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HapMap: A Genomic Guide to Disease

In October 2005, scientists in Cambridge, MA and Oxford, U.K. published the first draft of the HapMap, a database of human genetic variation. The map should radically improve scientists’ ability to discover genes involved in cancer, diabetes, and a host of other diseases (see A New Map for Health, November 7).

The massive project, which catalogues more than three million points of genetic variation based on samples from 269 people, also involved advances in technology. The cost of identifying one single nucleotide polymorphism (SNP) dropped from almost a dollar in 2002 to less than one cent in 2005, and efficiency also increased, from hundreds of SNPs identified per day to millions.

The HapMap is expected to help identify genetic markers that predict which individuals will respond to certain drugs. That information could resolve part of the controversy surrounding BiDil, a heart drug approved by the Food and Drug Administration in June that carries the first race-specific prescription guidelines. Critics of the drug have questioned if race is a good proxy for the genetic variations that most likely underlie an individual’s response to the drug (see Race and Medicine, April). “The best we could do in 2005 was use self-reported race; but I hope more and more we’ll have genetic markers instead of phenotypic markers,” says Dr. Steve Nissen, a cardiologist at the Cleveland Clinic in Cleveland, who chaired the FDA advisory panel on BiDil.

A Roller Coaster Ride for Stem Cell Research

This year brought a series of promising highs – and terrible lows – for the field of stem cell research. U.S. researchers continued to struggle with federal funding limitations. Scientists were forced to set up parallel research spaces to their federally supported labs to work on new stem cell lines and to find new funding sources to continue their work (see Braving Medicine’s Frontier, September).

In an attempt to circumvent some of the funding problems and ethical objections that have plagued human embryonic stem cell research, which requires the use of discarded human embryos, two Massachusetts scientists developed new techniques to create the cells. Both techniques eliminated the destruction of human embryos normally required to generate stem cells; however, many conservative ethicists still weren’t satisfied (see A More Moral Stem Cell?, October 18).

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Tagged: Biomedicine

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