A simple blood test.
That is all it takes to determine if a person is carrying a deadly gene mutation.
Patients and health-care practitioners around the world can thank a Canadian medical team for that pioneering breakthrough – one that is helping save the lives of those affected by a deadly “curse.”
The research team – made up of Drs. Terry-Lynn Young, Kathy Hodgkinson, Sean Connors and Daryl Pullman from Memorial University of Newfoundland’s Faculty of Medicine — made the groundbreaking 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 team members are the first recipients from Memorial to receive one of Canada’s top honours: the Governor General’s Innovation Award.
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 the disease for more than two decades and worked to determine the natural history and clinical course of the 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; 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.
Dr. Young’s laboratory eventually identified a single mutation in a novel gene (TMEM43) in all clinically affected family members. They succeeded where many well-known international groups failed.
More than 10 years ago, the team revealed its discovery to the world.
Simple blood test
As a result of that work, health-care practitioners now perform a simple blood test that reveals whether or not 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 are 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.
The Memorial University team has forged international research collaborations to explore the genetic connections to sudden cardiac death worldwide.
Their life-saving screening methods and preventative treatments are now being implemented in other countries.
The researchers say they are humbled by the recognition for their work, including Canada’s highest honour for innovation.
“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.
“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 University.”