MEDICAL AND SCIENTIFIC ADVISORY BOARD: CHAIR
Geneviève Bernard, MD, MSc, FRCPc
McGill University Health Centre
Montreal, Quebec, Canada
Geneviève Bernard, MD, MSc, FRCPc, pediatric neurologist at the Montreal Children’s Hospital and a researcher with the Child Health and Human Development Program at the Research Institute of the McGill University Health Centre in Montreal.
Dr. Geneviève Bernard is a world-renowned expert on genetically determined white matter disorders, more specifically leukodystrophies. These rare and fatal neurodegenerative diseases typically develop in previously healthy children. Despite several advances over the last few decades, 20 to 30 percent of these children do not have a precise molecular diagnosis, and evidence-based data is strongly lacking.
Dr. Bernard established a comprehensive research program aimed at characterizing leukodystrophies clinically, radiologically, genetically and pathophysiologically. With her research team, identified the genetic cause for POLR3-related leukodystrophy. In the same vein, with her international colleagues, she also developed best practices. These include a consensus statement on the symptomatic management of leukodystrophy patients. Dr. Bernard has published over 80 peer-reviewed articles, including a genotype-phenotype correlation study in neurology.
“It is no wonder that patients are referred to her clinic from all over the world,” concludes Laurence Gauquelin, MD, FRCPC, pediatric neurologist at the Centre hospitalier de l’Université Laval (CHUL).