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Genome sequencing turns to another target: patients with genetic diseases

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Two research teams have completely sequenced the genomes of people who suffer from genetic disease -- and have come to a surprising twist in our understanding of how it's caused.

Nearly a dozen genomes of people of all shapes and sizes have been decoded, but until now, they've all had one thing in common: they were healthy.

Now, two independent research teams have completely sequenced the genomes of people who suffer from genetic disease.

In the first, Baylor College of Medicine's Richard Gibbs sequenced the entire genome of his colleague James Lupski, a medical geneticist who carries the genes for Charcot-Marie-Tooth disease, a nerve disorder.

In the second, Leroy Hood and David Galas of Seattle's Institute for Systems Biology decoded the genomes of two children (and their parents) who carry two rare genetic diseases.

All three diseases are caused by single, rare mutations in a gene. More common diseases such as cancer are thought to be caused by mutations in several genes.

What the researchers discovered is that, in a surprising twist, the mutations that cause common diseases are not themselves common.

That goes entirely against the approach scientists have taken toward genetic diseases until now.

Instead, their findings suggest that fully sequencing genomes may instead help researchers explore the roots of common, multi-gene diseases -- and in the case of the family genomes that were sequenced, improving the accuracy of the decoding process.

The teams' work was published in the New England Journal of Medicine and the journal Science, respectively.

Related coverage on SmartPlanet:

[via New York Times]

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Andrew Nusca

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Andrew Nusca is editor of SmartPlanet and an associate editor for ZDNet. Previously, he worked at Money, Men's Vogue and Popular Mechanics magazines. He holds degrees from the Columbia University Graduate School of Journalism and New York University. He is based in New York but resides in Philadelphia. Follow him on Twitter. Disclosure