Indian scientist and co-founder of Global Gene Corp Dr.

Saumya Jamuar leads discovery of hidden genetic causes

of brain disorders by using new Deep seuencing!
techniue
Mumbai, August 22, 2014: A study led by Indian scientist Dr. Saumya Jamuar, researcher at
Harard Medical Sch!!l and "!st!n #hildren$s H!s%ital, c!&'!under !' (l!bal (ene #!r%, and
)r!'. #hrist!%her *alsh, MD, )hD, chie' !' (enetics and (en!mics at "!st!n #hildren+s
H!s%ital, !%ened u% ne, %!ssibilities '!r -nding genetic causes '!r %rei!usly mysteri!us
neur!l!gic and %sychiatric c!nditi!ns. As %er the August 21st issue !' .he /e, 0ngland
J!urnal !' Medicine Dr. Jamuar led this study al!ng ,ith )r!'. #hrist!%her *alsh, MD, )hD,
chie' !' (enetics and (en!mics at "!st!n #hildren+s H!s%ital using a techni1ue called 2
targeted high&c!erage se1uencing 3 techni1ue and ,as able t! identi'y subtle s!matic
mutati!ns4th!se a5ecting 6ust a %ercentage !' cells4in %atients ,ith brain dis!rders.
Dr. Jamuar al!ng ,ith )r!'. #hrist!%her *alsh led this study and used a techni1ue called
2targeted high&c!erage se1uencing3 t! -nd mutati!ns in 178 %atients ,ith brain
mal'!rmati!ns !' un9n!,n genetic cause, ,h! had sym%t!ms such as sei:ures, intellectual
disability and s%eech and language im%airments.
;ather than analy:ing the ,h!le gen!me !r e<!me =%r!tein&c!ding regi!ns !' genes>, the
inestigat!rs '!cused !n a %anel !' 9n!,n !r sus%ected genes, but drilled dee%er than the
traditi!nal gen!mic se1uencing techni1ue. *h!le gen!me !r e<!me se1uencing ty%ically
brea9s the D/A int! little 'ragments, each !' ,hich is read multi%le times4ty%ically ?04t!
-nd the disease&causing mutati!n. "ut ?0 reads aren+t statistically en!ugh t! catch
mutati!ns that !nly !ccur in 17 t! 20 %ercent !' !ur cells4es%ecially gien that mutati!ns
may a5ect 6ust !ne !' !ur t,! c!%ies !' a gene. S! *alsh, Jamuar and c!lleagues scaled u%
the number !' reads, se1uencing each candidate gene n!t ?0 but greater than 200 times.
.his enabled them t! -nd mutati!ns in 2@ !' the 178 %atients =1@ %ercent>. A' these, 8
mutati!ns =?0 %ercent> !ccurred in !nly a %r!%!rti!n !' the bl!!d cells =s!&called m!saic
mutati!ns>4 7 !' these 8 ,ere missed by traditi!nal gen!mic se1uencing, and !ne ,as
missed !n a %rei!us ,h!le e<!me se1uencing.
#!mmenting !n the ne, study, Dr. Jamuar said, B.his ne, a%%r!ach enhances ,h!le&
gen!me and ,h!le&e<!me se1uencing. *e '!und that C?0D !' %atients ,ith an identi-ed
mutati!n had a s!matic mutati!n, E?D !' ,hich ,!uld hae been missed !n traditi!nal
testing. .his has huge im%licati!ns '!r researchers studying similar disease c!nditi!ns such
as autism, schi:!%hrenia, etc. It changes the ,ay ,e thin9 ab!ut genetic diseases and lastly,
translates int! clinically releant diagn!stic t!!l that can hel% reach a %atient$s diagn!sis.
*ith increasing diagn!sis and a,areness !' these mutati!ns, the h!%e is that it ,!uld lead
t! identi-cati!n !' a %!tential target '!r mediati!n and cure.B
.raditi!nally, ,e are taught that ,e inherit !ur genes 'r!m !ur %arents and each cell !' !ur
b!dy has the same genetic ma9e u%. Fariati!ns in !ur genes, als! 9n!,n as mutati!ns,
disru%t the 'uncti!n !' the gene and lead t! a disease. .hese mutati!ns can be inherited
'r!m the %arents !r can arise s%!ntane!usly ,hen the egg !r the s%erm is being '!rmed
=als! 9n!,n as de n!! mutati!ns>. In these cases, all cells !' the b!dy ,ill carry the
mutati!n.
H!,eer, m!re recently, researchers are reali:ing that an indiidual can hae t,! !r m!re
di5erent genetic ma9e u% & !ne n!rmal and !ther abn!rmal, a %r!cess 9n!,n as s!matic
m!saicism. In this scenari!, the mutati!n deel!%s a'ter 'ertili:ati!n =,hen the s%erm and
egg hae c!me t!gether t! '!rm the embry!> and hence, !nly a5ects s!me cells but n!t the
!thers. It is estimated that each !ne !' us carries at least !ne such mutati!n in !ur b!dy but
the releance !' s!matic m!saicism t! human disease has n!t been ,ell studied.
.raditi!nal meth!ds !' genetic testing are unable t! detect these =s!matic> mutati!ns and
hence, the true %realence !' s!matic m!saicism in relati!n t! human disease has neer
been 1uanti-ed %rei!usly. /!t eery cell in the b!dy is the same genetically, and disease&
causing mutati!ns d!n+t necessarily a5ect eery cell4ma9ing these mutati!ns easy t! miss
een ,ith ne<t&generati!n gen!mic se1uencing.
Global Gene Corp " ,,,.gl!balgenec!r%.c!m: (l!bal (ene #!r% is a uni1ue %r!ider !'
high&1uality genetic testing serices that are %redictie and %reentie t! %r!ide acti!nable
in'!rmati!n t! cust!mers and %hysicians een be'!re the sym%t!ms !' a disease bec!me
eident. *e are a uni1ue %r!ider !' genetic tests cust!mised '!r the Indian %!%ulati!n.
G!r any edit!rial 1uery, %lease c!ntact:
Abhishe9 "aner6ee H I1 II20??E2?? abhishe9.baner6eeJ9etchumsam%ar9.c!m
Ketchum Sam%ar9 India =)> Limited
Mangalam H!use,
?8, *alchand Hirachand Marg,
"allard 0state, Mumbai M 400 001.