Epistasis Blog

From the Artificial Intelligence Innovation Lab at Cedars-Sinai Medical Center (www.epistasis.org)

Thursday, March 11, 2010

Disease Cause Is Pinpointed With Genome

A recent New York Times article discusses the recent successes with using deep sequencing for rare Mendelian diseases. This is clearly a success. However, those pushing this technology significantly overstate the potential for common human diseases. For example, David Goldstein is quoted as saying “We are finally about to turn the corner, and I suspect that in the next few years human genetics will finally begin to systematically deliver clinically meaningful findings”. Have we not learned the lessons from the past? This the same hype that came with the human genome project, the HapMap project and with GWAS. Technology will not alone solve these problems. We need a fundamental shift in how we think about the compexity of the genetic architecture of common human diseases.


At 10:38 AM, Anonymous Anonymous said...

Exactly, Dr. Moore. How long before the one-dimensional genome paradigm shifts?

At 3:21 PM, Blogger PeterVermont said...

The article says: "The finding implies that common diseases, surprisingly, are caused by rare, not common, mutations."

The finding does not necessarily imply that at all. Couldn't it imply that the diseases are caused largely by environmental, rather than genetic, causes?


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