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R ADY CHILDREN’S INSTITUTE GENOMIC MEDICINE


GOING

BIG

FOR THE

LITTLE ONES


GOING BIG MEANS

TAKING ACTION


FOR YE ARS,

p e o p l e h ave s p o ke n of t h e p r o m i s e of t h e ge n o m e f o r i m p r ove d h e a l t h . P r e s i d e n t

O b a m a c a l l e d f o r r e n e we d f o c u s o n ge n o m i c , o r p r e c i s i o n m e d i c i n e i n h i s 2 015 St a t e of t h e U n i o n a d d r e s s . M a ny of t h e b r i g h t e s t m i n d s h ave d e d i c a t e d t h e m s e l ve s a n d wo r ke d d i l i ge n t l y t o m a ke t h i s p r o m i s e a r e a l i t y. D e s p i t e i t s p ot e n t i a l , ge n o m e s e q u e n c i n g h a s h a d a l i m i t e d i m p a c t o n t h e p r a c t i ce of m e d i c i n e . I t i s a r e vo l u t i o n i n w a i t i n g .

AT R A D Y C H I L D R E N ’ S I N S T I T U T E , W E H AV E S E I Z E D T H E M O M E N T a n d a r e l e a d i n g t h e w ay w i t h a u n i q u e a p p r o a c h a n d a n u n p r e ce d e n t e d t e a m of wo r l d e x p e r t s . We a r e b u i l d i n g t h e p r e m i e r r e s e a r c h f a c i l i t y d e d i c a t e d t o t h e e l i m i n a t i o n of u n n e ce s s a r y s u f f e r i n g f r o m ge n e t i c d i s e a s e s , a n d h ave s e t a go a l t o b e c o m e t h e f i r s t i n t h e wo r l d t o m a ke ge n o m i c m e d i c i n e f a s t , e a s y a n d f u l l y i n t e g r a t e d i n t o t h e d a i l y s t a n d a r d of c a r e a t R a d y C h i l d r e n’s H o s p i t a l – a n d a r o u n d t h e wo r l d .

UNDER THE DIRECTION OF DR . STEPHEN KINGSMORE ,

who pioneered

r a p i d ge n o m e s e q u e n c i n g f o r c h i l d h o o d d i s e a s e s , R a d y C h i l d r e n’s I n s t i t u t e a n d H o s p i t a l w i l l m a ke m e d i c a l h i s to r y. T h r o u g h o u r i m p l e m e n t a t i o n s c i e n ce , c l i n i c a l t r i a l s a n d e d u c a t i o n i n i t i a t i ve s , we w i l l b e a b l e to p r e d i c t , p r e - e m p t a n d m o r e e f f e c t i ve l y t r e a t my r i a d c h i l d h o o d d i s e a s e s .

W H E R E C HIL D R E N ’ S H E A LT H IS CONCERNED, IT’S TIME TO R A I S E YO U R E X P E C TAT IO N S .


GOING BIG IS POWERED BY

RESEARCH FOCUSED ON IM P L E M E N TAT IO N


We m u s t n ot l o s e s i g h t of t h e f a c t t h a t t h e m a j o r i t y of s e r i o u s l y i l l i nf a n t s c o n t i n u e t o s u f f e r a n d d i e f r o m c o n d i t i o n s we c o u l d h ave d i a g n o s e d . O u r a b i l i t y t o s e q u e n ce t h e ge n o m e a l l ow s u s t o a c c u r a t e l y a n d q u i c k l y d i a g n o s e t h o u s a n d s of c h i l d h o o d d i s e a s e s a n d i nf o r m i n d i v i d u a l i ze d c l i n i c a l c a r e .

