Division of Cardiology
The Judge lab focuses on inherited cardiovascular disorders, investigating their genetic basis and molecular pathogenesis, in order to identify better therapies for people with these conditions. There are three major areas of investigation:
Arrhythmogenic Cardiomyopathy – This inherited form of cardiomyopathy is often caused by mutations in genes encoding cardiac desmosomes, which form junctions between cardiomyocytes. We developed a murine model to serve as platform for studies on this familial form of heart disease. Current projects seek to identify the role of aerobic exercise in worsening this condition, as well as to identify better treatments to prevent fibro-fatty scar formation in the heart.
Transthyretin (TTR) Amyloidosis – TTR is a protein produced in the liver, circulating in blood as a carrier protein for thyroid hormone and retinol (vitamin A). Mutations in this gene cause the protein to misfold and deposit in the heart and elsewhere as insoluble amyloid plaques. A wild-type form of this disease occurs without mutations in TTR, and very little is known about its pathogenesis.
Familial Mitral Valve Prolapse – Our prior work demonstrated that increased TGF-beta signaling contributes to abnormal growth of the mitral valve leaflets. In collaboration with investigators in the MUSC Department of Regenerative Medicine and Cell Biology, we are investigating genetic factors that contribute to this common form of heart disease.