Sylvia Stockler

MD

Investigator and Clinical Biochemical Geneticist, BC Children's Hospital
Professor of Pediatrics, Department of Pediatrics, Faculty of Medicine, University of British Columbia

My research concentrates on the pathobiochemistry of genetic neurometabolic diseases. We are using an integrated approach based on clinical, biochemical, molecular genetic, magnetic resonance spectroscopy (MRS), and imaging analyses to study two disease groups as a model for this. First, creatine deficiency syndromes: three novel genetic disorders of creatine synthesis and transport in the brain. Clinical features include mental retardation, expressive speech delay, and epilepsy. We study the three diseases on all levels, from an epidemiological description of molecular defects to an evaluation of treatment. The second group are disorders of energy substrate depletion in the developing brain (fatty acid oxidation defects, persistent hyperinsulinemic hypoglycemia). We are interested in the potential of ketone bodies and anaplerotic substrates to prevent brain injury caused by this. Our paramount aim is to develop improved treatment strategies in both disease groups and extend them to other metabolic diseases of the brain.