Our research
Dr Geneviève Bernard
Dr Geneviève Bernard
Leukodystrophies and genetically-determined leukoencephalopathies are a group of rare genetic diseases affecting previously healthy individuals. Most of these diseases are degenerative and affect primarily children. Leukodystrophies and genetically-determined leukoencephalopathies are caused by abnormalities in myelin or white matter, wh
Leukodystrophies and genetically-determined leukoencephalopathies are a group of rare genetic diseases affecting previously healthy individuals. Most of these diseases are degenerative and affect primarily children. Leukodystrophies and genetically-determined leukoencephalopathies are caused by abnormalities in myelin or white matter, which is involved in protecting neurons, or nerve cells, and ensure the rapid conduction of nerve impulses. Dr. Geneviève Bernard’s research program addresses the main knowledge gaps for this group of diseases and includes the following broad aims: (1) clinical and radiological characterization of leukodystrophies, (2) description of their natural history, (3) description of their impact on patients and their families (quality of life, stress), (4) identification of new causal genes, (5) study of their pathophysiology, (6) development of novel therapeutic strategies and, (7) development and participation in future therapeutic trials.
Dr Geneviève Bernard
Dr Geneviève Bernard
Dr Geneviève Bernard
Dr. Geneviève Bernard received her Medical Degree (2002) and Master’s degree in Neurosciences (2003) from Université de Montréal. She completed her residency in Pediatric Neurology at McGill University (2008) and her fellowship in Neurogenetics and Movement Disorders at Université de Montréal (2011) under the supervision of Pr. Bernard Br
Dr. Geneviève Bernard received her Medical Degree (2002) and Master’s degree in Neurosciences (2003) from Université de Montréal. She completed her residency in Pediatric Neurology at McGill University (2008) and her fellowship in Neurogenetics and Movement Disorders at Université de Montréal (2011) under the supervision of Pr. Bernard Brais, Pr. Guy A Rouleau and Dr. Sylvain Chouinard. She started her career as an independent investigator and pediatric neurologist in October 2011 at the Montreal Children’s Hospital of the McGill University Health Center (MUHC) and MUHC Research Institute. She is currently an Associate Professor at McGill University, in the Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics. She is a member of the Medical Genetics Division at the MUHC. Dr. Bernard and her team, together with her international collaborators, discovered the 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 study on this disorder. Dr. Bernard published more than 75 peer-reviewed publications, including some in high impact factor journals, several book chapters and numerous abstracts. She is the Canadian representative on several international consortia, including the Global Leukodystrophy InitiAtive (GLIA), ALD connect and the tRNA synthetases disorders research consortia.
Our team
Dr Geneviève Bernard
Our team
- Luan T Tran MSc, clinical research assistant
- Simon Fournier MSc, clinical research assistant
- Xiaoru Chen PhD, research associate
- Stefanie Perrier, PhD candidate
- Mackenzie Michell-Robinson Msc, MD-PhD candidate
- Alexandra Chapleau, PhD candidate
- Helia Toutounchi, MSc candidate
- Julia Macintosh, MSc candidate
- Neeti Jain, MSc candidate
- Laura Lentini, M
- Luan T Tran MSc, clinical research assistant
- Simon Fournier MSc, clinical research assistant
- Xiaoru Chen PhD, research associate
- Stefanie Perrier, PhD candidate
- Mackenzie Michell-Robinson Msc, MD-PhD candidate
- Alexandra Chapleau, PhD candidate
- Helia Toutounchi, MSc candidate
- Julia Macintosh, MSc candidate
- Neeti Jain, MSc candidate
- Laura Lentini, MSc candidate
- Amytice Mirchi, MD, pediatric neurology resident
- Several medical students, residents and volunteers
Previous students:
- Mariana Gutierrez-Salazar, MSc
- Travis Moore, MSc
- Aaron Sphar, MSc
- Alexa Derksen, MSc
Our publications
Selected publications
1) Lemire G, Ito YA, Marshall AE, Chrestian N, Stanley V, Brady L, Tarnopolsky M, Curry CJ, Hartley T, Mears W, Derksen A, Rioux N, Laflamme N, Hutchison HT, Pais LS, Zaki MS, Sultan T, Dane AD, Care4Rare Canada Consortium, Gleeson JG, Vaz FM, Kernohan KD, Bernard G^^, Boycott KM^^. ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and anomalies of the corpus callosum and cerebral white matter. Am J Hum Genet. 2021 Oct 7;108(10):2017-2023. Epub 2021 Sep 28. doi: 10.1016/j.ajhg.2021.09.005. (PMID: 34587489) IF: 10.502
2) Derksen A^, Shih HY^, Forget D, Darbelli L, Tran LT, Poitras C, Guerrero K, Tharun S, Alkuraya FS, Kurdi WI, Nguyen CTE, Laberge AM, Si Y, Gauthier MS, Bonkowsky J^^, Coulombe B^^, Bernard G^^. Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra rare neurological disease. Human Genetics and Genomics Advances (HGG) 2021 Jul 08;2(3):1-13. https://doi.org/10.1016/j.xhgg.2021.100034.