We m u s t b e r e l e n t l e s s i n o u r i m p l e m e n t a t i o n s c i e n ce , c l i n i c a l t r i a l s a n d p hy s i c i a n e d u c a t i o n e f f o r t s i f we a r e e ve r t o s e e a d ay w h e n p r e c i s i o n m e d i c i n e r e a c h e s i t s f u l l p ot e n t i a l . W i t h t h i s i n m i n d , we a r e b u i l d i n g a n e w k i n d of r e s e a r c h i n s t i t u t e f r o m t h e g r o u n d u p. We a r e wo r k i n g s i d e by s i d e w i t h R a d y C h i l d r e n’s H o s p i t a l c l i n i c i a n s t o t r a n s l a t e l e a d i n g- e d ge r e s e a r c h i n t o t i m e l y d i a g n o s e s a n d m o r e e f f e c t i ve t r e a t m e n t s f o r o u r p a t i e n t s , a n d t h e n u s i n g t h o s e l e s s o n s t o s e t n e w s t a n d a r d s of c a r e .

T h i s m o d e l , a n d t h e ot h e r g r e a t a s s e t s we h ave a s s e m b l e d , i s a t t r a c t i n g wo r l d- c l a s s r e s e a r c h e r s a n d h e a l t h c a r e p r ov i d e r s t o j o i n u s i n o u r q u e s t t o u n l o c k t h e s e c r e t s of ge n e t i c d i s e a s e s .

WE A RE D E D I C ATE D TO ACCE LE R ATIN G TH E PACE O F I MPLE M E NTATI O N , B U ILD IN G TH E E V ID E N CE BA S E A N D S H A RI N G TH E S E FI N D IN G S TO B E N E FIT CH ILD RE N IN SA N D I EG O A N D A ROU N D TH E WO RLD.


GOING BIG PUTS

KIDS FIRST “Children are an underserved community as far as research goes. They ’re a smaller market segment. They ’re overlooked .” – Ernest Rady


To c h a n ge t h e l i f e of a c h i l d f o r t h e b e t t e r i s t o t r a n s f o r m n ot j u s t o n e i n d i v i d u a l b u t t h e c o u r s e of a n e n t i r e f a m i l y a s we l l . I m a g i n e h ow m u c h m o r e p r o d u c t i ve a n d p r o s p e r o u s o u r co m m u n i t i e s w i l l b e w h e n t h e e n e r g y, e m ot i o n a n d r e s o u r ce s r e q u i r e d t o c a r e f o r s i c k c h i l d r e n i s r e d i r e c t e d t ow a r d h e a l t h i e r, h a p p i e r f u t u r e s .

Ke e p i n m i n d t h a t c h i l d r e n a r e n ot m i n i a t u r e a d u l t s . T h e r e i s m u c h t o b e l e a r n e d a b o u t t h e i r d e ve l o p i n g b o d i e s , a n d b e t t e r t r e a t m e n t s t h a t a r e d e s i g n e d j u s t f o r t h e m a r e n e e d e d . Fu r t h e r m o r e , o n e s i ze w i l l n ot f i t a l l . We n e e d s o l u t i o n s t h a t wo r k we l l f o r a l l c h i l d r e n – e s p e c i a l l y t h o s e of e t h n i c a n d r a c i a l m i n o r i t i e s w h o a c c o u n t f o r t h e m a j o r i t y of p a t i e n t s a t R a d y C h i l d r e n’s H o s p i t a l .

U n d e r s t a n d i n g t h e s e d i f f e r e n ce s i n c h i l d r e n e a r l y o n c a n l e a d t o a l i f e t i m e of b e t t e r h e a l t h . T h e r e’s n o b e t t e r w ay t o e n h a n ce t h e q u a l i t y of a l i f e t h a n by i n t e r ve n i n g e a r l y in childhood.

I m a g i n e w h a t i t wo u l d b e l i ke f o r a c h i l d n o l o n ge r c o nf i n e d by a r a r e d i s e a s e b e c a u s e i t w a s d i a g n o s e d e a r l y a n d h a s b e e n p r e c i s e l y m a n a ge d .


