Project 465679

Thousands of rare genetic diseases (RDs) affect one million Canadians, mostly children; RDs cause significant disability, lead to early death, and only a handful have a targeted treatment. We can now identify gene mutations that cause RDs, but we understand very little about the impact of those genes and mutations on biology and health. As a result, we don't know how to treat most RDs. The functional consequences of human gene mutations can be studied in model organisms (such as yeast, worm, fly, fish, and mouse). These experiments can reveal how mutations cause disease and identify potential therapies. However, clinician scientists discovering genes that cause RD do not usually conduct research in model organisms, and model organism scientists are not usually aware of new RD genes as they are discovered. Thus, in 2014 we created the Canadian 'Rare Diseases: Models and Mechanisms' (RDMM) Network to: a) connect clinicians discovering RD genes with model organism scientists able to study that gene, and b) provide seed funding to support collaborative research. The RDMM Network has catalyzed connections for 100 RD genes and funded 143 projects, leading to original scientific publications, large-scale follow-on grants, and candidate therapies. Our network was the first of its kind, and we have helped establish similar networks around the world, allowing us to identify and support even more clinician-scientist collaborations. In this next phase, we will expand the impact and reach of the RDMM Network to: - Support more than 65 collaborative projects to generate new knowledge - Include additional types of model systems to support research in underserved body systems, tissues, or diseases - Expand our national partnerships and international collaborations Building on our eight years of experience running the RDMM Network, we will continue to leverage the scientific excellence in Canada to provide new insights into biology that will improve the care of Canadians with RD.