Utilizing genomic approaches to interrogate mechanisms of inherited cardiovascular disorders.
My laboratory utilizes genomic approaches like CRISPR/CAS to interrogate mechanisms of inherited cardiovascular disorders especially those that lead to heart failure. We are particularly interested in developing single cell and cardiac microtissue assays derived from disease-specific, human induced pluripotent stem cells (iPScs) in combination with in vivo mouse models. My lab’s current research focus is directed toward: 1) defining the role of AMP-activated protein kinase in physiologic and pathologic forms of cardiac remodeling; 2) engineering cardiac microtissues to study the most common forms of familial hypertrophic and dilated cardiomyopathies due to sarcomere mutations; and 3) developing assays for high-throughput functional genomic screens to predict pathogenicity of genetic variation in cardiomyopathy genes. These studies capitalize on the laboratory’s expertise in human genetics, stem cell biology, tissue engineering and computational methods. While my laboratory is at the The Jackson Laboratory, I also maintain a clinical practice treating patients with inherited cardiovascular diseases at the University of Connecticut Cardiology division