I WANT TO THANK EVERYBODY
PRESENT, IN PERSON AND ALSO ON
THE VIDEOCAST FOR ATTENDING THIS
AFTERNOON'S NIH WEDNESDAY
AFTERNOON LECTURE SERIES.
MY NAME IS CHARLES ROTIMI
I'M THE SCIENTIFIC DIRECTOR FOR
THE GENOME INSTITUTE NHGRI AND
QUITE YOUNG IN THAT POSITION, I
THINK LESS THAN--DEFINITELY LESS
THAN A YEAR SO I'M STILL
LEARNING MY ROPES.
I ALSO WANT TO ACKNOWLEDGE
MEMBERS OF THE NIH GENOMICS AND
HEALTH DISPARITY INTEREST GROUP
CO CHAIRED BY DR. PAULEY JOSEPH
AND [INDISCERNIBLE] AND VINCE
[INDISCERNIBLE].
WHO HAVE BEEN NOMINATED THE WORK
FOR THIS YEAR'S AWARDS, LECTURE
SERIES.
SO NOW FOR THE WONDERFUL
INTRODUCTION OF OUR ESTEEMED
SPEAKER, DR. AMBROISE WONKAM IS
THE PROFESSOR OF GENETIC
MEDICINE AND DIRECTOR OF THE
JOHNS HOPKINS SCHOOL OF
MEDICINE.
AFTER MEDICAL TRAINING FROM THE
FACULTY OF MEDICINE AND
BIOMEDICAL SCIENCES, UNIVERSITY
OF YAOUNDE IN CAMEROON, HE
COMPLETED A THESES IN MEDICAL
SCIENSCIENCES UNIVERSITY OF GEAN
EVALUATION PROCESS EVALUATION--A
IN SWITZERLAND WHERE HE WAS
BEFORE HE ACCEPTED A POSITION IN
HOPKINS UNIVERSITY.
DR. WONKAM PRACTICES GENETICS IN
BOTH EUROPEAN AND AFRICAN
CONTEXT AND HIS RESEARCH IS
REFLECTED IN MORE THAN 180 PEER
REVIEW PUBLICATIONS WHICH ARE
MOLECULAR, CLINICAL, EDUCATIONAL
AND ECOLOGICAL ASPECTS OF
MEDICAL AND HUMAN GENETICS,
VERY, VERY BROAD INTEREST GROUP.
FOR THE PAST 5 YEARS DR. WONKAM
WORK HAS BEEN SUPPORTED BY THE
NATIONAL INSTITUTE OF NHGRI AND
ALSO THE INSTITUTES OF MENTAL
HEALTH AND OF COURSE IN THE UK
[INDISCERNIBLE] TO STUDY SICKLE
CELL DISEASE AND [INDISCERNIBLE]
IMPAIRMENT HE ALSO HAS ACTIVE
GRANTS IN COORDINATING A
CONSORTIA AND DATA CENTER AND TO
INVESTIGATE PROJECT
UNDERSTANDING OF BIG DATA.
HE HAS RECEIVED MANY HONORS AND
AWARDS MOSTLY THE 2021 AWARD
FROM THE UNIVERSITY OF CAPE TOWN
RESEARCHER WHO'S WORK HAS
CONTRIBUTED TO THE ADVANCEMENT
OF SOUTH AFRICAN DISADVANTAGED
PEOPLE.
DR. WONKAM IS ALSO WITH THE
AMERICAN JOURNAL OF HUMAN
GENETICS AMERICAN JOURNAL OF
GENETICS THE JOURNAL OF
COMMUNITY GENETICS AND ACADEMIC
EDITOR OF PLUS 1.
A MEMBER OF THE BOARD OF
GENETICS AND ALSO PRESIDENT OF
THE AFRICAN SOCIETY OF AFRICAN
GENETICS AND THE [INDISCERNIBLE]
AFRICA CONSORTIUM AND BOARD
MEMBER FOR THE INTERNATIONAL
FEDERATION FOR HUMAN GENETICS
AND THE COLLABORATOR OF THE
GLOBAL GENETIC COMMITTEE, AND
FOR THOSE WHO HAVE KNOWN
AMBROISE, AND IN THE EARLY DAYS
OF OUR ESTABLISHMENT OF THE
HUMAN BEGINETS, HE
[INDISCERNIBLE] FOR 10 YEARS AND
WHEN I FIRST MET HIM, I KNEW HE
WAS GOING TO BE GREAT IN LIFE,
HE HASN'T DISAPPOINTED ME OR
HIMSELF.
AND SO, AMBROISE, STILL VERY
PROUD OF YOU AND WELCOME.
[ APPLAUSE ]
D.
>> THANK YOU CHARLES AND I'M
VERY GRATEFUL FOR YOUR
INTRODUCTION.
YOU'RE PROBABLY 1 OF THE REASONS
I'M STANDING HERE TODAY TO SPEAK
TO MANY OF YOU BECAUSE I BELIEVE
1 OF YOUR BRAIN CHILD WHICH IS
THE [INDISCERNIBLE] AFRICAN
CONSORTIUM HAVE GREATLY ADVANCED
MY CAREER.
FOR THOSE THAT ARE IN THE, I AM
GREAT FOR FOR THOSE IN THE ROOM
TO LISTEN TO MY TALK, FOR THOSE
ONLINE, I ACKNOWLEDGE YOU IN THE
FAR AREAS OF THE WORLD THAT HAVE
SENT CONGRATULATIONS FOR THIS
TALK, AND I WON AN AWARD, I HOPE
TO BE THE VOICE OF ALL THOSE
PEOPLE THAT SELDOM HAVE A VOICE.
AND TODAY I WILL TRY TO SPEAK TO
MY PERSONAL JOURNEY, CAREER AND
TO CONVINCE YOU TO AFRICAN
GENOMIC VARIATION IS THE NEXT
FRONTIER OF GLOBAL GENETIC
MEDICINE.
I WOULDN'T SPEND A LOT OF TIME
ON MY TRAINING, MYSELF AS A
GLOBAL CITIZEN HAVING BEEN ABLE
TO WORK IN 3 DIFFERENT CONTINENT
IN THE SOUTHERN HEMISPHERE.
WHEN SOMEONE SAYS WHERE ARE YOU
FROM, I SAY I AM FROM EARTH.
WHEN I TRY TO SET GENETIC
PRACTICE, I USE DIAMETRIC AS A
POINT OF ENTER FOR GENOMIC
MEDICINE AND THE CHILD HERE WAS
THE FIRST CHILD BORN AFTER
GENOMIC TESTING FOR BIRTH FOR
SICKLE CELL DISEASE.
AND WHEN WE START THAD CLINIC WE
STARTED EXPANDING BY PRACTICING
A NORMAL DISMORPHOLOGY,
SPECIFICITY IS THAT WE YOU WILL
HAVE MORE CHILDREN, AFRICAN
ANCESTRY, BASICALLY A FEATURE
THAT WILL HAVE LITERATURE TO
CAPTURE THE MORPHOLOGY IN MOST
POPULATION IN THE WORLD.
SOME OF THOSE SPECIFICITY
IMPROVE OUR UNDERSTANDING AND
KRE TINS SCRIPGZ OF CONDITION,
FOR EXAMPLE, I'M COMPARING HERE
WITH THE SYNDROME FROM AFRICA
WHO LIKE LIKE ANY OTHER NORMAL
KID IN THE STREET BUT IN A CHILD
OF EUROPEAN PARENTS THEY WILL
SAY AND WHAT THEY HAVE LEARNED
THAT THE CHILD [INDISCERNIBLE]
EVERYBODY HAS IN AFRICA.
WE ALSO EXTENDED OUR PRACTICE TO
SINGLE GENE DISORDER AND
ESPECIALLY THOSE THAT AFFECT
MENTAL RETARDATION AND THIS
[INDISCERNIBLE] SYNDROME IN
CAMMA ROON AND 1 OF OUR
DEPARTMENTS WAS TO ESTABLISH IN
THAT SPECIFIC SETTING A
MULTIGENETIC [INDISCERNIBLE] OF
THE SEX DEVELOPMENT.
SO WHEN WE START THE CLINIC WE
QUICKLY REALIZED WE NEEDED
MOLECULAR DIAGNOSTIC GENETICS
ABOUT YOU ALSO FOR A SURGICAL
INTERVENTION FOR WHAT'S NEEDED
AND WE CALL FRIENDS FROM
SWITZERLAND AND FROM FRANCE AND
TO SET THE CLINIC.
THE CLINIC ALLOWED OVER THE
FIRST FEW YEARS TO HAVE A CLEAR
DESCRIPTION OF THE SORT OF SEX
DEVELOPMENT IN THE COUNTRY TO
HAVE A MOLECULAR MAP FOR
CONGENITAL HYPER PLASSIA IN ALL
THE REGION OF THE COUNTRY TO
PROVIDE A TREATMENT FOR SOME
CHILDREN THAT WITHOUT GENETICS
AND A COMBINATION OF
MULTIPETRESSABLE SPECIALTY
ACROSS NUMEROUS COUNTRY THAT
THEY WOULDN'T HAVE HAD OTHERWISE
BEFORE AND ALSO FOR SOME
CONDITION, VERY COMPLEX
CONDITION LIKE IN THIS BOY 14
YEARS OLD AT THE TIME WE SAW HIM
HE HAD A DEVELOPMENT, 1 OVARY ON
1 SIDE, A TESTES,OT OTHER SIDE
HE WOULD SELF-IDENTIFY AS A BOY,
SOCIALLY, LEGALLY AND OWCIAL
PSYCHOLOGICAL BUT HE A
[INDISCERNIBLE] COMPOSITION OVER
TIME SO AFTER ALL THE
APPROPRIATE COUNSELING WE WERE
ABLE TO PROVIDE HIM WITH A
MASTECTOMY, HE HAD A STRONG
BREAST DEVELOPMENT AT THE TIME
BUT ON 1 SIDE AND PROVIDE
NECESSARY [INDISCERNIBLE] FOR
HIS GROWTH.
THIS EXPERIENCE ALLOW US TO SET
AN OPINION PIECE AT TIME WHEN
THE NATIONAL FEDERATION WAS
USING GENETIC FOR GENDER TESTING
TO ADVOCATE AGAINST THE USE OF
IT AND PERHAPS 1 OF THE MOST
INFLUENTIAL PIECE OF WORK WE
PUBLISH, ACCORDING TO THE
AMERICAN ASSOCIATION OF GENETIC
COUNCILORS, THEY THOUGHT THIS
PIECE OF WORK ADVISED THE
INTERNATIONAL FEDERATION AGAINST
THE USE OF GENDER TESTING FOR
SPORT.
