Grant: Research Network: Rare Diseases

Thousands of rare genetic diseases (RDs) affect one million Canadians, mostly children, and cause significant disability, lead to early death, and almost all have no treatment. Genomic sequencing (decoding a person's DNA) has transformed our ability to 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 of these devastating diseases. Studying gene mutations in model organisms (such as yeast, worm, fly, fish, and mouse) provides important information about how mutations cause disease and can identify potential therapies. However, geneticists discovering genes that cause RD do not usually conduct research in model organisms, and model organism scientists are not usually aware of genes being discovered by geneticists. Thus, in 2014 we established the Canadian 'Rare Diseases: Models and Mechanisms' Network ('The RDMM Network') to a) connect geneticists discovering RD genes with model organism scientists able to study that gene and b) provide small grants to support collaborative research. The RDMM Network has engaged these communities, made connections for 72 RD genes, and funded 79 projects. Our research has already led to original scientific publications, successful large-scale grants, and identified two life-changing therapies. These results are very promising, and we want to expand the impact and reach of the RDMM Network. To do so we will: • Further engage the clinical and model organism communities • Enable connections when model organism expertise is not available in the country where the gene was discovered, by linking similar networks around the world • Support more projects by partnering with Canadian organizations interested in co-funding research. Building on our experience running the RDMM Network, we will support more than 50 collaborative projects to generate new knowledge that will improve the care of Canadians with RD.