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Presentation transcript:

Thanks to:.gov ||.edu ||.org ||.com || Read = = = = = = = = I/O = = = = = = = Write 1 Information Technolgy Future of Medicine 11:13-11:20 AM 5-Jun-2012 Azco ArmRev.org Oppenheimer Foundation Gen9 LSRF NHGRI NIGMS

22 IT Future of Medicine – Why now? 2008: GINA (HR 493) enables data sharing 2011: Batelle Report: Genome Project ROI to U.S. economy of 140 to : NAS Precision Medicine 2012: Million-fold drop in data costs continues dels.nas.edu/Report/Toward-Precision-Medicine-Building-Knowledge/13284 battelle.org/spotlight/ _genome.aspx

3 US & EU Next-generation technologies  IT 1. Polonator MA 2. Roche-454 CT 3. AB-SOLiD MA 4. Illumina UK,CA 5. CGI CA 6. Helicos MA 7. Pacific Bio CA 8. IntelligentBioSys MA 9. Ion Torrent CT 17. LightSpeed CA 10. Genapsys CA 11. Electronic Biosci CA 12. Nabsys RI 13. OxfordNanopore UK 14. IBM-Roche NY 15. NobleGen MA 16. Genia CA 18. GnuBio MA 19. Bionanomatrix PA 20. Halcyon CA 21. ZS Genetics NH 22. Electron Optica CA 23. Genizon BioSci QC 24. LaserGen TX 25. GE Global NY 26. Stratos Genomics WA 27. Reveo NY 28. Firebird FL 29. Zeiss MA 30. Lucigen WI 31. Adv. Liquid Logic NC 32. Caerus Molec Diag CA Nanophotonics Biosci CA 34. Network Biosystems MA 35. SeiraD NM 36. Affymetrix CA 37. Population Gen Tech UK 38. AQI Sciences AZ 39. Base4innovation UK 40. Li-Cor NE 41. U.S. Genomics MA 42. Mobious Genomics UK 43. Visigen TX 44. Starlight CA

IT & Genomics impacts treatment & approval Nic Volker: not intestinal surgery  cord blood Beery twins: not cerebral palsy  Diet 5HTP Ivacaftor: treat CFTR G551D  3 months in FDA

5 Individually Rare -- Collectively Common (10%) 2641 diseases (~6000 genes) are highly predictive & medically actionable. Next: Education & IT PKU 1991 BRCA 2010 HCM Genetests.org PGEd.org

66 Rare Protective alleles MSTN -/- Lean muscles <0.001% LRP5 -/+ Extra-strong bones % PCSK9 -/+ Lower coronary disease 3, 0.06% CCR5 -/- HIV-resistant (Pox/Plague) ~0, 1% FUT2 -/- Stomach flu resistant 20% Embrace the extremes: informative, easy, powerful blog.personalgenomes.org

7 ITFoM Enviromental Data Microbe tests: Detect Drug resistance spectrum Earlier warning (e.g. meningitis) 2 to 8 hr Immune tests: Focus on response to exposure Longer times to detect exposure (e.g. HIV, TB)

8 Rare (therapeutic) antibodies Broadly reactive antibody … potent neutralization of HIV-1 … unusually long, 28-amino acids (84 bp), CDR3… towers above the antibody surface. Pejchala et al. PNAS 2010 Antibody-based protection against HIV infection by vectored immunoprophylaxis Balazs, Baltimore et al. Nature 2012

99 Precise Genome Therapy: prevent/cure HIV "Long-Term Control of HIV by CCR5 Δ32/Δ32 Stem-Cell Transplantation" 2009 New England J Medicine Sangamo Phase 2 clinical trial

10 New data sources: Personalized organs-on-chip Huh, Ingber et al. Science Trends in Cell Biol neural, blood-brain- barrier, skin, testis

11 Genomes = Traits TRAITS (Phenome) PERSONAL GENOME 3M alleles Testing new technologies Cohorts approved for sharing Personal Genome Project

12 Genomes + Environments = Traits TRAITS (Phenome) PERSONAL GENOME 3M alleles Food Metabolome/Tox Immunome Epigenome RNA,mC Proteome Personal Genome Project Microbiome Therapies Immunome 4D-Imaging Stem-cells Cancer Testing new technologies: Cohorts approved for sharing