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Genome Canada-funded research team wins 2018 Governor General Innovation Award

Wednesday, May 16, 2018

Ottawa, ON

A research team from Memorial University of Newfoundland has been recognized with a 2018 Governor General Innovation Award. Drs. Terry-Lynn Young, Sean Connors, Kathleen Hodgkinson and Daryl Pullman are receiving the award for identifying a lethal gene mutation known to have caused sudden cardiac death in more than 25 Newfoundland and Labrador families.

The multidisciplinary team uncovered the disease-causing gene TMEM43 (as one of the 29 new monogenetic disorders they’ve characterized), and then spearheaded research to establish life-saving screening methods and preventative treatments for patients with TMEM43 mutations. Physicians worldwide now have the information to successfully treat hundreds of gene carriers with life-saving implantable cardioverter defibrillator (ICD) therapy based on a mutation test alone, significantly lengthening the lifespan of those affected. This has resulted in a paradigm shift in clinical management and ethical oversight.

Genome Canada is proud to have supported this exceptional work through The Atlantic Medical Genetic and Genomics Initiative. The initiative, a collaboration with Genome Atlantic, launched in 2005-06 with a mandate to identify new genes that have a major impact on health. It used the Atlantic region’s unique population structure and history, as well as the high quality of the health care system to provide a streamlined discovery process. At the time, it promised to generate tangible socioeconomic benefits by improving health care and disease management for individuals, families and communities in Atlantic Canada burdened by devastating single gene disorders.

The short video “A family curse warded off by Canadian genomics research” portrays one Newfoundlander found to have the “broken heart gene” and how his life changed because of this discovery. Watch it here: A Family Curse.

Genome Canada applauds the recognition of this groundbreaking and important work, and congratulates Drs Young, Connors, Hodgkinson and Pullman and their team on this well-deserved honour.

For more information on the 2018 Governor General Innovation Awards visit: https://innovation.gg.ca/en/.