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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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