1 genomics and the human condition francis s. collins, m.d., ph.d. dedication of ken olsen science...
TRANSCRIPT
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Genomics and theHuman Condition
Francis S. Collins, M.D., Ph.D.
Dedication of Ken Olsen Science CenterGordon College
September 27, 2008
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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
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Cystic fibrosis Adult onset diabetes AIDS
7Glazier et al., Science 298:2345-9, 2002
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The candidate gene approach
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The Genome Wide Association approach:Making every gene in the genome a candidate
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200520062007 first quarter2007 second quarter2007 third quarter2007 fourth quarterFirst quarter 2008 Second quarter 2008
Manolio, Brooks, Collins, J. Clin. Invest., May 2008
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http://cancergenome.nih.gov
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What will be the impact of genomics on the
practice of medicine?
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Diagnostics
Preventive Medicine
Disease with Genetic Component
Time
Accelerated by Human
Genome Projectand HapMap
Identify Genetic Risk Factors
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Saving lives with genetic testingSaving lives with genetic testing
UterineCancer
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UterineCancer
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ColonCancer
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ColonCancer
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ColonCancer
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ColonCancer
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Diagnostics
Preventive Medicine
Disease with Genetic Component
Time
Accelerated by Human
Genome Projectand HapMap
Identify Genetic Risk Factors
Pharmacogenomics
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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
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Diagnostics
TherapeuticDevelopments• Gene Therapy • Drug Therapy
Preventive Medicine
Disease with Genetic Component
Time
Accelerated by Human
Genome Projectand HapMap
Identify Genetic Risk Factors
Pharmacogenomics
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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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