THAT PROGRAM AND THE FEW EXAMPLE
I SHOW ALSO SUPPORT THE FACT
THAT RARE DISEASE THAT ARE
HIDDEN IN FAMILY IS NOT JUST
CONSIDERATION FOR
[INDISCERNIBLE], YOU CAN SEE IT
EVERYWHERE.
HERE IS 1 OF MY COUSIN IN
ANOTHER TIME.
HIS NAME IS NEDRA, HE LIVED
ABOUT 4000 YEARS AGO AND SENEB
WAS A PRIEST IN THE COURT OF A
FARROW, SENEB WAS ALSO
RESPONSIBILITY FOR THE
[INDISCERNIBLE] AT THE TIME.
SENEB HAD A VERY BEAUTIFUL WIFE
AS CAN YOU SEE HERE AND THE WIFE
HAD A NORMAL SIZE AND THEY HAD 2
CHILDREN, THIS SLIDE SHOWS THAT
MAYBE 4000 YEARS AGO, 5000 YEARS
AGO, FIRST OF ALL, RARE DISEASE
WAS STILL THERE AND SECONDLY OUR
TOLERANCE FOR DIFFERENCE WAS
PROBABLY MUCH BETTER THAN TODAY.
WE MOVE FROM CAMAROON TO SOUTH
AFROMMICCA BEN 10 YEARS AGO AND
IN SOUTH AFRICA WE WERE IN A
COUNTRY WHERE THERE WAS ALREADY
ESTABLISHED MEDICAL GENETIC
PRACTICE, IT WAS A EXTREMELY
PATHOLOGIC HISTORY AND AT THE
CENTER OF OUR THIS NOW, WHAT WAS
INITIALLY CALLED THE JAIM
ESTIMATE THADON CALL, WE CHANGED
IT TO THE NAME OF THE LADY THAT
IS HERE ON THE SCREEN, THAT LADY
WAS FROM THE [INDISCERNIBLE]
ANCESTRY, SHE MOVE FRIDAY SOUTH
AFRICA SOME HUNDRED YEARS AGO TO
EUROPE, EXPOSED IN MUSEUM TO BE
SEEN AND [INDISCERNIBLE] ANIMAL,
HE EVENTUALLY DIED IN FRANCE, HE
NAME UNDER [INDISCERNIBLE] WAS
TO BRING BACK TO SOUTH AFRICA
ONLY RECENTLY.
THIS INTRODUCTION IS NOT RANDOM.
THIS INTRODUCTION WAS TO SHOW
THAT IN THAT COUNTRY WITH SUCH
PATHOLOGIC HISTORY WHERE
NUMEROUS GROUP WAS SECRETED, IT
WILL ALSO SHOW THE VERY
DIFFERENT PROFILE OF GENETIC
CONDITION.
I HAVE WORK AT UNIVERSITY OF
CAPE TOWN WHERE PROFESSOR PETER
BEIGHTON, SHOWED THIS, THE SOUTH
AFRICA IS THE PROFOUND EFFECT OF
THE OPPRESSION OF THE
POPULATION, ALSO THE WAY THE
POPULATION WAS ESTABLISHED IN
SOUTH AFRICA.
SO WE WERE INVESTIGATING GENETIC
CONDITIONS ACCORDING TO ETHNIC
BACKGROUND OF PEOPLE.
FOR EXAMPLE, IN EUROPEAN WITH
AFRICAN ANCESTRY,
[INDISCERNIBLE] IS THE MOST
COMMON CONDITION AND YOU ALSO
SEE THE DIFFERENCE OF THE
FREQUENCY OF MUTATION ACCORDING
TO THE BACKGROUND IN THIS
PICTURE.
BECAUSE POPULATION WAS
[INDISCERNIBLE] VERY WELL, THEY
SEE A HIGH LEVEL OF THIS
DISORDER OF SOUTH AFFRIC AWE
DESCRIBED THE SYNDROME, WE DRIEB
THE 1 FOR USHER SEN ILLEGALSEN
DROAM AS BASICALLY IN THE
POPULATION OF SOUTH AFRICA WITH
BLACK ANCESTRY, DURING
APARTHEID, A WORKER WAS BEING
PAID AT THE TIME BY
[INDISCERNIBLE] THE WINES AND
MAKE ALCOHOL SYNDROME THE
HIGHEST CONDITION OF
ENVIRONMENTAL ETIOLOGY IN OUR
PRACTICE.
SEVEN OUT OF 1000, THE HIGHEST
IN THE--PRACTICE WILL BE
RELATIVELY DIFFERENT.
WE INVESTIGATED SICKLE CELL
DISEASE IN SOUTH AFRICAN BLACK
POPULATION, ACTUALLY THERE IS NO
SICKLE CELL DISEASE IN THE SOUTH
AFRICAN BLACK POPULATION.
WE DID TRY TO LOOK AT HAPLOTYPE
AND ORDER THE GENE FOUND IN
AFRICAN GENE INCLUDING
[INDISCERNIBLE], THERE'S CLEARLY
A BURDEN WHEN YOU MOVE FROM
SOUTH AFRICA TO CENTRAL AFRICA,
WE ALWAYS REALIZED THAT THE
SOUTH AFRICA BLACK POPULATION
HAD SICKLE CELL DEC IN THE PAST
BECAUSE WE WOULD SEE SOME
EMPHASIS OF THE HAPLOTYPE CELL
MIGRATION.
BUT HAD WE MOVED TO SOUTH
AFRRKSA A THOUSAND YEARS AGO
WHERE THERE'S NO MORE MUTATION
AND THIS IS NOT SOUTH AFRICAN
THIS, IS VERY MUCH MY SON, HE
WAS 20 YEARS YOUNGER IN OUR
GENEVA APARTMENT.
WHAT YOU SEE IN THE BOTTOM LEFT
IS THE UMBILICAL CORD THAT LINK
MY SON TO HIS MOM WHEN HE WAS
BORN AND WE KEPT THAT UMBILICAL
CORD IS BURY IT IN 1 SPECIFIC
PLACE IN WESTERN CAMEROON, MY
PARENT WERE BORN AND WHEN I
VISITED THE HOUSE OF NELSON
MANDELA AND [INDISCERNIBLE]
MANDELA, BEHIND THE HOUSE THERE
IS A TREE, BELOW THE TREE THERE
IS A VOICE OF NELSON MANDELA
SAYING THAT UNDER THE TREE THEY
BURY THE PLACENTA OF THEIR
CHILDREN, THE EXACT SAME
PRACTICE THAT WE DO OUT THERE.
WHAT DOES THAT MEAN?
THAT MEANS THAT [INDISCERNIBLE]E
SAME WAY OF SPEAKING THE SAME
SCULTCULTURE BUT THEY DO NOT HAE
SAME GENETICS AND THIS IS
CRITICAL WHEN WE ARE
INVESTIGATING POPULATION IN
AFRICA.
IN THE MIDDLE OF AFRICA, YOU
HAVE SICKLE CELL, IN SOUTHERN
AFFRIC AYOU DON'T.
ANYTIME YOU HAVE SICKLE CELL IN
SOUTHERN AFRICA OR BLACK SOUTH
AFRICA, YOU DON'T IT MEANS THAT
TYPICALLY, [INDISCERNIBLE]
GENETICALLY DOWN TO SOUTH
AFRICAN BLACKS SO THERE IS A
CLEAR ASSOCIATION BETWEEN
ANTHROPOLOGY CULTURE AND
GENETICS AND THE WAY WE CALL
PEOPLE CAN'T BE, IT HAS TO BE A
SPECIFIC GENETICS TO THE MEDICAL
PRACTICE.
FOR A MORE BETTER BEDDING OFLET
NUMEROUS POPULATION,A LOW US TO
RELINK TO THE [INDISCERNIBLE] IN
THE ROOM, THE DEAD WHAT
CONNECTION AND WE INTRODUCE A
SPECIFIC ISSUE AND A SPECIFIC
SECTION IN THE AMERICAN JOURNAL
OF MEDICAL GENETICS, IT'S MORE
DIVERSE POPULATION AND THESE
STILL EXIST AND THE GOAL IS
CLEARLY TO GIVE THE OPPORTUNITY
TO ALL THOSE PHENOTYPE THAT ARE
NOT NECESSARILY SEEN THAT MAY BE
SPECIFIC TO HAVE A SPACE TO
EASILY PUBLISH IT.
I'LL NOW MOVE TO A CLEAR WERE
AGENDA INFORMED BY OUR
EXPERIENCE WORK NOTHING AFRICA
AS A MEDICAL GENETICIST AND TO
SAY TO PEOPLE HERE THAT THE
FUNDERS ACTUALLY THERE IS A TRUE
REASON WHY WE SHOULD MASSIVELY
INVEST IN GENOMIC VARIATION,
FIRST IS ANCESTRY, WE ARE ALL
AFRICAN.
THE SECOND IS ECOLOGY, AND THE
THIRD 1 IS EQUITY.
ON THE RIGHT SIDE OF THIS SLIDE,
THE FIRST PERSON IS LEEBURGER
AND THE SECOND IS THE
[INDISCERNIBLE] OF SOUTH AFRICA,
[INDISCERNIBLE].
THEY ARE BOTH DOING 1 THING, I
THINK THEY ARE IN A COMPETITION
OF KISS [INDISCERNIBLE].
AND THAT IS 1 OF THOSE THAT WAS
DISCOVERED IN SOUTH AFRICA, THE
REASON I'M SHOWING THIS IS THAT
NOT ONLY WE ARE ALL AFRICAN BUT
SOME OF YOU MAY NOT MOVE
[INDISCERNIBLE] OF AFRICA AND
THERE'S SOME REAL EVIDENCE THAT
WE ALL HAVE TO UP, 3, PERHAPS 5%
OF GENETIC CONTENT OF THOSE
HUMANOID THAT WE CALL GHOST DNA
FOR WHICH WE ARE NOT YET ABLE TO
READ VERY WELL.
I'M SAYING THAT INVESTING IN
AFRICAN POPULATION WOULD ALLOW
US MAYBE TO EXPLORE THOSE DATA.
