I have an unbreakable passion for rare diseases, particularly Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C), commonly referred to as Sudden Cardiac Death in Young Athletes. To be honest, it wasn’t until my first year as a postdoctoral fellow at the Johns Hopkins University School of Medicine (JHU SOM) when I had heard of this dreadful disease. However, the Orphanet Journal of Rare Disease put it best in 2014 when they stated, “While a rare disease is rare, the prevalence of a disease is of no consolation to those afflicted by it.” I repeat this to myself weekly, particularly when funding seems unobtainable for rare diseases such as ARVD/C. Although this may have deterred others, it has only driven my passion further to bring clinical and research awareness to this familial disease. For nearly 15 years I have researched the genetic and environmental causes (e.g., exercise and/or psychosocial stress) that give rise to ARVD/C disease phenotypes. This has been primarily through years of dissemination of my work via publications, seminars, and conferences. Yet, recently I have had the greatest honor to work with pharmaceutical companies, such as Pfizer, Novartis, and Rejuvenate Bio, testing the efficaciousness of their FDA-approved and up-in-coming drugs on the prevention of disease phenotypes in pre-clinical animal models of ARVD/C.
My sole research focus utilizes in vitro and in vivo models of ARVD/C to elucidate aberrant cell signaling mechanisms that give rise to ARVD/C functional and pathological phenotypes. I am a translational research physiologist with extensive experience (~15yrs) testing the efficaciousness of small molecule inhibitors and FDA-approved drugs on cardiovascular functional outcomes (e.g. echocardiography, ECG telemetry, blood pressure, and vascular contractile properties) and the prevention of myocardial injury (e.g., inflammation, cell death, and fibrosis). I spent nearly 10 years creating the nation’s largest ARVD/C Patient Biobank at the Johns Hopkins University School of Medicine (JHU SOM) under the direction of Drs. Hari Tandri, Daniel Judge and Hugh Calkins. I am pleased to be part of a collaborative network of clinical and basic researchers performing translational studies with murine and cellular models of ARVD/C, internally, externally, and abroad. My laboratory is a team. Thus, in addition to myself, my research team helps bring new therapies to clinical trials by providing pre-clinical and robust animal models of ARVD/C. In addition to my research team’s expertise in ARVD/C at Florida State University College of Medicine (FSUCOM), I was a fellow and an Assistant Professor at JHUSOM for nearly a decade. In fact, I hold joint appointments as an Assistant Professor at both JHUSOM and FSUCOM. During my tenure at JHUSOM I developed a long-standing collaboration with the world-renowned ARVC/D Program (www.arvd.com; Director, Dr. Hugh Calkins). In addition to my current work with Pfizer, Novartis, and Rejuvenate Bio, I will use my fruitful collaboration with the ARVC/D Program to aid in the mission of Who We Play For: “For every kid who never had the opportunity.”