Faculty profile

Geneviève Bernard

ResearcherNeurology and NeurosurgeryMcGill University

This profile is built from public research funding records (CIHR, NSERC and SSHRC) and PubMed. We have not imported them from a McGill University directory, so their courses may be missing. Find their university profile.

Geneviève Bernard

Researcher

Neurology and Neurosurgery

Health Sciences

McGill University

Montreal, Quebec, Canada

Supervision signals

Has led research grants, which requires an independent research appointment. Ask their department whether they supervise graduate students.
2 publications in the last five years, latest in 2024.
Principal investigator on 10 research grants (10 CIHR), most recently in 2025.
Supervised 2 trainees who won CIHR awards, most recently in 2021.

These signals come from public records, including CIHR, NSERC and SSHRC funding decisions. Ask the professor or the graduate program whether they are taking new students.

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Grants

Publications by year

Counts cover the works listed on the university profile; citation counts come from Dimensions.

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Signals and details

Research

Leukodystrophies Polr3-Related Leukodystrophy Hypomyelinating Leukodystrophies Genetic Leukoencephalopathies Rare Diseases Adeno-Associated Virus Cellular Models Gene Therapy

Latest papers

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.
Molecular genetics and metabolism · 2024
Therapy Trial Design in Vanishing White Matter: An Expert Consortium Opinion.
Neurology. Genetics · 2022
Genome sequencing in persistently unsolved white matter disorders.
Annals of clinical and translational neurology · 2020

All 14 publications

Latest funding

Uniting Canada's Leukodystrophy Community: The CARELeuko Mandate to Drive Collaboration and Accelerate Research and Care
CIHR · 2025 · Nominated PI
$20,000
RareKids-CAN: Pediatric Rare Disease Clinical Trials and Treatment Network
CIHR · 2023 · Principal investigator
$19,999,843
RNA polymerase III-related leukodystrophy: Understanding disease pathogenesis and developing novel therapeutic approaches using murine models
CIHR · 2023 · Nominated PI
$994,500

All 12 grants and awards

14 publications.

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.

Adang LA, Groeschel S, Grzyb C, D'Aiello R, Gavazzi F, Sherbini O, Bronner N, Patel A, Vincent A, Sevagamoorthy A, Mutua S, Muirhead K, Schmidt J, Pizzino A, Yu E, Jin D, Eichler F, Fraser JL, Emrick L, Van Haren K, Boulanger JM, Ruzhnikov M, Sylvain M, Nguyen CÉ, Potic A, Keller S, Fatemi A, Uebergang E, Poe M, Yazdani PA, Bernat J, Lindstrom K, Bonkowsky JL, Bernard G, Stutterd CA, Orchard P, Gupta AO, Ljungberg M, Groenborg S, Zambon A, Locatelli S, Fumagalli F, Elguen S, Kehrer C, Krägeloh-Mann I, Shults J, Vanderver A, Escolar ML

Molecular genetics and metabolism2024

DOI: 10.1016/j.ymgme.2024.108521 PMID: 38964050

Therapy Trial Design in Vanishing White Matter: An Expert Consortium Opinion.

van der Knaap MS, Bonkowsky JL, Vanderver A, Schiffmann R, Krägeloh-Mann I, Bertini E, Bernard G, Fatemi SA, Wolf NI, Saunier-Vivar E, Rauner R, Dekker H, van Bokhoven P, van de Ven P, Leferink PS

Neurology. Genetics2022

DOI: 10.1212/nxg.0000000000000657 PMID: 35128050

Genome sequencing in persistently unsolved white matter disorders.

Helman G, Lajoie BR, Crawford J, Takanohashi A, Walkiewicz M, Dolzhenko E, Gross AM, Gainullin VG, Bent SJ, Jenkinson EM, Ferdinandusse S, Waterham HR, Dorboz I, Bertini E, Miyake N, Wolf NI, Abbink TEM, Kirwin SM, Tan CM, Hobson GM, Guo L, Ikegawa S, Pizzino A, Schmidt JL, Bernard G, Schiffmann R, van der Knaap MS, Simons C, Taft RJ, Vanderver A

Annals of clinical and translational neurology2020

DOI: 10.1002/acn3.50957 PMID: 31912665

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.

Mendes MI, Green LMC, Bertini E, Tonduti D, Aiello C, Smith D, Salsano E, Beerepoot S, Hertecant J, von Spiczak S, Livingston JH, Emrick L, Fraser J, Russell L, Bernard G, Magri S, Di Bella D, Taroni F, Koenig MK, Moroni I, Cappuccio G, Brunetti-Pierri N, Rhee J, Mendelsohn BA, Helbig I, Helbig K, Muhle H, Ismayl O, Vanderver AL, Salomons GS, van der Knaap MS, Wolf NI

Annals of clinical and translational neurology2020

DOI: 10.1002/acn3.50960 PMID: 31814314

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.