WHY DO WE NEED TO EXPLORE IT.
LETTAY COME BACK TO COVID-19.
COVID-19 HAD NOT BEEN THAT BAD
IN AFRICA FOR NUMEROUS REASONS,
1 IS IT'S THE YOUNGEST
POPULATION, THE SECOND REASON IS
THIS MARKER THAT WAS DESCRIBED
BY DR. P A BLO IN THE ANCESTRY
THAT WAS INHERITED FROM THE
NEANDERTHAL THAT INCREASED TO
SUCH A HIGH ABILITY TO COVID-19
WITH PEOPLE OF EUROPEAN, WILL BE
IMPORTANT FOR DISEASE AND DNA
CAN IT CAN BEST INVESTIGATED IN
POPULATION OF AFRICAN ANCESTRY.
WE ALSO KNOW THAT THE CURRENT
GENOME DO NOT CAPTURE VARIATION
POPULATION ANCESTRY IN THIS
STUDY.
TEN% OF DNA VARIANT WAS NOT
CAPTURED IN LESS THAN 1000
AFRICAN CARIBBEAN ANCESTRY.
THEY WERE PUBLISHED BY THE
AFRICAN CONSORTIUM ALSO ASSURE
AT LEAST SINGLE COATED
[INDISCERNIBLE].
AND THAT WAY THEY'RE NOT
REFERENCE AND IN EVALUATION IT
SHOWS THATY WE SILL HAVE ROOM TO
DISCOVER SOME OF THOSE NEW
VARIANT.
BY NOT INVESTIGATING THE
POPULATION AFRICAN ANCESTRY, WE
ARE SWITCHING ON OURSELVES
BECAUSE UNDER 2.5% OF GENOME
WIDE ASSOCIATION DATA THAT HAS
DATA FROM POPULATION ANCESTRY
AND THE PERCENT ASSOCIATION AND
THE REASON OF THAT IS THAT THE
SHORTER HAPLOTYPE OF MOST
AFRICAN MAKE FINE MAPPING A BIT
MORE EASIER AND EVEN IF YOU USE
WHOLE EXOHM SEQUENCING, BY
INVESTIGATING SCHIZOPHRENIA THAT
THERE WERE MUTATION IN ABOUT
1000 AFRICAN FROM SOUTH AFRICA.
THOSE RED IN MUTATION WAS
DETECTED IN THE SWEDEN COHORT OF
5000 BUT AFRICAN GROUP YIELDED
MUCH MORE LARGER EFFECT SIZES
BECAUSE OF HIGH LEVEL OF
VARIATION.
SO IT ALL WORKS BUT FOR SINGLE
GENE DISORDER BUT FORCOMPLEX
TRIP.
AND WE ALL KNOW THIS CARTOON BOY
OF THIS TYPE OF ANALYSIS
COMPARISON WHICH IS 1 VARIANT
THAT IS 2 OPINIONED TIMES MORE
POPULAR IN ANCESTRY THAN IN
POPULATION FOR ANCESTRY, OUR
RESPONSIBLE FOR 14% REDUCTION OF
CHOLESTEROL AND THAT LED TO NEW
MEDICATION THAT WE ALL USE.
THESE WERE FOR [INDISCERNIBLE]
AND HIS GROUP DISCOVER 1 GENES
THAT IS MORPHIC BUT IS
RESPONSIBLE FOR TYPE 2 DIABETES.
WHAT DOES THAT MEAN, THAT MEANS
HAVE YOU INVESTIGATED MILLIONS
OF AFRICAN YOU WOULD NOT HAVE
FOUND IT UNLESS YOU INVESTIGATE
A POPULATION WITH AFRICAN
HISTORY.
I WILL NOW MOVE TO A SINGLE GENE
DISORDER.
WE KNOW THAT THE PROFILE OF
SINGLE GENE DISORDER AND VERY
DIFFERENT.
FOR EXAMPLE, HUNTING TON'S
DISEASE, IF YOU HAVE HUNTING
TON'S DISEASE FOR EUROPEAN
ANCESTRY AND TEST FOR HTT, BUT
THAT'S IN 67% OF CASES BUT ONLY
50% WILL BE EXPLAINED BY A
SECOND GENE.
OUR WORK HERE HAVE SHOWN THAT
EXPLAIN 50% OF LOSS IN MOST
EUROPEAN AND ASIAN EXPLAINS IN
MOST AFRICAN, THERE ARE A FEW
EXCEPTIONS, I WILL SPEAK TO IT A
BIT LATER.
THE SECOND REASON WE SHOULD
INVEST IN AFRICAN GENOMIC
VARIATION, THE NORTH-SOUTH AXIS
OF THE CONTINENT.
TO MAKE THAT YOU HAVE THE
CLIMATE FROM 1 AREA TO SOUTH
AFRICA, DIFFERENT TYPE OF FOOD
BUT ALSO DIFFERENT TYPE OF
INFECTION ALONG THE WAY.
AND THIS INFECTION, FOOD AND
ENVIRONMENT ARE MORE NATURAL
SELECTION.
WE ALL KNOW THE STORY OF SICKLE
SOLE DISEASE, WE KNOW THE STORY
OF APOE1 SELECTED AGAINST A
[INDISCERNIBLE].
WE KNOW THE STORY OF SOME VALID
VARIATION THAT WAS SELECTED IN
AFRICA FOR WHICH WE DO NOT YET
HAVE THE REASON FOR EXAMPLE IN
THE CONSORTIUM, THERE WERE 65
MORE LOCI, SUBJECT TO OUR
NATURAL SELECTION, THAT STILL
NEED TO BE EXPLAINED.
OF COURSE THOSE VARIATIONS
SOMETIMES HAVE RELATION TO
DISEASE, LIKE APOE 1 AND KIDNEY
DISFUNCTION IN POPULATION OF
AFRICAN ANCESTRIRY I HOPE
BECAUSE OF THOSE REASONS WE ARE
ALL AFRICAN AND A STUDY OF AN
AFRICAN POPULATION IT IS
IMPERATIVE.
NOW I WILL SPEAK TO THE
IMPERATIVE OF EQUITY.
AFRICA REPRESENT 15% OF THE
WORLD POPULATION BUT TECHNICALLY
5% OF THE PRODUCT MEANS THAT IN
AFRICA, EVEN IF WE HAVE ALL THE
VARIATION POSSIBLY OF OUR GN, WE
MAY NOT ALWAYS BE ABLE TO
INVESTIGATE THEM BECAUSE OF THE
POOR INVESTMENT IN RESEARCH.
AS THE CONSCIENCEQUENCE ISSUES
THE INVESTIGATOR WILL ONLY PAY
PROPERLY IF HE'S LINKED WITH AN
AMERICAN OR EUROPEAN INSTITUTION
EVEN FORINFECTIOUS DISEASE AS
SHOWN ON THIS SLIDE.
AS A CONSEQUENCE, OUR RESEARCH
PRIORITY MAY NOT BE TO RESEARCH
PRIORITIES OF FUNDERS, FOR
EXAMPLE, IN THIS SLIDE THAT WEB
CONNECTED PUBLISHED 10 YEARS
AGO, MOST POPULATION GENETIC IN
AFRICA, GENETIC STUDY BUT NOT
NECESSARILY A STUDY ON CONDITION
THAT MATTER FOR US AS
CLINICIANS, [INDISCERNIBLE] AND
THE KNOWLEDGE OF MOST PHYSICIAN
IS NOT REALLY OPTIMAL BECAUSE
THEY'RE NOT EXPOSED TO GENETICS
IN PRACTICE, THE KNOWLEDGE IN
THE GENERAL POPULATION IS NOT
OPTIMAL FOR EXAMPLE, IN THIS
STUDY, IN WESTERN CAMMA ROON, WE
SHOWED THAT IN THIS FAMILY
SYNDROME, IT WAS CALLED A CURSE
BECAUSE IN THE FAMILY WHERE
THERE FTION A HUGE SYNDROME, IT
WAS BELIEVED THAT THE FOUND OUT
THAT VILLAGE ACHIEVED
[INDISCERNIBLE] THROUGH A CURSE
TO HIS WIFE BECAUSE THEY DID NOT
MOURN SOMEONE FROM THAT VILLAGE
AND THEN HE SAID, YOU OR YOUR
SON WILL HAVE INTELLECTUAL
DISABILITY BUT THAT WAS NOT THE
CASE IT WAS FRAGILE X SYNDROME.
THE [INDISCERNIBLE] UP UNTIL
RECENTLY WE'VE NOT INCLUDED
AFRICAN SENTING PUBLICATION, NOT
INCLUDING AFRICAN OR
PUBLICICATION, BUT THING VS
CHANGED OVER THE PAST FEW
YEARINGS THROUGH AFRICA AND
THESE BIG PROGRAM HAVE ALLOWED
NOT ONLY TO HAVE A BETTER
KNOWLEDGE OF THE STRUCTURE OF
AFRICAN POPULATION, USING GNA
AND GENOME POPULATION WITHIN
AFRICA, WE HAVE AFRICAN
INVESTIGATOR TO BE VERY PRESENT
IN HIGH POWER PUBLICATION IN THE
LITERATURE.
HE IS ALLOWED A AFRICAN PI TO
TRAIN GENERATIONS OR THE NEXT
GENERATION OF SCIENTISTS AND
VERY PROUD PERSONALLY TO SEE IN
THE ROOM SAMUEL EDMOND AND ALSO
CEDRIC [INDISCERNIBLE] IN MY
RESEARCH AND THAT MEANS WE DID A
GOOD JOB AND THESE ARE A FEW
EXAMPLES OF PEOPLE WHO HAVE A
Ph.D. IN MY GROUP AND WHICH
THE INDEPENDENT CAREER ACROSS
THE WORLD.
THIS WOULD NOD HAVE HAPPENED
BEFORE THE RECENT INVESTMENT.
I WILL NOW USE 2 EXAMPLE TO SHOW
HOW WE CAN HARNESS THE GENETIC
VERYIATION BUT AT THE SAME TIME
SHOW THE ANCESTRY.
I WILL START WITH THE TRAGEDY OF
THE COMMON SICKLE CELL DISEASE.
