> 00:18:29,600
OF THIS TYPE OF ANALYSIS

478
00:18:29,600 --> 00:18:31,720
COMPARISON WHICH IS 1 VARIANT

479
00:18:31,720 --> 00:18:34,280
THAT IS 2 OPINIONED TIMES MORE

480
00:18:34,280 --> 00:18:36,480
POPULAR IN ANCESTRY THAN IN

481
00:18:36,480 --> 00:18:39,120
POPULATION FOR ANCESTRY, OUR

482
00:18:39,120 --> 00:18:40,720
RESPONSIBLE FOR 14% REDUCTION OF

483
00:18:40,720 --> 00:18:43,320
CHOLESTEROL AND THAT LED TO NEW

484
00:18:43,320 --> 00:18:46,440
MEDICATION THAT WE ALL USE.

485
00:18:46,440 --> 00:18:48,720
THESE WERE FOR [INDISCERNIBLE]

486
00:18:48,720 --> 00:18:52,800
AND HIS GROUP DISCOVER 1 GENES

487
00:18:52,800 --> 00:18:54,280
THAT IS MORPHIC BUT IS

488
00:18:54,280 --> 00:18:56,960
RESPONSIBLE FOR TYPE 2 DIABETES.

489
00:18:56,960 --> 00:19:00,480
WHAT DOES THAT MEAN, THAT MEANS

490
00:19:00,480 --> 00:19:02,920
HAVE YOU INVESTIGATED MILLIONS

491
00:19:02,920 --> 00:19:04,240
OF AFRICAN YOU WOULD NOT HAVE

492
00:19:04,240 --> 00:19:06,400
FOUND IT UNLESS YOU INVESTIGATE

493
00:19:06,400 --> 00:19:08,440
A POPULATION WITH AFRICAN

494
00:19:08,440 --> 00:19:08,920
HISTORY.

495
00:19:08,920 --> 00:19:10,880
I WILL NOW MOVE TO A SINGLE GENE

496
00:19:10,880 --> 00:19:11,320
DISORDER.

497
00:19:11,320 --> 00:19:13,120
WE KNOW THAT THE PROFILE OF

498
00:19:13,120 --> 00:19:15,680
SINGLE GENE DISORDER AND VERY

499
00:19:15,680 --> 00:19:15,960
DIFFERENT.

500
00:19:15,960 --> 00:19:17,720
FOR EXAMPLE, HUNTING TON'S

501
00:19:17,720 --> 00:19:19,200
DISEASE, IF YOU HAVE HUNTING

502
00:19:19,200 --> 00:19:22,440
TON'S DISEASE FOR EUROPEAN

503
00:19:22,440 --> 00:19:25,160
ANCESTRY AND TEST FOR HTT, BUT

504
00:19:25,160 --> 00:19:29,360
THAT'S IN 67% OF CASES BUT ONLY

505
00:19:29,360 --> 00:19:31,240
50% WILL BE EXPLAINED BY A

506
00:19:31,240 --> 00:19:32,440
SECOND GENE.

507
00:19:32,440 --> 00:19:37,600
OUR WORK HERE HAVE SHOWN THAT

508
00:19:37,600 --> 00:19:40,840
EXPLAIN 50% OF LOSS IN MOST

509
00:19:40,840 --> 00:19:43,680
EUROPEAN AND ASIAN EXPLAINS IN

510
00:19:43,680 --> 00:19:45,240
MOST AFRICAN, THERE ARE A FEW

511
00:19:45,240 --> 00:19:46,840
EXCEPTIONS, I WILL SPEAK TO IT A

512
00:19:46,840 --> 00:19:47,760
BIT LATER.

513
00:19:47,760 --> 00:19:50,000
THE SECOND REASON WE SHOULD

514
00:19:50,000 --> 00:19:54,480
INVEST IN AFRICAN GENOMIC

515
00:19:54,480 --> 00:19:59,080
VARIATION, THE NORTH-SOUTH AXIS

516
00:19:59,080 --> 00:20:00,080
OF THE CONTINENT.

517
00:20:00,080 --> 00:20:01,560
TO MAKE THAT YOU HAVE THE

518
00:20:01,560 --> 00:20:03,400
CLIMATE FROM 1 AREA TO SOUTH

519
00:20:03,400 --> 00:20:04,800
AFRICA, DIFFERENT TYPE OF FOOD

520
00:20:04,800 --> 00:20:06,520
BUT ALSO DIFFERENT TYPE OF

521
00:20:06,520 --> 00:20:08,560
INFECTION ALONG THE WAY.

522
00:20:08,560 --> 00:20:10,640
AND THIS INFECTION, FOOD AND

523
00:20:10,640 --> 00:20:11,800
ENVIRONMENT ARE MORE NATURAL

524
00:20:11,800 --> 00:20:12,160
SELECTION.

525
00:20:12,160 --> 00:20:14,720
WE ALL KNOW THE STORY OF SICKLE

526
00:20:14,720 --> 00:20:16,480
SOLE DISEASE, WE KNOW THE STORY

527
00:20:16,480 --> 00:20:20,400
OF APOE1 SELECTED AGAINST A

528
00:20:20,400 --> 00:20:20,920
[INDISCERNIBLE].

529
00:20:20,920 --> 00:20:23,120
WE KNOW THE STORY OF SOME VALID

530
00:20:23,120 --> 00:20:25,320
VARIATION THAT WAS SELECTED IN

531
00:20:25,320 --> 00:20:27,080
AFRICA FOR WHICH WE DO NOT YET

532
00:20:27,080 --> 00:20:29,160
HAVE THE REASON FOR EXAMPLE IN

533
00:20:29,160 --> 00:20:31,160
THE CONSORTIUM, THERE WERE 65

534
00:20:31,160 --> 00:20:32,720
MORE LOCI, SUBJECT TO OUR

535
00:20:32,720 --> 00:20:34,160
NATURAL SELECTION, THAT STILL

536
00:20:34,160 --> 00:20:35,600
NEED TO BE EXPLAINED.

537
00:20:35,600 --> 00:20:37,720
OF COURSE THOSE VARIATIONS

538
00:20:37,720 --> 00:20:39,400
SOMETIMES HAVE RELATION TO

539
00:20:39,400 --> 00:20:41,840
DISEASE, LIKE APOE 1 AND KIDNEY

540
00:20:41,840 --> 00:20:43,640
DISFUNCTION IN POPULATION OF

541
00:20:43,640 --> 00:20:49,720
AFRICAN ANCESTRIRY I HOPE

542
00:20:49,720 --> 00:20:51,600
BECAUSE OF THOSE REASONS WE ARE

543
00:20:51,600 --> 00:20:54,640
ALL AFRICAN AND A STUDY OF AN

544
00:20:54,640 --> 00:20:56,840
AFRICAN POPULATION IT IS

545
00:20:56,840 --> 00:20:57,360
IMPERATIVE.

546
00:20:57,360 --> 00:20:59,120
NOW I WILL SPEAK TO THE

547
00:20:59,120 --> 00:21:00,840
IMPERATIVE OF EQUITY.

548
00:21:00,840 --> 00:21:02,360
AFRICA REPRESENT 15% OF THE

549
00:21:02,360 --> 00:21:06,520
WORLD POPULATION BUT TECHNICALLY

550
00:21:06,520 --> 00:21:08,600
5% OF THE PRODUCT MEANS THAT IN

551
00:21:08,600 --> 00:21:10,800
AFRICA, EVEN IF WE HAVE ALL THE

552
00:21:10,800 --> 00:21:12,560
VARIATION POSSIBLY OF OUR GN, WE

553
00:21:12,560 --> 00:21:14,320
MAY NOT ALWAYS BE ABLE TO

554
00:21:14,320 --> 00:21:15,880
INVESTIGATE THEM BECAUSE OF THE

555
00:21:15,880 --> 00:21:20,640
POOR INVESTMENT IN RESEARCH.

556
00:21:20,640 --> 00:21:22,160
AS THE CONSCIENCEQUENCE ISSUES

557
00:21:22,160 --> 00:21:23,760
THE INVESTIGATOR WILL ONLY PAY

558
00:21:23,760 --> 00:21:26,520
PROPERLY IF HE'S LINKED WITH AN

559
00:21:26,520 --> 00:21:28,040
AMERICAN OR EUROPEAN INSTITUTION

560
00:21:28,040 --> 00:21:29,680
EVEN FORINFECTIOUS DISEASE AS

561
00:21:29,680 --> 00:21:31,000
SHOWN ON THIS SLIDE.

562
00:21:31,000 --> 00:21:33,040
AS A CONSEQUENCE, OUR RESEARCH

563
00:21:33,040 --> 00:21:34,880
PRIORITY MAY NOT BE TO RESEARCH

564
00:21:34,880 --> 00:21:36,440
PRIORITIES OF FUNDERS, FOR

565
00:21:36,440 --> 00:21:37,600
EXAMPLE, IN THIS SLIDE THAT WEB

566
00:21:37,600 --> 00:21:39,400
CONNECTED PUBLISHED 10 YEARS

567
00:21:39,400 --> 00:21:43,880
AGO, MOST POPULATION GENETIC IN

568
00:21:43,880 --> 00:21:45,400
AFRICA, GENETIC STUDY BUT NOT

569
00:21:45,400 --> 00:21:46,560
NECESSARILY A STUDY ON CONDITION

570
00:21:46,560 --> 00:21:49,640
THAT MATTER FOR US AS

571
00:21:49,640 --> 00:21:52,480
CLINICIANS, [INDISCERNIBLE] AND

572
00:21:52,480 --> 00:21:54,120
THE KNOWLEDGE OF MOST PHYSICIAN

573
00:21:54,120 --> 00:21:55,880
IS NOT REALLY OPTIMAL BECAUSE

574
00:21:55,880 --> 00:21:57,840
THEY'RE NOT EXPOSED TO GENETICS

575
00:21:57,840 --> 00:21:59,160
IN PRACTICE, THE KNOWLEDGE IN

576
00:21:59,160 --> 00:22:01,120
THE GENERAL POPULATION IS NOT

577
00:22:01,120 --> 00:22:02,720
OPTIMAL FOR EXAMPLE, IN THIS

578
00:22:02,720 --> 00:22:05,080
STUDY, IN WESTERN CAMMA ROON, WE

579
00:22:05,080 --> 00:22:08,360
SHOWED THAT IN THIS FAMILY

580
00:22:08,360 --> 00:22:13,280
SYNDROME, IT WAS CALLED A CURSE

581
00:22:13,280 --> 00:22:14,280
BECAUSE IN THE FAMILY WHERE

582
00:22:14,280 --> 00:22:15,840
THERE FTION A HUGE SYNDROME, IT

583
00:22:15,840 --> 00:22:18,240
WAS BELIEVED THAT THE FOUND OUT

584
00:22:18,240 --> 00:22:20,440
THAT VILLAGE ACHIEVED

585
00:22:20,440 --> 00:22:21,960
[INDISCERNIBLE] THROUGH A CURSE

586
00:22:21,960 --> 00:22:25,400
TO HIS WIFE BECAUSE THEY DID NOT

587
00:22:25,400 --> 00:22:26,840
MOURN SOMEONE FROM THAT VILLAGE

588
00:22:26,840 --> 00:22:30,280
AND THEN HE SAID, YOU OR YOUR

589
00:22:30,280 --> 00:22:33,000
SON WILL HAVE INTELLECTUAL

590
00:22:33,000 --> 00:22:34,240
DISABILITY BUT THAT WAS NOT THE

591
00:22:34,240 --> 00:22:37,360
CASE IT WAS FRAGILE X SYNDROME.

592
00:22:37,360 --> 00:22:39,800
THE [INDISCERNIBLE] UP UNTIL

593
00:22:39,800 --> 00:22:41,640
RECENTLY WE'VE NOT INCLUDED

594
00:22:41,640 --> 00:22:44,200
AFRICAN SENTING PUBLICATION, NOT

595
00:22:44,200 --> 00:22:45,600
INCLUDING AFRICAN OR

596
00:22:45,600 --> 00:22:46,640
PUBLICICATION, BUT THING VS

597
00:22:46,640 --> 00:22:48,200
CHANGED OVER THE PAST FEW

598
00:22:48,200 --> 00:22:50,000
YEARINGS THROUGH AFRICA AND

599
00:22:50,000 --> 00:22:51,280
THESE BIG PROGRAM HAVE ALLOWED

600
00:22:51,280 --> 00:22:52,600
NOT ONLY TO HAVE A BETTER

601
00:22:52,600 --> 00:22:54,280
KNOWLEDGE OF THE STRUCTURE OF

602
00:22:54,280 --> 00:22:57,840
AFRICAN POPULATION, USING GNA

603
00:22:57,840 --> 00:23:00,720
AND GENOME POPULATION WITHIN

604
00:23:00,720 --> 00:23:02,520
AFRICA, WE HAVE AFRICAN

605
00:23:02,520 --> 00:23:05,440
INVESTIGATOR TO BE VERY PRESENT

606
00:23:05,440 --> 00:23:08,040
IN HIGH POWER PUBLICATION IN THE

607
00:23:08,040 --> 00:23:08,520
LITERATURE.

608
00:23:08,520 --> 00:23:10,720
HE IS ALLOWED A AFRICAN PI TO

609
00:23:10,720 --> 00:23:12,200
TRAIN GENERATIONS OR THE NEXT

610
00:23:12,200 --> 00:23:13,760
GENERATION OF SCIENTISTS AND

611
00:23:13,760 --> 00:23:15,720
VERY PROUD PERSONALLY TO SEE IN

612
00:23:15,720 --> 00:23:18,480
THE ROOM SAMUEL EDMOND AND ALSO

613
00:23:18,480 --> 00:23:21,640
CEDRIC [INDISCERNIBLE] IN MY

614
00:23:21,640 --> 00:23:26,720
RESEARCH AND THAT MEANS WE DID A

615
00:23:26,720 --> 00:23:28,640
GOOD JOB AND THESE ARE A FEW

616
00:23:28,640 --> 00:23:29,920
EXAMPLES OF PEOPLE WHO HAVE A

617
00:23:29,920 --> 00:23:31,400
Ph.D. IN MY GROUP AND WHICH

618
00:23:31,400 --> 00:23:32,480
THE INDEPENDENT CAREER ACROSS

619
00:23:32,480 --> 00:23:32,880
THE WORLD.

620
00:23:32,880 --> 00:23:34,280
THIS WOULD NOD HAVE HAPPENED

621
00:23:34,280 --> 00:23:35,680
BEFORE THE RECENT INVESTMENT.

622
00:23:35,680 --> 00:23:38,280
I WILL NOW USE 2 EXAMPLE TO SHOW

623
00:23:38,280 --> 00:23:42,160
HOW WE CAN HARNESS THE GENETIC

624
00:23:42,160 --> 00:23:45,640
VERYIATION BUT AT THE SAME TIME

625
00:23:45,640 --> 00:23:47,160
SHOW THE ANCESTRY.

626
00:23:47,160 --> 00:23:50,560
I WILL START WITH THE TRAGEDY OF

627
00:23:50,560 --> 00:23:52,640
THE COMMON SICKLE CELL DISEASE.

