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NIH Announces $25m Grants to Develop Framework for Evaluating Genetic Variants


By Bio-IT World Staff 
 
September 25, 2013 | The National Institutes of Health just announced three grants totaling more than $25 million over four years to help three research groups develop authoritative information on the millions of genomic variants relevant to human disease and the hundreds that are expected to be useful for clinical practice. 
 
The grants will support a consortium of research groups to develop the Clinical Genome Resource (ClinGen). The groups include: 
 
  • 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
  • Jonathan S. Berg, M.D., Ph.D, and James P. Evans, M.D., Ph.D, University of North Carolina, Chapel Hill; David H. Ledbetter, Ph.D., Geisinger Health System; and Michael S. Watson, Ph.D., American College of Medical Genetics and Genomics, Bethesda, Md.: $8.4 million over four years
  • Carlos D. Bustamante, Ph.D., Stanford University, Palo Alto, Calif.; and Sharon E. Plon, M.D., Ph.D., Baylor College of Medicine, Houston: $8.4 million over four years
 
The investigators will design and implement a framework for evaluating which variants play a role in disease and those that are relevant to patient care, and will work closely with the National Center for Biotechnology Information (NCBI) of the National Library of Medicine (NLM), which will distribute this information through its ClinVar database. The grants are funded by the National Human Genome Research Institute (NHGRI) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which, along with NCBI and NLM, are part of NIH. ClinGen was developed from NHGRI’s Clinically Relevant Variants Resource program. 
 
“With the genomic advances being witnessed every week, this resource should help in developing effective systems that will allow doctors to understand the role of genomic variants in disease and to use genomic information about their patients to improve their care,” said NHGRI Director Eric D. Green, in a press release. 
 
“We are excited about the opportunity to make the ClinVar database on variants and disease more robust with data from the ClinGen effort,” said NCBI Director David J. Lipman, in a statement. “This comprehensive information will be a valuable resource to disease researchers and clinicians.”
 
The projects cover a range on areas. Heidi L. Rehm’s 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 and disease associations. It will also develop standards to analyze variants and determine whether they are potentially disease-causing and medically useful. These researchers have formed the International Collaboration for Clinical Genomics to foster these efforts.
 
Jonathan Berg’s group will define categories of clinical relevance for variants. It will organize clinical working groups with experts in molecular genetics, cancer, cardiovascular disease, and other areas to focus on evaluating variants for clinical relevance. It will also study ways to integrate this information into electronic health records.
 
Carlos Bustamante’s team will use computational and informatics tools and databases to determine which genomic variants have strong evidence for being associated with disease risk and will prioritize the variants for further study. It will also develop and apply computing methods to process variants more quickly than currently possible. In addition, researchers will improve the predictions of which variants are associated with disease risk in non-white populations. The team will coordinate with ClinVar to disseminate ClinGen’s information through public websites.
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