Adang LA, Sherbini O, Ball L, Bloom M, Darbari A, Amartino H, DiVito D, Eichler F, Escolar M, Evans SH, Fatemi A, Fraser J, Hollowell L, Jaffe N, Joseph C, Karpinski M, Keller S, Maddock R, Mancilla E, McClary B, Mertz J, Morgart K, Langan T, Leventer R, Parikh S, Pizzino A, Prange E, Renaud DL, Rizzo W, Shapiro J, Suhr D, Suhr T, Tonduti D, Waggoner J, Waldman A, Wolf NI, Zerem A, Bonkowsky JL, Bernard G, van Haren K, Vanderver A, Global Leukodystrophy Initiative (GLIA) Consortium

Molecular genetics and metabolism2017

DOI: 10.1016/j.ymgme.2017.08.006 PMID: 28863857

Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.

Kernohan KD, Dyment DA, Pupavac M, Cramer Z, McBride A, Bernard G, Straub I, Tetreault M, Hartley T, Huang L, Sell E, Majewski J, Rosenblatt DS, Shoubridge E, Mhanni A, Myers T, Proud V, Vergano S, Spangler B, Farrow E, Kussman J, Safina N, Care4Rare Consortium, Saunders C, Boycott KM, Thiffault I

Human mutation2017

DOI: 10.1002/humu.23196 PMID: 28185376

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Ulrick N, Goldstein A, Simons C, Taft RJ, Helman G, Pizzino A, Bloom M, Vogt J, Pysden K, Diodato D, Martinelli D, Monavari A, Buhas D, van Karnebeek CD, Dorboz I, Boespflug-Tanguy O, Rodriguez D, Tétreault M, Majewski J, Bernard G, Ng YS, Care4Rare Canada Consortium, McFarland R, Vanderver A

Pediatric neurology2017

DOI: 10.1016/j.pediatrneurol.2016.09.003 PMID: 27843092

Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene.

La Piana R, Vanasse M, Brais B, Bernard G

Journal of child neurology2015Senior author

DOI: 10.1177/0883073814555189 PMID: 25380603

Disease specific therapies in leukodystrophies and leukoencephalopathies.

Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A, GLIA Consortium

Molecular genetics and metabolism2015

DOI: 10.1016/j.ymgme.2015.01.014 PMID: 25684057

Consensus statement on preventive and symptomatic care of leukodystrophy patients.

Van Haren K, Bonkowsky JL, Bernard G, Murphy JL, Pizzino A, Helman G, Suhr D, Waggoner J, Hobson D, Vanderver A, Patterson MC, GLIA Consortium

Molecular genetics and metabolism2015

DOI: 10.1016/j.ymgme.2014.12.433 PMID: 25577286

Uniting Canada's Leukodystrophy Community: The CARELeuko Mandate to Drive Collaboration and Accelerate Research and Care

Nominated PICIHR2025Planning and Dissemination Grant - Institute Community Support

Principal investigators: Bernard, Geneviève

Keywords: Collaborative Care; Genetic Leukoencephalopathies; Knowledge Translation; Leukodystrophies; Patient Engagement; Rare Diseases; Research Symposium

$20,000

RareKids-CAN: Pediatric Rare Disease Clinical Trials and Treatment Network

Principal investigatorCIHR2023Team Grant: Pediatric Rare Disease Clinical Network

Principal investigators: Lacaze-Masmonteil, Thierry; Anagnostou, Evdokia; Baribeau, Danielle A; Batthish, Michelle; Bernard, Geneviève; Bernier, Francois P; Butcher, Nancy J; Campbell, Craig Gordon N; Cross, Andrea; Dyack, Sarah; Gantt, Soren M; Gravel, Christopher; Haddad, Elie; Heath, Anna; Kelly, Lauren; King, Alexandra; Klassen, Terry P; Knisley, Lisa; Lai, Meng-Chuan; Lewis, Tamorah R; Marwaha, Ashish K; McBride, Kim; Mitchell, John J; Moore Hepburn, Charlotte; Mooser, Vincent E; Myers, Kenneth A; Offringa, Martin; Oskoui, Maryam; Portales-Casamar, Elodie; Pot, Sara; Potter, Elizabeth K; Richer, Lawrence P; Round, Jeff; Stewart, Breanne; Subbarao, Padmaja; Thebaud, Bernard; Turvey, Stuart E; Ward, Leanne M; Wong-Rieger, Durhane; Wright, Nicola A; Yeh, Ann E.

