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Decoding Disease

A lanky Virginian, Collins earned a doctorate in chemistry at Yale and his M.D. at the University of North Carolina. He became a dedicated hunter of disease genes as a faculty member at the University of Michigan. Since 1993 he has worked at the epicenter of the genomic revolution, on the leafy NIH campus in Bethesda, Md. The National Human Genome Research Institute is tucked into a suite of beige-colored offices that look more like a dentist’s practice than the headquarters of a world-renowned research center. From here, Collins, who led a team that found the gene for Huntington’s and the gene for cystic fibrosis, oversees 500 scientists on the NIH campus and others at universities.

“Our best hope for curing diseases comes out of genomics,” Collins says, because it points to the problem of disease at the molecular level, rather than at symptoms or secondary effects.

Genomic discoveries are already pointing the way to new drugs that disrupt processes at the molecular level and to tests that predict one’s risk for a disease.

The research is also opening the way for a new “personalized medicine” that allows doctors to test a patient to determine which drugs will work most effectively with the patient’s genetic makeup. Last year the Food and Drug Administration recommended genetic tests for patients taking the blood thinner warfarin (also sold as Coumadin, Jantoven, Marevan and Waran) to help doctors prescribe the right dosages.

Studies show that 40 percent of those who take the drug have genetic variations that make them more sensitive to its effects and so need smaller doses. The genetic test can identify those at risk for bleeding complications from the drug.

“Soon, this kind of testing will be happening for asthma medications, antidepressants and cholesterol-lowering statins,” Collins says. “We should be able to do better with genetic evaluations of these drugs within three to four years.

“And boy, do we need more of this,” says Collins, who in September will be given the Andrus Award, AARP’s highest honor, for his contributions to science.

“Most of the time you go to the doctor, and the drug you’re given is one we arrived at empirically—we tried something and it seemed to work,” he says. “It’s one-size-fits-all medicine, and that’s not ideal. Now, with the genome, we have a whole new paradigm. It’s very exciting.”

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