B.A. in Integrative Physiology, University of Colorado Boulder, 2016
Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease with many genotypic and phenotypic variations. There are more than 300 β-MyHC mutations, with some of them showing severe phenotypes and others showing milder or even no effects in patients. The reason for this wide range of phenotypes might be that mutations in different domains in the β-MyHC cause HCM by different mechanisms. I plan to generate isogenic mutations in different domains of β-MyHC in human induced pluripotent stem cells and investigate the disease-causing mechanism at the molecular and cellular level.