Sharlene M. Day, MD
Year elected: 2018
Current membership category: Active
Associate Professor of MedicineUniversity of Pennsylvania
3400 Civic Center Blvd
Philadelphia, PA 19104
United States of America
Sharlene Day graduated from the Massachusetts Institute of Technology and received her MD from New York University School of Medicine. She completed internal medicine residency, cardiovascular medicine fellowship, and a postdoctoral research fellowship at the University of Michigan. Dr. Day's clinical and research programs focus on inherited cardiomyopathies. She has been treating patients and their families with hypertrophic cardiomyopathy (HCM) and other genetic heart conditions in a dedicated clinic that she started in 2007. Dr. Day is a founding investigator for the Sarcomeric Human Cardiomyopathy Registry (ShaRe). SHaRe is a large-scale, international registry of hypertrophic and dilated cardiomyopathes with prospective longitudinal follow-up, that is providing important insights into natural history, risk prediction, and genotype-phenotype relationships. Dr. Day is also actively engaged in clinical trials in HCM, involving both pharmacologic and exercise interventions that aim to prevent or attenuate disease. She led the first randomized clinical trial of exercise training in HCM patients and showed that moderate intensity training improved exercise capacity in HCM patients without causing arrhythmias. Dr. Day’s basic/translational research program focuses on the underlying biology of HCM, in particular how mutations in sarcomere genes trigger and perpetuate disease. Her lab has leveraged a large heart tissue bank from genotyped HCM patients to gain important insights into disease mechanisms. For example, they have identified gene and allele-specific sarcomere gene expression patterns, defective proteostasis, and dysfunctional calcium homeostasis in human HCM. They have developed a series of unique human stem cell-derived cardiac myocyte models of hypertrophic cardiomyopathy in isogenic lines through genome-editing. Recent efforts are focused on integrating clinical data from SHaRe with experimental models to examine direct consequences of mutations in sarcomere genes and to design a targeted small molecule intervention for the largest genetic subgroup of HCM patients.