Grant: Project Grant

Intellectual disability is a life-long condition characterized by deficits in cognitive functioning and adaptive skills that affects 2-3% of Canadians. Intellectual disability has enormous clinical, educational, social and emotional costs for affected individuals, their families, and society as a whole. There are many different causes of intellectual disability. At least half of all moderate-to-severe intellectual disability has a genetic cause, but current genomic screening tests do not identify some kinds of mutations that we know can cause intellectual disability. Our project will use state-of-the-art genomics and bioinformatics approaches to develop robust tools to identify disease-causing mutations that are not currently being detected and will demonstrate the clinical utility of these novel approaches through translational research.