THIS WAS DISCOVERED 112 YEARS
AGO, WE KNOW THAT MOST PEOPLE
THAT EVOLVE IN SICKLE CELL
DISEASE AT LEAST FROM MY
PERSPECTIVE ALSO INTRODUCE ME TO
GENETICS, ACTUALLY I SHARE WITH
YOU A PRIVATE E-MAIL THAT SENT
TO ME BY WILLIAM KAZAZIAN WHERE
HE WAS REMINDING ME THAT BY
DRAINING JOHNS HOPKINS, AND THAT
I WAS HIS GREAT GRANDSON TSKLY
AND HE HAD PEOPLE IN THE LINEAGE
AND SO I WENT BACK AND AT EVERY
SINGLE PERSON HE REQUEST,
UNFORTUNATELY WHEN I JOINED
HOPKINS IN JANUARY HE WAS GONE
AND FINALLY, I'M SITTING IN HIS
OFFICE AT THIS MOMENT SO THE
HISTORY WILL CONTINUE.
SICKLE CELL DISEASE, IN AFRICA
[INDISCERNIBLE] HIS WORK 7000
YEARS AGO, AND THIS IS A
CONDITION THAT SHOWED RED BLED
CELL ON THE HYPOXIA AND THOSE
DISTORTED RED BLOOD CELL
OBSTRUCT VASE O, AND AS A
CONSEQUENCE YOU HAVE ORGAN
DAMAGE AND ALSO ABILITY TO
INFECTION.
SINCE 112 YEARS AGO, THERE IS
NOT YET REALLY AVAILABLE
DEFINITIVE CURE THAT IS REALLY,
REALLY EQUITABLE.
WE KNOW THERE IS BONE MARROW
TRANSPLANTATION AND MOST
RECENTLY GENETICS AND GENE
THERAPY BUT IN AFRICA, HALF OF
CHILDREN WILL STILL BY BEFORE
YEAR 5, IN AMERICA THE SITUATION
HAVEN'T CHANGED DRAMATICALLY
ADULTS WITH SICKLE CELL DISEASE
DIE IN THEIR 50S.
THAT MEANS IN ALL PART OF THE
THE WORLD WE NEED TO LOOK FOR
SOLUTION FOR CURE FOR SICKLE
CELL AND FOR EXAMPLE, PEOPLE
WITH SICKLE CELL DISEASE WOULD
DIE BEFORE OF VASCULAR
COMPLICATION AS SIZE SHOWN IN
THIS SLIDE, ALL THIS ARE SUBJECT
TO GENETIC VARIATION, SO I
PROPOSE SO I SAY THESE ARE
TREATABLE FOR SICKLE CELL
PRIMARY SECONDARY PREVENTION AND
THERAPY.
PRIMARY IS ONLY GENETIC BEFORE
BIRTH AND THIS POSED A LOT OF
POLITICAL ISSUE IN AT LEAST 3
DIFFERENT AFRICAN COUNTRY.
WE SHOW A POTENTIAL CONFLICT
AMONGST DIFFERENT LAYER OF THE
POPULATION, THE DR. ARE NOT
COMFORTABLE AT ALL FOR THE
SICKLE CELL DISEASE WHICH IS NOT
THE CASE FOR THE PARENT-AFFECTED
CHILDREN AS WELL AS ADULT
SITUATION.
SO WE THOUGHT THAT MOVING
GENETIC FOR SECONDARY PREVENTION
WILL BE A GOOD APPROACH IN
RESEARCH, THE REASON WHY WE HAVE
INVESTED THIS DAY, TO LOOK FOR
SUCH ABILITY FOR COMPLICATION
WITH SICKLE CELL DISEASE.
THIS IS THE CASE FOR COMMITTEE
DYSFUNCTION WHERE WE SHOWED THAT
3 GENES, APOA, AND MARKER AND
HLA 1 MUST EXPLAIN THE KIDNEY
DYSFUNCTION AND SICKLE CELL
DISEASE.
AND FOR THERAPY, ABOUT 40 YEARS
BECAUSE OF THE COOPERATIVE STUDY
THAT WAS PERFORMED IN THIS
COUNTRY, HIGH LEVEL OF
[INDISCERNIBLE] WAS ASSOCIATED
WITH LONGER SURVIVAL.
[INDISCERNIBLE] QUANTITATIVE
SUBJECT TO GENETIC VARIATION AD
THIS ALLOWS THE DOCTOR'S GROUP
TO SHOW THAT BY REMOVING THE
TRANSCRIPTIONAL [INDISCERNIBLE]
THAT IS BCL11A, CAN YOU CURE IN
MICE FOR SICKLE CELL DISEASE.
EVERYBODY WAS VERY EXCITED FOR
THE NEWS BECAUSE WE THOUGHT THAT
WAS THE BEST TARGET FOR SICKLE
CELL UNTIL SOMEONE REALIZED THAT
THEY ARE REAL PATIENT IN REAL
LIFE THAT HAVE A DELETION OF
B-CELL 11.
THESE PATIENTS HAVE INCREASED
LEVEL OF HEMOGLOBIN BUT THEY
HAVE SOME INTELLECT ABILITY AND
[INDISCERNIBLE] FORMATION THAT
BAKE BCL 11 AT THAT TIME NEARLY
UNDRUGGABLE, AGAIN
DR. [INDISCERNIBLE] AND HIS
GROUP SHOW THERE IS A
TRANSCRIPTIONAL ENHANCER OF
BCL11 THAT IS SPECIFIC FOR THE
BLOOD CELL OTHERWISE MODIFIED
BC11 ONLY IN RED BLOOD CELL AND
BY CHANGING VOLUME OF THAT
ENHANCER, YOU HAVE THE SAISM
EFFECT IF YOU ARE REMOVED BCL 11
AND IN SUMMARY, YOU REMOVE BCL
11 AND HAVE YOU A CHILD CURE OF
SICKLE CELL, BECAUSE OF NEURO,
DEVELOPMENTAL CONDITION.
YOU MODIFY A LITTLE VARIANT, 50
KB ABOVE AND BEFORE BCL 11.
YOU HAVE INCREASED LEVEL OF
[INDISCERNIBLE] WITHOUT THOSE
MALFORMATION AND BASED ON THAT
THE SUCCESSFUL GENE FOR SICKLE
CELL DISEASE, 1 THAT WAS
PUBLISHED THIS YEAR.
BUT HOW I STUDIED DOZE OF MY
COLLEAGUE, JULIE [INDISCERNIBLE]
IN TANS SWRANNIA, SHOW THAT
THESE 3 VARIANT SHOW THE SICKLE
CELL DISEASE IN EUROPEANS RATHER
EXPLAIN MAXIMUM 20% OF OUR
PATIENT ARE AFRICAN.
SO MAYBE WE DIDN'T FIND THE
MISSING ABILITY BECAUSE THE GWAS
THEY USE TO PERFORM THIS STUDY
WAS DESIGNED ON EUROPEAN
BACKGROUND.
USING THE ADVANTAGE OF THE
DEVELOPED BY [INDISCERNIBLE],
THE GWAS FOR HEMOGLOBIN IN A
GROUP OF SICKLE CELL DISEASE
FROM CAMEROON, WE FOUND AT LEAST
3 THAT EXPLAIN HEMOGLOBIN.
ONE IS VERY STRONG HERE ON
CHROMOSOME 15.
WE KNOW THE GENES THAT IS
EXPLAINED.
WE ARE NOW DOING SOME CELL
EXPERIMENT TO SHOW THE MECHANISM
OF THAT.
WE HAVE DONE AN ANALYSIS BETWEEN
AFRICAN COHORT, THE PUBLISHED
DATA FROM JULIA FROM TANZANIA,
AND ALL INVESTIGATOR IN THIS
COUNTRY HAVE GIVEN UP ACCESS TO
DATA FROM AFRICAN AMERICAN AND I
OUR META-ANALYSIS OF ALL THOSE
DATA SHOW VERY STRONG--NOT ONLY
CONNECTION OF THE VARIANT, THE
TEAM BUT 3 NEW VARIANT THAT
WOULD BE EXPLORED, A TARGET OF
THERAPY.
I HOPE THAT REQUEST
[INDISCERNIBLE] TOO MUCH
[INDISCERNIBLE] ON THIS YOU
UNDERSTAND WHY.
WE NEED TO DO THAT BECAUSE THIS
IS [INDISCERNIBLE], THIS IS A
REAL PATIENT LIVING WITH SICKLE
CELL DISEASE.
HE'S A PATIENT FROM SOUTH
AFRICA.
IN THIS NATURE, HE IS TELLING
HIS OWN STORY, HIS LIFE STORY
AND HIS HOPE IS ASPIRATION THAT
THE RESEARCHER WILL BE ABLE TO
MAKE GENE EDITING, GENE THERAPY
EQUITABLE SPECIFICALLY FOR THOSE
PEOPLE IN FARTHEST PART OF THE
WORLD IN AFRICA THAT REALLY NEED
IT.
ONE THING THAT HAVE NOT YET
PROPERLY BEEN INVESTIGATED IS
OLDER VARIANT THAT MODIFIED GENE
EXPRESSION OF SICKLE CELL
DISEASE AND IN THIS INITIAL
STUDY THAT WE PERFORM ISSUES WE
LOOK FOR THOSE RARE MUTATION
THAT MAY BE ASSOCIATED WITH
LONG-TERMS OF CYCLE CELL
DISEASE.
MAYBE 1 IMPORTANT FINDINGS HERE
IWAS THAT IN THE LONG SURVERIFIR
WE FOUND GENES THAT LOWER BLOOD
PRESSURE IN SICKLE CELL DISEASE
BUT ALSO SOME GENES THAT
INCREASE THE LEVEL OF L
L-GLUTAMINE TO THAT THESE
VARIANT POTENTIALLY INCREASE OR
GENEROUSLY THE L-GLUTAMINE IN
THOSE PATIENTS.
WE EXTEND THIS STUDY IN MORE
PATIENT, WE HAVE MORE THAN 2000
PATIENT AND DATA TO CONFIRM
THESE DATA.
WHY IS IT IMPORTANT TO LOOK FOR
[INDISCERNIBLE]?
AGAIN, THIS IS IN A COUSIN OF MY
NIEWBIAN ANCESTRY, THE ALL
EGYPTIAN ARE MY COUSIN SO THIS
GUY IS TUTANKHAMUN, HE HAD
SICKLE CELL DISEASE, AS WELL AS
THE MRI OF HIS BONE HERE THAT
SHOW NECKROSIS THAT WAS SPECIFIC
TO SICKLE CELL SEIZE.
HE LIVED 6000 YEARS AGO.
