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PGFI 2009 Franklin Curran




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  • 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
  • 2.  
  • 3. Genes Provide Each Child with Potential that is Shaped by their Environment
  • 4.  
  • 5. The Human Genome
    • Each person has about 100 trillion cells each containing a complete DNA copy of the genome
    • DNA is packed into 46 human chromosomes
    • The Human Genome comprises about 25,000 genes
    • Genes consist of a specific DNA sequence
    • A total of 3 billion base pairs are wrapped up tightly in every cell
    • “ Genomics ” is the scientific study of the whole genome
  • 6. DNA RNA Protein genes make RNA which make proteins What do Genes do?
  • 7. … and proteins make people
  • 8.  
  • 9.  
  • 10.  
  • 11.  
  • 12. DNA: The Double Helix A T C G We differ in only 10 million base pairs out of 3 billion (99.7% identical)
  • 13. Analyzing the Genome: DNA is like a zipper
  • 14. Making a gene chip
  • 15. Glue little pieces of DNA onto glass
  • 16. Many times
  • 17. Link a light bulb to small pieces of DNA
  • 18. Let them zip up
  • 19. Let them zip up
  • 20. Turn out the lights
  • 21. Do it 1 million times and you have a genome chip!
  • 22.  
  • 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
  • 24. The DNA sequence of the Human Genome: A Rosetta Stone for Medicine
    • Predicts risk of disease
    • Identifies carriers
    • Matches therapy to patient
    • Uncovers cause of disease
    • Offers new treatments
    Let me give some examples of the impact of Genomics on children
  • 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
  • 28. Preventing Sickle Cell Anemia
  • 29. Sickle Cell Anemia
    • One of the most common blood diseases
    • Almost exclusively in African-Americans
    • Genetic disease
  • 30. Sickle Cell Anemia
  • 31. Genetic screen then In Utero Transplant fools the fetus to accept Mom’s bone marrow Ultrasound guided injection 12 to 14 weeks Gestation
  • 32. In Utero Transplantation
  • 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
  • 34.
    • Cancer is Caused by Gene Mutations
  • 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
  • 38. New Brain Tumor Drug Based on Plant Toxin
  • 39. No treatment Drug given twice daily by mouth for two weeks
  • 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
  • 41.
    • Gene therapy for genetic disorders
    • Early diagnosis and prevention
    • Match pediatric disease to existing adult therapies
    • Identify new gene targets and develop novel drugs
    Expensive, takes time, specialized research, collect lots of information on many children, large number of therapies for each disease affecting limited population. GenesRUs: Personalized Medicine for Children R