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UPDATE: NHGRI Pledges $280M to Support Genomic Research on Common, Rare Diseases

This article has been updated to include comments from Eric Green and Adam Felsenfeld.

NEW YORK (GenomeWeb) –  The National Institutes of Health today announced that the National Human Genome Research Institute will provide $280 million over four years to fund the creation of a network of genome sequencing and analysis centers to research the genomic basis of common diseases, as well as to support ongoing research into rare diseases.

The agency also said it will provide $4 million to fund a coordinating center for its Genome Sequencing Program.

"Advances in DNA sequencing are creating tremendous new opportunities for exploring how the genome plays a role in human disease," NHGRI Director Eric Green said in a statement. "Our continued focus on both rare and common diseases promises to reveal important aspects about the genomic architecture of a wide range of human disorders."

Under the first initiative, the NHGRI has established the Centers for Common Disease Genomics (CCDG), which will use sequencing to examine the genetic bases of common diseases such as heart disease, diabetes, stroke, and autism. 

Institutes participating in the CCDG include Washington University, which will receive $60 million; the Broad Institute of MIT and Harvard, which will receive $80 million; Baylor College of Medicine, which will receive $60 million; and the New York Genome Center, which will receive $40 million. 

The CCGD members will initially focus on cardiovascular/metabolic and neuropsychiatric diseases, and may later expand into other disorders including inflammatory/autoimmune disorders, bone/skeletal diseases, and Alzheimer’s disease.

In a conference call with reporters, Green stressed the importance of being able to discern genetic factors from environmental factors when studying disease. To address this challenge, the CCDG institutes will seek to sequence 150,000 to 200,000 genomes, including disease cases and controls. 

"The center investigators plan to use genome sequencing to identify as many of the genes and genomic variants underlying common diseases as possible," Adam Felsenfeld, director of the NHGRI Genome Sequencing Program, said in the NIH statement. "Building on existing research, they will continue to uncover new biological insights into the development of common disease. At the same time, these studies will reveal genomic variants that may increase the risk for — or in some cases, protect against — diseases, which eventually might be helpful for their clinical management."

On the call, Felsenfeld also praised the work these institutions have already done. They all have a "very productive history" and have undertaken many studies on the genomic basis of disease, he said. They also have "excellent track records of lowering [sequencing] costs and producing high quality data, and excellent histories of intellectual contributions to tackle these problems," he added. 

The NHGRI has also awarded a new round of grants through its Centers for Mendelian Genomics (CMG), which was established by the agency in 2011 to investigate the genomics of rare, often hereditary conditions such as cystic fibrosis and muscular dystrophy.

Recipients of the new awards include the Broad Institute, which will receive $13.4 million, and Yale University, which will receive $12 million. Researchers from the University of Washington, Seattle and the Baylor College of Medicine will collaborate under the CMG initiative and receive $12 million, while collaborators from Johns Hopkins University and the Baylor College of Medicine will receive $11.6 million to support their efforts.

"Rare diseases provide an important window into the biology of both rare and common diseases,” Lu Wang, director of the CMG program, said in the statement. "CMG investigators will continue to apply genome sequencing and analysis to find genes that cause Mendelian diseases, with a focus on novel genes." 

In the conference call, Wang added that institutes in the CMG program have already sequenced about 20,000 exomes, implicating thousands of genes in different diseases, many of them novel. Importantly, Wang said, these institutions have also "innovated their discovery pipelines in order to incrase their success rate," and that the continuing mendelian diseases program will not only focus on finding as many novel genes as possible in the next four years, but will also seek to "improve discovery pipelines and disseminate tools the researchers have developed."

The NHGRI has also named Rutgers University as a coordinating center of its Genome Sequencing Project. The agency will provide $4 million in funding to support the university's efforts to coordinate the activities of CCDG and CMG members and foster collaboration among them. The coordinating center will also be responsible for improving data availability and leading center data-analysis efforts, the NHGRI said.

When asked why NHGRI has chosen now to start such a program, Green said the drop in sequencing costs in recent years has made such an endeavor "affordable." Technological advances in DNA sequencing "are inching us closer to the $1,000 genome threshold," he added, "and that makes studies that were once unimaginable because of their scale quite possible."

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