THAT MEANS FOR AT LEAST 6000
YEARS SICKLE CELL DISEASE MIGHT
HAVE PUT SPECIFIC PRESSURE ON
THE GERONTOLOGYSTS MEMORY CLONE
OF THOSE THAT HAVE THE CONDITION
ANDER HAPPENS--PERHAPS WE HAVE N
DUE TO SICKLE CELL ITSELF.
WE PUT THIS IN A VERY SMALL
COHORT AND SHOW AT LEAST 3
REGION THAT ARE FOUND TO BE
SELECT INDEED PATIENT OF SICKLE
CELL DISEASE BUT NOT IN CONTROL
IN THE SAMPLE POPULATION AND WE
WILL EXTEND THIS DATA BECAUSE AT
THE TIME WE PERFORM THENS, WE
DID NOT HAVE THE NECESSARY POWER
AND WE SHOULD BE ABLE TO SHOW
MORE ON THIS.
WHY DO WE NEED TO LOOK FOR THOSE
MARKERS OF SELECTION, IT IS
POSSIBLE THAT MANY OF THESE WERE
AT THE SAME TIME.
THIS IS A SIMPLE STUDY THAT 1 OF
MY GRADUATES PERFORMED.
WE LOOK FOR DATA OF 3, 4, AT
LEAST VARIANT THAT HAD BEEN
SELECT INDEED AFRICA, 1 IS THE
SICKLE SEAL DISEASE, THE THIRD 1
IS [INDISCERNIBLE] AND THE FIRST
IS APOE1.
AS YOU CAN SEE MOST OF THOSE
DATA ARE EXACTLY THE SAME REGION
AND IT SUGGESTS THAT SOMEONE
LIKE ME WHO MAY HAVE ALL THOSE
TYPE VARIANT IN HIS BLOOD AND
EACH OF THE VARIANT HAS EFFECT
ON THE HEALTH AND DISEASE.
HOW IF WE COMBANE ALL OF THEM, I
AM INVITING YOUR MIND, YOUR
YOUNG AFRICAN MIND MATHEMATICIAN
TO DESIGN NEW WAYS TO INTEGRATE
THIS FOR EXAMPLE FOR GENETIC
MEDICINE, THE INTERACTION OF
THIS VARIANT AND THE IMPACT ON
HUB AND DISEASE OF PEOPLE WITH
AFRICAN ANCESTRY.
WE BELIEVE TO HAVE THE TOOLS TO
DO IT.
WE HAVE SET THE C COHORT OF NEAY
15,000 SICKLE CELL DISEASE
ACROSS 7 DIFFERENT AFRICAN
COUNTRY, WE ARE FUNDED BY NHLBI
AND WE HOPEFULLY IN THE 5 YEARS
WE WILL ABLE TO ADDRESS THESE
QUESTIONS ACROSS THE CONTINENT.
MY SECOND STORY TO EXPLAIN WHY
INVESTIGATING AFRICAN GENETIC
VARIATION WILL INFORM HEALTH FOR
PEOPLE IN AFRICA DPLOABALLY IS
THE STORY OF HERE KD--SALLY
[INDISCERNIBLE] AND I CAUSE THIS
THE CASE OF A SILENT EPIDEMI.
HERE IN AMERICAN AT BIRTH ABOUT
2 AND 1000 CHILD.
IN NIGERIA ABOUT 71,000 CHILDS
ARE AFRICAN AND 6000 CHILDREN.
SO WHEN A CHILD IS BORN DEAF,
50% OF THE TIME THIS WILL BE DUE
TO GENETIC CAUSE AND MOST OF THE
TIME IT'S NONSYNDROMIC.
OUR DATA SHOWS THAT FOR THOSE
CHILDREN THAT HAVE HEARING
IMPAIRMENT, THERE'S SOMETHING
ELSE, VANNEDDEN BERG SYNDROME
WOULD SUGGEST HEARING IMPAIRMENT
AND SOME BIGMENTATION DEFECT,
FOR EXAMPLE, STRIKING BLUE EYES
IN THIS BROTHER AND SISTER AND
THE EXPLOR AGZ HAS BEEN SIMILAR
AND THIS WAARDENBURG SYNDROME
TYPE 2.
DATA FROM THE A GROUP OF PEOPLE
SHOWS THAT GDB 2 SPOKE TO IT
BEFORE DO NOT EXPLAIN HERE
HEARING IMPAIRMENT IN MOST
POPULATION OF AFRICAN ANCESTRY.
WE FOUND 1 EXCEPTION IN GANNAA
WHERE WE FOUND OUT A MUTATION
WILL EXPLAIN 1 FAMILY OUT OF 3.
BECAUSE THAT WAS A CANNED WHAT
IN THE ROOM DEVELOP A RAPID TEST
FOR THAT VARIANT THAT CAN BE
IMPLEMENTED VERY EASILY AND IT
CAN BE TEST INDEED ANY KITCHEN
IN GANA, AND WE WENT TO GANA TO
THE RAPID TEST OF THE NEW BORN
SCREENING PROGRAM IN GANA, A
REAL PROOF OF EASY GENETIC
IMPLEMENTATION.
WE ALSO TOOK THE OPPORTUNITY TO
EXPLORE WHY THE YOU HADITATION
AND WHEN THE MUTATION OCCUR IN
GANA AND WE FOUND OUT THAT INCUR
IN GHANA, 11,000 YEARS AGO IN A
SINGLE GHANAIAN SYMMETRY, AND IT
WAS DESCRIBED IN JEOPARDY AN,
OUR INVESTIGATOR SHOWS THAT OUR
MUTATION IN GHANA REST ON A
COMPLETELY DIFFERENT HAPLOTYPE
THAN THE 1 FOUND IN GAP AN.
THE 1 WAS EXPLAINED BY THE AGE
OF 6000 SO IT'S MUCH MORE
YOUNGER AND LETTING US TALK TO
THIS ALREADY, IT WAS FOUND TO BE
AGE 11,000 YEARS AND WHY WOULD
SOMEONE SELECT THIS VARIANT OVER
TIME?
A STUDY IN GHANA SHOWS THAT WHEN
YOU HAVE THAT VARIANT, YOU HAVE
A THICKER AND I KNOW.
AND THE THICKER SKIN PROTECT YOU
AGAINST THE MOSQUITO BITE OF
MALARIA, WE DON'T YET KNOW AND
THIS DATA WAS CONFIRMED IN
POPULATION, WITH AMERICAN
ANCESTRY, WE'VE HAD AT THAT
VARIANT.
THIS DATA WE PERFORM IN SIN GAL,
IN SIN GAL WE FOUNDEUR SECOND
RECEPTION, YOU'RE A MUTATION
THAT EXPLAIN 25% OF HEARING
IMPAIRMENT, CONGENITAL HEARING
IMPARTMENT IN SENG GAL, AND WE
ALSO FOUND A [INDISCERNIBLE]
MUTATION.
I AM SHOWING THE MAP OF AFRICA
TO SHOW THAT GHANA AND SENEGALL
DO NOT SHARE A BORDER.
A THERE IS NO DOCUMENTITATION IN
[INDISCERNIBLE], AND MA ALI
SHARE DATA, CAN THERE IS NO GDB
2, HOW IS IT WE HAVE THAT
MUTATION THAT WE ALL THOSE AND
END UP IN GHANA, IN SENEGAL, WE
THINK IT'S HAPPENING THROUGH
TRAIT.
BECAUSE IT WAS ASSEMBLED IN
[INDISCERNIBLE] AND THEN FROM
[INDISCERNIBLE] SHIPPED TO
AMERICA AND ACTUALLY THOSE 2
MUTATION, AND THE MUTATION IN
WHAT WE CALL THE GHANALISE
MUTATION IS AMONG AFRICAN
AMERICAN.
AND 1 FELLOW IS TRYING TO PROVE
THE MOLECULAR, AND THE WAY WE
WILL PROVE IT IS TO SHOW THAT
THE VARIANT FOUND--THE VARIANT
RESTS ON THE SAME HAPLOTYPE, IT
WAS THE EXACT SAME STUDY TO
INVESTIGATE THE AGE OF THE
SEN EGALESE VARIANT.
SO VERY FEW COUNTRY INVESTIGATED
HEARING IMPAIRMENT AT A
MOLECULAR LEVEL, USING FOR
EXAMPLE, WHOLE XOHM SEQUENCING
OUT OF 54 AFRICAN COUNTRY.
THAT MEANS WE STILL HAVE A LOT
TO DISCOVER EENL FOR THIS
CONDITION IN AFFRIC ABECAUSE IF
YOU USE THIS, YOU USE HUNDREDS
OF HEARING IMPAIRMENT, THAT MOST
PEOPLE WITH AFRICAN ANCESTRY IS
LOW, THAT MEANS ARE NOT LOOKING
AT THE RIGHT JEEPS, THAT MEANS
THERE ARE MORE GENES TO BE FOUND
WHERE THE RATE WILL BE 26%
COMPARED TO 70% OF AMERICAN
MIDDLE EASTERN ANCESTRY AND IF
YOU LOOK AT THE A TRANSCRIPT OF
THEINER EAR MANY PEOPLE THINK WE
HAVE AT LEAST THOUSANDS HEARING
IMPAIRMENT GENES TO DISCOVER AND
I WILL ARGUE THAT THE RIGHT WAY
TO DISCOVER THEM IS IN AFRICA.
THE REASON OF MOST DISCOVERY FOR
HRGZ IMPARTMENT WAS DONE IN
PAKISTAN WHERE 14 PEOPLE WERE
DISCOVERED BECAUSE OF THE
CONSANGUINITY AND IN AFRICA
BECAUSE OF THE DIVERSITY SHOWN
BY NUMEROUS STUDY, WE SAMPLE A
LOT OF FAMILY, AT LEAST 2
CHILDREN THAT WERE BORN WITH
HEARING IMPAIRMENT AND
INVESTIGATED USING WHOLE EXOHM
SEQUENCING THE REGION OF THOSE
HEARING IMPAIRMENT OF COURSE WE
STARTED BY THOSE DOSE REGIMEN
AND THAT WAS FOUND ONLY IN 1
FAMILY, FOR EXAMPLE,
[INDISCERNIBLE] 5 AND FOUND A
SECOND FAMILY IN AFRICA WHICH
MEANS THAT WE CONTRIBUTED TO
[INDISCERNIBLE] CONFIRMING THOSE
GENE.
