Genetic Testing for Sudden Cardiac Death

Lay Summary 

Three years ago, a multidisciplinary team of researchers at Memorial University’s Faculty of Medicine discovered a gene linked to Sudden Cardiac Death (SCD). This research has resulted in saving over 100 lives (and counting) through treatment with the Implantable Cardioverter Defibrillator (ICD). This locally discovered gene was believed to be unique to the Newfoundland population. Recent collaboration with heart research institutes around the world is uncovering new evidence of the gene and potentially lethal mutations in other populations. A much larger 'super family' genetic connection to SCD is thus building upon the Newfoundland gene discovery.

Through this project, Memorial will lead an international team of cardiologists and cardiology research groups (in the UK and Canada) to extend this research and to discover and validate more genes that cause SCD. The combination of international collaboration, existing evidence, significant improvements in computing technology and more affordable genetic tests in the marketplace, will strengthen the probability of success of this project. The key driver for international researchers is the real opportunity to make a difference and save many thousands of lives, particularly younger people (under 40 years) who unknowingly carry a gene linked to SCD. The leading patient support group in Canada, the Sudden Adult Death Society (SADS), whose members have lost young family members to SCD, endorses this research. The researchers welcome the support of the Sudden Adult Death Society.

Community Health and Humanities
Clinical Disciplines - Genetics
Clinical Disciplines - Medicine
St. John's
Newfoundland and Labrador
United Kingdom
Genetic Screening
International Collaboration
Industry Sectors 
Scientific Research and Development Services
Health Care and Social Assistance
Start date 
1 Jan 2011