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New NIH-funded resource focuses on use of genomic variants in medical care
Date:9/25/2013

robust with data from the ClinGen effort," said NCBI Director David J. Lipman, M.D. "This comprehensive information will be a valuable resource to disease researchers and clinicians."

It is difficult to determine the roles of variants in common complex diseases, such as heart disease and diabetes, where dozens of variants may be involved, each usually having a small effect. The resource's investigators will focus first on variants underlying certain forms of cancer, cardiovascular disease, and metabolic disorders, where having the variant usually results in getting the disease.

Many groups have their own protocols for assessing whether the genomic variants they have identified are clinically relevant, said Erin M. Ramos, Ph.D., program director in the NHGRI Division of Genomic Medicine. "We have to agree on what evidence is needed to decide whether the effects of a variant are medically relevant, and to make that evidence available to the public as well as the research and clinical communities," she said.

"There are about 2,000 separate databases on specific genes and diseases," said Lisa D. Brooks, Ph.D., director of the Genetic Variation Program in the NHGRI Division of Genome Sciences. "We expect that this central effort partnered with ClinVar will make this information more easily available and widely used."

The following groups are receiving grants (pending available funds after year one):

  • Heidi L. Rehm, Ph.D., Brigham and Women's Hospital, Boston; David H. Ledbetter, Ph.D., and Christa L. Martin, Ph.D., Geisinger Health System, Danville, Pa.; Joyce A. Mitchell, Ph.D., University of Utah, Salt Lake City; and Robert L. Nussbaum, M.D., University of California, San Francisco

    $8.25 million over three years

    This group will develop standard formats for gathering and depositing data into ClinVar. It will work with clinical laboratories and with specific gene databases to obtain many data sets on genomic variants an
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Contact: Steven Benowitz
steven.benowitz@nih.gov
301-451-8325
NIH/National Human Genome Research Institute
Source:Eurekalert

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