Research Axis
Metabolic and Cardiovascular Health Axis
Research Theme
Genetic and metabolic diseases in Quebec: diagnosis, mechanisms and interventions
Address
CHUSJ
Phone
514 345-4931
Fax
514 345-4766
Career Summary
As a clinician and a biochemical and molecular geneticist, I have studied several pediatric hereditary diseases. My work has involved the identification and cloning of the genes responsible for a form of hereditary blindness (gyrate atrophy), three diseases of fat energy metabolism that can cause coma and low blood sugar in children, and hormone-sensitive lipase, an enzyme involved in diabetes and obesity. We are interested in engineering metabolic pathways to prevent or treat these diseases.
In collaboration with a group of colleagues, I conduct therapeutic research trials analyzing genetic diseases particularly common in Québec, including cytochrome oxidase deficiency (a cause of circulatory failure and strokes in children), as well as tyrosinemia and North American Indian Cirrhosis, both of which cause liver failure.