628
00:23:52,640 --> 00:23:53,840
THIS WAS DISCOVERED 112 YEARS

629
00:23:53,840 --> 00:23:56,800
AGO, WE KNOW THAT MOST PEOPLE

630
00:23:56,800 --> 00:23:58,240
THAT EVOLVE IN SICKLE CELL

631
00:23:58,240 --> 00:24:00,440
DISEASE AT LEAST FROM MY

632
00:24:00,440 --> 00:24:04,760
PERSPECTIVE ALSO INTRODUCE ME TO

633
00:24:04,760 --> 00:24:06,040
GENETICS, ACTUALLY I SHARE WITH

634
00:24:06,040 --> 00:24:08,280
YOU A PRIVATE E-MAIL THAT SENT

635
00:24:08,280 --> 00:24:14,760
TO ME BY WILLIAM KAZAZIAN WHERE

636
00:24:14,760 --> 00:24:21,160
HE WAS REMINDING ME THAT BY

637
00:24:21,160 --> 00:24:23,880
DRAINING JOHNS HOPKINS, AND THAT

638
00:24:23,880 --> 00:24:26,160
I WAS HIS GREAT GRANDSON TSKLY

639
00:24:26,160 --> 00:24:27,920
AND HE HAD PEOPLE IN THE LINEAGE

640
00:24:27,920 --> 00:24:30,280
AND SO I WENT BACK AND AT EVERY

641
00:24:30,280 --> 00:24:32,320
SINGLE PERSON HE REQUEST,

642
00:24:32,320 --> 00:24:33,760
UNFORTUNATELY WHEN I JOINED

643
00:24:33,760 --> 00:24:35,040
HOPKINS IN JANUARY HE WAS GONE

644
00:24:35,040 --> 00:24:37,840
AND FINALLY, I'M SITTING IN HIS

645
00:24:37,840 --> 00:24:39,840
OFFICE AT THIS MOMENT SO THE

646
00:24:39,840 --> 00:24:40,960
HISTORY WILL CONTINUE.

647
00:24:40,960 --> 00:24:45,120
SICKLE CELL DISEASE, IN AFRICA

648
00:24:45,120 --> 00:24:47,240
[INDISCERNIBLE] HIS WORK 7000

649
00:24:47,240 --> 00:24:49,440
YEARS AGO, AND THIS IS A

650
00:24:49,440 --> 00:24:51,760
CONDITION THAT SHOWED RED BLED

651
00:24:51,760 --> 00:24:53,840
CELL ON THE HYPOXIA AND THOSE

652
00:24:53,840 --> 00:24:56,120
DISTORTED RED BLOOD CELL

653
00:24:56,120 --> 00:24:58,000
OBSTRUCT VASE O, AND AS A

654
00:24:58,000 --> 00:25:00,120
CONSEQUENCE YOU HAVE ORGAN

655
00:25:00,120 --> 00:25:03,560
DAMAGE AND ALSO ABILITY TO

656
00:25:03,560 --> 00:25:04,600
INFECTION.

657
00:25:04,600 --> 00:25:05,600
SINCE 112 YEARS AGO, THERE IS

658
00:25:05,600 --> 00:25:08,160
NOT YET REALLY AVAILABLE

659
00:25:08,160 --> 00:25:11,280
DEFINITIVE CURE THAT IS REALLY,

660
00:25:11,280 --> 00:25:12,240
REALLY EQUITABLE.

661
00:25:12,240 --> 00:25:14,000
WE KNOW THERE IS BONE MARROW

662
00:25:14,000 --> 00:25:15,240
TRANSPLANTATION AND MOST

663
00:25:15,240 --> 00:25:17,080
RECENTLY GENETICS AND GENE

664
00:25:17,080 --> 00:25:20,120
THERAPY BUT IN AFRICA, HALF OF

665
00:25:20,120 --> 00:25:21,760
CHILDREN WILL STILL BY BEFORE

666
00:25:21,760 --> 00:25:24,200
YEAR 5, IN AMERICA THE SITUATION

667
00:25:24,200 --> 00:25:26,160
HAVEN'T CHANGED DRAMATICALLY

668
00:25:26,160 --> 00:25:27,920
ADULTS WITH SICKLE CELL DISEASE

669
00:25:27,920 --> 00:25:29,200
DIE IN THEIR 50S.

670
00:25:29,200 --> 00:25:30,360
THAT MEANS IN ALL PART OF THE

671
00:25:30,360 --> 00:25:31,680
THE WORLD WE NEED TO LOOK FOR

672
00:25:31,680 --> 00:25:34,200
SOLUTION FOR CURE FOR SICKLE

673
00:25:34,200 --> 00:25:35,920
CELL AND FOR EXAMPLE, PEOPLE

674
00:25:35,920 --> 00:25:37,480
WITH SICKLE CELL DISEASE WOULD

675
00:25:37,480 --> 00:25:41,280
DIE BEFORE OF VASCULAR

676
00:25:41,280 --> 00:25:42,440
COMPLICATION AS SIZE SHOWN IN

677
00:25:42,440 --> 00:25:44,840
THIS SLIDE, ALL THIS ARE SUBJECT

678
00:25:44,840 --> 00:25:48,480
TO GENETIC VARIATION, SO I

679
00:25:48,480 --> 00:25:50,200
PROPOSE SO I SAY THESE ARE

680
00:25:50,200 --> 00:25:54,240
TREATABLE FOR SICKLE CELL

681
00:25:54,240 --> 00:25:55,960
PRIMARY SECONDARY PREVENTION AND

682
00:25:55,960 --> 00:25:56,720
THERAPY.

683
00:25:56,720 --> 00:25:58,120
PRIMARY IS ONLY GENETIC BEFORE

684
00:25:58,120 --> 00:26:02,120
BIRTH AND THIS POSED A LOT OF

685
00:26:02,120 --> 00:26:04,240
POLITICAL ISSUE IN AT LEAST 3

686
00:26:04,240 --> 00:26:04,920
DIFFERENT AFRICAN COUNTRY.

687
00:26:04,920 --> 00:26:09,400
WE SHOW A POTENTIAL CONFLICT

688
00:26:09,400 --> 00:26:11,600
AMONGST DIFFERENT LAYER OF THE

689
00:26:11,600 --> 00:26:15,040
POPULATION, THE DR. ARE NOT

690
00:26:15,040 --> 00:26:16,560
COMFORTABLE AT ALL FOR THE

691
00:26:16,560 --> 00:26:17,640
SICKLE CELL DISEASE WHICH IS NOT

692
00:26:17,640 --> 00:26:20,320
THE CASE FOR THE PARENT-AFFECTED

693
00:26:20,320 --> 00:26:22,280
CHILDREN AS WELL AS ADULT

694
00:26:22,280 --> 00:26:22,680
SITUATION.

695
00:26:22,680 --> 00:26:24,800
SO WE THOUGHT THAT MOVING

696
00:26:24,800 --> 00:26:25,920
GENETIC FOR SECONDARY PREVENTION

697
00:26:25,920 --> 00:26:27,400
WILL BE A GOOD APPROACH IN

698
00:26:27,400 --> 00:26:29,680
RESEARCH, THE REASON WHY WE HAVE

699
00:26:29,680 --> 00:26:31,960
INVESTED THIS DAY, TO LOOK FOR

700
00:26:31,960 --> 00:26:34,160
SUCH ABILITY FOR COMPLICATION

701
00:26:34,160 --> 00:26:35,400
WITH SICKLE CELL DISEASE.

702
00:26:35,400 --> 00:26:38,520
THIS IS THE CASE FOR COMMITTEE

703
00:26:38,520 --> 00:26:40,760
DYSFUNCTION WHERE WE SHOWED THAT

704
00:26:40,760 --> 00:26:46,120
3 GENES, APOA, AND MARKER AND

705
00:26:46,120 --> 00:26:49,280
HLA 1 MUST EXPLAIN THE KIDNEY

706
00:26:49,280 --> 00:26:50,840
DYSFUNCTION AND SICKLE CELL

707
00:26:50,840 --> 00:26:51,720
DISEASE.

708
00:26:51,720 --> 00:26:56,280
AND FOR THERAPY, ABOUT 40 YEARS

709
00:26:56,280 --> 00:26:57,920
BECAUSE OF THE COOPERATIVE STUDY

710
00:26:57,920 --> 00:26:59,360
THAT WAS PERFORMED IN THIS

711
00:26:59,360 --> 00:27:00,920
COUNTRY, HIGH LEVEL OF

712
00:27:00,920 --> 00:27:02,040
[INDISCERNIBLE] WAS ASSOCIATED

713
00:27:02,040 --> 00:27:04,640
WITH LONGER SURVIVAL.

714
00:27:04,640 --> 00:27:07,080
[INDISCERNIBLE] QUANTITATIVE

715
00:27:07,080 --> 00:27:10,880
SUBJECT TO GENETIC  VARIATION AD

716
00:27:10,880 --> 00:27:11,920
THIS ALLOWS THE DOCTOR'S GROUP

717
00:27:11,920 --> 00:27:15,800
TO SHOW THAT BY REMOVING THE

718
00:27:15,800 --> 00:27:16,800
TRANSCRIPTIONAL [INDISCERNIBLE]

719
00:27:16,800 --> 00:27:21,640
THAT IS BCL11A, CAN YOU CURE IN

720
00:27:21,640 --> 00:27:23,920
MICE FOR SICKLE CELL DISEASE.

721
00:27:23,920 --> 00:27:25,240
EVERYBODY WAS VERY EXCITED FOR

722
00:27:25,240 --> 00:27:26,400
THE NEWS BECAUSE WE THOUGHT THAT

723
00:27:26,400 --> 00:27:29,360
WAS THE BEST TARGET FOR SICKLE

724
00:27:29,360 --> 00:27:30,880
CELL UNTIL SOMEONE REALIZED THAT

725
00:27:30,880 --> 00:27:32,320
THEY ARE REAL PATIENT IN REAL

726
00:27:32,320 --> 00:27:34,680
LIFE THAT HAVE A DELETION OF

727
00:27:34,680 --> 00:27:35,800
B-CELL 11.

728
00:27:35,800 --> 00:27:37,160
THESE PATIENTS HAVE INCREASED

729
00:27:37,160 --> 00:27:39,280
LEVEL OF HEMOGLOBIN BUT THEY

730
00:27:39,280 --> 00:27:42,520
HAVE SOME INTELLECT ABILITY AND

731
00:27:42,520 --> 00:27:44,760
[INDISCERNIBLE] FORMATION THAT

732
00:27:44,760 --> 00:27:49,560
BAKE BCL 11 AT THAT TIME NEARLY

733
00:27:49,560 --> 00:27:51,280
UNDRUGGABLE, AGAIN

734
00:27:51,280 --> 00:27:52,320
DR. [INDISCERNIBLE] AND HIS

735
00:27:52,320 --> 00:27:54,040
GROUP SHOW THERE IS A

736
00:27:54,040 --> 00:27:56,040
TRANSCRIPTIONAL ENHANCER OF

737
00:27:56,040 --> 00:27:57,320
BCL11 THAT IS SPECIFIC FOR THE

738
00:27:57,320 --> 00:28:00,400
BLOOD CELL OTHERWISE MODIFIED

739
00:28:00,400 --> 00:28:02,400
BC11 ONLY IN RED BLOOD CELL AND

740
00:28:02,400 --> 00:28:04,480
BY CHANGING VOLUME OF THAT

741
00:28:04,480 --> 00:28:06,360
ENHANCER, YOU HAVE THE SAISM

742
00:28:06,360 --> 00:28:08,480
EFFECT IF YOU ARE REMOVED BCL 11

743
00:28:08,480 --> 00:28:11,480
AND IN SUMMARY, YOU REMOVE BCL

744
00:28:11,480 --> 00:28:12,760
11 AND HAVE YOU A CHILD CURE OF

745
00:28:12,760 --> 00:28:15,560
SICKLE CELL, BECAUSE OF NEURO,

746
00:28:15,560 --> 00:28:17,200
DEVELOPMENTAL CONDITION.

747
00:28:17,200 --> 00:28:20,040
YOU MODIFY A LITTLE VARIANT, 50

748
00:28:20,040 --> 00:28:22,520
KB ABOVE AND BEFORE BCL 11.

749
00:28:22,520 --> 00:28:26,840
YOU HAVE INCREASED LEVEL OF

750
00:28:26,840 --> 00:28:28,560
[INDISCERNIBLE] WITHOUT THOSE

751
00:28:28,560 --> 00:28:30,200
MALFORMATION AND BASED ON THAT

752
00:28:30,200 --> 00:28:31,720
THE SUCCESSFUL GENE FOR SICKLE

753
00:28:31,720 --> 00:28:35,480
CELL DISEASE, 1 THAT WAS

754
00:28:35,480 --> 00:28:38,160
PUBLISHED THIS YEAR.

755
00:28:38,160 --> 00:28:41,160
BUT HOW I STUDIED DOZE OF MY

756
00:28:41,160 --> 00:28:42,920
COLLEAGUE, JULIE [INDISCERNIBLE]

757
00:28:42,920 --> 00:28:46,960
IN TANS SWRANNIA, SHOW THAT

758
00:28:46,960 --> 00:28:49,800
THESE  3 VARIANT SHOW THE SICKLE

759
00:28:49,800 --> 00:28:51,800
CELL DISEASE IN EUROPEANS RATHER

760
00:28:51,800 --> 00:28:58,040
EXPLAIN MAXIMUM 20% OF OUR

761
00:28:58,040 --> 00:28:59,240
PATIENT ARE AFRICAN.

762
00:28:59,240 --> 00:29:00,920
SO MAYBE WE DIDN'T FIND THE

763
00:29:00,920 --> 00:29:02,080
MISSING ABILITY BECAUSE THE GWAS

764
00:29:02,080 --> 00:29:04,920
THEY USE TO PERFORM THIS STUDY

765
00:29:04,920 --> 00:29:07,280
WAS DESIGNED ON EUROPEAN

766
00:29:07,280 --> 00:29:08,800
BACKGROUND.

767
00:29:08,800 --> 00:29:12,080
USING THE ADVANTAGE OF THE

768
00:29:12,080 --> 00:29:15,160
DEVELOPED BY [INDISCERNIBLE],

769
00:29:15,160 --> 00:29:16,920
THE GWAS FOR HEMOGLOBIN IN A

770
00:29:16,920 --> 00:29:19,160
GROUP OF SICKLE CELL DISEASE

771
00:29:19,160 --> 00:29:22,760
FROM CAMEROON, WE FOUND AT LEAST

772
00:29:22,760 --> 00:29:24,080
3 THAT EXPLAIN HEMOGLOBIN.

773
00:29:24,080 --> 00:29:26,320
ONE IS VERY STRONG HERE ON

774
00:29:26,320 --> 00:29:26,680
CHROMOSOME 15.

775
00:29:26,680 --> 00:29:28,200
WE KNOW THE GENES THAT IS

776
00:29:28,200 --> 00:29:28,520
EXPLAINED.

777
00:29:28,520 --> 00:29:30,480
WE ARE NOW DOING SOME CELL

778
00:29:30,480 --> 00:29:34,120
EXPERIMENT TO SHOW THE MECHANISM

779
00:29:34,120 --> 00:29:34,720
OF THAT.

