Project Grant R01HL174052

This Federal Project Grant award from the National Heart, Lung, and Blood Institute (NHLBI) under the Cardiovascular Diseases Research program (CFDA 93.837) is supporting research to leverage large-scale biobanks to discover and define rare genetic variant effects on hypertrophic cardiomyopathy (HCM). The $767,579 award to Vanderbilt University Medical Center (VUMC) aims to address key knowledge gaps by: 1) defining the contribution and phenotypic manifestations of established HCM disease genes in diverse, non-referral populations; 2) assessing the pathogenicity of candidate HCM genes and establishing a platform to evaluate variants of uncertain significance in known genes; and 3) discovering novel HCM disease loci through identity-by-descent mapping and rare variant association analyses across multiple biobanks. The project involves sub-awards to Geisinger Clinic and MD Anderson Cancer Center to leverage their expertise and access to large patient cohorts. The findings are expected to substantially expand understanding of the genetic factors underlying HCM risk and their clinical implications, in support of the long-term goal of implementing targeted HCM interventions.