GOING BIG CALLS FOR A SENSE OF

URGENCY I N T H E L I F E O F A C R I T I C A L LY I L L C H I L D , E V E R Y M O M E N T M AT T E R S . A s o n e of o u r f i r s t m ove s t o s c a l e ge n o m e s e q u e n c i n g t o e ve r yd ay c a r e , R a d y C h i l d r e n’s I n s t i t u t e h a s b e g u n to r a p i d l y d e c o d e t h e ge n o m e s of o u r m o s t v u l n e r a b l e b a b i e s i n o u r i n t e n s i ve c a r e u n i t s . I nf a n t s w h o c a n n ot t e l l a d o c t o r w h a t h u r t s o r f e e l s w r o n g .

B y u t ilizi n g t h e G u i n n e s s Wo r l d Re co r d-s e t t i n g , ge n o m e s e q u e n c i n g p r oto co l a n d d ia g n o s t i c s of t w a r e p i o n e e r e d by D r. K i n g s m o r e’s t e a m , we c a n q u i c k l y ze r o i n o n t h e r o ot c a u s e s of a c h i l d ’s c o n d i t i o n . J u s t o n e t e s t c a n s c r e e n f o r t h o u s a n d s of d i s e a s e s , a n d o u r i n n ov a t i ve d a t a -a n a l y s i s s of t w a r e c a n d e l i ve r i nf o r m a t i o n t h a t p hy s i c i a n s c a n i m m e d i a t e l y u s e t o c a r e f o r t h e i r p a t i e n t s’ u n i q u e n e e d s .


gnosis getting a dia n. genome and ically ill childre a full human sequencing the lives of crit e for d sav ld uire cou req e e e cut the tim rs. The advanc Scientists hav with down to 26 hou g es rkin eas wo dis ri, genetic tal in Missou for any known s Mercy Hospi ost halves from Children' que which alm t researchers ped a techni vide an ce reported tha e, have develo ien nom Sc (WGS) and pro Ge ar g pul ico cin Po e sequen company Ed om h gen tec ole bio out wh the California uired to carry currently req . the 50 hours etic disorders found impact gnosis for gen ld have a pro accurate dia Tuesday, cou Rady e Medicine on sident of the journal Genom gsmore, pre Kin the n in hor. WGS ed phe aut d Ste publish the study's lea , according to The research, infants who California and y hours to live in rall and te lite ies titu h wit Ins bab newborn Medicine on children in ms y ste larl mortality in Sy ticu nomics and all postnatal diseases, par Pediatric Ge 30 percent of sis of genetic tors. Almost l in the diagno ptoms to doc sym is a crucial too ir the communicate ects. are unable to to genetic def e minutes or ntries is due babies, we hav developed cou hout €54 "In some of minutes wit r worth over the number g tablet charge ing to ntin ne/ cou pho e - Fre said, accord lly you are ore ica gsm bas , Kin " low Subscribe now ar is complications, y's blood sug ult in disease res hours. If a bab ays del se cases, any sugar...In tho ne they essing machi ce. -built data-proc Popular Scien and igned a custom data analysis, ic des om m tea gen cedure, the specifically for tware cut ed up the pro ecialized sof tem designed Sp sys s. are ute dw In order to spe min t har to 41 EN. It's the firs m 22.5 hours called DRAG lysis time fro down data ana was able to cut total process. uence the the off rs used it to seq another 10 hou se researchers compared tho setting, but the nths old. They in a hospital ted r mo tes fou esting tools n be id-t tha to s rap Whole genome sequencing can be thehni difference between life and death for newborns suffering from genetic yet ir les is lly ill and nd that the ica fou crit The tec que re and d, of we o r metho 57 percent 35 infants wh onal, 50 hou diagnosis in genomes of from the traditi urate genetic rrently se gathered vided an acc methods cu results to tho technique pro r than other new ttejust e "be Th is ds" to get e. ail, abl diseases. A new sequencing procedure cuts down the time involved from 50 hours to 26. these metho week via em ve were compar ws pro Ne im to told rk , Kingsmore ntinue to wo cases, which says, "will co searchers, he available." Re gnoses. dia o be te ura MICHAEL DALDER/REUTERS ology can als even more acc that the techn help] Edico, says itely [it can -term, defin marketing at ort of sh nt ide the "In , vice-pres al research. Gavin Stone is and medic os gn dia cer applied to can