780
00:29:34,720 --> 00:29:39,040
WE HAVE DONE AN ANALYSIS BETWEEN

781
00:29:39,040 --> 00:29:40,360
AFRICAN COHORT, THE PUBLISHED

782
00:29:40,360 --> 00:29:44,280
DATA FROM JULIA FROM TANZANIA,

783
00:29:44,280 --> 00:29:45,640
AND ALL INVESTIGATOR IN THIS

784
00:29:45,640 --> 00:29:47,280
COUNTRY HAVE GIVEN UP ACCESS TO

785
00:29:47,280 --> 00:29:50,360
DATA FROM AFRICAN AMERICAN AND I

786
00:29:50,360 --> 00:29:52,840
OUR META-ANALYSIS OF ALL THOSE

787
00:29:52,840 --> 00:29:56,440
DATA SHOW VERY STRONG--NOT ONLY

788
00:29:56,440 --> 00:29:57,840
CONNECTION OF THE VARIANT, THE

789
00:29:57,840 --> 00:29:59,680
TEAM BUT 3 NEW VARIANT THAT

790
00:29:59,680 --> 00:30:03,480
WOULD BE EXPLORED, A TARGET OF

791
00:30:03,480 --> 00:30:03,920
THERAPY.

792
00:30:03,920 --> 00:30:08,120
I HOPE THAT REQUEST

793
00:30:08,120 --> 00:30:08,640
[INDISCERNIBLE] TOO MUCH

794
00:30:08,640 --> 00:30:10,800
[INDISCERNIBLE] ON THIS YOU

795
00:30:10,800 --> 00:30:11,160
UNDERSTAND WHY.

796
00:30:11,160 --> 00:30:14,680
WE NEED TO DO THAT BECAUSE THIS

797
00:30:14,680 --> 00:30:16,160
IS [INDISCERNIBLE], THIS IS A

798
00:30:16,160 --> 00:30:17,880
REAL PATIENT LIVING WITH SICKLE

799
00:30:17,880 --> 00:30:18,480
CELL DISEASE.

800
00:30:18,480 --> 00:30:19,960
HE'S A PATIENT FROM SOUTH

801
00:30:19,960 --> 00:30:20,320
AFRICA.

802
00:30:20,320 --> 00:30:23,680
IN THIS NATURE, HE IS TELLING

803
00:30:23,680 --> 00:30:26,680
HIS OWN STORY, HIS LIFE STORY

804
00:30:26,680 --> 00:30:28,360
AND HIS HOPE IS ASPIRATION THAT

805
00:30:28,360 --> 00:30:30,120
THE RESEARCHER WILL BE ABLE TO

806
00:30:30,120 --> 00:30:34,800
MAKE GENE EDITING, GENE THERAPY

807
00:30:34,800 --> 00:30:37,200
EQUITABLE SPECIFICALLY FOR THOSE

808
00:30:37,200 --> 00:30:38,400
PEOPLE IN FARTHEST PART OF THE

809
00:30:38,400 --> 00:30:42,080
WORLD IN AFRICA THAT REALLY NEED

810
00:30:42,080 --> 00:30:42,400
IT.

811
00:30:42,400 --> 00:30:43,960
ONE THING THAT HAVE NOT YET

812
00:30:43,960 --> 00:30:46,680
PROPERLY BEEN INVESTIGATED IS

813
00:30:46,680 --> 00:30:49,160
OLDER VARIANT THAT MODIFIED GENE

814
00:30:49,160 --> 00:30:50,280
EXPRESSION OF SICKLE CELL

815
00:30:50,280 --> 00:30:51,920
DISEASE AND IN THIS INITIAL

816
00:30:51,920 --> 00:30:53,360
STUDY THAT WE PERFORM ISSUES WE

817
00:30:53,360 --> 00:30:55,600
LOOK FOR THOSE RARE MUTATION

818
00:30:55,600 --> 00:30:57,200
THAT MAY BE ASSOCIATED WITH

819
00:30:57,200 --> 00:30:58,400
LONG-TERMS OF CYCLE CELL

820
00:30:58,400 --> 00:30:59,440
DISEASE.

821
00:30:59,440 --> 00:31:00,440
MAYBE 1 IMPORTANT FINDINGS HERE

822
00:31:00,440 --> 00:31:05,920
IWAS THAT IN THE LONG SURVERIFIR

823
00:31:05,920 --> 00:31:07,520
WE FOUND GENES THAT LOWER BLOOD

824
00:31:07,520 --> 00:31:09,000
PRESSURE IN SICKLE CELL DISEASE

825
00:31:09,000 --> 00:31:10,000
BUT ALSO SOME GENES THAT

826
00:31:10,000 --> 00:31:16,040
INCREASE THE LEVEL OF L

827
00:31:16,040 --> 00:31:17,080
L-GLUTAMINE TO THAT THESE

828
00:31:17,080 --> 00:31:18,960
VARIANT POTENTIALLY INCREASE OR

829
00:31:18,960 --> 00:31:21,080
GENEROUSLY THE L-GLUTAMINE IN

830
00:31:21,080 --> 00:31:22,000
THOSE PATIENTS.

831
00:31:22,000 --> 00:31:23,640
WE EXTEND THIS STUDY IN MORE

832
00:31:23,640 --> 00:31:25,120
PATIENT, WE HAVE MORE THAN 2000

833
00:31:25,120 --> 00:31:28,360
PATIENT AND DATA TO CONFIRM

834
00:31:28,360 --> 00:31:29,480
THESE DATA.

835
00:31:29,480 --> 00:31:32,760
WHY IS IT IMPORTANT TO LOOK FOR

836
00:31:32,760 --> 00:31:33,240
[INDISCERNIBLE]?

837
00:31:33,240 --> 00:31:37,160
AGAIN, THIS IS IN A COUSIN OF MY

838
00:31:37,160 --> 00:31:38,920
NIEWBIAN ANCESTRY, THE ALL

839
00:31:38,920 --> 00:31:42,240
EGYPTIAN ARE MY COUSIN SO THIS

840
00:31:42,240 --> 00:31:47,600
GUY IS TUTANKHAMUN, HE HAD

841
00:31:47,600 --> 00:31:50,280
SICKLE CELL DISEASE, AS WELL AS

842
00:31:50,280 --> 00:31:53,000
THE MRI OF HIS BONE HERE THAT

843
00:31:53,000 --> 00:31:55,680
SHOW NECKROSIS THAT WAS SPECIFIC

844
00:31:55,680 --> 00:31:58,000
TO SICKLE CELL SEIZE.

845
00:31:58,000 --> 00:31:59,600
HE LIVED 6000 YEARS AGO.

846
00:31:59,600 --> 00:32:01,520
THAT MEANS FOR AT LEAST 6000

847
00:32:01,520 --> 00:32:03,120
YEARS SICKLE CELL DISEASE MIGHT

848
00:32:03,120 --> 00:32:04,440
HAVE PUT SPECIFIC PRESSURE ON

849
00:32:04,440 --> 00:32:05,160
THE GERONTOLOGYSTS MEMORY CLONE

850
00:32:05,160 --> 00:32:06,920
OF THOSE THAT HAVE THE CONDITION

851
00:32:06,920 --> 00:32:10,920
ANDER HAPPENS--PERHAPS WE HAVE N

852
00:32:10,920 --> 00:32:12,680
DUE TO SICKLE CELL ITSELF.

853
00:32:12,680 --> 00:32:14,280
WE PUT THIS IN A VERY SMALL

854
00:32:14,280 --> 00:32:15,960
COHORT AND SHOW AT LEAST 3

855
00:32:15,960 --> 00:32:17,920
REGION THAT ARE FOUND TO BE

856
00:32:17,920 --> 00:32:19,240
SELECT INDEED PATIENT OF SICKLE

857
00:32:19,240 --> 00:32:20,480
CELL DISEASE BUT NOT IN CONTROL

858
00:32:20,480 --> 00:32:22,640
IN THE SAMPLE POPULATION AND WE

859
00:32:22,640 --> 00:32:24,920
WILL EXTEND THIS DATA BECAUSE AT

860
00:32:24,920 --> 00:32:26,440
THE TIME WE PERFORM THENS, WE

861
00:32:26,440 --> 00:32:27,920
DID NOT HAVE THE NECESSARY POWER

862
00:32:27,920 --> 00:32:29,360
AND WE SHOULD BE ABLE TO SHOW

863
00:32:29,360 --> 00:32:30,560
MORE ON THIS.

864
00:32:30,560 --> 00:32:33,360
WHY DO WE NEED TO LOOK FOR THOSE

865
00:32:33,360 --> 00:32:36,920
MARKERS OF SELECTION, IT IS

866
00:32:36,920 --> 00:32:37,920
POSSIBLE THAT MANY OF THESE WERE

867
00:32:37,920 --> 00:32:38,640
AT THE SAME TIME.

868
00:32:38,640 --> 00:32:40,440
THIS IS A SIMPLE STUDY THAT 1 OF

869
00:32:40,440 --> 00:32:42,920
MY GRADUATES PERFORMED.

870
00:32:42,920 --> 00:32:46,840
WE LOOK FOR DATA OF 3, 4, AT

871
00:32:46,840 --> 00:32:48,680
LEAST VARIANT THAT HAD BEEN

872
00:32:48,680 --> 00:32:51,560
SELECT INDEED AFRICA, 1 IS THE

873
00:32:51,560 --> 00:32:53,040
SICKLE SEAL DISEASE, THE THIRD 1

874
00:32:53,040 --> 00:32:54,840
IS [INDISCERNIBLE] AND THE FIRST

875
00:32:54,840 --> 00:32:56,560
IS APOE1.

876
00:32:56,560 --> 00:32:59,680
AS YOU CAN SEE MOST OF THOSE

877
00:32:59,680 --> 00:33:01,280
DATA ARE EXACTLY THE SAME REGION

878
00:33:01,280 --> 00:33:02,680
AND IT SUGGESTS THAT SOMEONE

879
00:33:02,680 --> 00:33:05,440
LIKE ME WHO MAY HAVE ALL THOSE

880
00:33:05,440 --> 00:33:07,320
TYPE VARIANT IN HIS BLOOD AND

881
00:33:07,320 --> 00:33:09,760
EACH OF THE VARIANT HAS EFFECT

882
00:33:09,760 --> 00:33:10,760
ON THE HEALTH AND DISEASE.

883
00:33:10,760 --> 00:33:13,800
HOW IF WE COMBANE ALL OF THEM, I

884
00:33:13,800 --> 00:33:16,720
AM INVITING YOUR MIND, YOUR

885
00:33:16,720 --> 00:33:18,440
YOUNG AFRICAN MIND MATHEMATICIAN

886
00:33:18,440 --> 00:33:20,520
TO DESIGN NEW WAYS TO INTEGRATE

887
00:33:20,520 --> 00:33:22,920
THIS FOR EXAMPLE FOR GENETIC

888
00:33:22,920 --> 00:33:24,200
MEDICINE, THE INTERACTION OF

889
00:33:24,200 --> 00:33:26,080
THIS VARIANT AND THE IMPACT ON

890
00:33:26,080 --> 00:33:28,360
HUB AND DISEASE OF PEOPLE WITH

891
00:33:28,360 --> 00:33:28,960
AFRICAN ANCESTRY.

892
00:33:28,960 --> 00:33:30,080
WE BELIEVE TO HAVE THE TOOLS TO

893
00:33:30,080 --> 00:33:31,120
DO IT.

894
00:33:31,120 --> 00:33:35,080
WE HAVE SET THE C COHORT OF NEAY

895
00:33:35,080 --> 00:33:38,960
15,000 SICKLE CELL DISEASE

896
00:33:38,960 --> 00:33:40,920
ACROSS 7 DIFFERENT AFRICAN

897
00:33:40,920 --> 00:33:44,560
COUNTRY, WE ARE FUNDED BY NHLBI

898
00:33:44,560 --> 00:33:46,560
AND WE HOPEFULLY IN THE 5 YEARS

899
00:33:46,560 --> 00:33:47,840
WE WILL ABLE TO ADDRESS THESE

900
00:33:47,840 --> 00:33:50,480
QUESTIONS ACROSS THE CONTINENT.

901
00:33:50,480 --> 00:33:54,600
MY SECOND STORY TO EXPLAIN WHY

902
00:33:54,600 --> 00:33:56,000
INVESTIGATING AFRICAN GENETIC

903
00:33:56,000 --> 00:33:57,760
VARIATION WILL INFORM HEALTH FOR

904
00:33:57,760 --> 00:33:59,880
PEOPLE IN AFRICA DPLOABALLY IS

905
00:33:59,880 --> 00:34:03,240
THE STORY OF HERE KD--SALLY

906
00:34:03,240 --> 00:34:04,240
[INDISCERNIBLE] AND I CAUSE THIS

907
00:34:04,240 --> 00:34:07,080
THE CASE OF A SILENT EPIDEMI.

908
00:34:07,080 --> 00:34:09,880
HERE IN AMERICAN AT BIRTH ABOUT

909
00:34:09,880 --> 00:34:10,960
2 AND 1000 CHILD.

910
00:34:10,960 --> 00:34:14,720
IN NIGERIA ABOUT 71,000 CHILDS

911
00:34:14,720 --> 00:34:23,920
ARE AFRICAN AND 6000 CHILDREN.

912
00:34:23,920 --> 00:34:27,640
SO WHEN A CHILD IS BORN DEAF,

913
00:34:27,640 --> 00:34:29,600
50% OF THE TIME THIS WILL BE DUE

914
00:34:29,600 --> 00:34:31,400
TO GENETIC CAUSE AND MOST OF THE

915
00:34:31,400 --> 00:34:33,280
TIME IT'S NONSYNDROMIC.

916
00:34:33,280 --> 00:34:34,440
OUR DATA SHOWS THAT FOR THOSE

917
00:34:34,440 --> 00:34:37,040
CHILDREN THAT HAVE HEARING

918
00:34:37,040 --> 00:34:38,640
IMPAIRMENT, THERE'S SOMETHING

919
00:34:38,640 --> 00:34:41,560
ELSE, VANNEDDEN BERG SYNDROME

920
00:34:41,560 --> 00:34:42,680
WOULD SUGGEST HEARING IMPAIRMENT

921
00:34:42,680 --> 00:34:44,400
AND SOME BIGMENTATION DEFECT,

922
00:34:44,400 --> 00:34:48,320
FOR EXAMPLE, STRIKING BLUE EYES

923
00:34:48,320 --> 00:34:50,760
IN THIS BROTHER AND SISTER AND

924
00:34:50,760 --> 00:34:55,120
THE EXPLOR AGZ HAS BEEN SIMILAR

925
00:34:55,120 --> 00:34:59,000
AND THIS WAARDENBURG SYNDROME

926
00:34:59,000 --> 00:35:02,400
TYPE 2.

927
00:35:02,400 --> 00:35:06,160
DATA FROM THE A GROUP OF PEOPLE

928
00:35:06,160 --> 00:35:08,360
SHOWS THAT GDB 2 SPOKE TO IT

929
00:35:08,360 --> 00:35:11,040
BEFORE DO NOT EXPLAIN HERE

930
00:35:11,040 --> 00:35:12,040
HEARING IMPAIRMENT IN MOST

931
00:35:12,040 --> 00:35:14,160
POPULATION OF AFRICAN ANCESTRY.

932
00:35:14,160 --> 00:35:17,000
WE FOUND 1 EXCEPTION IN GANNAA

933
00:35:17,000 --> 00:35:20,120
WHERE WE FOUND OUT A MUTATION

934
00:35:20,120 --> 00:35:22,240
WILL EXPLAIN 1 FAMILY OUT OF 3.

