Federal Grant Award Summary

The National Institute on Aging (NIA) awarded Dana-Farber Cancer Institute, Inc. a Project Grant totaling $737,261 under the Aging Research program (CFDA 93.866), effective July 1, 2026, through March 31, 2031. This research initiative investigates the functional consequences of telomere maintenance gene variants, specifically TERT (telomerase reverse transcriptase) missense rare variants, and their role in age-related disease development. The project combines genetic approaches utilizing large population cohorts and rare disease cohorts with functional validation in mouse and cell line models to elucidate the shared biological principles connecting rare disease biology with normal human aging and to interrogate the direct link between germline-encoded telomere dysfunction and clonal hematopoiesis development.

The deliverables from this award will include comprehensive functional characterization of currently unclassified rare variants in telomere maintenance genes, addressing a critical gap in the field where approximately 99% of missense rare variants lack functional annotation. By developing and applying high-throughput functional assays, the research will provide validated evidence linking specific germline variants to clinical outcomes and age-related phenotypes, advancing understanding of how heritable telomere length variation contributes to aging-related diseases and mortality risk at the population level.