Research Project: Computational evaluation of the causal role of somatic mutations in human aging.
Although genome instability has long been considered as one of the major causal factors of aging, little is known about the actual number of genome alterations per cell and their effects on aging organisms, most notably humans. In this project, we will take a single cell approach to identify the most common types of somatic mutations, i.e., base substitutions, small INDELS, copy number variation, structural variation and retrotranspositions, in human B lymphocytes as a function of age.
The overarching goal is then to estimate functional effects of these DNA mutations accumulated during human aging in this particular cell type, which will also serve as a model for studying somatic mutations and their consequences in other cell types.
This research project is supported by a grant from the NIH/NIA.