Scientists Create New Gene Map

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In work funded by the National Human Genome Research Institute, a global team of scientists has created a genetic map called the HapMap. Researchers hope it will help them track down the genes for a variety of illnesses, from cancer to Alzheimer's.


Scientists have a powerful new tool in the search for genes that cause disease. It's a kind of map that identifies places on a chromosome where disease genes are most likely to be found. This work was funded by the National Human Genome Research Institute. It's director, Frances Collins, spoke to NPR's Joe Palca.

JOE PALCA reporting:

The new map is called the HapMap, and Collins admits that name doesn't tell you very much.

Mr. FRANCES COLLINS (Director, National Human Genome Research Institute): We geneticists have an amazing ability to obscure what we're doing with terminology that nobody but a scientist could love. And I guess we've done it again with this word haplotype and with its extension into this project called the Haplotype Map Consortium or just plain HapMap. But let me explain. This is all about that variable part of your DNA, not the 99.9 percent that's the same as mine, but the .1 percent where people differ. And we're really interested in that because that carries within it the clues of why diseases run in families, why some people might be at risk for diabetes and others for heart disease and others for cancer. That's all in that .1 percent. And that a giant leap forward in our understanding of what that variable part looks like and especially how it's organized in the neighborhoods on chromosomes.

PALCA: Collins says instead of searching through the entire three billion letters of DNA that make up the human genome, HapMap lets researchers ignore large portions of DNA where a disease gene just can't be and zoom in on the neighborhoods where a gene of interest is most likely to reside. Even though the HapMap was officially unveiled yesterday at a meeting of geneticists in Salt Lake City, Collins says it's already being used by scientists around the world.

Mr. COLLINS: The HapMap scientists who came from six countries and labored long and hard over the last three years to do this project agreed from the outset that they would put all the data up on the Web as soon as it was generated, just as we had with the genome project. So people started using HapMap before today because they had the chance to do so with all of this free information. So six months ago, a group at Yale utilizing the information studied a disease called macular degeneration which is the most common cause of blindness in elderly people. Frankly, as a physician myself, that was not one of the diseases that I thought was going to turn out to be all that easy to study 'cause it didn't seem all that hereditary. But with a surprisingly small number of cases, less than 100, and comparing them to controls, people who didn't have this kind of blindness, they used the HapMap to zero in on a particular variant in a particular gene. And it's got another one of those names, compliment factor H, but it turns out that's a really interesting gene to be involved in this disease because it plays a role in inflammation. Who knew that this eye disease had anything to do with inflammation? Well, now we know, and that has already suggested a host of new ideas about how to approach prevention and treatment.

PALCA: Collins says there are now more than a hundred projects sponsored by the National Institutes of Health that will use the HapMap to look for genes associated with diseases ranging from Alzheimer's to asthma.

Mr. COLLINS: That's why people should expect that in the course of the next months and maybe a couple of years, there's going to be an outpouring of discoveries about genes that play a role in common disease.

PALCA: Full details of the HapMap appear in today's issue of the journal Nature. Joe Palca, NPR News, Washington.

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