NIH Funds $140M Program to Catalog Somatic Mosaicism in Humans

NEW YORK – The National Institutes of Health said Thursday that it is launching a new program, the Common Fund's Somatic Mosaicism Across Human Tissues (SMaHT) Network, which aims to increase researchers' understanding of somatic mosaicism, the genetic variation that occurs in the body's non-reproductive cells and tissues.

Under the network, awards totaling $140 million will be awarded over five years, pending availability of funds, for projects exploring this landscape.

"The breadth of mosaicism's reach makes it unwieldy for just one NIH institute or center to address alone," Robert Eisinger, acting director of NIH's division of program coordination, planning, and strategic initiatives, said in a statement.

The overall goal of the SMaHT Network is to provide foundational knowledge to support research on how somatic genetic variation, which occurs naturally over time, affects human development and aging, as well as a wide range of diseases and disorders including cancer, undiagnosed diseases, and disorders of the brain, muscle, skin, and immune system.

According to the institute, participants are also expected to develop state-of-the-art technologies to better detect somatic mosaicism in different cell types and tissues, and across human life stages.

"Advancing technologies to identify somatic mutations, including those due to movement of transposable elements or so-called 'jumping genes,' over time, will lead to a new understanding of age-related disorders," said Walter Koroshetz, director of NIH's National Institute of Neurological Disorders and Stroke, in the statement.

So far, NIH has issued 22 awards to establish the network, including grants to support a procurement center to collect a common set of 10 to 15 tissues from 150 post-mortem human donors, and a group of "genome characterization centers" to identify and describe the diversity of somatic genetic variation in the tissues.

According to NIH, the project will collect tissues from individuals of diverse ancestries and life stages and will likely include samples from the brain, blood, skin, muscle, colon, spleen, uterus, vas deferens, ovaries, and testis.

The grants also include support for a data analysis center, programs to develop new DNA sequencing and analysis technologies, and an organizational center.

In 2023, $1.5 million in funding is going to Washington University School of Medicine to establish the organizational center, $2 million to Harvard Medical School for the data analysis center, and $3 million to the National Disease Research Interchange for the tissue procurement center.

Further funding is going to various genome characterization centers, including $920,000 to the Broad Institute, $2.5 million to Seattle Children's Hospital, $1.5 million to the New York Genome Center, $2.5 million to Baylor College of Medicine, and $2.5 million to Washington University St. Louis.

Grants of $500,000 or less each for various tool development projects are going to researchers at Mayo Clinic Rochester, Dana-Farber Cancer Institute, the Broad Institute, Boston Children's Hospital, New York University School of Medicine, the University of Massachusetts Medical School, Case Western Reserve University, Weill Medical College of Cornell University, the University of Utah, the University of Michigan, Baylor College of Medicine, and Stanford University.