As part of a Genome Atlantic project, scientists discovered the genetic marker for “The Newfoundland Curse”, an often-fatal heart disease. With screening, hundreds of high-risk patients have been identified and many fitted with life-saving defibrillators. Researchers at Memorial University and Janeway Children’s Hospital are continuing this important research to find more answers.
L to R: The ARVC research team of Drs. Terry-Lynn Young, Kathleen Hodgkinson and Sean Connors
Heart disease gene discovery still saving lives
Update: Drs. Terry-Lynn Young, Kathleen Hodgkinson, Sean Connors and Daryl Pullman were awarded a Governor General’s Innovation Award in May 2018 for their groundbreaking work identifying the lethal gene mutation that causes Type 5 ARVC, dubbed the “Newfoundland Curse”.
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is a deadly heart condition that runs in families and is a cause of unexpected death in seemingly healthy young people. ARVC is particularly prevalent in Newfoundland and Labrador where it exists in a high proportion of the population, with as many as one in 1,000 people affected.
In 2008, researchers at Memorial University discovered the gene responsible for ARVC. Until the causative gene and mutation were found, families with the disease in their medical histories lived in constant fear of sudden death, which was often the only symptom of the condition. Now, thanks to the research team’s discovery, a simple blood test can diagnose ARVC and prophylactic action can be taken with an implanted defibrillator, to jolt a dangerously frenzied heart beat back into a safe, normal rhythm.
Genome Atlantic gratefully acknowledges the financial support of the Government of Canada through Genome Canada, as well as the Atlantic Canada Opportunities Agency and the provincial governments of Newfoundland and Labrador, Nova Scotia, New Brunswick, and Prince Edward Island.
Genome Atlantic is one of 7 Genome Centres in Canada that are part of the Genome Canada Enterprise. This network encourages collaboration, with each centre focusing on the needs of their respective regions.
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WE FOCUS ON CLIENT LED SOLUTIONS.
BRING US AND IDEA AND WE’LL HELP YOU GET IT INTO ACTION.