a and getting man genome ing a full hu save the for sequenc vance could ed ad e uir Th req . e urs 26 ho ve cut the tim es down to Scientists ha genetic diseas any known diagnosis for ren. ild ch uri, ill ally ital in Misso lives of critic Mercy Hosp m Children's a technique earchers fro ve developed res t ha , tha me ing ed no ico Ge ce report me sequenc company Ed whole geno Popular Scien rnia biotech to carry out h the Califo ntly required rre cu working wit . urs ers 50 ho netic disord t halves the gnosis for ge which almos accurate dia found provide an uld have a pro (WGS) and Tuesday, co on t of ine re, presiden me Medic no mo gs Ge l Kin rna en in the jou ing to Steph study's , published to live, accord rnia and the lifo urs The research ho Ca ly in ral te ine Institu rly in ildren with lite stems Medic es, particula impact on ch mics and Sy genetic diseas ctors. diatric Geno diagnosis of ptoms to do the Rady Pe te their sym cial tool in the ica cru un a defects. is mm S WG le to co e to genetic ab du un is are s lead author. o trie un ants wh developed co bies and inf l mortality in newborn ba ata stn po rcent of all Almost 30 pe you are er €54 er worth ov low, basically e/tablet charg od sugar is in disease a baby's blo w - Free phon delays result or hours. If y Subscribe no an tes nu es, mi ve those cas bies, we ha ut sugar...In "In some ba nutes witho lar Science. number of mi ing to Popu counting the said, accord re mo g gs Kin ns," ta-processin complicatio stom-built da signed a cu ally for , the team de ned specific ure sig de ced pro tem sys eed up the 5 hours to 41 first hardware In order to sp time from 22. AGEN. It's the data analysis y called DR s. le to cut down machine the total proces and was ab the , off sis aly urs an ho ta other 10 genomic da ftware cut an ed it to ecialized so earchers us minutes. Sp g, but the res s old. spital settin n four month a tested in ho and less tha ill be to ally d, and tic yet is cri e o were hour metho wh 50 ts al, The techniqu an ion inf 35 m the tradit ed an accugenomes of gathered fro hnique provid sequence the ults to those ail, is . The new tec d those res week via em comparable They compare re told News g tools were mo tin gs tes Kin to work , idir rap es, which ill continue cas "w s, of nt say found that the rce 57 pe searchers, he diagnosis in available." Re rate genetic ds currently diagnoses. other metho re accurate "better than get even mo to " ds tho these me ve pro im to

B y e l i m i n a t i n g t i m e - co n s u m i n g , p ot e n t i a l l y p a i nf u l t e s t s a n d t r i a l-a n d- e r r o r d i a g n o s t i c a n d t r e a t m e n t a p p r o a c h e s , we c a n ge t a n a n s we r f a s t e r. T h i s w i l l r e d u ce t h e c o nf u s i n g u n ce r t a i n t y f o r f a m i l i e s

a n d p r e ve n t t h e i n j u r y t h a t c a n a c c u m u l a t e f r o m m i s s e d t r e a t m e n t o p p o r t u n i t i e s . I n a b a by t h i s c a n t r a n s l a t e to m a ny ye a r s of h e a l t hy l i f e – a n d u l t i m a t e l y b r i n g d ow n c o s t s .