935
00:35:22,240 --> 00:35:24,960
BECAUSE THAT WAS A CANNED WHAT

936
00:35:24,960 --> 00:35:28,160
IN THE ROOM DEVELOP A RAPID TEST

937
00:35:28,160 --> 00:35:31,160
FOR THAT VARIANT THAT CAN BE

938
00:35:31,160 --> 00:35:32,400
IMPLEMENTED VERY EASILY AND IT

939
00:35:32,400 --> 00:35:34,400
CAN BE TEST INDEED ANY KITCHEN

940
00:35:34,400 --> 00:35:38,320
IN GANA, AND WE WENT TO GANA TO

941
00:35:38,320 --> 00:35:40,160
THE RAPID TEST OF THE NEW BORN

942
00:35:40,160 --> 00:35:42,120
SCREENING PROGRAM IN GANA, A

943
00:35:42,120 --> 00:35:45,160
REAL PROOF OF EASY GENETIC

944
00:35:45,160 --> 00:35:45,880
IMPLEMENTATION.

945
00:35:45,880 --> 00:35:47,280
WE ALSO TOOK THE OPPORTUNITY TO

946
00:35:47,280 --> 00:35:48,280
EXPLORE WHY THE YOU HADITATION

947
00:35:48,280 --> 00:35:50,640
AND WHEN THE MUTATION OCCUR IN

948
00:35:50,640 --> 00:35:53,800
GANA AND WE FOUND OUT THAT INCUR

949
00:35:53,800 --> 00:35:57,080
IN GHANA, 11,000 YEARS AGO IN A

950
00:35:57,080 --> 00:36:00,160
SINGLE GHANAIAN SYMMETRY, AND IT

951
00:36:00,160 --> 00:36:02,960
WAS DESCRIBED IN JEOPARDY AN,

952
00:36:02,960 --> 00:36:05,280
OUR INVESTIGATOR SHOWS THAT OUR

953
00:36:05,280 --> 00:36:09,080
MUTATION IN GHANA REST ON A

954
00:36:09,080 --> 00:36:09,680
COMPLETELY DIFFERENT HAPLOTYPE

955
00:36:09,680 --> 00:36:12,800
THAN THE 1 FOUND IN GAP AN.

956
00:36:12,800 --> 00:36:14,640
THE 1 WAS EXPLAINED BY THE AGE

957
00:36:14,640 --> 00:36:18,760
OF 6000 SO IT'S MUCH MORE

958
00:36:18,760 --> 00:36:21,040
YOUNGER AND LETTING US TALK TO

959
00:36:21,040 --> 00:36:25,360
THIS ALREADY, IT WAS FOUND TO BE

960
00:36:25,360 --> 00:36:26,920
AGE 11,000 YEARS AND WHY WOULD

961
00:36:26,920 --> 00:36:29,680
SOMEONE SELECT THIS VARIANT OVER

962
00:36:29,680 --> 00:36:29,960
TIME?

963
00:36:29,960 --> 00:36:32,000
A STUDY IN GHANA SHOWS THAT WHEN

964
00:36:32,000 --> 00:36:34,960
YOU HAVE THAT VARIANT, YOU HAVE

965
00:36:34,960 --> 00:36:37,960
A THICKER AND I KNOW.

966
00:36:37,960 --> 00:36:39,800
AND THE THICKER SKIN PROTECT YOU

967
00:36:39,800 --> 00:36:42,840
AGAINST THE MOSQUITO BITE OF

968
00:36:42,840 --> 00:36:45,000
MALARIA, WE DON'T YET KNOW AND

969
00:36:45,000 --> 00:36:47,200
THIS DATA WAS CONFIRMED IN

970
00:36:47,200 --> 00:36:50,600
POPULATION, WITH AMERICAN

971
00:36:50,600 --> 00:36:52,640
ANCESTRY, WE'VE HAD AT THAT

972
00:36:52,640 --> 00:36:53,080
VARIANT.

973
00:36:53,080 --> 00:36:55,520
THIS DATA WE PERFORM IN SIN GAL,

974
00:36:55,520 --> 00:36:58,760
IN SIN GAL WE FOUNDEUR SECOND

975
00:36:58,760 --> 00:36:59,920
RECEPTION, YOU'RE A MUTATION

976
00:36:59,920 --> 00:37:03,800
THAT EXPLAIN 25% OF HEARING

977
00:37:03,800 --> 00:37:05,760
IMPAIRMENT, CONGENITAL HEARING

978
00:37:05,760 --> 00:37:07,840
IMPARTMENT IN SENG GAL, AND WE

979
00:37:07,840 --> 00:37:09,160
ALSO FOUND A [INDISCERNIBLE]

980
00:37:09,160 --> 00:37:09,480
MUTATION.

981
00:37:09,480 --> 00:37:11,080
I AM SHOWING THE MAP OF AFRICA

982
00:37:11,080 --> 00:37:15,240
TO SHOW THAT GHANA AND SENEGALL

983
00:37:15,240 --> 00:37:16,720
DO NOT SHARE A BORDER.

984
00:37:16,720 --> 00:37:19,640
A THERE IS NO DOCUMENTITATION IN

985
00:37:19,640 --> 00:37:22,760
[INDISCERNIBLE], AND MA ALI

986
00:37:22,760 --> 00:37:25,760
SHARE DATA, CAN THERE IS NO GDB

987
00:37:25,760 --> 00:37:27,440
2, HOW IS IT WE HAVE THAT

988
00:37:27,440 --> 00:37:29,840
MUTATION THAT WE ALL THOSE AND

989
00:37:29,840 --> 00:37:34,320
END UP IN GHANA, IN SENEGAL, WE

990
00:37:34,320 --> 00:37:35,800
THINK IT'S HAPPENING THROUGH

991
00:37:35,800 --> 00:37:36,240
TRAIT.

992
00:37:36,240 --> 00:37:38,040
BECAUSE IT WAS ASSEMBLED IN

993
00:37:38,040 --> 00:37:39,360
[INDISCERNIBLE] AND THEN FROM

994
00:37:39,360 --> 00:37:40,320
[INDISCERNIBLE] SHIPPED TO

995
00:37:40,320 --> 00:37:43,880
AMERICA AND ACTUALLY THOSE 2

996
00:37:43,880 --> 00:37:45,160
MUTATION, AND THE MUTATION IN

997
00:37:45,160 --> 00:37:50,400
WHAT WE CALL THE GHANALISE

998
00:37:50,400 --> 00:37:51,920
MUTATION IS AMONG AFRICAN

999
00:37:51,920 --> 00:37:52,480
AMERICAN.

1000
00:37:52,480 --> 00:37:54,040
AND 1 FELLOW IS TRYING TO PROVE

1001
00:37:54,040 --> 00:37:55,560
THE MOLECULAR, AND THE WAY WE

1002
00:37:55,560 --> 00:37:58,120
WILL PROVE IT IS TO SHOW THAT

1003
00:37:58,120 --> 00:38:00,680
THE VARIANT FOUND--THE VARIANT

1004
00:38:00,680 --> 00:38:03,640
RESTS ON THE SAME HAPLOTYPE, IT

1005
00:38:03,640 --> 00:38:06,080
WAS THE EXACT SAME STUDY TO

1006
00:38:06,080 --> 00:38:11,120
INVESTIGATE THE AGE OF THE

1007
00:38:11,120 --> 00:38:14,200
SEN EGALESE VARIANT.

1008
00:38:14,200 --> 00:38:16,000
SO VERY FEW COUNTRY INVESTIGATED

1009
00:38:16,000 --> 00:38:17,760
HEARING IMPAIRMENT AT A

1010
00:38:17,760 --> 00:38:20,880
MOLECULAR LEVEL, USING FOR

1011
00:38:20,880 --> 00:38:21,840
EXAMPLE, WHOLE XOHM SEQUENCING

1012
00:38:21,840 --> 00:38:23,520
OUT OF 54 AFRICAN COUNTRY.

1013
00:38:23,520 --> 00:38:26,760
THAT MEANS WE STILL HAVE A LOT

1014
00:38:26,760 --> 00:38:33,080
TO DISCOVER EENL FOR THIS

1015
00:38:33,080 --> 00:38:34,480
CONDITION IN AFFRIC ABECAUSE IF

1016
00:38:34,480 --> 00:38:37,160
YOU USE THIS, YOU USE HUNDREDS

1017
00:38:37,160 --> 00:38:40,840
OF HEARING IMPAIRMENT, THAT MOST

1018
00:38:40,840 --> 00:38:42,560
PEOPLE WITH AFRICAN ANCESTRY IS

1019
00:38:42,560 --> 00:38:44,320
LOW, THAT MEANS ARE NOT LOOKING

1020
00:38:44,320 --> 00:38:47,200
AT THE RIGHT JEEPS, THAT MEANS

1021
00:38:47,200 --> 00:38:48,760
THERE ARE MORE GENES TO BE FOUND

1022
00:38:48,760 --> 00:38:51,120
WHERE THE RATE WILL BE 26%

1023
00:38:51,120 --> 00:38:54,200
COMPARED TO 70% OF AMERICAN

1024
00:38:54,200 --> 00:38:55,840
MIDDLE EASTERN ANCESTRY AND IF

1025
00:38:55,840 --> 00:38:59,440
YOU LOOK AT THE A TRANSCRIPT OF

1026
00:38:59,440 --> 00:39:00,640
THEINER EAR MANY PEOPLE THINK WE

1027
00:39:00,640 --> 00:39:02,840
HAVE AT LEAST THOUSANDS HEARING

1028
00:39:02,840 --> 00:39:03,800
IMPAIRMENT GENES TO DISCOVER AND

1029
00:39:03,800 --> 00:39:05,840
I WILL ARGUE THAT THE RIGHT WAY

1030
00:39:05,840 --> 00:39:10,720
TO DISCOVER THEM IS IN AFRICA.

1031
00:39:10,720 --> 00:39:13,680
THE REASON OF MOST DISCOVERY FOR

1032
00:39:13,680 --> 00:39:16,760
HRGZ IMPARTMENT WAS DONE IN

1033
00:39:16,760 --> 00:39:18,120
PAKISTAN WHERE 14 PEOPLE WERE

1034
00:39:18,120 --> 00:39:20,560
DISCOVERED BECAUSE OF THE

1035
00:39:20,560 --> 00:39:22,160
CONSANGUINITY AND IN AFRICA

1036
00:39:22,160 --> 00:39:24,160
BECAUSE OF THE DIVERSITY SHOWN

1037
00:39:24,160 --> 00:39:26,360
BY NUMEROUS STUDY, WE SAMPLE A

1038
00:39:26,360 --> 00:39:28,840
LOT OF FAMILY, AT LEAST 2

1039
00:39:28,840 --> 00:39:30,240
CHILDREN THAT WERE BORN WITH

1040
00:39:30,240 --> 00:39:31,200
HEARING IMPAIRMENT AND

1041
00:39:31,200 --> 00:39:35,560
INVESTIGATED USING WHOLE EXOHM

1042
00:39:35,560 --> 00:39:37,160
SEQUENCING THE REGION OF THOSE

1043
00:39:37,160 --> 00:39:38,240
HEARING IMPAIRMENT OF COURSE WE

1044
00:39:38,240 --> 00:39:40,440
STARTED BY THOSE DOSE REGIMEN

1045
00:39:40,440 --> 00:39:42,320
AND THAT WAS FOUND ONLY IN 1

1046
00:39:42,320 --> 00:39:45,280
FAMILY, FOR EXAMPLE,

1047
00:39:45,280 --> 00:39:46,320
[INDISCERNIBLE] 5 AND FOUND A

1048
00:39:46,320 --> 00:39:47,640
SECOND FAMILY IN AFRICA WHICH

1049
00:39:47,640 --> 00:39:50,880
MEANS THAT WE CONTRIBUTED TO

1050
00:39:50,880 --> 00:39:52,400
[INDISCERNIBLE] CONFIRMING THOSE

1051
00:39:52,400 --> 00:39:52,720
GENE.

1052
00:39:52,720 --> 00:39:54,080
THIS OTHER EXAMPLE ON 1 FAMILY

1053
00:39:54,080 --> 00:39:57,560
THAT INITIALLY WAS DESCRIBED,

1054
00:39:57,560 --> 00:39:58,640
THE FIRST FAMILY WAS DESCRIBED

1055
00:39:58,640 --> 00:40:01,880
IN AMERICA ONLY 15 YEARS AGO,

1056
00:40:01,880 --> 00:40:04,600
AND THE SECOND FAMILY FOUND IN

1057
00:40:04,600 --> 00:40:05,400
SOUTH AFROMMICCA MAKE A RACE, 1

1058
00:40:05,400 --> 00:40:08,080
OF THE HEARING IMPAIRMENT

1059
00:40:08,080 --> 00:40:08,720
JEERNS.

1060
00:40:08,720 --> 00:40:10,800
AND WE ARE ALSO TAKE THE

1061
00:40:10,800 --> 00:40:12,160
OPPORTUNITY TO INVESTIGATE IN

1062
00:40:12,160 --> 00:40:16,160
NEW GENES AND NEEZ ARE DATA FROM

1063
00:40:16,160 --> 00:40:19,520
GHANA AND IN GHANA WE FOUND 7

1064
00:40:19,520 --> 00:40:20,920
CANDIDATE NUMBER OF GENE FOR

1065
00:40:20,920 --> 00:40:23,280
HEARING IMPAIRMENT, SOME OF

1066
00:40:23,280 --> 00:40:25,200
THOSE WAS--I LEARNED SOMETHING

1067
00:40:25,200 --> 00:40:26,880
HERE, IT WAS OBVIOUS FOR

1068
00:40:26,880 --> 00:40:29,840
EXAMPLE, IN THIS FAMILY, SMALL

1069
00:40:29,840 --> 00:40:32,360
FAMILY, WITH THE VANNEDDEN BERG

1070
00:40:32,360 --> 00:40:33,560
SYNDROME, THERE WAS A MUTATION

1071
00:40:33,560 --> 00:40:35,600
THAT LIES ON THE VERTICAL

1072
00:40:35,600 --> 00:40:39,000
[INDISCERNIBLE] AND THERE IS A P

1073
00:40:39,000 --> 00:40:40,960
A XATOX 8 NEGATIVE MICE AND THE

1074
00:40:40,960 --> 00:40:46,280
P A XATOX 8 P A X 8 NEGATIVE

1075
00:40:46,280 --> 00:40:51,520
MICE AND DEAF.

1076
00:40:51,520 --> 00:40:53,520
ANOTHER SMALL FAMILY IN GHANA,

1077
00:40:53,520 --> 00:40:56,880
WE FOUND MUTATION IN

1078
00:40:56,880 --> 00:41:00,200
[INDISCERNIBLE], WE FOUND IS FOR

1079
00:41:00,200 --> 00:41:03,240
KOSOX 9S WHO HAVE MALFORMATION

1080
00:41:03,240 --> 00:41:03,960
OF THEINER EAR.

1081
00:41:03,960 --> 00:41:07,440
THE OTHER GENES WE ARE CURRENTLY

1082
00:41:07,440 --> 00:41:08,520
DEVELOPING FOR MICE MODEL TO

1083
00:41:08,520 --> 00:41:12,520
SHOW THE IMPLICATION OF HEARING

1084
00:41:12,520 --> 00:41:14,360
IMPAIRMENT OF THE ORIGIN WE ARE

1085
00:41:14,360 --> 00:41:15,640
DESCRIBING I CAN TELL YOU WE

1086
00:41:15,640 --> 00:41:22,720
HAVE THE SAME NUMBER IN CAME

1087
00:41:22,720 --> 00:41:24,120
ROON, THAT WE WERE NOT

1088
00:41:24,120 --> 00:41:24,400
EXPECTING.

