NIH R01 · 2024
Uncovering the origin of hypermutability in adult brains
Abstract Genomic variants in an individual may be either inherited (i.e., transmitted through the germline) or generated by mutagenesis in post-zygotic cells. Widespread genomic mosaicism in somatic cells of phenotypically normal individuals is now well established. In certain cases, it is known that mutations have causative role in diseases and contribute to neuropsychiatric disorders. But generally, little is known about to what extent natural mosaicism influences an individual’s susceptibility to disease. In our recent study we discovered a phenomenon of hypermutability in adult brains. Hypermutability was not related to diagnosis but increased with age, reaching at least 3% population…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.