Somatic mosaicisms are post-conception changes to cellular DNA that lead to genetic variation among cells in an organism. These changes can account for variation among individuals’ health or disease progression. Therefore, an understanding of their implication in disease response could lead to new personalized therapies.
In May of 2023, the National Institutes of Health (NIH) announced a new program - Somatic Mosaicism across Human Tissues (SMaHT) Network - to better understand genetic variation present in cells throughout the human body. The SMaHT Network will receive $140 million over 5 years to achieve the following outcomes:
Create a catalog of somatic variants in select tissues from diverse human donors;
Use new sequencing tools and analytic methods to optimize variant detection;
Create a SMaHT data workbench that seamlessly integrates with current tools to study DNA sequences to allow the combined analysis of somatic variation with the current human genome; and
Better understand the contribution of somatic variation to human biology through the development of new technologies, analysis methods, and extensive datasets.
In support of this effort, the NIH is reportedly funding five Genome Characterization Centers1 across the US.: Broad Institute, Seattle Children’s Hospital, New York Genome Center, Baylor College of Medicine, and Washington University.
1 Zhang, “Newly Funded Genome Characterization Centers Aim To Elucidate Human Somatic Mosaicism” GenomeWeb, August 24, 2023.
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