1089
00:41:24,400 --> 00:41:26,880
WE TOOK THE RANDOM APPROACH OF

1090
00:41:26,880 --> 00:41:28,440
EXPLORING GENES THAT WE KNOW ARE

1091
00:41:28,440 --> 00:41:29,640
IMPAIRMENT IN THE SAME COUNTRY

1092
00:41:29,640 --> 00:41:30,840
PATIENT VERSUS CONTROL.

1093
00:41:30,840 --> 00:41:32,640
IN PRINCIPLE IF YOU ASSUME THIS

1094
00:41:32,640 --> 00:41:35,080
IS A SINGLE GENE DISORDER YOU

1095
00:41:35,080 --> 00:41:37,920
HAVEN'T SEE A MAJOR DIFFERENCE

1096
00:41:37,920 --> 00:41:39,520
IN THOSE GENES, PATIENTS CONTROL

1097
00:41:39,520 --> 00:41:41,840
BUT IT WAS NOT THE CASE IN THIS

1098
00:41:41,840 --> 00:41:42,080
STUDY.

1099
00:41:42,080 --> 00:41:45,640
WE FOUND THAT DERIVED THE

1100
00:41:45,640 --> 00:41:47,520
ANCESTRAL ALLELE IN THE HEARING

1101
00:41:47,520 --> 00:41:48,440
IMPAIRMENT WAS DIFFERENT,

1102
00:41:48,440 --> 00:41:50,520
PATIENT VERSUS CONTROL,

1103
00:41:50,520 --> 00:41:52,320
SUGGESTING AT LEAST 3 THINGS,

1104
00:41:52,320 --> 00:41:53,960
FIRST IS THAT ANYTIME YOU HAVE A

1105
00:41:53,960 --> 00:41:55,600
SINGLE GENE, MAYBE IN THE ORDER

1106
00:41:55,600 --> 00:41:57,680
OF THE HEARING IMPAIRMENT GENES

1107
00:41:57,680 --> 00:42:00,920
ARE MODIFIERS, THE POSSIBILITIES

1108
00:42:00,920 --> 00:42:02,120
THAT MAY BE THERE IS A GOOD

1109
00:42:02,120 --> 00:42:04,920
REASON WHY SOME OF THOSE GENES

1110
00:42:04,920 --> 00:42:06,760
WERE SELECTED OVEREVOLUTION, WE

1111
00:42:06,760 --> 00:42:08,080
DON'T KNOW WHY AND THE THIRD

1112
00:42:08,080 --> 00:42:10,000
POSSIBILITY IS THAT BY

1113
00:42:10,000 --> 00:42:13,160
INVESTIGATING HEARING IMPAIRMENT

1114
00:42:13,160 --> 00:42:15,360
JEERNS WE MADE FIGURE OUT WHY IF

1115
00:42:15,360 --> 00:42:17,200
A HUMAN SPEAKS AND IF HE DOES

1116
00:42:17,200 --> 00:42:18,240
SPEAK YOU MAY NOT HEAR.

1117
00:42:18,240 --> 00:42:22,520
AND THEY'RE INVITING US TO WORK

1118
00:42:22,520 --> 00:42:23,920
ON THE STUDY, THE JOURNAL LIKE

1119
00:42:23,920 --> 00:42:26,280
IT SO MUCH THAT THEY MAKE THE

1120
00:42:26,280 --> 00:42:30,000
COVER PE FOR IT.

1121
00:42:30,000 --> 00:42:31,680
SO THIS SMALL EXAMPLE SHOWED 2

1122
00:42:31,680 --> 00:42:35,360
THINGS, THIS IS A SINGLE GENETIC

1123
00:42:35,360 --> 00:42:37,520
DISORDER OF HETEROGENERATED

1124
00:42:37,520 --> 00:42:37,720
AITY.

1125
00:42:37,720 --> 00:42:38,760
FIRST OF ALL VERY FEW PEOPLE

1126
00:42:38,760 --> 00:42:40,960
HAVE BEEN INVESTIGATED FOR THIS

1127
00:42:40,960 --> 00:42:42,080
CONDITION CALLED HEARING

1128
00:42:42,080 --> 00:42:42,720
IMPAIRMENT.

1129
00:42:42,720 --> 00:42:47,280
THE SECOND THERE IS A HIGH USING

1130
00:42:47,280 --> 00:42:47,840
WHOLE EXSTUDIES OF MULTIPLE

1131
00:42:47,840 --> 00:42:49,040
ENDOCRINE SEQUENCING WE CAN

1132
00:42:49,040 --> 00:42:50,960
EXPLAIN MOST FAMILY AT 90%

1133
00:42:50,960 --> 00:42:53,120
RESOLUTION RATE, FOR THOSE

1134
00:42:53,120 --> 00:42:54,880
FAMILY THAT ARE NOT RESOLVED BY

1135
00:42:54,880 --> 00:42:58,320
WHOLE EXOHM SEQUENCING, OUR

1136
00:42:58,320 --> 00:43:01,080
[INDISCERNIBLE] 15%, MOST OF THE

1137
00:43:01,080 --> 00:43:03,880
VARIANT IN NONGENE AND NOVEL

1138
00:43:03,880 --> 00:43:05,360
VARIANT 18% OF THEM HAVE NOT

1139
00:43:05,360 --> 00:43:08,840
BEEN ASSOCIATED EVEN IN NONGENES

1140
00:43:08,840 --> 00:43:10,480
AND THAT MEANS BY USING THOSE

1141
00:43:10,480 --> 00:43:13,920
VARIANT THEY IMPROVE THE DISEASE

1142
00:43:13,920 --> 00:43:17,720
CURATION GLOBALLY.

1143
00:43:17,720 --> 00:43:19,080
OF COURSE BY GENERATING THIS

1144
00:43:19,080 --> 00:43:21,760
DATAY WOO ALL FACE A HUGE

1145
00:43:21,760 --> 00:43:24,160
ETHICAL ISSUE AND 1 OF THEM WILL

1146
00:43:24,160 --> 00:43:26,680
BE THE ACTIONABILITY ON SOME OF

1147
00:43:26,680 --> 00:43:29,600
THOSE ON WHICH 1 TO EXPLORE.

1148
00:43:29,600 --> 00:43:34,200
SOME OF THEM WILL BE SHOULD WE

1149
00:43:34,200 --> 00:43:36,000
EVEN REVERT OR RETURN THE RESULT

1150
00:43:36,000 --> 00:43:39,800
TO THOSE FAMILY THAT WE HAVE

1151
00:43:39,800 --> 00:43:41,200
INVESTIGATED, OR THAT THEY EVEN

1152
00:43:41,200 --> 00:43:43,520
RETURN THE RESULT, WOULD THERE

1153
00:43:43,520 --> 00:43:45,160
BE ANY PRACTICAL IMPLICATION IN

1154
00:43:45,160 --> 00:43:47,000
TERMS OF CARE FOR THOSE FAMILY,

1155
00:43:47,000 --> 00:43:49,560
ARE WE NOT CREATING ADDITIONAL

1156
00:43:49,560 --> 00:43:50,440
PROBLEM.

1157
00:43:50,440 --> 00:43:52,040
THIS IS SOME OF THE QUESTION WE

1158
00:43:52,040 --> 00:43:53,680
ARE INVESTIGATING, 1 OF OUR

1159
00:43:53,680 --> 00:44:00,040
PROJECT CALL CALL [INDISCERNIBLD

1160
00:44:00,040 --> 00:44:02,400
THAT CALL WHAT WE SHOULD RETURN

1161
00:44:02,400 --> 00:44:03,600
IN AFRICA AND WHAT IS THE

1162
00:44:03,600 --> 00:44:05,160
PROCESS OF RETURNING THE RESULT

1163
00:44:05,160 --> 00:44:08,080
IF WE USE NEXT GENERATION

1164
00:44:08,080 --> 00:44:08,920
SEQUENCING TO INVESTIGATE

1165
00:44:08,920 --> 00:44:10,880
FAMILIES THIS IS 1 OF A MEETING

1166
00:44:10,880 --> 00:44:13,160
WE CONVENE IN TUNISIA TO EXPLORE

1167
00:44:13,160 --> 00:44:17,160
SOME OF THOSE QUESTIONS IN 2019.

1168
00:44:17,160 --> 00:44:18,840
WE HOPE THAT THE DATA WE ARE

1169
00:44:18,840 --> 00:44:20,560
GENERATING FOR EXAMPLE, FOR

1170
00:44:20,560 --> 00:44:23,720
GENOME OR EXOHM, WOULD ALLOW

1171
00:44:23,720 --> 00:44:25,160
BETTER REPRESENTATION ON THE

1172
00:44:25,160 --> 00:44:26,640
DATABASE IN THE LITERATURE AND

1173
00:44:26,640 --> 00:44:29,840
THIS WOULD IMPROVE OUR DISEASE

1174
00:44:29,840 --> 00:44:32,320
CURATION FOR ANYONE ELSE.

1175
00:44:32,320 --> 00:44:34,160
THESE IS ANOTHER EXAMPLE WHY WE

1176
00:44:34,160 --> 00:44:37,240
SHOULD IMPROVE THE DATABASE.

1177
00:44:37,240 --> 00:44:39,720
THAT WAS A VARIANT FOR

1178
00:44:39,720 --> 00:44:41,680
CARDIOMYOPATHY THAT WAS LABELED

1179
00:44:41,680 --> 00:44:42,320
PATHOGENIC JUST BECAUSE THERE

1180
00:44:42,320 --> 00:44:44,480
WAS NOT ENOUGH AFRICAN IN THE

1181
00:44:44,480 --> 00:44:46,880
DATABASE AND THAT VARIANT WAS

1182
00:44:46,880 --> 00:44:50,240
PRESENT IN 30% OF PEOPLE WITH

1183
00:44:50,240 --> 00:44:51,320
AFRICAN ANCESTRY AND THE

1184
00:44:51,320 --> 00:44:52,840
SIMULATION SHOWS THAT IF WE

1185
00:44:52,840 --> 00:44:55,760
INCLUDE ONLY 50 PEOPLE IN THE

1186
00:44:55,760 --> 00:44:57,000
DATABASE, THIS STATISTIC WOULD

1187
00:44:57,000 --> 00:44:57,880
NOT HAVE HAPPENED.

1188
00:44:57,880 --> 00:45:02,520
IT MEANS THAT THIS BEAUTIFUL

1189
00:45:02,520 --> 00:45:04,480
[INDISCERNIBLE] PROPOSED BY

1190
00:45:04,480 --> 00:45:05,600
DR. COLLINS WITH GENOMIC

1191
00:45:05,600 --> 00:45:07,560
MEDICINE RESTINGOT HUMAN GENOME

1192
00:45:07,560 --> 00:45:10,440
PROJECT HAVE A FEW CRAFTS IN THE

1193
00:45:10,440 --> 00:45:12,480
FOUNDATION, THE MISSING VARIANT

1194
00:45:12,480 --> 00:45:14,040
IN THE FIRST GENOME OF THE

1195
00:45:14,040 --> 00:45:16,720
OLDEST POPULATION, POPULATION

1196
00:45:16,720 --> 00:45:18,800
WITH AFRICAN ANCESTRY.

1197
00:45:18,800 --> 00:45:19,960
I PROPOSED LAST YEAR THAT WE

1198
00:45:19,960 --> 00:45:21,560
NEED TO ADDRESS THIS QUESTION,

1199
00:45:21,560 --> 00:45:25,720
WE NEED TO SEQUENCE AT LEAST

1200
00:45:25,720 --> 00:45:27,640
[INDISCERNIBLE] FROM THE

1201
00:45:27,640 --> 00:45:28,440
AFRICAN.

1202
00:45:28,440 --> 00:45:32,080
INITIALLY THIS PROJECT IDEA WAS

1203
00:45:32,080 --> 00:45:34,160
A CRAZY IDEA THAT HOPEFULLY WE

1204
00:45:34,160 --> 00:45:36,200
FOUND A LOT OF ATTENTION ACROSS

1205
00:45:36,200 --> 00:45:39,600
NUMEROUS OFFICES AND MAYBE,

1206
00:45:39,600 --> 00:45:42,520
MAYBE ONLY NEXT YEAR INVASION OF

1207
00:45:42,520 --> 00:45:45,640
THIS PROJECT WILL SEE LIGHT.

1208
00:45:45,640 --> 00:45:46,880
WE BELIEVE THAT WEIGH WANT TO

1209
00:45:46,880 --> 00:45:49,360
MAKE GENETIC MEDICINE TRULY

1210
00:45:49,360 --> 00:45:51,360
EQUITABLE, WE NEED TO HAVE

1211
00:45:51,360 --> 00:45:53,360
REPRESENTATION OF A WIDE GENOME

1212
00:45:53,360 --> 00:45:55,600
AND WE NEED TO START WITH OUR

1213
00:45:55,600 --> 00:45:58,120
COMMON ANCESTRAL GENOME, A

1214
00:45:58,120 --> 00:46:00,080
GENOME OF POPULATION OF AFRICAN

1215
00:46:00,080 --> 00:46:00,480
ANCESTRY.

1216
00:46:00,480 --> 00:46:02,760
ONLY WE DO THAT AT SCALE, IF WE

1217
00:46:02,760 --> 00:46:05,400
DO THAT GENETICS WILL MAKE

1218
00:46:05,400 --> 00:46:07,160
MEDICINE TRULY EQUITABLE,'M

1219
00:46:07,160 --> 00:46:07,800
PROVE SCIENTIFIC KNOWLEDGE FOR

1220
00:46:07,800 --> 00:46:10,120
ALL OF US BUT ALSO ADDRESS

1221
00:46:10,120 --> 00:46:13,800
EQUITY OFAC SESES FOR ALL

1222
00:46:13,800 --> 00:46:14,240
POPULATION.

1223
00:46:14,240 --> 00:46:15,760
THIS IS A GAME I WOULD LIKE TO

1224
00:46:15,760 --> 00:46:16,000
PLAY.

1225
00:46:16,000 --> 00:46:18,800
THIS IS MY PLEA FOR THE YOUNGEST

1226
00:46:18,800 --> 00:46:19,800
OF US IN THE ROOM.

1227
00:46:19,800 --> 00:46:21,520
THIS IS MY HOPE AND ASPIRATION

1228
00:46:21,520 --> 00:46:23,680
FOR THE NEXT 10 YEARS, MY

1229
00:46:23,680 --> 00:46:26,360
CAREER, THE 2030, MAYBE 40 YEARS

1230
00:46:26,360 --> 00:46:28,240
IS I'M STILL AROUND AND THIS IS

1231
00:46:28,240 --> 00:46:30,280
MY INVITATION FOR YOU TO JOIN US

1232
00:46:30,280 --> 00:46:32,320
IN THIS JOURNEY OF EXPLORING OUR

1233
00:46:32,320 --> 00:46:35,640
COMMON GENOME FOR POPULATION OF

1234
00:46:35,640 --> 00:46:38,720
ANCESTRY, THIS IS THE REASON

1235
00:46:38,720 --> 00:46:41,400
MANY FUNDERS, I WOULD LIKE TO

1236
00:46:41,400 --> 00:46:42,560
ACKNOWLEDGE HERE HELPED SUPPORT

1237
00:46:42,560 --> 00:46:44,400
THE WORK THAT I'M PRESENTING

1238
00:46:44,400 --> 00:46:47,840
TODAY AND I'M THANK YOU FOR YOUR

1239
00:46:47,840 --> 00:46:49,440
KIND ATTENTION.

