Rare Genetic Mutations May Underpin Diseases - NYT

May 18, 2012

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Many Rare Mutations May Underpin Diseases

By NICHOLAS WADE

The task of finding the genetic roots of common disease seems much

harder, dimming the promise of personal genomics and the chances of

quick medical payoffs from the human genome project, given new data

about the human genome in two reports published online in the journal

Science on Thursday.

It now appears that large numbers of very rare genetic mutations may

underlie common human diseases like schizophrenia and cancer. But

because the mutations are so rare, costly studies involving large

numbers of patients would be needed to identify their role in each disease.

Until recently, rare mutations have been hard to catalog because of the

difficulty of distinguishing an unusual mutation from an error in the

DNA decoding process.

Now, however, a new generation of decoding machines allows each DNA unit

in a genome to be examined 20 or more times, eliminating most errors.

The two reports in Science are particularly extensive surveys which

establish that rare mutations are abundant in the human genome. Since

most are likely to be deleterious, rare mutations could account for much

of the burden of human disease, the authors say.

One of the surveys

conducted by A. Tennessen and M. Akey of the University of

Washington in Seattle and colleagues, the other

a team led by R. and Mooser of GlaxoKline....

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