Genevieve Bernard, MD, M.Sc., FRCPC, Pediatric Neurologist

Neurology; Pediatric Neurodegenerative Diseases Laboratory
Fun fact about me 

I run.

I love working with children and their families because 
Children and their families are so courageous.... Everyday they teach us something.

Hospital information

Academic appointments 
  • Associate Professor, Departments of Neurology and Neurosurgery and Pediatrics, McGill University
  • Pediatric Neurologist, Department of Medical Genetics, Montreal Children’s Hospital
  • Junior Scientist, Child Health and Human Development Program, Research Institute of the McGill University Health Center


Medical Degree 

Université de Montréal


Pediatric Neurology, McGill University


Neurogenetics and Movement Disorders, Université de Montréal


Research interests 

I study neurodegenerative disorders in children with a special focus on leukodystrophies, a group of inherited white matter diseases of the brain. My research team is investigating the clinical and imaging characteristics of these diseases along with their genetic causes. Recently, my colleagues and I discovered three genes responsible for causing a relatively new form of hypomyelinating leukodystrophy called POLR3-related leukodystrophy. To build on these key findings, my laboratory is working on the identification of new forms of leukodystrophies and on characterizing the newly described POLR3-related leukodystrophy and understanding its pathophysiology. Our research program is expanding to include perspectives from the study of epidemiology, natural history, and quality-of-life impacts, with the ultimate objective of improving care for children who face the serious challenges associated with this disease group.

Research foci 
  • Leukodystrophies
  • Hypomyelinating leukodystrophies
  • POLR3-related or 4H leukodystrophy
  • Clinical, radiological, genetic and pathophysiological characterization
  • Impact of the disease on patients and families

Pediatric neurodegenerative disorders; leukodystrophies; hypomyelinating leukodystrophies; Pol III–related leukodystrophies; RNA polymerase III; myelination delay; gene identification; pathophysiology

Selected publications 

Thiffault I^, Wolf NI^, Forget D^, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Máté A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates III JR, Coulombe B**, Bernard G** Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nat Commun. 2015 Jul 7;6:7623 (PMID: 26151409).

Gutierrez M^*, Thiffault I^, Guerrero K, Martos-Moreno GA, Tran LT, Benko W, van der Knaap MS, van Spaendonk RML, Wolf NI…, Bernard G…. Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy. Orphanet J Rare Dis. 2015 Jun 5;10(1):69. (PMID: 26045207)

Wolf NI, Vanderver A, van Spaendonk RML, Schiffmann R, Brais B, Bugiani M, Sistermans EA, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S,  Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; On behalf of the 4H Research Group. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology 2014 Nov 18;83(21):1898-905 (PMID: 25339210).

Bernard G*, Vanderver A*, Pouwels PJW*, Wolf N*, Dreha-Kulczewski, Deoni S, Bertini E, Kohlschütter, Richardson W, ffrench-Constant C, Kölher W*, Rowitch D*, Barkovich AJ* Hypomyelinating leukodystrophies: Progress and prospects in translational research. Ann Neurol. 2014 Jul;76(1):5-19.

Daoud H*, Tetreault M*, Gibson W, Guerrero K, Cohen A, Gburek-Augustat J, Synofzik M, Brais B, Stevens C, Sanchez-Carpintero R, Goizet C, Naidu S, Vanderver A, Bernard G. Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies. J Med Genet. 2013 Jan 25.

Tétreault M*, Choquet K*, Orcesi S, Tonduti D, Balottin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G. Recessive mutations in POLR3B encoding the second largest subunit of Pol III cause a rare hypomyelinating leukodystrophy, Am J Hum Genet 2011 Nov 11;89(5):652-655 [Epub 2011 Oct 27].

Bernard G, Chouery E, Putorti ML, Tétreault M, Takanohashi A, Carosso G, Clément I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Megarbane A, Schiffmann R, Vanderver A, Brais B. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet 2011;89(3):415-423.

Bernard G, Thiffault I, Tetreault M, Putorti ML, Bouchard I, Sylvain M, Melançon S, Laframboise R, Langevin P, Bouchard J-P, Vanasse M, Vanderver A, Sébire G, Brais B. Tremor-Ataxia with Central Hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. Neurogenetics 2010 Oct;11(4):457-64.

See also:

Vrij-van den Bos S^, Hol JA^, La Piana R^, Harting I, Vanderver A, Barkhof F, Cayami F, van Wieringen WN, Pouwels PJW, van der Knaap MS, Bernard G^^, Wolf NI^^. 4H leukodystrophy: a brain MRI scoring system. Neuropediatrics 2017 Mar 1 [Epub ahead of print] (PMID: 28249300).

La Piana R^, Cayami FK^, Tran LT, Guerrero K, van Spaendonk RML, Õunap K, Pajusalu S, Prokisch H, Wassmer E, Timmann D, Mierzewska H, Poll-Thé BT, Patel C , Cox H, Atik T, Onay H, Ozkınay F, Vanderver A, van der Knaap MS, Wolf NI^^, Bernard G^^. Diffuse hypomyelination is not obligate for POLR3-related disorders, Neurology 2016 Apr 26;86(17):1622-6 (PMID:27029625).