1240
00:46:49,440 --> 00:46:58,200
[ APPLAUSE ]

1241
00:46:58,200 --> 00:47:01,040
>>THE H3 AFRICA HAS BROUGHT

1242
00:47:01,040 --> 00:47:03,280
CONTRAST TO THE ACCESSIBILITY OF

1243
00:47:03,280 --> 00:47:06,040
NIH AND BRIT O BIOBANK HAVE

1244
00:47:06,040 --> 00:47:08,200
ACCESS TO H3 AFRICA SEEMS TO BE

1245
00:47:08,200 --> 00:47:10,080
THE SUBJECT TO THE GATE KEEPING

1246
00:47:10,080 --> 00:47:12,840
OF THE PROJECTS PIs, WHO FIRST

1247
00:47:12,840 --> 00:47:16,000
WANT TO MINE THE DATA FOR THEIR

1248
00:47:16,000 --> 00:47:17,120
PUBLICATIONS, DO YOU HAVE

1249
00:47:17,120 --> 00:47:27,400
COMMENT ON THAT?

1250
00:47:32,240 --> 00:47:33,160
WONDZERING ABOUT THIS AND HOW

1251
00:47:33,160 --> 00:47:35,320
YOU SEE THE FUTURE?

1252
00:47:35,320 --> 00:47:36,280
>> YEAH, FIRST I WOULD
LIKE TO

1253
00:47:36,280 --> 00:47:38,000
THANK THE COLLEAGUE THAT ASKED

1254
00:47:38,000 --> 00:47:41,400
THE QUESTION FOR HIS POSITIVE

1255
00:47:41,400 --> 00:47:41,960
COMMENT.

1256
00:47:41,960 --> 00:47:44,280
THE SECOND, THE H3 AFRICA DID

1257
00:47:44,280 --> 00:47:45,880
THAT DEFINITELY AT THE IGA,AC

1258
00:47:45,880 --> 00:47:47,320
SESESSIBLE SO THE COMMENT THAT

1259
00:47:47,320 --> 00:47:50,240
THERE IS A GATE KEEPING IS NOT

1260
00:47:50,240 --> 00:47:50,640
FULLY TRUE.

1261
00:47:50,640 --> 00:47:54,600
THE SECOND IS THAT THEY HAVE

1262
00:47:54,600 --> 00:47:56,760
BEEN IN AFRICA A DEVELOPMENT

1263
00:47:56,760 --> 00:47:59,320
PROCESS THAT WAS GIVEN TO A

1264
00:47:59,320 --> 00:48:00,240
INVESTIGATOR TO FIRST EXPLORE

1265
00:48:00,240 --> 00:48:02,800
THAT DATA, THE DATA WAS

1266
00:48:02,800 --> 00:48:04,320
EXCEPTIONALLY LONG, 24 MONTHS

1267
00:48:04,320 --> 00:48:06,480
BUT I WOULD LIKE PEOPLE TO PUT

1268
00:48:06,480 --> 00:48:07,080
THIS INTO CONTEXT.

1269
00:48:07,080 --> 00:48:08,680
IF YOU ARE WORKING IN AFRICA AND

1270
00:48:08,680 --> 00:48:11,320
I WORK IN A46A FOR THE PAST

1271
00:48:11,320 --> 00:48:12,800
15IERS IF YOU HAVE EXOHM DATA

1272
00:48:12,800 --> 00:48:14,680
YOU HAVE TO SEQUENCE OUT OF

1273
00:48:14,680 --> 00:48:15,880
AFRICA, JUST THE TRANSFER OF

1274
00:48:15,880 --> 00:48:17,280
THOSE DATA FROM THE CORE

1275
00:48:17,280 --> 00:48:19,120
FACILITY WHERE YOU SEE IT TAKES

1276
00:48:19,120 --> 00:48:20,800
MANY DAYS AND SOMETIMES HAVE YOU

1277
00:48:20,800 --> 00:48:22,160
ELECTRICITY THAT ARE CUT AND

1278
00:48:22,160 --> 00:48:23,920
THAT DELAY YOUR DATA.

1279
00:48:23,920 --> 00:48:25,600
IF YOU WANT TO ANALYZE DATA YOU

1280
00:48:25,600 --> 00:48:29,760
NEED TO HAVE AN ARMY OF

1281
00:48:29,760 --> 00:48:30,960
BIOINFORMAT CYSTS THAT ALLOW YOU

1282
00:48:30,960 --> 00:48:33,320
TO DO SO, YOU HAVE TO HAVE THE

1283
00:48:33,320 --> 00:48:35,760
ARMY OF BIOINFORM AT CYSTS.

1284
00:48:35,760 --> 00:48:41,000
THAT MEANS YOU ARE COMPETITIVELY

1285
00:48:41,000 --> 00:48:42,440
DISADVANTAGED AGAIN ANYONE ELSE,

1286
00:48:42,440 --> 00:48:43,720
FOR EXAMPLE LIKE THE ARMY OF

1287
00:48:43,720 --> 00:48:45,600
POST DOCS IN THIS ROOM, SO 1

1288
00:48:45,600 --> 00:48:47,680
IDEA OF GIVING 24 MONTHS

1289
00:48:47,680 --> 00:48:48,840
LEVERAGE WAS TO ALLOW

1290
00:48:48,840 --> 00:48:50,080
INVESTIGATORS TO HAVE A CHANCE

1291
00:48:50,080 --> 00:48:53,920
TO EXPLORE THOSE DATA, TAKING BO

1292
00:48:53,920 --> 00:48:55,320
ACCOUNT THE BEHAVIOR OF

1293
00:48:55,320 --> 00:48:56,880
INTERNATIONAL SCIENCES THAT HAVE

1294
00:48:56,880 --> 00:48:58,400
PERFORMED IN THE RESEARCH FOR

1295
00:48:58,400 --> 00:48:59,840
THE PAST 20 YEARS IN AFRICA AND

1296
00:48:59,840 --> 00:49:02,480
TAKING INTO ACCOUNT THE LACK OF

1297
00:49:02,480 --> 00:49:03,440
INFRASTRUCTURE AND HUMAN POWER

1298
00:49:03,440 --> 00:49:05,440
THAT MAY HAVE ALLOWED

1299
00:49:05,440 --> 00:49:07,400
INVESTIGATOR ACTUALLY TO HAVE

1300
00:49:07,400 --> 00:49:08,480
ACCESS ON THE KNOWLEDGE THEY

1301
00:49:08,480 --> 00:49:11,520
HAVE GENERATED AND ANYONE THAT

1302
00:49:11,520 --> 00:49:14,480
CANNOT TAKE THAT TO AN ACCOUNT

1303
00:49:14,480 --> 00:49:16,680
WILL BE MISGUIDED EMPLOY BUT I

1304
00:49:16,680 --> 00:49:18,360
MUST SAY THOSE DATA DEFINITELY

1305
00:49:18,360 --> 00:49:20,240
ARE AVAILABLE AND WE ARE MUCH,

1306
00:49:20,240 --> 00:49:21,120
MUCH ENCOURAGING THAT ALL THE

1307
00:49:21,120 --> 00:49:22,280
DAILY BASIS AT THAT WE GENERATE

1308
00:49:22,280 --> 00:49:25,360
IN THE PUBLIC DATABASE.

1309
00:49:25,360 --> 00:49:26,240
>> GREAT PERSPECTIVE FROM

1310
00:49:26,240 --> 00:49:30,560
SOMEONE WHO CLEARLY KNOWS IT SO

1311
00:49:30,560 --> 00:49:30,880
WELL.

1312
00:49:30,880 --> 00:49:34,480
ANY QUESTIONS FROM THE--

1313
00:49:34,480 --> 00:49:35,440
>> THANK AND YOU GOOD
AFTERNOON.

1314
00:49:35,440 --> 00:49:37,040
THANK YOU FOR SUCH A WONDERFUL

1315
00:49:37,040 --> 00:49:38,760
LECTURE AND EDUCATING US ON THIS

1316
00:49:38,760 --> 00:49:39,920
TOPIC, MY QUESTION IS 2 PARTS

1317
00:49:39,920 --> 00:49:44,240
AND YOU SOMEWHAT ENDED ON A

1318
00:49:44,240 --> 00:49:45,560
COMPONENT OF MY QUESTION BUT I

1319
00:49:45,560 --> 00:49:47,960
WANTED TO ASK, EARLY IN THE

1320
00:49:47,960 --> 00:49:51,160
LECTURE YOU REFERENCED EXISTENCE

1321
00:49:51,160 --> 00:49:55,240
OF 3.4 MILLION SMBs AND I

1322
00:49:55,240 --> 00:50:00,120
WANTED TO ASK YOU IN THE YET

1323
00:50:00,120 --> 00:50:02,160
REQUIRED DESCRIPTION COULD BE

1324
00:50:02,160 --> 00:50:05,480
HARNESSED TO ELUCIDATE

1325
00:50:05,480 --> 00:50:06,560
UNKNOWNIARYS OF THE GENOME HOW

1326
00:50:06,560 --> 00:50:08,200
DO RESEARCHERS APPROACH A TASK

1327
00:50:08,200 --> 00:50:10,320
THAT APPEAR SO VAST AND FROM

1328
00:50:10,320 --> 00:50:11,520
THERE, IS EQUITY IN THE

1329
00:50:11,520 --> 00:50:13,280
QUESTIONS ASKED IN THE OUTCOMES

1330
00:50:13,280 --> 00:50:15,000
OF THAT RESEARCH IN SHORT?

1331
00:50:15,000 --> 00:50:16,480
>> CAN YOU--CAN YOU REPEAT
THE

1332
00:50:16,480 --> 00:50:17,800
LAST PART OF THE QUESTION,

1333
00:50:17,800 --> 00:50:18,520
PLEASE?

1334
00:50:18,520 --> 00:50:19,840
>> YEAH, HOW SHOULD
RESEARCHERS

1335
00:50:19,840 --> 00:50:21,960
APPROACH A TASK THAT APPEARS SO

1336
00:50:21,960 --> 00:50:22,240
VAST?

1337
00:50:22,240 --> 00:50:25,040
AND HOW CAN EQUITY IN THE

1338
00:50:25,040 --> 00:50:26,240
RESEARCH PURSUED AND THE

1339
00:50:26,240 --> 00:50:31,040
BENEFITS OF THAT RESEARCH BE

1340
00:50:31,040 --> 00:50:34,560
INSURED?

1341
00:50:34,560 --> 00:50:37,800
>> YEAH, LET ME RELATE TO
THE

1342
00:50:37,800 --> 00:50:38,240
QUESTION.

1343
00:50:38,240 --> 00:50:41,880
MAYBE I START TO SPEAK TO A

1344
00:50:41,880 --> 00:50:43,760
CONFERENCE THAT WAS GIVEN BY A

1345
00:50:43,760 --> 00:50:45,960
VERY FAMOUS WRITER FROM NIGERIA,

1346
00:50:45,960 --> 00:50:50,200
HER NAME IS [INDISCERNIBLE], SHE

1347
00:50:50,200 --> 00:50:51,400
HAS A VERY FAME HOUSE TED

1348
00:50:51,400 --> 00:50:53,360
CONFERENCE THAT SHE CALLED THE

1349
00:50:53,360 --> 00:50:55,240
DANGER OF THE SINGLE STORY.

1350
00:50:55,240 --> 00:50:58,120
AND IN SUMMARY, WHAT SHE SAYS IS

1351
00:50:58,120 --> 00:50:59,880
THAT THE SINGLE STORY IS NOT

1352
00:50:59,880 --> 00:51:01,680
NATHE STORY IS NOT UNTRUE, IT'S

1353
00:51:01,680 --> 00:51:03,960
JUST THE STORY IS NOT COMPLETE.

1354
00:51:03,960 --> 00:51:05,880
WHAT YOU ARE TRYING TO SAY IS

1355
00:51:05,880 --> 00:51:08,600
THAT WE HAVE IN THE DATABASE AND

1356
00:51:08,600 --> 00:51:09,920
UNTRUE, NO AND EVERYTHING IS

1357
00:51:09,920 --> 00:51:11,240
CORRECT AND ANYTHING CAN BE USED

1358
00:51:11,240 --> 00:51:12,920
FOR POPULATION MOSTLY BUT

1359
00:51:12,920 --> 00:51:15,360
THEY'RE NOT COMPLETE, THAT MEANS

1360
00:51:15,360 --> 00:51:16,760
THAT HALF OF THE STORY CANNOT BE

1361
00:51:16,760 --> 00:51:19,160
TOLD SO THAT MEANS THAT FOR SOME

1362
00:51:19,160 --> 00:51:20,400
POPULATION THAT WE HAVE,

1363
00:51:20,400 --> 00:51:21,600
PROBABLY NEED TO ADDRESS THE

1364
00:51:21,600 --> 00:51:24,800
QUESTION OF EQUITY, INCREASED

1365
00:51:24,800 --> 00:51:25,920
THE REPRESENTATIVITY ON

1366
00:51:25,920 --> 00:51:27,200
VARIATION, FOR THE QUESTION OF

1367
00:51:27,200 --> 00:51:29,480
EQUITY WE SHOULD EXTEND NOT ONLY

1368
00:51:29,480 --> 00:51:30,800
TO THE REPRESENTATIVE VARIATION

1369
00:51:30,800 --> 00:51:32,160
BUT ALSO TO THE REPRESENTATIVE

1370
00:51:32,160 --> 00:51:35,480
OF THOSE THAT INVESTIGATE THOSE

1371
00:51:35,480 --> 00:51:35,800
VARIATION.

1372
00:51:35,800 --> 00:51:38,720
I DO THINK THE WORKFORCE NEEDS

1373
00:51:38,720 --> 00:51:43,960
ALSO TO BE FROM OUR PART OF THE

1374
00:51:43,960 --> 00:51:45,520
WORLD, BECAUSE THERE'S SOME

1375
00:51:45,520 --> 00:51:46,880
QUESTION YOU CAN ONLY ADDRESS

1376
00:51:46,880 --> 00:51:48,360
BECAUSE HAVE YOU A SPECIFIC

1377
00:51:48,360 --> 00:51:48,840
LIVING EXPERIENCE.

