معرفی
Geneviève Bernard, MD, M.Sc., FRCP(c) is a Senior Scientist at the Research Institute of the McGill University Health Centre (RI-MUHC) at the Glen site, where she leads research within the Child Health and Human Development Program and the Centre for Translational Biology. She holds an academic appointment as Associate Professor in the Department of Neurology and Neurosurgery at McGill University's Faculty of Medicine and Health Sciences, and also has an affiliation with the Department of Medicine, Division of Genetics at the MUHC.
Dr. Bernard is a clinician-scientist with expertise in pediatric neurodegenerative diseases, particularly leukodystrophies. Her research program focuses on hypomyelinating leukodystrophies, with a specific emphasis on POLR3-related or 4H leukodystrophy. She employs a comprehensive approach that spans from bedside to bench and back to bedside, addressing patients' needs through clinical assessment and laboratory research to develop targeted therapies.
Leukodystrophies are rare genetic diseases affecting previously healthy children, leading to progressive disability and often death months to years following onset. Dr. Bernard's research aims to discover gene mutations causing these disorders, characterize their molecular pathophysiology, describe disease progression and impact on patients and families, and identify potential disease-modifying therapies.
Her publication record demonstrates significant contributions to understanding the genetic and molecular basis of leukodystrophies, particularly those related to RNA polymerase III dysfunction. Her work has helped expand the phenotypic and molecular spectrum of these disorders and characterize the clinical manifestations associated with specific genetic mutations.
Dr. Bernard's research has important implications for improving medical care for children with leukodystrophies, ensuring sufficient data for upcoming therapeutic trials, and ultimately developing effective treatments for these devastating conditions.
