NIH Spends $140 Million to Accelerate Research on Genetic Variations

On May 11, 2023, the NIH launched one of its newest programs: the Common Fund’s Somatic Mosaicism Across Human Tissues (SMaHT). The program is a $140 million effort to accelerate research on genetic variations in human cells and tissues, focusing on normal cells to understand human development, aging, and disease.

The program will focus on studying non-reproductive cells, also known as somatic cells, that vary from other somatic cells in the body. According to the NIH press release, somatic mosaicism refers to genetic variation among somatic cells, often occurring due to gradual DNA changes.

Although somatic mosaicism may not display any phenotypic changes, researchers have hypothesized that DNA alterations can impact development, aging, disease progression, and other components of human health. For example, these DNA changes have been known to contribute to cancer, as DNA mutations may alter cell checkpoints, allowing uncontrolled proliferation.

SMaHT will receive $140 million from the NIH across the next five years to explore the concept of mosaicism. Beyond that, the organization has already issued multiple awards to the initiative, providing a procurement center to collect samples, genome characterization centers, data analysis centers, and an administrative center.

“As somatic mosaicism can occur in any cell type in our bodies, it could have wide-reaching impacts on our health.  The breadth of mosaicism’s reach makes it unwieldy for just one NIH Institute or Center to address alone,” said Robert Eisinger, PhD, acting director of NIH’s Division of Program Coordination, Planning, and Strategic Initiatives, which provides financial support and joint leadership for the network via the NIH Common Fund, in the press release. “This makes the study of somatic mosaicism a good fit for an NIH Common Fund program since it was established to catalyze research within the broad mission of NIH.”

Using data from other NIH-funded programs, including the Human Genome Project and the Epigenomics Program, the NIH hopes that this program will enhance existing DNA sequencing tools, inspire state-of-the-art technologies, and improve the detection of somatic mosaics.