Keywords: Child Health; Data Science; Drug Development; Paediatric Clinical Research Units; Paediatric Clinical Trials; Patient And Public Involvement; Patient Registries; Precision Medicine; Rare Diseases; Real-World Evidence

$19,999,843

RNA polymerase III-related leukodystrophy: Understanding disease pathogenesis and developing novel therapeutic approaches using murine models

Nominated PICIHR2023Project Grant

Principal investigators: Bernard, Geneviève

Keywords: Adeno-Associated Virus; Cellular Models; Gene Therapy; Mouse Models; Myelination; Oligodendrocyte Progenitor Cells And Oligodendrocytes; Polr3-Related Leukodystrophy; Rna Polymerase Iii; Small Molecule Therapy

$994,500

RNA polymerase III-related leukodystrophy: Understanding disease pathogenesis and developing novel therapeutic approaches using murine models

Nominated PICIHR2022Pr. Gr. - PA: Human Development Child and Youth Health - Mid Career Support

Principal investigators: Bernard, Geneviève

Keywords: Adeno-Associated Virus; Cellular Models; Gene Therapy; Mouse Models; Myelination; Oligodendrocyte Progenitor Cells; Oligodendrocytes; Polr3-Related Leukodystrophy; Rna Polymerase Iii; Small Molecule Therapy

$100,000

EPRS1-related leukodystrophy: generation of a representative cellular model to study disease pathophysiology and potential therapeutic avenues using patient-derived iPSCs

SupervisorCIHR2021Doctoral Research Award: Canada Graduate Scholarships

Principal investigators: Chapleau, Alexandra K

Keywords: Aminoacyl Trna Synthetases; Cell Culture; Disease Modelling; Eprs1; Genetic Engineering; Hypomyelination; Induced Pluripotent Stem Cells (Ipscs); Leukodystrophy; Oligodendrocytes; Translation

$105,000

Unraveling the molecular basis of novel forms of hypomyelinating leukodystrophies

Nominated PICIHR2019Project Grant

Principal investigators: Bernard, Geneviève

Keywords: Eprs1-Related Leukodystrophy; Gene Discovery; Hypomyelinating Leukodystrophies; Induced Pluripotent Stem Cells; Myelination Studies; Next Generation Sequencing; Oligodendrocyte Progenitor Cells / Oligodendrocytes; Polr3-Related Leukodystrophy; Proteomics; Rare Diseases

$1,113,075

Canadian Leukodystrophy Conference for Patients and Families: Current and Novel therapies

Nominated PICIHR2017Planning and Dissemination Grant - Institute Community Support

Principal investigators: Bernard, Geneviève

Keywords: Current Therapies; Enzyme Replacement Therapy; Ex Vivo Gene Therapy; Family Conference; Gene Editing; Genetic Leukoencephalopathies; In Vivo Gene Therapy; Leukodystrophies; Novel Therapies

$20,000

Unraveling the molecular basis of novel forms of hypomyelinating leukodystrophies

Nominated PICIHR2016Project Grant

Principal investigators: Bernard, Geneviève

Keywords: 4h Leukodystrophy; Genomics; Hypomyelinating Leukodystrophies; Leukodystrophies; Pathophysiology; Proteomics; Trna Synthetases

$563,959

POLR3-related leukodystrophy: From bench to bedside

Nominated PICIHR2015Operating Grant

Principal investigators: Bernard, Geneviève

Keywords: 4h Leukodystrophy; Hypomyelination; Magnetic Resonance Imaging; Mouse Model; Natural History Study; Next Generation Sequencing; Pathophysiological Mechanisms; Polr3-Related Leukodystrophy; Polymerase Iii; Rna Sequenging

$100,000

Leukodystrophy: A Translational Research Program

Nominated PICIHR2015CIHR New Investigator

Principal investigators: Bernard, Geneviève

Keywords: Clinical Characterization; Genetic Characterization; Hypomyelinating Leukodystrophies; Leukodystrophies; Mri Characterization; Pathophysiological Characterization; Polr3-Related (4h) Leukodystrophy

$300,000

From CIHR, NSERC and SSHRC funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998, including their latest published competition results.

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Geneviève Bernard

Research

Latest papers

Latest funding

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.

Therapy Trial Design in Vanishing White Matter: An Expert Consortium Opinion.

Genome sequencing in persistently unsolved white matter disorders.

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.

Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene.

Disease specific therapies in leukodystrophies and leukoencephalopathies.

Consensus statement on preventive and symptomatic care of leukodystrophy patients.

Uniting Canada's Leukodystrophy Community: The CARELeuko Mandate to Drive Collaboration and Accelerate Research and Care

RareKids-CAN: Pediatric Rare Disease Clinical Trials and Treatment Network

RNA polymerase III-related leukodystrophy: Understanding disease pathogenesis and developing novel therapeutic approaches using murine models

RNA polymerase III-related leukodystrophy: Understanding disease pathogenesis and developing novel therapeutic approaches using murine models

EPRS1-related leukodystrophy: generation of a representative cellular model to study disease pathophysiology and potential therapeutic avenues using patient-derived iPSCs

Unraveling the molecular basis of novel forms of hypomyelinating leukodystrophies

Canadian Leukodystrophy Conference for Patients and Families: Current and Novel therapies

Unraveling the molecular basis of novel forms of hypomyelinating leukodystrophies

POLR3-related leukodystrophy: From bench to bedside

Leukodystrophy: A Translational Research Program

Frequent collaborators

Jacek Majewski

Bernard Brais

Roberta La Piana

Eric Shoubridge

Taila Hartley

Nancy Braverman