Rare DNA Mutations Raise Question Theories Of Disease

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http://www.bloomberg.com/news/2012-05-18/rare-dna-mutations-raise-question-theories-of-disease.html

Rare DNA mutations are so plentiful in the human genome that they make it difficult to precisely identify the genetic switches that cause many common human diseases, two studies found.

The data, released yesterday in the journal Science, shows that the vast majority of genetic variations found in people are rare and evolutionarily recent. Well-known DNA variations that are common across large populations probably don’t widely affect many illnesses, the authors said.

The research means it may be more difficult to isolate the roots of ailments such as diabetes and heart disease, and cures will be more elusive, said Joshua Akey, associate professor of genome sciences at the University of Washington in Seattle and an author of the study.

“The task of correlating individual variants with particular diseases is probably more complicated than we would have anticipated a few years ago,” Akey said in an interview. “It’s exciting because we’re starting to see patterns of variation we were never able to access before because the technology wasn’t there, and it’s frustrating because we don’t know what it means.”