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Perlegen's Contribution to Phase 2 HapMap of Human Genetic Variation Empowers Scientists Studying Common Diseases

Posted on: Wednesday, 17 October 2007, 15:00 CDT

The six-country International HapMap Consortium today made available to the public its second-generation map of human genetic variation. This new map contains three times the number of markers unveiled in the initial version, released in 2005.

The Consortium noted that this unprecedented research tool "relied heavily on the high-throughput genotyping capacity of Perlegen Sciences, Inc., of Mountain View, Calif. The firm tested virtually the entire known catalog of human SNP [Single Nucleotide Polymorphism] variation on the HapMap samples, as well as contributed some of its own resources to make the map possible."

Commenting on today's announcement, Perlegen's Chief Scientific Officer, David Cox, M.D., Ph.D., noted, "The Phase 2 HapMap, with more than 3.1 million genetic variants, provides researchers worldwide with a powerful tool to better tackle the genetic contributions to common disease predisposition, disease progression and drug response. All of us on the Perlegen team are enormously proud of the role we were able to play in bringing this undertaking to its successful conclusion."

In addition, Perlegen's public genome browser at genome.perlegen.com has been updated to integrate SNP data from the latest release of the Phase 2 HapMap with data for the 1.6 million SNPs released by Perlegen in 2005, as well as reference data for 600,000 SNPs generated for the Genetic Association Information Network (GAIN). GAIN is a public-private partnership seeking to understand genetic factors influencing risk for complex diseases. Members of GAIN include the National Institutes of Health (NIH), Pfizer, Affymetrix, Perlegen Sciences, Abbott, the Foundation for the National Institutes of Health, and the Eli and Edythe Broad Institute (of MIT and Harvard University). The updated browser now includes data for a total of 4.3 million unique SNPs, and will facilitate interpretation of results of GAIN studies of disease outcomes in the context of the broader Perlegen and HapMap surveys of genetic variation.

Commenting in today's press release from the Consortium, NHGRI Director Francis S. Collins, M.D., Ph.D. stated, "Thanks to this consortium's pioneering efforts to map human genetic variation, we are already seeing a windfall of results that are shedding new light on the complex genetics of common diseases...This new approach to research, called genome-wide association studies, has recently uncovered new clues to the genetic factors involved in type 2 diabetes, cardiovascular disease, prostate cancer, multiple sclerosis and many other disorders. These results have opened up new avenues of research, taking us to places we had not imagined in our search for better ways to diagnose, treat and prevent disease."

About Perlegen Sciences

Perlegen's mission is to discover and commercialize genetic variations that can make a difference to patients and physicians. The company's expertise is in understanding human genetic variation within and across diverse patient populations and in conducting studies aimed at identifying those variations that are predictive of drug response, both toxicity and efficacy. For more information about the company and its technologies, visit Perlegen's website at www.perlegen.com.

Source: Business Wire

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