NIH’s $140M investigation of genetic variation could unlock a ‘new universe of variants’

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Scientists have shared details of their expectations for the U.S. National Institutes of Health’s (NIH) $140 million push to investigate genetic variation in normal human cells and tissues.

In May, the NIH revealed the creation of the Common Fund’s Somatic Mosaicism Across Human Tissues (SMaHT) Network, a new program focused on understanding the level of genetic variation in human cells and tissues. The project will fund the study of a type of genetic variation, known as somatic mosaicism, that is defined by non-reproductive cells that are genetically different.

The accumulation of changes to DNA over time drives somatic genetic variation, altering how affected cells function and a range of physiological processes including disease and aging. Through SMaHT, the NIH aims to catalog the breadth of somatic mosaicism in human tissues.

To establish the SMaHT Network, the NIH issued 22 awards to researchers working on different aspects of somatic mosaicism. The network features centers for collecting tissues, genome characterization, data analysis, and project coordination, plus projects focused on the development of tools such as new DNA sequencing and analysis technologies.

Researchers involved in some of the 22 projects spoke to GenomeWeb about their work. Baylor College of Medicine’s Fritz Sedlazeck, who is collaborating to improve the characterization of somatic and mosaic structural variation, called the SMaHT Network “the first systematic approach to categorize somatic and mosaic variants” and discussed the challenges his work could overcome.

“It's almost boring to call [single nucleotide polymorphisms] on an individual for germline,” Sedlazeck said. “We can do it on large-scale clinical genomes, so that's exciting, but from a developer's point of view, it's getting boring, and we can’t innovate much more.” Through SMaHT, Sedlazeck said that he could “jump into a new universe of variants.”

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