Nature

Translation of research discoveries to clinical care in arrhythmogenic right ventricular cardiomyopathy in Newfoundland and Labrador: Lessons for health policy in genetic disease

Abstract: Arrhythmogenic right ventricular cardiomyopathy, a lethal autosomal dominant cause of sudden cardiac death in young people, is prevalent in Newfoundland and Labrador (genetic subtype ARVD5).
Nature

A model program to increase translation of rare disease genetic tests: collaboration, education, and test translation program

The goals of the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH) are to stimulate and coordinate research on rare diseases, and to support research that responds to the needs ...