Dr. Sean Connors

Dr Connors is a cardiologist practicing in St John’s. He trained at the University of Oxford, England completing a doctorate in cardiac physiology before completing medical school and a specialty in internal medicine in St John’s, NL. He subsequently completed a fellowship in cardiology at the University of Toronto followed by a subspeciality in cardiac electrophysiology at the University of Oklahoma and the Ottawa Heart Institute.

 

In 1999 Dr Connors returned to Newfoundland and Labrador to start practice in Cardiology. Dr Connors is currently an associate professor of medicine with Memorial University and Clinical Chief of the Cardiac Care Program with Eastern Health. His research interests include the genetics of sudden cardiac death and treatment with implanted cardiac defibrillators.

CARDIOLOGY

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Cardiovascular diseases represent an enormous burden on healthcare systems worldwide. Usually an initial diagnosis has centred on commonly understood co-morbidity factors such as smoking, obesity and a lack of exercise.

 

However, Dr. Young’s group made a world-first discovery in isolating and clinically validating mutations in the TMEM43 gene, now known to directly cause Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) and potentially leading to Sudden Cardiac Death (SCD) if left untreated.

 

This discovery has opened a multitude of potentially new and commercialisable diagnostic and clinical solutions for a group that live in constant fear of literally dropping dead.

THE TEAM

Dr. Kathy Hodgkinson

Dr. Kathleen Hodgkinson is an associate professor and program coordinator of clinical epidemiology and genetics within the Faculty of Medicine at Memorial University. Her specialty is determining natural history, clinical course, and underlying genetic causes of rare genetic disease in the Newfoundland and Labrador founder population.

 

Her specific interest is in genetic causes of sudden cardiac death (SCD), particularly a rare, lethal of form of arrhythmogenic right ventricular cardiomyopathy (ARVC). Her work with large ARVC families allowed the identification of the responsible gene (TMEM43) and mutation (p.S358L) in 2008.

 

For the families, the discovery means that a blood test can determine who carries the lethal mutation allowing for prophylactic treatment. Prior to the determination of the mutation, the first symptom in many families was SCD. She and the SCD team has recently published data using an innovative research design (which utilises all the data from the multiplex families across the generations) showing that prophylactic pre symptomatic treatment with an Implantable Cardioverter Defibrillator has altered survival by at least 30 years in males.

 

Dr. Hodgkinson was the recipient in 2017 of the Marilyn Harvey Memorial University award for excellence in human research ethics.

 

She holds a Doctor of Philosophy with distinction (The clinical and genetic epidemiology of Arrhythmogenic Right Ventricular Cardiomyopathy) from Memorial University, an MSc in genetic counselling from McGill University; and a BSc. in genetics and cell biology from Manchester University.

Dr. Terry-Lynn Young

Dr. Terry-Lynn Young is a Professor and Director of Genomics Research for the Translational and Personalized Medicine Initiative (TPMI) in the Faculty of Medicine, Memorial University. Dr. Young received her PhD (Human Genetics) from Memorial University in 2000 and completed postdoctoral studies in the Department of Genome Sciences at the University of Washington in 2003. Since then she has been an outstanding and eminent contributor in applied genetic research, most notably her team’s discovery of the gene-TMEM43,  which causes Arrythmic Right Ventricle Disease (ARVD), more commonly known as Sudden Cardiac Death (SCD) in the apparently young and healthy.

 

Dr. Young and her team have made significant contributions to the understanding of the genetic bases of blindness, kidney disease and several neurological conditions including hearing loss and deafness.

 

Accolades have followed, including:

 

  • Recipient of the President’s Award for Outstanding Research

  • Founding Scientist of the Graig L. Dobbin Genetics Research Centre

  • Board of Directors of the Research and Development Corporation (RDC)

  • Board of Directors of the Beatrice Hunter Cancer Research Institute.

  • Scientific officer for the CIHR-Genetics panel and was recently appointed as

  • Chair of the Institute Advisory Board for Genetics (CIHR)

  • Member of several national scientific review committees

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