POLR3-related (4H) leukodystrophy and disorders: An introduction to the clinical manifestations

Geneviève Bernard, MD, MSc, FRCPc, is an Associate Professor at McGill University, in the Departments of Neurology and Neurosurgery, Pediatrics and an associate member of the Department of Human Genetics. She is a member of the Medical Genetics Division at the McGill University Health Center (MUHC) and a scientist at the MUHC research institute. Dr. Bernard and her team, together with her international collaborators, discovered three genes responsible for 4H leukodystrophy and published, in collaboration with Dr. Nicole Wolf and numerous international collaborators, the largest clinical, radiological and genetic characterization studies on this disorder.