Pediatric neurologist dedicates her career to leukodystrophies
Geneviève Bernard, MD, FRCPC, is this year’s recipient of the Prix d’excellence – Specialist of the Year award for Region 4
Scientist at the Research Institute of the McGill University Health Centre, associate professor at McGill University and pediatric neurologist at the Montreal Children’s Hospital, 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 per cent 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 and, with her research team, identified the genetic cause for POLR3-related leukodystrophy. With her international colleagues, she also developed best practices, including a consensus statement on the symptomatic management of leukodystrophy patients. Dr. Bernard 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).
With an inherent sense of humility, Dr. Bernard pursues excellence in all aspects of her medical practice. She is well-informed about respite care and what these programs can offer patients and caregivers. She is committed to “ensuring that the debilitating nature of leukodystrophies has as little impact on the everyday lives of her patients as possible,” declares Élisabeth Simard Tremblay, MD, FRCPC, pediatric neurologist and epileptologist at the Montreal Children’s Hospital.
Dr. Bernard credits learning a lot from her patients, especially from their resilience, which makes her a better doctor. “She has given her heart and soul to reconcile her clinical and lab work to find the cause for different forms of leukodystrophies and to identify the gene therapy that will save the children,” writes Mrs. Karine Dupuis, mother of Elliot and Samy, two of Dr. Bernard’s patients who died from a very rare degenerative disease at the ages of nine and five, respectively. Guided by her long-lasting relationships with her patients and caregivers, her students and her colleagues — both scientists and clinicians — Dr. Bernard wishes to pursue her calling and change the course of the disease so she can heal more of her patients.