THIS OTHER EXAMPLE ON 1 FAMILY
THAT INITIALLY WAS DESCRIBED,
THE FIRST FAMILY WAS DESCRIBED
IN AMERICA ONLY 15 YEARS AGO,
AND THE SECOND FAMILY FOUND IN
SOUTH AFROMMICCA MAKE A RACE, 1
OF THE HEARING IMPAIRMENT
JEERNS.
AND WE ARE ALSO TAKE THE
OPPORTUNITY TO INVESTIGATE IN
NEW GENES AND NEEZ ARE DATA FROM
GHANA AND IN GHANA WE FOUND 7
CANDIDATE NUMBER OF GENE FOR
HEARING IMPAIRMENT, SOME OF
THOSE WAS--I LEARNED SOMETHING
HERE, IT WAS OBVIOUS FOR
EXAMPLE, IN THIS FAMILY, SMALL
FAMILY, WITH THE VANNEDDEN BERG
SYNDROME, THERE WAS A MUTATION
THAT LIES ON THE VERTICAL
[INDISCERNIBLE] AND THERE IS A P
A XATOX 8 NEGATIVE MICE AND THE
P A XATOX 8 P A X 8 NEGATIVE
MICE AND DEAF.
ANOTHER SMALL FAMILY IN GHANA,
WE FOUND MUTATION IN
[INDISCERNIBLE], WE FOUND IS FOR
KOSOX 9S WHO HAVE MALFORMATION
OF THEINER EAR.
THE OTHER GENES WE ARE CURRENTLY
DEVELOPING FOR MICE MODEL TO
SHOW THE IMPLICATION OF HEARING
IMPAIRMENT OF THE ORIGIN WE ARE
DESCRIBING I CAN TELL YOU WE
HAVE THE SAME NUMBER IN CAME
ROON, THAT WE WERE NOT
EXPECTING.
WE TOOK THE RANDOM APPROACH OF
EXPLORING GENES THAT WE KNOW ARE
IMPAIRMENT IN THE SAME COUNTRY
PATIENT VERSUS CONTROL.
IN PRINCIPLE IF YOU ASSUME THIS
IS A SINGLE GENE DISORDER YOU
HAVEN'T SEE A MAJOR DIFFERENCE
IN THOSE GENES, PATIENTS CONTROL
BUT IT WAS NOT THE CASE IN THIS
STUDY.
WE FOUND THAT DERIVED THE
ANCESTRAL ALLELE IN THE HEARING
IMPAIRMENT WAS DIFFERENT,
PATIENT VERSUS CONTROL,
SUGGESTING AT LEAST 3 THINGS,
FIRST IS THAT ANYTIME YOU HAVE A
SINGLE GENE, MAYBE IN THE ORDER
OF THE HEARING IMPAIRMENT GENES
ARE MODIFIERS, THE POSSIBILITIES
THAT MAY BE THERE IS A GOOD
REASON WHY SOME OF THOSE GENES
WERE SELECTED OVEREVOLUTION, WE
DON'T KNOW WHY AND THE THIRD
POSSIBILITY IS THAT BY
INVESTIGATING HEARING IMPAIRMENT
JEERNS WE MADE FIGURE OUT WHY IF
A HUMAN SPEAKS AND IF HE DOES
SPEAK YOU MAY NOT HEAR.
AND THEY'RE INVITING US TO WORK
ON THE STUDY, THE JOURNAL LIKE
IT SO MUCH THAT THEY MAKE THE
COVER PE FOR IT.
SO THIS SMALL EXAMPLE SHOWED 2
THINGS, THIS IS A SINGLE GENETIC
DISORDER OF HETEROGENERATED
AITY.
FIRST OF ALL VERY FEW PEOPLE
HAVE BEEN INVESTIGATED FOR THIS
CONDITION CALLED HEARING
IMPAIRMENT.
THE SECOND THERE IS A HIGH USING
WHOLE EXSTUDIES OF MULTIPLE
ENDOCRINE SEQUENCING WE CAN
EXPLAIN MOST FAMILY AT 90%
RESOLUTION RATE, FOR THOSE
FAMILY THAT ARE NOT RESOLVED BY
WHOLE EXOHM SEQUENCING, OUR
[INDISCERNIBLE] 15%, MOST OF THE
VARIANT IN NONGENE AND NOVEL
VARIANT 18% OF THEM HAVE NOT
BEEN ASSOCIATED EVEN IN NONGENES
AND THAT MEANS BY USING THOSE
VARIANT THEY IMPROVE THE DISEASE
CURATION GLOBALLY.
OF COURSE BY GENERATING THIS
DATAY WOO ALL FACE A HUGE
ETHICAL ISSUE AND 1 OF THEM WILL
BE THE ACTIONABILITY ON SOME OF
THOSE ON WHICH 1 TO EXPLORE.
SOME OF THEM WILL BE SHOULD WE
EVEN REVERT OR RETURN THE RESULT
TO THOSE FAMILY THAT WE HAVE
INVESTIGATED, OR THAT THEY EVEN
RETURN THE RESULT, WOULD THERE
BE ANY PRACTICAL IMPLICATION IN
TERMS OF CARE FOR THOSE FAMILY,
ARE WE NOT CREATING ADDITIONAL
PROBLEM.
THIS IS SOME OF THE QUESTION WE
ARE INVESTIGATING, 1 OF OUR
PROJECT CALL CALL [INDISCERNIBLD
THAT CALL WHAT WE SHOULD RETURN
IN AFRICA AND WHAT IS THE
PROCESS OF RETURNING THE RESULT
IF WE USE NEXT GENERATION
SEQUENCING TO INVESTIGATE
FAMILIES THIS IS 1 OF A MEETING
WE CONVENE IN TUNISIA TO EXPLORE
SOME OF THOSE QUESTIONS IN 2019.
WE HOPE THAT THE DATA WE ARE
GENERATING FOR EXAMPLE, FOR
GENOME OR EXOHM, WOULD ALLOW
BETTER REPRESENTATION ON THE
DATABASE IN THE LITERATURE AND
THIS WOULD IMPROVE OUR DISEASE
CURATION FOR ANYONE ELSE.
THESE IS ANOTHER EXAMPLE WHY WE
SHOULD IMPROVE THE DATABASE.
THAT WAS A VARIANT FOR
CARDIOMYOPATHY THAT WAS LABELED
PATHOGENIC JUST BECAUSE THERE
WAS NOT ENOUGH AFRICAN IN THE
DATABASE AND THAT VARIANT WAS
PRESENT IN 30% OF PEOPLE WITH
AFRICAN ANCESTRY AND THE
SIMULATION SHOWS THAT IF WE
INCLUDE ONLY 50 PEOPLE IN THE
DATABASE, THIS STATISTIC WOULD
NOT HAVE HAPPENED.
IT MEANS THAT THIS BEAUTIFUL
[INDISCERNIBLE] PROPOSED BY
DR. COLLINS WITH GENOMIC
MEDICINE RESTINGOT HUMAN GENOME
PROJECT HAVE A FEW CRAFTS IN THE
FOUNDATION, THE MISSING VARIANT
IN THE FIRST GENOME OF THE
OLDEST POPULATION, POPULATION
WITH AFRICAN ANCESTRY.
I PROPOSED LAST YEAR THAT WE
NEED TO ADDRESS THIS QUESTION,
WE NEED TO SEQUENCE AT LEAST
[INDISCERNIBLE] FROM THE
AFRICAN.
INITIALLY THIS PROJECT IDEA WAS
A CRAZY IDEA THAT HOPEFULLY WE
FOUND A LOT OF ATTENTION ACROSS
NUMEROUS OFFICES AND MAYBE,
MAYBE ONLY NEXT YEAR INVASION OF
THIS PROJECT WILL SEE LIGHT.
WE BELIEVE THAT WEIGH WANT TO
MAKE GENETIC MEDICINE TRULY
EQUITABLE, WE NEED TO HAVE
REPRESENTATION OF A WIDE GENOME
AND WE NEED TO START WITH OUR
COMMON ANCESTRAL GENOME, A
GENOME OF POPULATION OF AFRICAN
ANCESTRY.
ONLY WE DO THAT AT SCALE, IF WE
DO THAT GENETICS WILL MAKE
MEDICINE TRULY EQUITABLE,'M
PROVE SCIENTIFIC KNOWLEDGE FOR
ALL OF US BUT ALSO ADDRESS
EQUITY OFAC SESES FOR ALL
POPULATION.
THIS IS A GAME I WOULD LIKE TO
PLAY.
THIS IS MY PLEA FOR THE YOUNGEST
OF US IN THE ROOM.
THIS IS MY HOPE AND ASPIRATION
FOR THE NEXT 10 YEARS, MY
CAREER, THE 2030, MAYBE 40 YEARS
IS I'M STILL AROUND AND THIS IS
MY INVITATION FOR YOU TO JOIN US
IN THIS JOURNEY OF EXPLORING OUR
COMMON GENOME FOR POPULATION OF
ANCESTRY, THIS IS THE REASON
MANY FUNDERS, I WOULD LIKE TO
ACKNOWLEDGE HERE HELPED SUPPORT
THE WORK THAT I'M PRESENTING
TODAY AND I'M THANK YOU FOR YOUR
KIND ATTENTION.
[ APPLAUSE ]
>>THE H3 AFRICA HAS BROUGHT
CONTRAST TO THE ACCESSIBILITY OF
NIH AND BRIT O BIOBANK HAVE
ACCESS TO H3 AFRICA SEEMS TO BE
THE SUBJECT TO THE GATE KEEPING
OF THE PROJECTS PIs, WHO FIRST
WANT TO MINE THE DATA FOR THEIR
PUBLICATIONS, DO YOU HAVE
COMMENT ON THAT?
WONDZERING ABOUT THIS AND HOW
YOU SEE THE FUTURE?
>> YEAH, FIRST I WOULD LIKE TO
THANK THE COLLEAGUE THAT ASKED
THE QUESTION FOR HIS POSITIVE
COMMENT.
THE SECOND, THE H3 AFRICA DID
THAT DEFINITELY AT THE IGA,AC
SESESSIBLE SO THE COMMENT THAT
THERE IS A GATE KEEPING IS NOT
FULLY TRUE.
