I N SCIENCE, REVOLUTIONS ALMOST ALWAYS TAKE LONGER than their instigators expect----- we’re still waiting for our flying cars so when National Institutes of Health director Dr. Elias Zerhouni says that “over the next five years, we’re going to discover the most important genes that arc associated with the most important diseases, its easy to be skeptical. But the project that may make that possible is way ahead of schedule.

Scientists compiling the HapMap, a database of small but significant points in the human genome called SNPs that vary from person to person, were supposed to have announced last week that they had catalogued 1 million SNPs. But they made that announcement eight months ago . By the time their original deadline for the three-year project arrived, they had analyzed almost four times that main; prompting Secretary of Health Mike Leavitt to nearly lose his breath calling the project “a profound step forward,” “a triumph for collaborative science” and “a landmark achievement.”

The reason for all the excitement is simple, even if the science behind it isn’t: the HapMap may finally usher in the era of preventive medicine that (doctors have been anticipating ever since the discovery of DNAs structure. The highly variable SNPs, which make up about .1 percent of the genome, can signal susceptibility to various diseases. They tend to travel in packs, so they’re always inherited in tandem.

The HapMap essentially tells scientists which SNPs travel together, reducing the work scientists have to do in order to pin the blame for diseases on particular genes. For a given disease, researchers can compare the SNPs of a group of afflicted patients with the SNPs of a healthy group. Finding a particularly prominent type of SNP in ailing patients would tell a scientist that the SNP was either causing the problem or stuck on the same chunk of DNA as the deleterious gene. In the latter ease, scientists would quickly know where to look for the culprit. With the bad genes identified, they could tailor treatments to their patients genetic profiles—even warding off diseases in advance.

Zerhouni hopes that doctors using the HapMap will find genes linked to obesity in the next few years, and almost all of the country’s other most pervasive health problems are also on the scientific radar. Take macular degeneration: for people who suffer from this common cause of blindness, the future is already here. In April, researchers using an early draft of the HapMap data announced that they had found a gene responsible for 40 percent of cases of the disease, opening the door for new drugs to be developed. “The HapMap really helped us,” says Yale researcher Josephine Hoh, who led the team. Without the data, she says, her lab would have had to do at least four times the work it did. The project, Zcrhouni says, was “the prototype of medicine of the future.”

The near future, at that: projects focusing on hypertension, diabetes and heart disease are  already underway. Francis Collins, director of the National Human Genorne Research Institute, says we’ll start seeing the “low-hanging fruit” of the research in the next two months. And if the HapMap itself got finished faster than anyone expected, the individual disease projects may even outdo it. Since the HapMap’s initiation three years ago, the price of analyzing a single SNP has fallen from 50 cents to less than a penny, so more labs can participate.

New technology has sped up the process, too. “A lot of people have spent the last 10 or 20 years waiting for this moment .....[but] most of them didn’t think it would come this soon’ says Collins. “The pace has been unbelievable.” Believe it.

                                                                                  ----MARY CARMICHAEL




November 7, 2005. (Pg. 12)

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