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Top Canadian honour

Sudden cardiac death genetic research team lauded by Governor General

By Jeff Green

A team of researchers are winners of the Governor General’s Innovation Award for its groundbreaking discovery that’s saving the lives of those affected by a deadly genetic disease.

The Faculty of Medicine’s Drs. Terry-Lynn Young, Kathy Hodgkinson, Sean Connors and Daryl Pullman are the first recipients from Memorial to receive this prestigious award.

They are being recognized for the discovery and treatment of a cardiac muscle disorder known as arrhythmogenic right ventricular cardiomyopathy (ARVC). The group has also spearheaded the establishment of life-saving screening methods and changes to important health legislation.

“The seminal work of Drs. Terry-Lynn Young, Kathy Hodgkinson, Sean Connors and Daryl Pullman represents the true innovative spirit of Memorial’s entire research community,” said President Gary Kachanoski.

“The significant work, led by this team of researchers, clinicians, geneticists and their trainees, has made an incredible difference to those living with this disease and has contributed to major advancements in the medical and health ethics fields. Their work has raised Memorial’s reputation for important health-related research and discoveries. I offer congratulations to the entire team on receiving the Governor General’s Innovation Award and thank them for their commitment to research that truly matters.”

Team effort

The researchers say they are humbled by the honour.

“Receiving the Governor General’s Innovation Award brings recognition to the interdisciplinary teamwork we have been leading for more than a decade,” the researchers said in a group statement to the Gazette.

“It is incredibly gratifying to receive this distinction. Our research is meaningful because of the lives we’ve touched and legislation that’s been enacted because of our work. We thank the many patients and families we have had the opportunity to collaborate with as well as our researcher partners at Memorial.”

Newfoundland curse

ARVC, a rare heart arrhythmia, is often referred to by family members as “The Newfoundland Curse.”

It has affected families for hundreds of years. Dr. Hodgkinson, associate professor of medicine (clinical epidemiology), has worked as a genetic counsellor/genetic researcher with many families afflicted with this disease for more than two decades and worked to determine the natural history and clinical course of this disorder.

The analysis revealed startling results. For young men affected with ARVC, the first symptom may be death. Fifty 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.

Dr. Hodgkinson convinced Dr. Young, professor, Discipline of Genetics, of the urgent need to take the lead in finding the gene, and its mutation, responsible for so many early deaths.

Her lab eventually identified a single mutation in a novel gene (TMEM43) in all clinically affected family members. Her lab succeeded where many well-known international groups failed.

Ten years ago, the team revealed that discovery to the world.

Simple blood test

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

Dr. Connors, the cardiologist on the team and an associate professor of medicine (cardiology), developed a prevention program in which family members with the disease-causing 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.

New ethical legislation

Dr. 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 Newfoundlanders and Labradorians.

National and provincial support

Over the years, this Memorial-led research project has been supported by the Canadian Institutes of Health Research, Canada Foundation for Innovation, Genome Canada, Genome Atlantic, the Atlantic Canada Opportunities Agency, the Research & Development Corporation, St. Jude Medical, Newfoundland and Labrador Centre for Applied Health Research, Janeway Children’s Hospital Foundation, Memorial University Opportunities Fund, General Hospital Foundation, Ernst and Berta Grimmke Stiftung Foundation (Berlin), Children’s Cardiomyopathy Foundation and the Translational and Personalized Medicine Initiative in the Faculty of Medicine, Memorial University.

They were nominated for the Governor General’s Innovation Award by Universities Canada.

Embracing innovation

The Governor General’s Innovation Award is Canada’s highest honour for innovation.

This year’s recipients were announced on May 14 by Julie Payette, Governor General of Canada. Winners will be recognized during a national ceremony on May 23 in Ottawa, Ont.

Founded in 2015 and presented for the first time in 2016, the Governor General’s Innovation Awards recognize and celebrate outstanding Canadian individuals, teams and organizations whose exceptional and transformative work help shape our future and positively impact our quality of life.

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