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Human genetic variation -- Science's 'Breakthrough of the Year'
Date:12/20/2007

This release is available in French and Japanese, and Spanish.

In 2007, researchers were dazzled by the degree to which genomes differ from one human to another and began to understand the role of these variations in disease and personal traits. Science and its publisher, AAAS, the nonprofit science society, recognize Human Genetic Variation as the Breakthrough of the Year, and identify nine other of the years most significant scientific accomplishments in the 21 December issue.

For years we've been hearing about how similar people are to one another and even to other apes, said Robert Coontz, deputy news editor for physical sciences who managed the selection process. In 2007, advances on several fronts drove home for the first time how much DNA differs from person to person, too. Its a huge conceptual leap that will affect everything from how doctors treat diseases to how we see ourselves and protect our privacy.

The genomes of several individuals have already been sequenced. As technologies advance, many of us will have some, perhaps all, of our own genomes sequenced and will be able to learn the diseases for which we are at risk.

Since the sequencing of the human genome, biologists have been charting minute variations as small as one base, called single-nucleotide polymorphisms (SNPs). These variations were key to a dozen research projects in 2007 called genome-wide association studies in which researchers compared the DNA of thousands of individuals with and without a disease to determine which small genetic variants pose risks. This information can help lead researchers to disease-related genes, as in the case of several type 2 diabetes genes found this year.

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Contact: Natashal Pinol
npinol@aaas.org
202-326-7088
American Association for the Advancement of Science
Source:Eurekalert

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