O u r p l a n i s to s c a l e o u r r e s o u r ce s ve r y q u i c k l y, s o we c a n p r ov i d e t h i s s e r v i ce f o r i n t e n s i ve c a r e u n i t s a c r o s s t h e r e g i o n , a n d a c r o s s t h e e n t i r e s t a t e of C a l i f o r n i a . I n c r e a s i n g t h e n u m b e r of c h i l d r e n we

s e r ve w i l l a c ce l e r a t e o u r r e s e a r c h e f f o r t s , a n d p r o d u ce l e a r n i n g t h a t c a n b e m o r e b r o a d l y a p p l i e d t o a d v a n ce c a r e f o r a l l c h i l d r e n .

ENCING U Q E S E M NO WHOLE GE O JUST 26 HOURS T TIME CUT 10/1/15

NOR GAFFEY

Article by CO

ENCE THE DIFFER CING CAN BE FERING OME SEQUEN BORNS SUF WHOLE GEN TH FOR NEW IC DISEASES. LIFE AND DEA FROM GENET BETWEEN


COMING GOING BIG MEANS

HERE


T H E L E A D I N G M I N D S I N G E N O M I C S C I E N C E A R E A L R E A DY LO O K I N G T O S A N D I E G O , B E C A U S E W E H AV E A R O B U S T C O M P I L AT I O N O F UNIQUE STRENGTHS: • A r a c ia l l y a n d e t h n i c a l l y d i ve r s e p o p u l at i o n of ove r 9 m i l l i o n p e o p l e , of w h i c h R a d y C h i l d r e n’s H o s p i t a l s e r ve s 9 0 p e r ce nt of t h e a r e a’s c h i l d r e n • St r o n g r e l at i o n s h i p s w i t h t h e n at i o n’s p r e m i e r ge n o m i c b i ote c h co m m u n i t y, h e r e i n o u r ow n b a c k y a r d • A s t r o n g s t r ate g i c a l l ia n ce w i t h t h e Pe d iat r i c s D e p a r t m e nt at T h e U n i ve r si t y of C a l i fo r n ia , S a n D i e go, o n e of t h e wo r l d ’s l e a d i n g r e s e a r c h u n i ve r si t i e s • A c u l t u r e c h a r a c te r ize d by t h e S o u t h e r n C a l i f o r n ia m i n d s e t of p r o g r e s s a n d e nt r e p r e n e u r ia l co l l a b o r at i o n • A h ig h l y p h i l a nt h r o p i c co m m u n i t y r e a d y to p o si t i o n S a n D i e go a s f i r s t-m ove r s i n m e d i c a l i n n ov at i o n . O u r f o u n d i n g g i f t f r o m t h e R a d y f a m i l y h a s e n a b l e d t h e s t a r t-u p of T h e R a d y C h i l d r e n’s I n s t i t u te , w h i c h is p o is e d to b e g i n l a r ge - s c a l e i m p l e m e nt at i o n s c i e n ce , c l i n i c a l t r ia l s a n d e d u c at i o n i n i t iat i ve s t h at w i l l p r o d u ce b e t te r o u tco m e s f o r o u r p e d iat r i c p o p u l at i o n a n d b eyo n d .

T H E S E T H I N G S A L R E A D Y M A K E S A N D I E G O T H E C A P I TA L O F G E N O M I C M E D I C I N E I N T H E U N I T E D S TAT E S . We h ave a r e s p o n si b i l i t y to s y n e r g ize t h e s e a s s e t s , a n d l e a d a n at i o nw i d e r evo l u t i o n i n c h i l d r e n’s h e a l t h c a r e .