1378
00:51:48,840 --> 00:51:52,160
I MET WITH A COUPLE OF STUDENTS

1379
00:51:52,160 --> 00:51:55,760
POST DOC STUDENTS BEFORE AND 1

1380
00:51:55,760 --> 00:51:57,200
OF THEM ASK AND I TRIED TO TELL

1381
00:51:57,200 --> 00:52:00,160
THEM IS THAT YOU NEED TO GET

1382
00:52:00,160 --> 00:52:01,440
CONNECTED TO THE REST OF THE

1383
00:52:01,440 --> 00:52:03,120
SOCIETY BECAUSE SOME OF THE HIGH

1384
00:52:03,120 --> 00:52:03,880
THROUGH PUT OF YOUR RESEARCH

1385
00:52:03,880 --> 00:52:04,880
WILL BE FROM THE LIVING

1386
00:52:04,880 --> 00:52:07,080
EXPERIENCE AND I GAVE ONCE

1387
00:52:07,080 --> 00:52:08,440
SPECIFIC EXAMPLE, WE START USING

1388
00:52:08,440 --> 00:52:11,640
WHOLE GENOME SEQUENCING TO

1389
00:52:11,640 --> 00:52:13,000
INVESTIGATE SICKLE CELL DISEASE

1390
00:52:13,000 --> 00:52:14,040
BECAUSE 1 OF OUR PATIENTS HAPPEN

1391
00:52:14,040 --> 00:52:18,280
TO BE 1 OF OUR FRIENDS, SAY WHY

1392
00:52:18,280 --> 00:52:20,640
IS THAT I LIVE 65 YEARS OLD

1393
00:52:20,640 --> 00:52:23,120
HAVING SICKLE CELL DISEASE

1394
00:52:23,120 --> 00:52:24,160
LIVING IN AFRICA WITHOUT

1395
00:52:24,160 --> 00:52:25,560
TREATMENT AND I THOUGHT PERHAPS

1396
00:52:25,560 --> 00:52:27,000
THIS GUY MAY HAVE SOME OF THE

1397
00:52:27,000 --> 00:52:28,240
VARIANT THAT IF WE DO NOT HAVE

1398
00:52:28,240 --> 00:52:30,160
THAT CONTACT, THE DIRECT CONTACT

1399
00:52:30,160 --> 00:52:31,800
IT MAY NOT HAVE HELPED AND THAT

1400
00:52:31,800 --> 00:52:33,800
IS THE LIVING EXPERIENCE.

1401
00:52:33,800 --> 00:52:36,640
SO, INCREASING THE POOL OF

1402
00:52:36,640 --> 00:52:37,960
SCIENTISTS, DATA FROM EVERY

1403
00:52:37,960 --> 00:52:40,040
PARTY, NOT JUST REPRESENTATION,

1404
00:52:40,040 --> 00:52:41,280
IT'S ALSO INCREASING DIFFERENT

1405
00:52:41,280 --> 00:52:44,160
MIND SET, DIFFERENT WAY OF LIFE

1406
00:52:44,160 --> 00:52:50,160
AND DIFFERENT KD--SALLY [INDISC.

1407
00:52:50,160 --> 00:52:51,680
>> AMBROISE, I HAVE A
COUPLE

1408
00:52:51,680 --> 00:52:55,000
QUESTIONS, ACTUALLY.

1409
00:52:55,000 --> 00:52:56,960
REGARDING RETURN OF RESULTS.

1410
00:52:56,960 --> 00:53:01,040
I WAS WONDERING HOW WE CAN GUIDE

1411
00:53:01,040 --> 00:53:02,760
AND BASE EXPECTATIONS OF

1412
00:53:02,760 --> 00:53:04,680
FAMILIES WHEN WE RETURN THIS

1413
00:53:04,680 --> 00:53:08,440
RESOURCE TO THEM FOR THE FIRST

1414
00:53:08,440 --> 00:53:09,960
TIME PERHAPS THAT'S WHEN WE KNOW

1415
00:53:09,960 --> 00:53:10,920
THE DIAGNOSIS OF WHAT THE

1416
00:53:10,920 --> 00:53:12,360
CHILDREN ARE SUFFERING FROM FOR

1417
00:53:12,360 --> 00:53:15,480
ALL THESE YEARS, HOW DO WE

1418
00:53:15,480 --> 00:53:18,880
MANAGE THE EXPECTATION OF WOULD

1419
00:53:18,880 --> 00:53:21,880
THIS LEAD TO CURE?

1420
00:53:21,880 --> 00:53:22,960
WOULD THIS LEAD TO TREATMENT?

1421
00:53:22,960 --> 00:53:23,960
I'M CONCERN BODY THAT I DON'T

1422
00:53:23,960 --> 00:53:25,600
KNOW IF YOU CAN MAKE 1 OR 2

1423
00:53:25,600 --> 00:53:28,000
STATEMENTS ABOUT HOW WE CAN

1424
00:53:28,000 --> 00:53:29,520
MONITOR AND MANAGE THAT

1425
00:53:29,520 --> 00:53:31,600
EXPECTATION, YOU KNOW SO THE

1426
00:53:31,600 --> 00:53:33,640
OTHER QUESTION I HAVE IS I WAS

1427
00:53:33,640 --> 00:53:34,640
ACTUALLY QUITE INTRIGUED WHEN

1428
00:53:34,640 --> 00:53:36,000
YOU MADE A STATEMENT ABOUT

1429
00:53:36,000 --> 00:53:39,800
SICKLE CELL WAS IN SOUTH AFRICA

1430
00:53:39,800 --> 00:53:42,440
AT SOME POINT BUT IT LEFT AND I

1431
00:53:42,440 --> 00:53:45,440
WONDER HOW THAT DATA WAS

1432
00:53:45,440 --> 00:53:46,920
DETERMINED AND BECAUSE IT'S

1433
00:53:46,920 --> 00:53:49,720
ABSOLUTELY FASCINATING THAT IT

1434
00:53:49,720 --> 00:53:51,960
WAS LOST.

1435
00:53:51,960 --> 00:53:54,600
>> OKAY, I THINK THE FIRST

1436
00:53:54,600 --> 00:53:56,400
QUESTION THERE ARE 2 WAYS TO

1437
00:53:56,400 --> 00:53:56,920
RESPOND.

1438
00:53:56,920 --> 00:53:59,360
THE FIRST 1 IS THE REAL DATA

1439
00:53:59,360 --> 00:54:00,480
WHEN WE PERFORM OUR

1440
00:54:00,480 --> 00:54:02,160
[INDISCERNIBLE] PROJECT WE USE 3

1441
00:54:02,160 --> 00:54:03,520
DIFFERENT CASE SCENARIO, WE

1442
00:54:03,520 --> 00:54:05,200
INVESTIGATED USING QUALITATIVE

1443
00:54:05,200 --> 00:54:06,200
APPROACH, WOULD YOU LIKE THE

1444
00:54:06,200 --> 00:54:08,680
RESULT TO BE RETURNED IN 3 GROUP

1445
00:54:08,680 --> 00:54:09,200
OF PEOPLE?

1446
00:54:09,200 --> 00:54:11,520
THE FIRST 1 WAS PEOPLE WITH

1447
00:54:11,520 --> 00:54:13,160
SICKLE CELL DISEASE, SECOND 1

1448
00:54:13,160 --> 00:54:15,080
WITH PEOPLE WITH FRAGILE X

1449
00:54:15,080 --> 00:54:16,520
SYNDROME, THE THIRD GROUP WAS

1450
00:54:16,520 --> 00:54:18,840
GROUP OF PEOPLE WITH

1451
00:54:18,840 --> 00:54:20,240
DEVELOPMENTAL CONDITION, THE

1452
00:54:20,240 --> 00:54:22,640
THIRD GROUP WAS PEOPLE WITH

1453
00:54:22,640 --> 00:54:25,720
INFECT YOWZ DISEASE SPECIFICALLY

1454
00:54:25,720 --> 00:54:26,040
HIV.

1455
00:54:26,040 --> 00:54:27,400
AND THE HIV THAT WAS

1456
00:54:27,400 --> 00:54:31,000
INVESTIGATED IN BOTSWANA REALLY

1457
00:54:31,000 --> 00:54:31,640
INTERROGATED [INDISCERNIBLE] THE

1458
00:54:31,640 --> 00:54:32,640
CHILDREN WHO WERE AFFECTED BY

1459
00:54:32,640 --> 00:54:35,440
HIV AND IN THERE WERE SO GENOMIC

1460
00:54:35,440 --> 00:54:36,760
RESEARCH, THEY NOT THE RESULT

1461
00:54:36,760 --> 00:54:38,800
BACK, EVEN THOUGH THEY WILL NOT

1462
00:54:38,800 --> 00:54:40,320
CURE THEIR CHILD, THEIR REASON

1463
00:54:40,320 --> 00:54:42,400
IS THAT THEY GET EDUCATED OF

1464
00:54:42,400 --> 00:54:43,600
WHAT HAVE BEEN RESEARCH.

1465
00:54:43,600 --> 00:54:46,120
IN THE GROUP OF PEOPLE IN SOUTH

1466
00:54:46,120 --> 00:54:48,160
AFRICA, THAT WAS INVESTIGATED,

1467
00:54:48,160 --> 00:54:49,840
ALL THIS DATA I'M TALKING ABOUT

1468
00:54:49,840 --> 00:54:51,560
ARE PUBLISHED SO IF YOU COULD

1469
00:54:51,560 --> 00:54:53,320
TYPE ON THE INTERNET, WITH ALL

1470
00:54:53,320 --> 00:54:55,880
THOSE DATA.

1471
00:54:55,880 --> 00:54:57,960
IN THE GROUP OF THE CONDITION IN

1472
00:54:57,960 --> 00:55:00,320
SOUTH AFRICA, AGAIN, THEY ARE

1473
00:55:00,320 --> 00:55:01,600
EXPECTATION OF HAVING THIS

1474
00:55:01,600 --> 00:55:02,920
RESULT WAS NOT TO CURE THE

1475
00:55:02,920 --> 00:55:04,320
CONDITION IN THE [INDISCERNIBLE]

1476
00:55:04,320 --> 00:55:06,920
THE EXPECTATION WAS A TEACHABLE

1477
00:55:06,920 --> 00:55:09,200
TIME WITH THOSE PEOPLE.

1478
00:55:09,200 --> 00:55:10,800
THE EXPECTATION WAS ALSO

1479
00:55:10,800 --> 00:55:11,720
DIAGNOSTIC CLOSURE.

1480
00:55:11,720 --> 00:55:15,360
WE SAW THE SAME IN CAMEROON WITH

1481
00:55:15,360 --> 00:55:17,880
THE FRAGILE X SYNDROME WHO WERE

1482
00:55:17,880 --> 00:55:19,880
JUST RAP HAPPY TO KNOW AND HAVE

1483
00:55:19,880 --> 00:55:21,720
A NAME FOR THE CONDITION THAT

1484
00:55:21,720 --> 00:55:22,560
THEIR CHILD HAVE.

1485
00:55:22,560 --> 00:55:24,480
SO WE THINK PEOPLE WANT TO ARE

1486
00:55:24,480 --> 00:55:25,920
THE RESULT BACK, THAT'S THE

1487
00:55:25,920 --> 00:55:27,640
FIRST THING, WHATEVER THE RESULT

1488
00:55:27,640 --> 00:55:28,120
FOR.

1489
00:55:28,120 --> 00:55:28,880
THE SECOND PART OF YOUR

1490
00:55:28,880 --> 00:55:31,320
QUESTION, IS THAT CAN WE ACT ON

1491
00:55:31,320 --> 00:55:35,200
RESULT THAT WE HAVE?

1492
00:55:35,200 --> 00:55:37,760
DURING THE MEETING WE HAD IN

1493
00:55:37,760 --> 00:55:39,480
TUNISIA, WE ARRIVED AT POINT

1494
00:55:39,480 --> 00:55:41,160
THAT ACTION OR NO RESULT MAY NOT

1495
00:55:41,160 --> 00:55:43,520
BE NECESSARILY--IT MAY BE

1496
00:55:43,520 --> 00:55:45,120
COUNSELING AND THAT GROUP OF

1497
00:55:45,120 --> 00:55:46,800
EXPERT RESULT, FOR EXAMPLE, THAT

1498
00:55:46,800 --> 00:55:48,880
PEOPLE THAT HAVE THE

1499
00:55:48,880 --> 00:55:49,920
[INDISCERNIBLE] CARRY OF SICKLE

1500
00:55:49,920 --> 00:55:51,400
CELL DISEASE, THEY SHOULD KNOW

1501
00:55:51,400 --> 00:55:53,640
BECAUSE THAT CAN INFORM THEIR

1502
00:55:53,640 --> 00:55:54,880
PRODUCTIVE FEATURE, THAT CAN

1503
00:55:54,880 --> 00:55:56,200
INFORM THE CHOICES AND THAT IS

1504
00:55:56,200 --> 00:55:58,160
RETURN OF RESULT AND

1505
00:55:58,160 --> 00:55:58,640
ACTIONABILITY.

1506
00:55:58,640 --> 00:56:00,120
THERE WAS A QUESTION FOR

1507
00:56:00,120 --> 00:56:01,480
EXAMPLE, FOR BREAST CANCER

1508
00:56:01,480 --> 00:56:01,760
GENES.

1509
00:56:01,760 --> 00:56:03,680
IF YOU ARE IN A PLACE WHERE

1510
00:56:03,680 --> 00:56:05,160
MASTECTOMY CANNOT BE PERFORMED

1511
00:56:05,160 --> 00:56:08,120
SHOULD WE RETURN THE RESULT?

1512
00:56:08,120 --> 00:56:10,640
THE RESPONSE WAS THAT THE RETURN

1513
00:56:10,640 --> 00:56:11,880
RESULT SHOULD NOT BE THE

1514
00:56:11,880 --> 00:56:12,760
[INDISCERNIBLE] BY THE ABILITY

1515
00:56:12,760 --> 00:56:13,800
OF MEDICAL SERVICES.

1516
00:56:13,800 --> 00:56:16,680
THE PATIENT FIRST OF ALL WANT TO

1517
00:56:16,680 --> 00:56:19,160
KNOW FIRST IS INFECTED, THE SAID

1518
00:56:19,160 --> 00:56:20,080
THEY COULD HAVE THE POSSIBILITY

1519
00:56:20,080 --> 00:56:22,000
TO MOVE TO 1 SPECIFIC CENTER

1520
00:56:22,000 --> 00:56:23,720
WHERE ACTION CAN BE HAPPENING IN

1521
00:56:23,720 --> 00:56:25,920
THE SAME COUNTRY AND SOMETIME

1522
00:56:25,920 --> 00:56:26,560
INTERNATIONALLY.

1523
00:56:26,560 --> 00:56:28,760
SO THIS IDEA THAT PEOPLE WOULD

1524
00:56:28,760 --> 00:56:31,280
NOT LIKE THE REURN IT OF RESULT

1525
00:56:31,280 --> 00:56:32,640
OUR STUDY OF EVIDENCE FROM THE

1526
00:56:32,640 --> 00:56:33,880
STUDY IN THE GROUND SAY THEY

1527
00:56:33,880 --> 00:56:35,240
WANT THE RESULT TO RETURN, HOW

1528
00:56:35,240 --> 00:56:36,640
DO WE ACTION ON THAT AS A

1529
00:56:36,640 --> 00:56:37,680
DIFFERENT QUESTION.

1530
00:56:37,680 --> 00:56:39,200
THE QUESTION OF THE SICKLE SEAL

1531
00:56:39,200 --> 00:56:43,720
DISEASE HOW DOES IT GET RID IN

1532
00:56:43,720 --> 00:56:46,800
SOUTHERN AFRICA.

1533
00:56:46,800 --> 00:56:49,120
MANY SAY SICKLE CELL IS A

1534
00:56:49,120 --> 00:56:50,800
BALANCE, SO CALLED BALANCE

1535
00:56:50,800 --> 00:56:52,000
SELECTION, IF YOU HAVE SICKLE

1536
00:56:52,000 --> 00:56:53,480
CELL, YOU DIE OF SICKLE CELL,

1537
00:56:53,480 --> 00:56:55,720
YOU DIE OF IT IF YOU ARE NOT

1538
00:56:55,720 --> 00:56:58,200
TREATED, IF YOU DO NOT HAVE

1539
00:56:58,200 --> 00:56:59,400
SICKLE CELL TREATMENT, YOU DIE

1540
00:56:59,400 --> 00:57:02,160
OF ANEMIA, SO AT THE END PEOPLE

1541
00:57:02,160 --> 00:57:03,640
WHO GET TREATMENT FOR SICKLE

1542
00:57:03,640 --> 00:57:04,200
CELL SURVIVE.