3) Spahr A, Rosli Z, Legault M, Tran LT, Fournier S, Toutounchi H, Darbelli L, Medjar C, Lucia C, St-Jean ML, Das S, Evans AC, Bernard G. The LORIS MyeliNeuroGene Rare Disease Database for Natural History Studies and Clinical Trial Readiness. Orphanet J Rare Dis. 2021 Jul 23;16(1):328. https://doi.org/10.1186/s13023-021-01953-8 (PMID: 34301277). IF: 3.687 *
4) Perrier S^, Robinson-Michell M^, Bernard G. POLR3-related Leukodystrophy: Exploring Potential Therapeutic Approaches. Front Cell Neurosci, 2021 Jan 28; 14: 631802. https://doi.org/10.3389/fncel.2020.631802. IF: 4.55 *
5) Pelletier F^, Perrier S^, Cayami FK^, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sebire G, Marques Lourenco C, Bonkowsky JL, Catsman-Berrevoets C , Pinto PS, Tirupathi S, Stromme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Marfa MP, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg BP, Vázquez-López M, Venkateswaran S, Wasling P, Wassmer E, Webster RI, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap M, Vanderver A, Martos-Moreno GA, Polychronakos C^, Wolf NI ^, Bernard G^. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700. (PMID: 33005949). IF: 5.05 *
6) Perrier S^, Gauquelin L^, Fallet-Bianco C, Dishop MK, Michell-Robinson MA, Tran LT, Guerrero K, Darbelli L, Srour M, Petrecca K, Renaud DL, Saito M, Cohen, S, Leiz S, Alhaddad B, Haack TB, Tejera-Martin I, Monton FI, Rodriguez Espinosa N, Pohl D, Nageswaran S, Grefe A, Glamuzina E, Bernard G. Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy. Neurol Genet, 2020 May 11;6(3):e425. doi: https://doi.org/10.1212/NXG.0000000000000425. (PMID:32582862)*
7) Vanderver A^, Bernard G^, Helman G, Sherbini O, Boeck R, Cohn J, Collins A, Demarest S, Dobbins K, Emrick L, Fraser J, Masser-Frye D, Hayward J, Karmarkar S, Keller S, Mirrop S, Mitchell W, Pathak S, Sherr E, van Haren K, Waters E, Wilson JL, Zhorne L, Schiffmann R, van der Knaap MS, Pizzino A, Dubbs H, Shults J, Simons C, Taft RJ, on behalf of the LeukoSEQ Workgroup. Randomized clinical trial of first-line genome sequencing in pediatric white matter disorders. Clinical trial of first-line genome sequencing in pediatric white matter disease. Ann Neurol. 2020 Apr 28. doi: 10.1002/ana.25757. [Epub ahead of print] (PMID: 32342562) IF: 9.496
8) Gauquelin L^, Cayami FK^, Sztriha L, Yoon G, Tran LT, Guerrero K, Hocke F, Fung EL, D’Arrigo S, Vasco G, Thiffault I, Niyazov DM, Person R, Lewis K, Wassmer E, Prescott T, Fallon P, McEntagart M, Rankin J, Webster R, Phlilppi H, van de Warrenburg B, Timmann-Braun D, Dixit A, Searle C, DDD study, Goizet C, Wolf NI^^, Bernard G^^. Clinical spectrum of POLR3-related leukodystrophy caused by POLR1C mutations. Neurology Genetics. Dec 2019; 5(6):e369. doi: 10.1212/NXG.0000000000000369 * (PMID: 32042905)
9) Friedman J^, Smith DE^, Issa MY, Stanley V, Wang R, Mendes MI, Wright M, Wigby K, Hildreth A, Crawford J, Koehler AE, Chowdhury S, Nahas S, Zhai L, Xu Z, Lo WS, Musaev D, Accogli A, Guerrero K, Tran LT, Ben-Omran T, Salomons GS, Zaki MS, Bernard G^^, Gleeson JG^^. Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. Nat Commun 2019 Feb 12;10(1):707. doi: 10.1038/s41467-018-07067-3 (PMID: 30755602). IF: 12.124
10) Mendes MI^, Gutierrez Salazar M^, Guerrero K^, Thiffault I, Salomons GS, Gauquelin L, Tran LT, Forget D, Gauthier MS, Waisfisz Q, Smith DEC, Simons C, van der Knaap MS, Marquardt I, Lemes A, Mierzewska H, Weschke B, Koehler W, Coulombe B, Wolf NI^^, Bernard G^^. Bi-allelic mutations in EPRS, encoding the glutamyl-prolyl-aminoacyl-tRNA synthetase, cause a Hypomyelinating Leukodystrophy. Am J Hum Genet 2018, Apr 5;102(4):676-684. doi: 10.1016/j.ajhg.2018.02.011 (PMID: 29576217) IF: 9.025 *
11) 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. Nature Commun. 2015 Jul 7;6:7623. doi: 10.1038/ncomms8623 (PMID: 26151409). IF: 11.470
12) 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 POLR3Aand POLR3B mutations. Neurology2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002 (PMID: 25339210) IF: 8.286
13) 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. doi: 10.16/j.ajhg.2011.10.006 (PMID: 22036172) IF: 11.202 *
14) 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. doi: 10.1016/j.ajhg.2011.07.014 (PMID: 21855841) IF: 11.202
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