Grant: Project Grant

About 1 in 12 Canadians, two-thirds of them being children, are affected by a rare disorder according to the Canadian Organization for Rare Disorders. Thus, while these genetic diseases are individually rare, they are collectively frequent. They often are serious, life threatening or fatal, but because each rare disease affects a relatively small population of children few treatments have been developed. Massive efforts in genomic medicine have led to the uncovering of disease-causing genes that could be corrected through genetic therapies. Our goal is to translate an innovative genome editing technology named CRISPR-Cas9 into a novel class of human therapeutics that enables precise molecular modification of a genetic defect. Our long-term objective is to develop gene therapies to treat rare inherited metabolic diseases affecting children. Ultimately, this research proposal may lead to significant improvements in quality of life for children and their families affected by rare diseases.