Genome Institute to Fund Research on Rare Diseases, Medical Care

(Genome.gov)

Funding announced by the National Human Genome Research Institute (NHGRI), part of National Institutes of Health, will support new research on rare inherited diseases, informatics tools, and use of genomic data in medical care delivery. The four-year, $416 million plan also continues funding for current initiatives on large-scale genomic sequencing production.

NHGRI plans to award a total of $40 million — with an additional $8 million from National Heart, Lung, and Blood Institute — for research on rare inherited diseases, such as cystic fibrosis and muscular dystrophy. The studies will also cover less well-known disorders with genetic causes, where only a small fraction, about one in 10, now have treatments.

Recipients of these grants will be genetic disease research centers at University of Washington in Seattle, Yale University in New Haven, Connecticut, and the Baylor-Johns Hopkins Center for Mendelian Genetics in Houston and Baltimore.

A second part of the plan focuses on the application of genomic science to medical care, for which NHGRI will invest $40 million over four years. The funding will cover research at five exploratory clinical projects, where teams will investigate ways in which health care professionals can use genomic sequencing information in a medical care setting.

The studies will also address questions on incorporating genomic data into medical records, tools needed to extract relevant information from a patient’s genome sequence, and the effect of genome sequence data on a physician’s recommendations regarding treatment.

Grant recipients include Baylor College of Medicine in Houston, Brigham and Women’s Hospital in Boston, Children’s Hospital of Philadelphia, University of North Carolina in Chapel Hill, and University of Washington in Seattle. National Cancer Institute is adding $2 million to the awards for Baylor College of Medicine and University of Washington.

Another new initiative in NHGRI’s funding addresses the need for better software to support high-throughput sequencing data analysis to help researchers outside of the large genomic research centers. Data analysis has become a particular challenge, says NHGRI, with most analytic tools with sequencing that require sophisticated or expert skills to install and use.

NHGRI expects to invest nearly $20 million over four years for further development of existing software to make it more accessible and easier for investigators to analyze genomic sequence data. This program will use various funding mechanisms, including cooperative agreements and Small Business Innovation Research grants, with awards made early in 2012.

The largest share of the funding plans will continue support for large genome sequencing centers at the Broad Institute in Cambridge, Massachusetts, Washington University in St. Louis, and Baylor College of Medicine in Houston. The $86 million will fund ongoing basic research into workings of the human genome, studies on the genetic contributions to common complex illnesses such as diabetes and heart disease, and ongoing special projects such as The Cancer Genome Atlas.

Read more: Grants Awarded to Fund Research on Health Records, Genomics

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