THE SECOND IS THAT THEY HAVE
BEEN IN AFRICA A DEVELOPMENT
PROCESS THAT WAS GIVEN TO A
INVESTIGATOR TO FIRST EXPLORE
THAT DATA, THE DATA WAS
EXCEPTIONALLY LONG, 24 MONTHS
BUT I WOULD LIKE PEOPLE TO PUT
THIS INTO CONTEXT.
IF YOU ARE WORKING IN AFRICA AND
I WORK IN A46A FOR THE PAST
15IERS IF YOU HAVE EXOHM DATA
YOU HAVE TO SEQUENCE OUT OF
AFRICA, JUST THE TRANSFER OF
THOSE DATA FROM THE CORE
FACILITY WHERE YOU SEE IT TAKES
MANY DAYS AND SOMETIMES HAVE YOU
ELECTRICITY THAT ARE CUT AND
THAT DELAY YOUR DATA.
IF YOU WANT TO ANALYZE DATA YOU
NEED TO HAVE AN ARMY OF
BIOINFORMAT CYSTS THAT ALLOW YOU
TO DO SO, YOU HAVE TO HAVE THE
ARMY OF BIOINFORM AT CYSTS.
THAT MEANS YOU ARE COMPETITIVELY
DISADVANTAGED AGAIN ANYONE ELSE,
FOR EXAMPLE LIKE THE ARMY OF
POST DOCS IN THIS ROOM, SO 1
IDEA OF GIVING 24 MONTHS
LEVERAGE WAS TO ALLOW
INVESTIGATORS TO HAVE A CHANCE
TO EXPLORE THOSE DATA, TAKING BO
ACCOUNT THE BEHAVIOR OF
INTERNATIONAL SCIENCES THAT HAVE
PERFORMED IN THE RESEARCH FOR
THE PAST 20 YEARS IN AFRICA AND
TAKING INTO ACCOUNT THE LACK OF
INFRASTRUCTURE AND HUMAN POWER
THAT MAY HAVE ALLOWED
INVESTIGATOR ACTUALLY TO HAVE
ACCESS ON THE KNOWLEDGE THEY
HAVE GENERATED AND ANYONE THAT
CANNOT TAKE THAT TO AN ACCOUNT
WILL BE MISGUIDED EMPLOY BUT I
MUST SAY THOSE DATA DEFINITELY
ARE AVAILABLE AND WE ARE MUCH,
MUCH ENCOURAGING THAT ALL THE
DAILY BASIS AT THAT WE GENERATE
IN THE PUBLIC DATABASE.
>> GREAT PERSPECTIVE FROM
SOMEONE WHO CLEARLY KNOWS IT SO
WELL.
ANY QUESTIONS FROM THE--
>> THANK AND YOU GOOD AFTERNOON.
THANK YOU FOR SUCH A WONDERFUL
LECTURE AND EDUCATING US ON THIS
TOPIC, MY QUESTION IS 2 PARTS
AND YOU SOMEWHAT ENDED ON A
COMPONENT OF MY QUESTION BUT I
WANTED TO ASK, EARLY IN THE
LECTURE YOU REFERENCED EXISTENCE
OF 3.4 MILLION SMBs AND I
WANTED TO ASK YOU IN THE YET
REQUIRED DESCRIPTION COULD BE
HARNESSED TO ELUCIDATE
UNKNOWNIARYS OF THE GENOME HOW
DO RESEARCHERS APPROACH A TASK
THAT APPEAR SO VAST AND FROM
THERE, IS EQUITY IN THE
QUESTIONS ASKED IN THE OUTCOMES
OF THAT RESEARCH IN SHORT?
>> CAN YOU--CAN YOU REPEAT THE
LAST PART OF THE QUESTION,
PLEASE?
>> YEAH, HOW SHOULD RESEARCHERS
APPROACH A TASK THAT APPEARS SO
VAST?
AND HOW CAN EQUITY IN THE
RESEARCH PURSUED AND THE
BENEFITS OF THAT RESEARCH BE
INSURED?
>> YEAH, LET ME RELATE TO THE
QUESTION.
MAYBE I START TO SPEAK TO A
CONFERENCE THAT WAS GIVEN BY A
VERY FAMOUS WRITER FROM NIGERIA,
HER NAME IS [INDISCERNIBLE], SHE
HAS A VERY FAME HOUSE TED
CONFERENCE THAT SHE CALLED THE
DANGER OF THE SINGLE STORY.
AND IN SUMMARY, WHAT SHE SAYS IS
THAT THE SINGLE STORY IS NOT
NATHE STORY IS NOT UNTRUE, IT'S
JUST THE STORY IS NOT COMPLETE.
WHAT YOU ARE TRYING TO SAY IS
THAT WE HAVE IN THE DATABASE AND
UNTRUE, NO AND EVERYTHING IS
CORRECT AND ANYTHING CAN BE USED
FOR POPULATION MOSTLY BUT
THEY'RE NOT COMPLETE, THAT MEANS
THAT HALF OF THE STORY CANNOT BE
TOLD SO THAT MEANS THAT FOR SOME
POPULATION THAT WE HAVE,
PROBABLY NEED TO ADDRESS THE
QUESTION OF EQUITY, INCREASED
THE REPRESENTATIVITY ON
VARIATION, FOR THE QUESTION OF
EQUITY WE SHOULD EXTEND NOT ONLY
TO THE REPRESENTATIVE VARIATION
BUT ALSO TO THE REPRESENTATIVE
OF THOSE THAT INVESTIGATE THOSE
VARIATION.
I DO THINK THE WORKFORCE NEEDS
ALSO TO BE FROM OUR PART OF THE
WORLD, BECAUSE THERE'S SOME
QUESTION YOU CAN ONLY ADDRESS
BECAUSE HAVE YOU A SPECIFIC
LIVING EXPERIENCE.
I MET WITH A COUPLE OF STUDENTS
POST DOC STUDENTS BEFORE AND 1
OF THEM ASK AND I TRIED TO TELL
THEM IS THAT YOU NEED TO GET
CONNECTED TO THE REST OF THE
SOCIETY BECAUSE SOME OF THE HIGH
THROUGH PUT OF YOUR RESEARCH
WILL BE FROM THE LIVING
EXPERIENCE AND I GAVE ONCE
SPECIFIC EXAMPLE, WE START USING
WHOLE GENOME SEQUENCING TO
INVESTIGATE SICKLE CELL DISEASE
BECAUSE 1 OF OUR PATIENTS HAPPEN
TO BE 1 OF OUR FRIENDS, SAY WHY
IS THAT I LIVE 65 YEARS OLD
HAVING SICKLE CELL DISEASE
LIVING IN AFRICA WITHOUT
TREATMENT AND I THOUGHT PERHAPS
THIS GUY MAY HAVE SOME OF THE
VARIANT THAT IF WE DO NOT HAVE
THAT CONTACT, THE DIRECT CONTACT
IT MAY NOT HAVE HELPED AND THAT
IS THE LIVING EXPERIENCE.
SO, INCREASING THE POOL OF
SCIENTISTS, DATA FROM EVERY
PARTY, NOT JUST REPRESENTATION,
IT'S ALSO INCREASING DIFFERENT
MIND SET, DIFFERENT WAY OF LIFE
AND DIFFERENT KD--SALLY [INDISC.
>> AMBROISE, I HAVE A COUPLE
QUESTIONS, ACTUALLY.
REGARDING RETURN OF RESULTS.
I WAS WONDERING HOW WE CAN GUIDE
AND BASE EXPECTATIONS OF
FAMILIES WHEN WE RETURN THIS
RESOURCE TO THEM FOR THE FIRST
TIME PERHAPS THAT'S WHEN WE KNOW
THE DIAGNOSIS OF WHAT THE
CHILDREN ARE SUFFERING FROM FOR
ALL THESE YEARS, HOW DO WE
MANAGE THE EXPECTATION OF WOULD
THIS LEAD TO CURE?
WOULD THIS LEAD TO TREATMENT?
I'M CONCERN BODY THAT I DON'T
KNOW IF YOU CAN MAKE 1 OR 2
STATEMENTS ABOUT HOW WE CAN
MONITOR AND MANAGE THAT
EXPECTATION, YOU KNOW SO THE
OTHER QUESTION I HAVE IS I WAS
ACTUALLY QUITE INTRIGUED WHEN
YOU MADE A STATEMENT ABOUT
SICKLE CELL WAS IN SOUTH AFRICA
AT SOME POINT BUT IT LEFT AND I
WONDER HOW THAT DATA WAS
DETERMINED AND BECAUSE IT'S
ABSOLUTELY FASCINATING THAT IT
WAS LOST.
>> OKAY, I THINK THE FIRST
QUESTION THERE ARE 2 WAYS TO
RESPOND.
THE FIRST 1 IS THE REAL DATA
WHEN WE PERFORM OUR
[INDISCERNIBLE] PROJECT WE USE 3
DIFFERENT CASE SCENARIO, WE
INVESTIGATED USING QUALITATIVE
APPROACH, WOULD YOU LIKE THE
RESULT TO BE RETURNED IN 3 GROUP
OF PEOPLE?
THE FIRST 1 WAS PEOPLE WITH
SICKLE CELL DISEASE, SECOND 1
WITH PEOPLE WITH FRAGILE X
SYNDROME, THE THIRD GROUP WAS
GROUP OF PEOPLE WITH
DEVELOPMENTAL CONDITION, THE
THIRD GROUP WAS PEOPLE WITH
INFECT YOWZ DISEASE SPECIFICALLY
HIV.
AND THE HIV THAT WAS
INVESTIGATED IN BOTSWANA REALLY
INTERROGATED [INDISCERNIBLE] THE
CHILDREN WHO WERE AFFECTED BY
HIV AND IN THERE WERE SO GENOMIC
RESEARCH, THEY NOT THE RESULT
BACK, EVEN THOUGH THEY WILL NOT
CURE THEIR CHILD, THEIR REASON
IS THAT THEY GET EDUCATED OF
WHAT HAVE BEEN RESEARCH.
IN THE GROUP OF PEOPLE IN SOUTH
AFRICA, THAT WAS INVESTIGATED,
ALL THIS DATA I'M TALKING ABOUT
ARE PUBLISHED SO IF YOU COULD
TYPE ON THE INTERNET, WITH ALL
THOSE DATA.
IN THE GROUP OF THE CONDITION IN
SOUTH AFRICA, AGAIN, THEY ARE
EXPECTATION OF HAVING THIS
RESULT WAS NOT TO CURE THE
CONDITION IN THE [INDISCERNIBLE]
THE EXPECTATION WAS A TEACHABLE
TIME WITH THOSE PEOPLE.
