Terry-Lynn Young, Sean Connors, Kathleen Hodgkinson, Daryl Pullman
The research team at Memorial University identified a lethal gene mutation known to have caused sudden cardiac death in 25 Newfoundland and Labrador families.
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About the Innovation
The research team at Memorial University identified a lethal gene mutation known to have caused sudden cardiac death in 25 Newfoundland and Labrador families. The multidisciplinary team not only uncovered the disease-causing gene TMEM43, but also spearheaded research to establish life-saving screening methods and preventative treatments. 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.
About the Innovator
During their 20-year collaboration, these researchers have (a) discovered a lethal genetic mutation, and have convinced the scientific community that a single letter mistake in an unknown protein could have such a lethal impact (headed by Dr. Young); (b) determined the true nature of the disease process from birth to death, with and without treatment (headed by Dr. Hodgkinson); (c) used the genetic mutation to determine pre-symptomatic ICD therapy resulting in an addition of 30 years of life to family members (headed by Dr. Connors); and (d) contributed to the development of innovative health policy and legislation requiring provincial oversight of genetic research in Newfoundland and Labrador (headed by Dr. Pullman).
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