Home Department: undeclared
Mentor: Euan Ashley (Medicine - Cardiovascular Medicine, Genetics, and Biomedical Data Science)

“Constructing a Library of Pathogenic Mutations in TNNT2 to Enable Personalized Treatment for Hypertrophic Cardiomyopathy”

Heart disease is the leading cause of death in the United States. Genetic factors, including inherited mutations at certain loci including TNNT2 (Cardiac muscle troponin T) play a significant role in disease susceptibility. The advent of rapid and accessible genetic testing provides an opportunity to map the genetic variants that contribute to disease, enabling early detection and personalized gene therapies. Arman’s study aims to identify genetic variants at every position in TNNT2 that yield a pathogenic phenotype. Arman is utilizing cutting-edge CRISPR-based gene editing tools and computational sequence analysis tools to establish connections between mutations and pathogenicity, thus potentially developing gene-based therapies for cardiomyopathy.