New NIH genomics center will sequence only protein-coding regions – Nature Medicine News Article

New NIH genomics center will sequence only protein-coding regions – Nature Medicine News Article

Less than half of the more than 7,000 heritable diseases identified thus far have a known genetic origin. So, on 6 December, to help pinpoint the DNA glitches behind these disorders and thereby hasten diagnosis and drug development, the Bethesda, Maryland–based US National Human Genome Research Institute (NHGRI) and National Heart, Lung, and Blood Institute announced the funding of the Mendelian Disorders Genome Centers Program, part of a larger bundle of genomics grants totaling more than $400 million toward projects it has also supported in the past.

The nearly $50 million injected into the new Mendelian Disorders program over four years will go to four top genomics institutes in the US—the University of Washington in Seattle, Yale University in New Haven, Connecticut, and the joint genomics center from John Hopkins University in Baltimore, Maryland and the Baylor College of Medicine in Houston. These centers, which together already hold sequence data for around 12,000 individuals with more than 700 disorders, will add even more sequences, predominantly focusing on people’s exons, the protein-encoding regions of the genome. The target diseases might run the gamut from more common diseases, such as heart muscle disorders, to rare diseases that only affect a few people, such as premature aging.

Read more: New NIH genetics center focuses its lens on exome, despite doubts — Nature Medicine

Photo: Silky M