GOING BIG IS GAINING M O M

ENTUM

W h e n yo u l o o k a t h ow f a r we’ ve c o m e s i n ce t h e f i r s t h u m a n ge n o m e w a s d e c o d e d , i t ’s e a s y t o f o r e s e e a t i m e w h e n t h e b e n e f i t s of ge n o m e t e s t i n g w i l l b e c o m e a s c o m m o n a s t h o s e of a b l o o d t e s t . B u t we n e e d v i go r o u s e f f o r t i n p r o ce s s e n g i n e e r i n g , i m p l e m e n t a t i o n s c i e n ce , a n d e d u c a t i o n a n d e n g a ge m e n t t o d o t h i s o n a l a r ge s c a l e – a c r o s s a v a r i e t y of h e a l t h c a r e d e l i ve r y s e t t i n g s a n d t o d i ve r s e p a t i e n t p o p u l a t i o n s .

I n s u r a n ce r e i m b u r s e m e n t a n d f e d e r a l d r u g r e g u l a t i o n s d o n ot ye t r e f l e c t t h e v a l u e i n t h i s s h i f t t o p r e c i s i o n m e d i c i n e . I n ot h e r wo r d s , t h e s y s t e m n e e d s t o b e r e f o r m a t t e d . T h i s w i l l r e q u i r e co l l e c t i ve a c t i o n b e t we e n s c i e n ce a n d t e c h n o l o g y, h e a l t h c a r e p r ov i d e r s a n d f a m i l i e s , a n d p o l i c y m a ke r s a n d p r i v a t e e n t e r p r i s e .

Fo r t u n a t e l y, i n S a n D i e go we h ave b e g u n t o g a t h e r c l i n i c a l a n d p a t i e n t- ce n t e r e d d a t a p r ov i n g t h a t e a r l i e r t r e a t m e n t a n d h i g h e r r a t e s of s u c ce s s w i l l l owe r c o s t s . W i t h a s u s t a i n e d , a l l-f r o n t s e f f o r t , we c o u l d ve r y q u i c k l y e f f e c t a s i g n i f i c a n t t r a n s f o r m a t i o n i n b ot h t h e p r a c t i ce a n d t h e e co n o m i c s of m e d i c i n e .


T H E L E A R NIN G H E A LT H C A R E S Y S T E M

E

SI CI

ON MEDIC IN E

PR

A TR ADING ZONE FOR CONTINUOUS IMPROVE ME NT

Continuous advances in genomic science to predict, prevent, diagnose and more effectively treat myriad childhood diseases

N I

E

N

L HO

Marshalling all resources, devices and data-delivery systems to ensure that progress and improvements are adopted system-wide

SC

Education and engagement of researchers, physicians, patients, families, administrators and policymakers

EME N TAT I O

DER PART

PL

IC

M

I

TIO A P

IEN

CE

FU L L STA K

To r e a l i ze t h e p r o m i s e of ge n o m i c m e d i c i n e , R a d y C h i l d r e n’s i s a d o p t i n g a n e w, f l e x i b l e o p e r a t i n g s y s t e m t h a t p u t s t h e p a t i e n t a t t h e ce n t e r of a s e t of n i m b l e o r g a n i z a t i o n s , c o n n e c t e d t o f o r m a c o n t i n u o u s e xc h a n ge of i nf o r m a t i o n s o t h a t e ve r y d i s c ove r y i s q u i c k l y t r a n s l a t e d t o b e t t e r o u t c o m e s .


GOING BIG G E T S M U LT I P L I E D T H R O U G H

RELATIONSHIPS


T h e co m b i n a t i o n of ge n o m i c s c i e n ce a n d c o m p u t i n g p owe r w i l l s h i f t t h e f o c u s of m e d i c i n e f r o m t r e a t i n g s y m p to m s t o i d e n t i f y i n g a n d t r e a t i n g t h e c a u s e s of d i s e a s e . B u t t h e a b i l i t y t o d e c o d e ge n o m e s i s j u s t t h e b e g i n n i n g . I m p l e m e n t a t i o n p r o ce s s e s , e d u c a t i o n a n d e n g a ge m e n t m u s t b e d e ve l o p e d to a n e n t e r p r i s e l e ve l i n o r d e r f o r ge n o m i c m e d i c i n e t o b e c o m e c o s t- e f f e c t i ve a n d e a s y t o a d o p t by h o s p i t a l s a n d c l i n i c s a c r o s s t h e c o u n t r y.