1543
00:57:04,200 --> 00:57:06,880
SO WHAT HAPPEN INDEED SOUTH

1544
00:57:06,880 --> 00:57:08,160
AFRICA IS BECAUSE THE STATEMENT

1545
00:57:08,160 --> 00:57:10,040
AND MUSCLE WHERE THERE WAS NO

1546
00:57:10,040 --> 00:57:11,160
MALARIA, PROGRESSIVELY THOSE

1547
00:57:11,160 --> 00:57:13,080
PEOPLE THAT HAVE SICKLE CELL

1548
00:57:13,080 --> 00:57:16,120
DISAPPEAR AND THOSE PEOPLE THAT

1549
00:57:16,120 --> 00:57:17,160
AAA DO NOT SURVIVE BECAUSE THERE

1550
00:57:17,160 --> 00:57:18,840
WAS NO MALARIA AND THE THREAT

1551
00:57:18,840 --> 00:57:20,120
WAS NOT IN THE POPULATION.

1552
00:57:20,120 --> 00:57:24,560
HOW DO WE CONVINCINGLY SHOW WHEN

1553
00:57:24,560 --> 00:57:25,640
IT HAPPENED AND HOW IT HAPPENED

1554
00:57:25,640 --> 00:57:26,520
AND THAT WOULD BE A REQUESTY

1555
00:57:26,520 --> 00:57:29,160
THAT YOU AND I SHOULD SIT AND

1556
00:57:29,160 --> 00:57:29,840
BRAINSTORM ON.

1557
00:57:29,840 --> 00:57:32,120
AND I THINK THAT BRAINSTORMING

1558
00:57:32,120 --> 00:57:34,160
WILL ALLOW PROBABLY HAVING A

1559
00:57:34,160 --> 00:57:36,160
SAMPLE ACROSS THE

1560
00:57:36,160 --> 00:57:37,480
[INDISCERNIBLE] SICKLE CELL SO

1561
00:57:37,480 --> 00:57:42,480
FROM BANTU AND BANTU TO

1562
00:57:42,480 --> 00:57:44,640
SWRAMBIAN AND UPWARDS BY

1563
00:57:44,640 --> 00:57:46,400
STUDYING VERYIATION IN ALL THOSE

1564
00:57:46,400 --> 00:57:47,880
AROUND THE SICKLE CELL MUTATION,

1565
00:57:47,880 --> 00:57:50,320
WE MAY KNOW PERHAPS AT WHAT TIME

1566
00:57:50,320 --> 00:57:52,920
WE WERE LESS AND LESS HAVING

1567
00:57:52,920 --> 00:57:54,760
FREQUENCY IN THIS THE

1568
00:57:54,760 --> 00:57:59,960
POPULATION.

1569
00:57:59,960 --> 00:58:00,400
>> [INDISCERNIBLE].

1570
00:58:00,400 --> 00:58:01,120
>> OKAY, WELL I THINK
WE'RE

1571
00:58:01,120 --> 00:58:03,000
ABOUT OUT OF TIME I CAN JUST ASK

1572
00:58:03,000 --> 00:58:06,400
AFTER THE SESSION IF THAT'S

1573
00:58:06,400 --> 00:58:09,520
HELPFUL.

1574
00:58:09,520 --> 00:58:11,040
>> OKAY, WE HAD LOTS OF

1575
00:58:11,040 --> 00:58:12,080
QUESTIONS ONLINE INCLUDING 1

1576
00:58:12,080 --> 00:58:13,640
FROM SOMEONE WITH A SIMILAR LAST

1577
00:58:13,640 --> 00:58:15,040
NAME AS YOURS AND I THINK HE CAN

1578
00:58:15,040 --> 00:58:16,480
ASK YOU LATER.

1579
00:58:16,480 --> 00:58:18,440
I THINK HE WAS YOUR SON.

1580
00:58:18,440 --> 00:58:21,320
BUT HERE'S A GOOD 1, HOW MUCH

1581
00:58:21,320 --> 00:58:23,080
EAST WEST SOUTH AND NORTH

1582
00:58:23,080 --> 00:58:24,720
AFRICAN GENOME IS REPRESENTED IN

1583
00:58:24,720 --> 00:58:28,760
THE CURRENT GENOME WIDE STUDIES?

1584
00:58:28,760 --> 00:58:30,880
>> EXCELLENT QUESTION,
VERY GOOD

1585
00:58:30,880 --> 00:58:33,320
QUESTION.

1586
00:58:33,320 --> 00:58:34,360
THE STRAIGHT ANSWER IS THAT I

1587
00:58:34,360 --> 00:58:36,000
DOANTD KNOW AND THIS FOLLOWING

1588
00:58:36,000 --> 00:58:38,120
ANSWER IS THAT WE HAVE TO DO IT.

1589
00:58:38,120 --> 00:58:42,400
I THINK WHAT--MAYBE I WILL GO

1590
00:58:42,400 --> 00:58:46,080
BACK TO WHY WE NEED TO DO IT AND

1591
00:58:46,080 --> 00:58:47,000
SAMPLE, AFRICAN POPULATION IS

1592
00:58:47,000 --> 00:58:48,800
NOT ENOUGH, WE NEED TO SAMPLE

1593
00:58:48,800 --> 00:58:50,600
ACCORDING TO REGION, WE NEED TO

1594
00:58:50,600 --> 00:58:51,600
SAMPLE ACCORDING TO COUNTRY,

1595
00:58:51,600 --> 00:58:53,000
WITHIN THE SAME COUNTRY,

1596
00:58:53,000 --> 00:58:57,400
DEFINITE POPULATION.

1597
00:58:57,400 --> 00:58:58,360
ONE IMPLICATION OF THE DOCTOR'S

1598
00:58:58,360 --> 00:59:00,360
STUDY ON THE AGE OF SICKLE CELL

1599
00:59:00,360 --> 00:59:02,480
MUTATION THAT HAVE NOT YET BEEN

1600
00:59:02,480 --> 00:59:04,160
EXPLORED, SICKLE CELL, IF SICKLE

1601
00:59:04,160 --> 00:59:05,960
CELL HAVE A SINGLE ORINTERFERON

1602
00:59:05,960 --> 00:59:08,280
IN AFRICA AND DOES HAVE IT IN

1603
00:59:08,280 --> 00:59:09,640
AFRICA, WE NEED TO DO A STUDY ON

1604
00:59:09,640 --> 00:59:11,280
THAT, THAT MEANS THAT ALL SICKLE

1605
00:59:11,280 --> 00:59:12,800
CELL PATIENT IN THE WORLD, THEY

1606
00:59:12,800 --> 00:59:15,360
ALL CAME FROM AFRICA.

1607
00:59:15,360 --> 00:59:19,000
WE HAVE SICKLE CELL IN ITALIAN,

1608
00:59:19,000 --> 00:59:20,440
SICKLE CELL IN GREASE ACTUALLY

1609
00:59:20,440 --> 00:59:21,800
DISCIPLINARY FERS IN SCREENING

1610
00:59:21,800 --> 00:59:23,080
POPULATION, SICKLE CELL IN THE

1611
00:59:23,080 --> 00:59:25,840
WORLD STARTED IN GREECE, WE HAVE

1612
00:59:25,840 --> 00:59:27,200
SICKLE CELL AMONG PORTUGUESE

1613
00:59:27,200 --> 00:59:28,560
PEOPLE, WE HAVE SICKLE CELL IN

1614
00:59:28,560 --> 00:59:30,960
THE MIDDLE EAST AND IN INDIAN

1615
00:59:30,960 --> 00:59:31,200
PEOPLE.

1616
00:59:31,200 --> 00:59:33,080
ONE QUESTION THAT HAVE NOT BEEN

1617
00:59:33,080 --> 00:59:35,160
EXPLORED WHICH SEEMS TO BE VERY

1618
00:59:35,160 --> 00:59:36,520
STRANGE IS WHEN THE SICKLE CELL

1619
00:59:36,520 --> 00:59:38,880
ARRIVE FOR EXAMPLE IN SARDINNIA

1620
00:59:38,880 --> 00:59:40,800
IN ITALY AT WHAT TIME?

1621
00:59:40,800 --> 00:59:43,000
BECAUSE THEY ALL COME FROM

1622
00:59:43,000 --> 00:59:46,120
AFRICA AND IF SICKLE CELL IS

1623
00:59:46,120 --> 00:59:47,560
DEAD 7000 YEARS AGO, MA MEANS

1624
00:59:47,560 --> 00:59:49,920
SOMEONE HAD TO WORK OR WALK OR

1625
00:59:49,920 --> 00:59:53,800
TAKE A CAR FROM WEST AFRICA TO

1626
00:59:53,800 --> 00:59:58,680
GREECE AT SOME POINT OF TIME.

1627
00:59:58,680 --> 01:00:02,120
WHAT WE SHOULD THEN ASK IS THAT

1628
01:00:02,120 --> 01:00:04,720
AT THIS TIME IN GREECE OR ITALY

1629
01:00:04,720 --> 01:00:07,400
THERE,  IS NO MORE MALARIA,

1630
01:00:07,400 --> 01:00:08,680
RIGHT?

1631
01:00:08,680 --> 01:00:09,920
SICKLE CELL PROBABLY HAPPENED

1632
01:00:09,920 --> 01:00:14,680
BECAUSE OF REPRACTICES DUKS AND

1633
01:00:14,680 --> 01:00:16,800
SURVIVAL.

1634
01:00:16,800 --> 01:00:17,440
IN DIFFERENT ENVIRONMENTS IN

1635
01:00:17,440 --> 01:00:19,400
THOSE PLACES, HOW DOES

1636
01:00:19,400 --> 01:00:22,440
EXPIRATION HAPPEN AND SO THERE

1637
01:00:22,440 --> 01:00:23,840
ARE NUMEROUS LAYER, AGAIN LET ME

1638
01:00:23,840 --> 01:00:25,080
COME BACK TO THE SICKLE CELL

1639
01:00:25,080 --> 01:00:27,400
AGAIN, IF THAT PERSON WALKED TO

1640
01:00:27,400 --> 01:00:28,840
ITALY, HE WOULD PROBABLY CROSS

1641
01:00:28,840 --> 01:00:32,280
THE DESERT, PROBABLY CROSS THE

1642
01:00:32,280 --> 01:00:34,120
MEDITERRANEAN AND HE'S FROM,

1643
01:00:34,120 --> 01:00:35,120
MOVING MAYBE 4000 YEARS AGO,

1644
01:00:35,120 --> 01:00:36,800
THAT MEANS HE LEFT BEHIND FOR

1645
01:00:36,800 --> 01:00:38,400
ALL THOSE POPULATIONS IN NOSE

1646
01:00:38,400 --> 01:00:41,600
AREA, SOME TRACE OF HIS

1647
01:00:41,600 --> 01:00:42,320
VARIATIONS.

1648
01:00:42,320 --> 01:00:43,560
AND THOSE HAD DIFFERENT

1649
01:00:43,560 --> 01:00:44,960
ENVIRONMENTS SO WE HAVE TO

1650
01:00:44,960 --> 01:00:48,400
CAPTURE BOTH THE VARIATION AND

1651
01:00:48,400 --> 01:00:49,640
EFFECTIVELY ENVIRONMENT WE NEED

1652
01:00:49,640 --> 01:00:51,760
TO SAMPLE EVERYWHERE IN AFRICA

1653
01:00:51,760 --> 01:00:53,080
INCLUDING NONAPOPTOTIC THE IN

1654
01:00:53,080 --> 01:00:53,440
AFRICA.

1655
01:00:53,440 --> 01:00:54,440
THERE WAS A PRIVATE CONVERSATION

1656
01:00:54,440 --> 01:00:55,840
EARLIER BEFORE THIS TALK IS THAT

1657
01:00:55,840 --> 01:00:58,440
MAYBE 1 OF THE THING WE SHOULD

1658
01:00:58,440 --> 01:01:01,280
HAVE DONE IF H3 AFRICA WAS TO

1659
01:01:01,280 --> 01:01:03,240
ENGAGE MORE, AND HAVE MORE

1660
01:01:03,240 --> 01:01:06,120
VARIATION IN THOSE AREA, AND TO

1661
01:01:06,120 --> 01:01:07,200
UNDERSTAND HOW WHAT IS THE

1662
01:01:07,200 --> 01:01:08,800
CONNECTION WITHIN THE CONTINENT.

1663
01:01:08,800 --> 01:01:11,320
THERE IS EGYPTIAN GENOME PROJECT

1664
01:01:11,320 --> 01:01:13,680
THAT SHOWS THAT ACTUALLY PRESENT

1665
01:01:13,680 --> 01:01:16,000
THE EGYPTIAN, WHATEVER, HOW THEY

1666
01:01:16,000 --> 01:01:17,560
LOOK, ABOUT 14% ABOUT THE

1667
01:01:17,560 --> 01:01:18,960
GENERATED VARIATION THAT COME

1668
01:01:18,960 --> 01:01:23,640
FROM WEST AFRICA, SO, BUT IF YOU

1669
01:01:23,640 --> 01:01:27,000
GO TO EGYPT TODAY IN THE DELTA

1670
01:01:27,000 --> 01:01:29,960
AREA, MOST EGYPTIAN WILL HAVE

1671
01:01:29,960 --> 01:01:32,000
[INDISCERNIBLE] ANCESTOR WHICH

1672
01:01:32,000 --> 01:01:33,680
IS NOT ALWAYS THE CASE SO THERE

1673
01:01:33,680 --> 01:01:35,680
IS STILL A MISSING LINK OF THE

1674
01:01:35,680 --> 01:01:36,640
MAPPING WITHIN THE CONTINENT

1675
01:01:36,640 --> 01:01:38,200
THAT WE HAVE TO DO, HOPEFULLY IN

1676
01:01:38,200 --> 01:01:42,200
THE NEXT 10 YEARS, PERHAPS 20.

1677
01:01:42,200 --> 01:01:45,320
>> WELL, THANK YOU SO MUCH

1678
01:01:45,320 --> 01:01:46,920
DR. WONKMAN FOR THE WONDERFUL

1679
01:01:46,920 --> 01:01:47,960
PRESENTATION AND EVERYONE THAT

1680
01:01:47,960 --> 01:01:50,480
HAS BEEN ABLE TO COME IN PERSON

1681
01:01:50,480 --> 01:01:52,360
AS WELL AS ONLINE.

1682
01:01:52,360 --> 01:01:52,680
[ APPLAUSE ]

1683
01:01:52,680 --> 01:01:55,440
WE WILL GET TO SOME OF YOUR

1684
01:01:55,440 --> 01:01:55,840
QUESTIONS.

1685
01:01:55,840 --> 01:01:57,400
SO THANK YOU VERY MUCH.

1686
01:01:57,400 --> 01:02:00,080
AGAIN, AND WE WILL JUST STAY

1687
01:02:00,080 --> 01:02:01,960
LITTLE BIT AFTERWARDS TO TAKE

1688
01:02:01,960 --> 01:02:03,760
PICTURES AND TO PRESENT YOU WITH

1689
01:02:03,760 --> 01:02:05,600
A PLAQUE.

1690
01:02:05,600 --> 01:02:07,000
THANK YOU.

1691
01:02:07,000 --> 01:02:10,200
[ APPLAUSE ]