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Mending broken hearts

Gene discovery the path to saving lives of 'cursed' families

By Virginia Middleton

For young men affected by arrhythmogenic right ventricular cardiomyopathy (ARVC), the first symptom may be death.

If undetected, 50 per cent die by age 40 and 80 per cent by age 50. For women, the rate is five per cent and 20 per cent.

While the rare heart arrhythmia has been prevalent in this province, it has affected families around the globe. But about 25 years ago, a team of researchers in the Faculty of Medicine started to look at this deadly “curse” and why it affected so many Newfoundlanders and Labradorians.

Since then, their discoveries have helped solve some of the mysteries connected to this tragic disorder. During the past decade, lives were saved.

N.L. curse

Dr. Kathy Hodgkinson, associate professor of medicine (clinical epidemiology), has worked as a genetic counsellor/genetic researcher with many families afflicted with the disease for more than two decades.

Dr. Hodgkinson has been instrumental in determining the natural history and clinical course of ARVC.

Dr. Hodgkinson convinced Dr. Terry-Lynn Young, a professor in the Discipline of Genetics, of the urgent need to take the lead in finding the gene and its mutation, which was responsible for a significant number of early deaths.

In 2008 Dr. Young’s team identified a single mutation in a novel gene (TMEM43) in all clinically affected family members. Her laboratory succeeded where many well-known international groups failed.

Simple blood test

As a result, health-care practitioners now perform a simple blood test that can reveal if a person is carrying the deadly gene mutation.

Dr. Sean Connors, the cardiologist on the team and an associate professor of medicine (cardiology), developed a prevention program in which family members with the mutation were provided with implantable cardioverter defibrillators (ICDs).

The ICDs recognize when a heart goes into an abnormal rhythm and provides an internal electrical shock to return the heart to a normal rhythm, saving those inflicted. 

New ethical legislation

Dr. Daryl Pullman, professor of medical ethics in the Division of Community Health and Humanities, helped develop legislation to ensure that all human subject research conducted in the province is reviewed by a duly constituted research ethics board within Newfoundland and Labrador.

Such legislative oversight for health research is unique in North America and is widely considered an innovative advance in the field. In addition, changes have been enacted regarding the limits to confidentiality of medical information as it pertains to genetic conditions.

Results from research using the Newfoundland Founder Population must also be used to benefit other Newfoundlanders and Labradorians.

In 2019 the team received the Governor General’s Innovation Award, Canada’s highest honour for innovation, which recognized the interdisciplinary teamwork they have been leading for more than a decade.


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