T h i s i s s u c h a h u ge u n d e r t a k i n g ; n o o n e i n s t i t u t i o n c a n d o i t a l o n e . R a d y C h i l d r e n’s I n s t i t u t e i s t a p p i n g o u r n u m e r o u s e x i s t i n g r e l a t i o n s h i p s a n d r e a c h i n g o u t t o ot h e r h e a l t h c a r e o r g a n i z a t i o n s t o g a t h e r t h e e x p e r t i s e n e e d e d t o p r o p e l o u r r e s e a r c h e f f o r t s a n d p u t p r e c i s i o n m e d i c i n e i n t o p r a c t i ce .

We a r e f o r m i n g a c o n s o r t i u m of l i ke -m i n d e d c h i l d r e n’s h o s p i t a l s t o s h a r e i nf o r m a t i o n a n d m a g n i f y o u r e f f o r t s . A s o u r d a t a b a s e g r ow s , i t w i l l b e c o m e s m a r t e r. A n d a s t h e s y s t e m g r ow s m o r e e f f i c i e n t , c o s t s w i l l s h r i n k a c c o r d i n g l y.

THANKS TO THIS STRONG NET WORK , OUR EFFORTS WILL BE M U LT I P L I E D M I N U T E B Y M I N U T E .


GOING BIG GETS R E S

U LT S

W E C A N A L R E A D Y M E A S U R E T H E I M P A C T T H AT G E N O M I C M E D I C I N E H A S H A D O N O U R P AT I E N T S A N D T H E I R FA M I L I E S . H E R E A R E S O M E E X T R A O R D I N A R Y E X A M P L E S O F K I D S A N D FA M I L I E S W H O H AV E B E E N HELPED BY UNLOCKING THE SECRETS IN THEIR GENES.

Savannah


S AVA N N A H

b e g a n h av i n g s e i z u r e s a s a t o d d l e r a n d h a s e x p e r i e n ce d ove r 4 0 , 0 0 0 of

t h e m i n h e r yo u n g l i f e . T h e r o u t i n e d i a g n o s t i c p r o ce s s c o u l d h ave t a ke n ye a r s of t e s t i n g a n d t r i a l-a n d- e r r o r d r u g t r e a t m e n t s . B y u s i n g ge n o m i c s e q u e n c i n g , d o c t o r s d i s c ove r e d t h e c a u s e of h e r c o n d i t i o n . S h e h a s s e ve r a l m u t a t i o n s i n o n e of h e r c a l c i u m ge n e s , w h i c h c a n af f e c t m u s c l e co n t r a c t i o n s . Tr e a t i n g h e r w i t h c a l c i u m c h a n n e l b l o c ke r s r e d u ce d t h e s e i z u r e s by 8 0 p e r ce n t . S av a n n a h’s s t o r y i s a n e xce l l e n t e x a m p l e of h ow ge n e t i c i nf o r m a t i o n i nf o r m s t h e g r ow i n g f i e l d of p h a r m a c o ge n o m i c s : G e t t i n g p a t i e n t s t h e r i g h t d o s e of t h e r i g h t m e d i c i n e a t the right time.