THE EXPECTATION WAS ALSO
DIAGNOSTIC CLOSURE.
WE SAW THE SAME IN CAMEROON WITH
THE FRAGILE X SYNDROME WHO WERE
JUST RAP HAPPY TO KNOW AND HAVE
A NAME FOR THE CONDITION THAT
THEIR CHILD HAVE.
SO WE THINK PEOPLE WANT TO ARE
THE RESULT BACK, THAT'S THE
FIRST THING, WHATEVER THE RESULT
FOR.
THE SECOND PART OF YOUR
QUESTION, IS THAT CAN WE ACT ON
RESULT THAT WE HAVE?
DURING THE MEETING WE HAD IN
TUNISIA, WE ARRIVED AT POINT
THAT ACTION OR NO RESULT MAY NOT
BE NECESSARILY--IT MAY BE
COUNSELING AND THAT GROUP OF
EXPERT RESULT, FOR EXAMPLE, THAT
PEOPLE THAT HAVE THE
[INDISCERNIBLE] CARRY OF SICKLE
CELL DISEASE, THEY SHOULD KNOW
BECAUSE THAT CAN INFORM THEIR
PRODUCTIVE FEATURE, THAT CAN
INFORM THE CHOICES AND THAT IS
RETURN OF RESULT AND
ACTIONABILITY.
THERE WAS A QUESTION FOR
EXAMPLE, FOR BREAST CANCER
GENES.
IF YOU ARE IN A PLACE WHERE
MASTECTOMY CANNOT BE PERFORMED
SHOULD WE RETURN THE RESULT?
THE RESPONSE WAS THAT THE RETURN
RESULT SHOULD NOT BE THE
[INDISCERNIBLE] BY THE ABILITY
OF MEDICAL SERVICES.
THE PATIENT FIRST OF ALL WANT TO
KNOW FIRST IS INFECTED, THE SAID
THEY COULD HAVE THE POSSIBILITY
TO MOVE TO 1 SPECIFIC CENTER
WHERE ACTION CAN BE HAPPENING IN
THE SAME COUNTRY AND SOMETIME
INTERNATIONALLY.
SO THIS IDEA THAT PEOPLE WOULD
NOT LIKE THE REURN IT OF RESULT
OUR STUDY OF EVIDENCE FROM THE
STUDY IN THE GROUND SAY THEY
WANT THE RESULT TO RETURN, HOW
DO WE ACTION ON THAT AS A
DIFFERENT QUESTION.
THE QUESTION OF THE SICKLE SEAL
DISEASE HOW DOES IT GET RID IN
SOUTHERN AFRICA.
MANY SAY SICKLE CELL IS A
BALANCE, SO CALLED BALANCE
SELECTION, IF YOU HAVE SICKLE
CELL, YOU DIE OF SICKLE CELL,
YOU DIE OF IT IF YOU ARE NOT
TREATED, IF YOU DO NOT HAVE
SICKLE CELL TREATMENT, YOU DIE
OF ANEMIA, SO AT THE END PEOPLE
WHO GET TREATMENT FOR SICKLE
CELL SURVIVE.
SO WHAT HAPPEN INDEED SOUTH
AFRICA IS BECAUSE THE STATEMENT
AND MUSCLE WHERE THERE WAS NO
MALARIA, PROGRESSIVELY THOSE
PEOPLE THAT HAVE SICKLE CELL
DISAPPEAR AND THOSE PEOPLE THAT
AAA DO NOT SURVIVE BECAUSE THERE
WAS NO MALARIA AND THE THREAT
WAS NOT IN THE POPULATION.
HOW DO WE CONVINCINGLY SHOW WHEN
IT HAPPENED AND HOW IT HAPPENED
AND THAT WOULD BE A REQUESTY
THAT YOU AND I SHOULD SIT AND
BRAINSTORM ON.
AND I THINK THAT BRAINSTORMING
WILL ALLOW PROBABLY HAVING A
SAMPLE ACROSS THE
[INDISCERNIBLE] SICKLE CELL SO
FROM BANTU AND BANTU TO
SWRAMBIAN AND UPWARDS BY
STUDYING VERYIATION IN ALL THOSE
AROUND THE SICKLE CELL MUTATION,
WE MAY KNOW PERHAPS AT WHAT TIME
WE WERE LESS AND LESS HAVING
FREQUENCY IN THIS THE
POPULATION.
>> [INDISCERNIBLE].
>> OKAY, WELL I THINK WE'RE
ABOUT OUT OF TIME I CAN JUST ASK
AFTER THE SESSION IF THAT'S
HELPFUL.
>> OKAY, WE HAD LOTS OF
QUESTIONS ONLINE INCLUDING 1
FROM SOMEONE WITH A SIMILAR LAST
NAME AS YOURS AND I THINK HE CAN
ASK YOU LATER.
I THINK HE WAS YOUR SON.
BUT HERE'S A GOOD 1, HOW MUCH
EAST WEST SOUTH AND NORTH
AFRICAN GENOME IS REPRESENTED IN
THE CURRENT GENOME WIDE STUDIES?
>> EXCELLENT QUESTION, VERY GOOD
QUESTION.
THE STRAIGHT ANSWER IS THAT I
DOANTD KNOW AND THIS FOLLOWING
ANSWER IS THAT WE HAVE TO DO IT.
I THINK WHAT--MAYBE I WILL GO
BACK TO WHY WE NEED TO DO IT AND
SAMPLE, AFRICAN POPULATION IS
NOT ENOUGH, WE NEED TO SAMPLE
ACCORDING TO REGION, WE NEED TO
SAMPLE ACCORDING TO COUNTRY,
WITHIN THE SAME COUNTRY,
DEFINITE POPULATION.
ONE IMPLICATION OF THE DOCTOR'S
STUDY ON THE AGE OF SICKLE CELL
MUTATION THAT HAVE NOT YET BEEN
EXPLORED, SICKLE CELL, IF SICKLE
CELL HAVE A SINGLE ORINTERFERON
IN AFRICA AND DOES HAVE IT IN
AFRICA, WE NEED TO DO A STUDY ON
THAT, THAT MEANS THAT ALL SICKLE
CELL PATIENT IN THE WORLD, THEY
ALL CAME FROM AFRICA.
WE HAVE SICKLE CELL IN ITALIAN,
SICKLE CELL IN GREASE ACTUALLY
DISCIPLINARY FERS IN SCREENING
POPULATION, SICKLE CELL IN THE
WORLD STARTED IN GREECE, WE HAVE
SICKLE CELL AMONG PORTUGUESE
PEOPLE, WE HAVE SICKLE CELL IN
THE MIDDLE EAST AND IN INDIAN
PEOPLE.
ONE QUESTION THAT HAVE NOT BEEN
EXPLORED WHICH SEEMS TO BE VERY
STRANGE IS WHEN THE SICKLE CELL
ARRIVE FOR EXAMPLE IN SARDINNIA
IN ITALY AT WHAT TIME?
BECAUSE THEY ALL COME FROM
AFRICA AND IF SICKLE CELL IS
DEAD 7000 YEARS AGO, MA MEANS
SOMEONE HAD TO WORK OR WALK OR
TAKE A CAR FROM WEST AFRICA TO
GREECE AT SOME POINT OF TIME.
WHAT WE SHOULD THEN ASK IS THAT
AT THIS TIME IN GREECE OR ITALY
THERE, IS NO MORE MALARIA,
RIGHT?
SICKLE CELL PROBABLY HAPPENED
BECAUSE OF REPRACTICES DUKS AND
SURVIVAL.
IN DIFFERENT ENVIRONMENTS IN
THOSE PLACES, HOW DOES
EXPIRATION HAPPEN AND SO THERE
ARE NUMEROUS LAYER, AGAIN LET ME
COME BACK TO THE SICKLE CELL
AGAIN, IF THAT PERSON WALKED TO
ITALY, HE WOULD PROBABLY CROSS
THE DESERT, PROBABLY CROSS THE
MEDITERRANEAN AND HE'S FROM,
MOVING MAYBE 4000 YEARS AGO,
THAT MEANS HE LEFT BEHIND FOR
ALL THOSE POPULATIONS IN NOSE
AREA, SOME TRACE OF HIS
VARIATIONS.
AND THOSE HAD DIFFERENT
ENVIRONMENTS SO WE HAVE TO
CAPTURE BOTH THE VARIATION AND
EFFECTIVELY ENVIRONMENT WE NEED
TO SAMPLE EVERYWHERE IN AFRICA
INCLUDING NONAPOPTOTIC THE IN
AFRICA.
THERE WAS A PRIVATE CONVERSATION
EARLIER BEFORE THIS TALK IS THAT
MAYBE 1 OF THE THING WE SHOULD
HAVE DONE IF H3 AFRICA WAS TO
ENGAGE MORE, AND HAVE MORE
VARIATION IN THOSE AREA, AND TO
UNDERSTAND HOW WHAT IS THE
CONNECTION WITHIN THE CONTINENT.
THERE IS EGYPTIAN GENOME PROJECT
THAT SHOWS THAT ACTUALLY PRESENT
THE EGYPTIAN, WHATEVER, HOW THEY
LOOK, ABOUT 14% ABOUT THE
GENERATED VARIATION THAT COME
FROM WEST AFRICA, SO, BUT IF YOU
GO TO EGYPT TODAY IN THE DELTA
AREA, MOST EGYPTIAN WILL HAVE
[INDISCERNIBLE] ANCESTOR WHICH
IS NOT ALWAYS THE CASE SO THERE
IS STILL A MISSING LINK OF THE
MAPPING WITHIN THE CONTINENT
THAT WE HAVE TO DO, HOPEFULLY IN
THE NEXT 10 YEARS, PERHAPS 20.
>> WELL, THANK YOU SO MUCH
DR. WONKMAN FOR THE WONDERFUL
PRESENTATION AND EVERYONE THAT
HAS BEEN ABLE TO COME IN PERSON
AS WELL AS ONLINE.
[ APPLAUSE ]
WE WILL GET TO SOME OF YOUR
QUESTIONS.
SO THANK YOU VERY MUCH.
AGAIN, AND WE WILL JUST STAY
LITTLE BIT AFTERWARDS TO TAKE
PICTURES AND TO PRESENT YOU WITH
A PLAQUE.
THANK YOU.
[ APPLAUSE ]