Grant: Research Network: Rare Diseases

The human genome is made up of approximately 22,000 functional units known as genes. Mutations in these genes can cause thousands of rare but nonetheless serious diseases impacting hundreds of thousands of Canadians (www.raredisorders.ca). A new and powerful DNA sequencing method, called next-generation sequencing, is facilitating the identification of new disease genes at an accelerated rate, a trend that will likely continue into the near future. The identification of a gene mutation that causes a human disease is a breakthrough discovery, but to realize benefit to patients, subsequent studies on the basic function of the gene and the functional consequences of the specific gene mutations in a biological context are required. Most rare diseases are not the focus of a research laboratory, which greatly limits our ability to discover new effective therapies. Insight into most human rare diseases can be informed through analysis of the equivalent genes and pathways in an experimental organism, because nature reuses the same building blocks to construct organisms as different as yeast, worms, flies, fish, mice and humans. It is on this backdrop that we will establish a national network, Canadian "Rare Diseases: Models and Mechanisms" (RDMM), that will mobilize the entire Canadian biomedical community of laboratory scientists and clinicians to communicate and connect; integrate and share their resources and expertise; and, work together to provide functional insights into newly discovered rare disease genes. We will award about 90 catalyst grants over 3 years to pro-actively link the most relevant scientists with clinicians identifying disease genes to support immediate experiments. The work of the RDMM will lead to improved understanding of how specific gene mutations cause rare diseases, which will ultimately generate therapeutic leads and experimental approaches for further development.