LISEL ,

i s a 10 -ye a r- o l d g i r l w h o h a s s e ve r e a u t i s m . A b o u t

a ye a r a go , d o c t o r s d e t e r m i n e d t h a t t h e c a u s e w a s a r a r e ge n e t i c m u t a t i o n . Ve r y r e ce n t l y, o n e of h e r p hy s i c i a n s a t R a d y C h i l d r e n’s d i s cove r e d a s t u d y t h a t d e s c r i b e d s e ve n ot h e r c h i l d r e n w h o h ave t h e s a m e m u t a t i o n a s L i s e l – a n d a l l e x h i b i t s i m i l a r s y m p t o m s . S u d d e n l y, h e r m ot h e r r e a l i ze d t h a t t h e r e a r e ot h e r m ot h e r s w i t h w h o m s h e c o u l d c o m p a r e n ot e s o n e ve r y t h i n g f r o m m e d i c a t i o n s t o p ot t y t r a i n i n g . Eve n i f t h e r e’s n o c u r e , t h i s k i n d of n e t wo r k i n g a n d s u p p o r t m e a n s t h e wo r l d t o a family dealing with chronic disease. And it w a s t h e c o m m o n ge n e t i c c o d e t h a t b r o u g h t t h e m t o ge t h e r.

Lisel


GOING

BIG

BRINGS US TO YOU


A f t e r 3 3 ye a r s of s c i e n t i f i c r e s e a r c h a n d wo r k i n g i n a c a d e m i c m e d i c i n e a n d t h e b i ot e c h i n d u s t r y, I c a m e t o R a d y C h i l d r e n’s b e c a u s e of t h e u n i q u e o p p o r t u n i t y t o a d v a n ce c a r e f o r c h i l d r e n t h r o u g h t h e i m p l e m e n t a t i o n of ge n o m i c m e d i c i n e a t s c a l e .

O u r i n s t i t u t e i s e m b e d d e d w i t h i n a n o u t s t a n d i n g c h i l d r e n’s h o s p i t a l t h a t s e r ve s t h e v a s t m a j o r i t y of t h e r e g i o n’s c h i l d r e n , a n d we a r e e n g a ge d w i t h d o c t o r s , h o s p i t a l l e a d e r s a n d s t af f w h o h ave a n a p p e t i t e f o r c h a n g i n g t h e wo r l d . We a r e j o i n e d w i t h t h e i n t e l l e c t u a l f i r e p owe r, s y s t e m s b i o l o g y a n d m a t h e m a t i c a l m o d e l i n g of S a n D i e go’s a r r ay of r e s e a r c h i n s t i t u t e s . A n d we a r e b u i l d i n g a l l i a n ce s w i t h t h e l e a d i n g b i ot e c h c o m p a n i e s a n d r e s e a r c h e r s r i g h t h e r e i n o u r ow n b a c k y a r d .

D e s p i t e t h e s e e n o r m o u s a d v a n t a ge s , i t w i l l t a ke a p r o l o n ge d a n d c o n ce r t e d e f f o r t f r o m e ve r yo n e to s u s t a i n a b l y t r a n s f o r m p e d i a t r i c m e d i c i n e . P a t i e n t s a n d f a m i l i e s aw a i t w i t h n e w f o u n d h o p e t h e s o l u t i o n s t h a t p r e c i s i o n m e d i c i n e c a n p r ov i d e . We a r e l o o k i n g t o o u r c o m m u n i t y to e n g a ge w i t h u s t h r o u g h ge n e r o u s s u p p o r t s o we c a n m a ke t h i s c h a n ge p o s s i b l e f o r t h e s a ke of c h i l d r e n a n d f o r t h e p r i d e of S a n D i e go . W h e n yo u t h i n k of t h e o p p o r t u n i t y to a l l e v i a t e t h e s u f f e r i n g of c h i l d r e n a n d t h e i r f a m i l i e s , i t ’s h a r d t o i m a g i n e a p l a ce w h e r e yo u r g i f t c a n h ave g r e a t e r i m p a c t . C h i l d r e n ge t o n l y o n e c h i l d h o o d . To ge t h e r, we c a n g i ve o u r c h i l d r e n e ve r y o p p o r t u n i t y t o l i ve i t w i t h v i go r !

St e p h e n K i n g s m o r e , M D, D S c . P r e s i d e n t & C EO

R ADY CHILDREN’S INSTITUTE GENOMIC MEDICINE


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Institute for Genomic Medicine  

Institute for Genomic Medicine  

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