NIH Commits $280M to Study Genomic Disease Links

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The National Institutes of Health will spend $280 million over four years to fund a set of genome sequencing and analysis centers to better understand the genomic basis for both common and rare human diseases with the goal of improved diagnosis and potential treatments.

As part of the initiative, NIH’s National Human Genome Research Institute (NHGRI) is funding Centers for Common Disease Genomics (CCDG) and Centers for Mendelian Genomics (CMG).

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“We have historically had a large sequencing program and about every four years we reevaluate scientific goals and think about how to reconfigure for the best science. This is the end of one cycle and the beginning of a new one to address specific scientific questions,” says Adam Felsenfeld, Ph.D., director of the NHGRI’s Genome Sequencing Program.

The bulk of the investment—$240 million—will go toward Centers for Common Disease Genomics, which will sequence an estimated 150,000-200,000 genomes of individuals to explore the genomic contributions to common diseases such as heart disease, diabetes, stroke and autism. For each disease, CCDG researchers will sequence tens of thousands of genomes from individuals with and without the disease.

According to Felsenfeld, determining the causes of these diseases can be challenging given that they result from a complex combination of genomic influences and environmental factors.

“Interpreting whole genome sequences is very difficult,” he adds. “You have to have enough computational resources because it simply involves an enormous amount of data. That’s going to require scaling up the existing infrastructure. There also need to be tools that can deal with the data at that volume and can integrate information in ways that may not have been thought about before.”

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Researchers at four CCDGs—Baylor College of Medicine, Broad Institute of MIT and Harvard, New York Genome Center, and Washington University—will initially focus on cardiovascular/metabolic and neuropsychiatric diseases, but are also considering researching Alzheimer’s and inflammatory/autoimmune and bone/skeletal diseases.

In addition, $40 million will be invested in CMGs at Broad Institute of MIT and Harvard, Johns Hopkins University and Baylor College of Medicine, University of Washington-Seattle and Baylor College of Medicine, and Yale University to continue investigating the genomic underpinnings of rare, typically inherited diseases such as cystic fibrosis and muscular dystrophy.

The goal is to systematically identify the genomic causes of Mendelian diseases—rare disorders that tend to be caused by mutations in a single gene. So far, more than 7,400 Mendelian diseases have been described, and researchers have found the underlying genomic causes for about 4,300 of them. CMG researchers will continue to apply genome sequencing and analysis to find genes that cause these diseases, with a focus on novel genes.

NHGRI will also fund a new Coordinating Center for $4 million over four years to facilitate research collaborations among the program grantees as well as provide data analysis and program outreach. NIH’s National Heart, Lung, and Blood Institute will contribute to both the CCDG and CMG programs—$20 million and $8 million, respectively—while the National Eye Institute will provide $1 million in support to the CMG program.

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