Genetic Markers Associated with Autism and MS Investigated

It is expected that the resulting information will provide investigators with greater understanding of these diseases, enable more effective use of existing treatments, and development of novel molecular diagnostics and therapies.

Scientists led by Mark Leppert, Ph.D., professor and co-chair of the department of human genetics at the University of Utah (Salt Lake City, UT, USA) are using Affymetrix (Santa Clara, CA, USA) technology and LineaGen's (Salt Lake City, UT, USA) business expertise to generate and analyze genetic information from large multiplex Utah pedigrees, with corresponding decades' worth of longitudinal clinical data.

The Affymetrix Genome-Wide Human single nucleotide polymorphisms (SNP) Array 6.0 will be used to discover the genetic markers. The Affymetrix Genome-Wide Human SNP Array 6.0 features more than 1.8 million markers for genetic variation, including more than 906,600 SNPs and more than 946,000 probes for the detection of copy number variation. The SNP Array 6.0 enables high-performance, high-powered, and low-cost genotyping. The Affymetrix arrays will be run in the lab of Shawn Levy, Ph.D., director of the Vanderbilt Microarray Shared Resource at Vanderbilt University Medical Center (Nashville, TN, USA).

"We chose the Affymetrix SNP Array 6.0 because of its comprehensive genetic content, and its ability to analyze both SNP and copy number variations,” said Dr. Leppert. "We have a valuable and unique genetic population resource at the University of Utah and now we can cost-effectively conduct larger-scale studies to determine the genetic associations of common diseases like MS [multiple sclerosis] and autism.”

The project is being managed and funded by LineaGen, a content-based biomarker discovery company focused on commercializing novel, patentable diagnostic tests that will lead to personalized healthcare regimens.

"The most important metric of a whole-genome association study is the genetic power,” said Kevin King, president of Affymetrix. "The Affymetrix SNP Array 6.0 is the platform for genetic breakthroughs because it combines comprehensive genetic coverage and a cost-effective price per sample. Customers like the University of Utah, Vanderbilt University, and LineaGen are now able to perform higher-powered studies than ever before on diseases that affect millions of people around the world.”


Related Links:
University of Utah
Affymetrix
LineaGen