Grant: Project Grant

Each rare disease affects only a small number of individuals, but together these disorders affect millions of patients in Canada. Most rare diseases have a firm genetic basis, and thousands of disease genes have already been reported. However, how these genetic variants cause disease at the molecular level is often unclear. We will take rare disease research to the genomic era and systematically characterize the molecular phenotype of ~2,000 mutant variants underlying almost a thousand different rare diseases. This project will transform our understanding of the molecular mechanisms underlying rare disorders and provide a springboard for drug discovery in neglected diseases.