1. Open Society and Genomics-Enabled Personalized Medicine Tom Curran Deputy Scientific Director Children’s Hospital of Philadelphia GENES US The Impact of Genomics on Childhood Disease
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3. Genes Provide Each Child with Potential that is Shaped by their Environment
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6. DNA RNA Protein genes make RNA which make proteins What do Genes do?
21. Do it 1 million times and you have a genome chip!
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23. Autism Diabetes Cancer Blindness Genome Chips on more than 70,000 children at CHOP discovered genes contributing to… Dr. Hakon Hakonarson, CHOP Dr. Struan Grant, CHOP
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25. Lancelot Leber Congenital Amaurosis A rare form of blindness caused by a gene mutation. Gene therapy can restore the normal gene back into eye cells. Affects dogs and humans. Lancelot was the first to be treated. Curing Blindness by Gene Therapy
26. Light Retina cells Inject a corrected version of the mutant gene directly into the retinal cells that don’t work
27. Dr. Jean Bennet, U Penn Dr. Al Maguire, U Penn Dr. Kathy High, CHOP Seeing Lancelot for the first time
33. Taylor never had to go into a bubble- his blood system came from his Mom Dr. Alan Flake, CHOP Preventing Boy-in-the-Bubble disease: Lethal Genetic Disorder - XSCID 14 yo healthy male No hospitalizations No serious infections
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35. Mutation 1 : 3,000,000,000 error Dr. John Maris, CHOP Dr. Yael Mosse, CHOP Drug already developed for adult leukemia now in clinical trial for Neuroblastoma Mutation discovered in 2008
36. Cancers that look the same… ..may have different mutations and they may need different treatments
37. Cancer Targets identified on a Gene CHIP 1 50 Cancers Genes 1 25,000 30% of Medulloblastoma patients match the profile
40. Works 100% of the time in mice Clinical trial in children starts in 2009 GDC-0449 in Treating Young Patients With Medulloblastoma That is Recurrent or Did Not Respond to Previous Treatment
