The goal of my research has been the translation of cardiovascular pathophysiology from bench to bedside with a focus on atrial fibrillation (AF), a major public health problem. At the Mayo Clinic, I was instrumental in starting a genetics program focused on AF. On joining the Vanderbilt faculty, I continued this focus establishing a clinical-DNA biorepository with over 2700 biosamples from probands and their families; this collection has continued as the UIC AF Registry. We have used these resources to identify clinical, genetic and molecular sub-types of AF, laying the foundation for a long-term vision of replacing empiric treatment with mechanism-based therapies. The biorepositories major focus on ascertainment of families has allowed him to identify novel genes linked with AF using traditional linkage analysis, candidate gene and next generation sequencing.
Furthermore, my laboratory’s ability to functionally characterize novel mutations using in vitro and in vivo models and more recently ex-vivo using atrial-like human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) has defined underlying molecular mechanisms of AF. My research interest marries perfectly with my clinical practice as an electrophysiologist where I look after patients and families with inherited cardiovascular disease including AF and provide personalized care.
Thus, I have successfully created a high-quality translational AF research program focused on delivering personalized therapy that spans the whole spectrum from molecular, cellular, and whole animal studies to human translational trials testing novel hypotheses and defining the underlying pathophysiology of the most common arrhythmia in clinical practice.
– Electrophysiologic Characterization of Calcium Handling in Human Induced Pluripotent Stem Cell-Derived Atrial Cardiomyocytes.
– Electrophysiologic and molecular mechanisms of a frameshift NPPA mutation linked with familial atrial fibrillation