1. 1 Genomics and the Human Condition Francis S. Collins, M.D., Ph.D. Dedication of Ken Olsen Science Center Gordon College September 27, 2008

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5. 5 A SMALL SAMPLING OF COOL THINGS ABOUT THE GENOME Humans have fewer protein-coding genes than expected – only about 20,000 Only about 1.5% of the human genome is involved in coding for protein, but there are numerous complex critical functions encoded in the rest of the DNA instruction book We are all >99% the same at the DNA level

6. 6 Cystic fibrosisAdult onset diabetesAIDS

7. 7 Glazier et al., Science 298:2345-9, 2002 

8. 8 The candidate gene approach

9. 9 The Genome Wide Association approach: Making every gene in the genome a candidate

10. 10 2005 20062007 first quarter 2007 second quarter 2007 third quarter 2007 fourth quarter First quarter 2008 Second quarter 2008 Manolio, Brooks, Collins, J. Clin. Invest., May 2008

11. 11 http://cancergenome.nih.gov

12. 12 What will be the impact of genomics on the practice of medicine?

13. 13 Diagnostics Preventive Medicine Disease with Genetic Component Time Accelerated by Human Genome Project and HapMap Identify Genetic Risk Factors

14. 14 Saving lives with genetic testing Uterine Cancer 48 Uterine Cancer 48 Colon Cancer 51 Colon Cancer 51 Colon Cancer 56 Colon Cancer 56

15. 15 Diagnostics Preventive Medicine Disease with Genetic Component Time Accelerated by Human Genome Project and HapMap Identify Genetic Risk Factors Pharmacogenomics

16. 16 Pharmacogenomics: Unlocking the Human Genome for Better Drug Therapy McLeod & Evans, Ann Rev Pharmacol Toxicol 41:101-21, 2001 All patients with same diagnosis Treat Remove No response Toxic response Responses without toxic side effects

17. 17 Diagnostics Therapeutic Developments Gene Therapy Drug Therapy Preventive Medicine Disease with Genetic Component Time Accelerated by Human Genome Project and HapMap Identify Genetic Risk Factors Pharmacogenomics

18. 18 Gleevec™ – Specifically Targets an Abnormal Protein, Blocking Its Ability to Cause Chronic Myeloid Leukemia Leukemia Leukemia Protein Gleevec™ Leukemia Protein Remission Leukemia arises in mutated blood cell

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