Transcript Genomics and the Human Condition Francis S. Collins

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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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
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
Glazier 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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First
2008
2007 second
quarter
third
quarter
2006
2005
2007quarter
fourth
quarter
first
quarter
Second
quarter
2008
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Manolio, Brooks, Collins, J. Clin. Invest., May 2008
http://cancergenome.nih.gov
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What will be the impact
of genomics on the
practice of medicine?
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Disease with Genetic Component
Identify Genetic Risk Factors
Accelerated
by Human
Genome Project
and HapMap
Diagnostics
Preventive
Medicine
Time
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Uterine
Cancer
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Colon
Cancer
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Colon
Cancer
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Saving lives with genetic testing
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Disease with Genetic Component
Identify Genetic Risk Factors
Accelerated
by Human
Genome Project
and HapMap
Diagnostics
Pharmacogenomics
Preventive
Medicine
Time
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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
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Disease with Genetic Component
Identify Genetic Risk Factors
Accelerated
by Human
Genome Project
and HapMap
Diagnostics
Pharmacogenomics
Preventive
Medicine
Time
Therapeutic
Developments
• Gene Therapy
• Drug Therapy
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Gleevec™ – Specifically Targets an Abnormal Protein,
Blocking Its Ability to Cause Chronic Myeloid Leukemia
Leukemia arises in mutated blood cell
Leukemia Protein
Leukemia Protein
Gleevec™
Leukemia
Remission
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