The ASPIRE Path in Molecular Medicine

I am a Pharmacology graduate student in the Charles Hong lab. My research focuses on using induced pluripotent stem cell (iPSCs) to model heart disease. Recently we received a unique heart sample, from the Vanderbilt Center for Inherited Heart Disease, that was taken from a Restrictive Cardiomyopathy (RCM) patient with a de novo mutation in TNNI3. The patient did not have any hypertrophy, but rather presented with aborted sudden cardiac death. To our knowledge this is a novel RCM causing mutation; as it has not been linked to RCM in the literature. For my thesis project I will use the Induced Pluripotent Stem Cell Derived Cardiomyocytes (iPSC-CM) from the RCM patient and examine their cellular and molecular differences in comparison to a control iPSC-CM. Specifically, focusing on electrophysiology, calcium handling and contraction.