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Genomics and the Human Condition

Explore the transformative impact of genomics on medical practice, including genetic risk factors, diagnostics, preventive medicine, pharmacogenomics, and treatment developments. Learn how the Human Genome Project accelerates personalized care.

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Genomics and the Human Condition

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

  2. 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

  3. Cystic fibrosis Adult onset diabetes AIDS

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

  5. The candidate gene approach

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

  7. 2007 second quarter 2007 third quarter 2007 fourth quarter 2005 2007 first quarter First quarter 2008 2006 Second quarter 2008 Manolio, Brooks, Collins, J. Clin. Invest., May 2008

  8. http://cancergenome.nih.gov

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

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

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

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

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

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

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

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