Department of Molecular Medicine,
Université Laval –

In vivo genome editing as a novel class of human therapeutics to treat pediatric metabolic disorders

Genetic disorders in children are individually rare but collectively frequent, affecting the lives of approximately 500,000 children in Canada. They often are serious, life threatening or fatal, but because each rare disease affects a relatively small population few treatments have been developed.

Efforts by national and international groups such as the Canadian Pediatric Genetic Disorders Sequencing Consortium (FORGE) and the International Rare Disease Research Consortium (IRDiRC) are uncovering disease-causing genes that could be corrected through genetic therapies. Our goal is to translate an innovative genome editing technology 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.