Our Cardiovascular Genetics Laboratory aims to discover the genetic basis of inherited heart diseases that cause sudden death. This work involves the study of rare families with monogenic disease (i.e. inherited cardiomyopathies and arrhythmogenic disorders), and the delineation of the genetic architecture of complex traits associated with sudden death (such as cardiac hypertrophy). These studies hold promise in discovering the critical biological pathways that can be targeted by drugs to prevent sudden cardiac death. We intend to apply that knowledge to the clinical setting, enhancing the care of patients and their families.
Our research seeks to address the following research questions: what is the novel disease-causing genetic mutations in probands with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) and familial dilated cardiomyopathy (fDCM) and how do desmosomal mutations influence gene expression and cardiac phenotype in patients with ARVC and fDCM?