Bernard Brais, M.D., Ph.D.

Dr. Bernard Brais is an associate professor of the Faculty of Medicine at the Université de Montréal. He directs the Neurogenetics Laboratory at the CHUM Research Centre.

CONTACT

CHUM Research Centre – Hopital Notre-Dame
Laboratoire de neurogénétique de la motricité
Mailloux Building,
Room M-4211-L
2,099 Alexandre-de-Seve Street
Montreal, Quebec
Canada H2L 2W5

Phone: 514-890-8000, ext. 25315
Fax: 514-412-7525
E-mail: :bernard.brais@umontreal.ca

SUMMARY OF RESEARCH ACTIVITIES

Dr. Bernard Brais completed his multidisciplinary training in neurology, genetics and history of medicine to devote his career to the advancement of knowledge with respect to the genesis of Québec’s genetic heritage and its influence on health. His research program integrates the more general concerns about regional genetic heritages and their influence on the variable frequencies of mutation carriers. All his research projects are developed according to a positional cloning approach that is part of the larger perspective of identifying new neurogenetic diseases with a founder effect, in Québec. His work currently covers eleven diseases linked to a founder effect in Québec, seven of which are pathologies that have never been characterized before. Dr. Bernard Brais is a senior research scholar at the FRSQ and an associate professor in the Department of Medicine at the Université de Montréal. He has been in charge of the laboratory of neurogenetics of motion of the CHUM Research Centre at the Hôpital Notre-Dame, since 1998. The laboratory research focuses on three main research topics: muscular dystrophies, painful neuritis and ataxias. In 2006, the laboratory started a vast collaborative project on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), made possible by support from the Ataxia of Charlevoix-Saguenay Foundation, in order to relaunch research on this disease that is found most frequently in Québec.

STUDIED DISEASES

Ataxias, hereditary neuritis, muscular dystrophies, migraine.

SELECTED PUBLICATIONS

*student, **research assistant, *** nurse of Dr. Brais's team

Rossignol E*, Mathieu J, Thiffault I*, Tétreault M**, Dicaire MJ**, Chrestian N, Dupré N, Puymirat J, Brais B. (2007) A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians. Neurology. 2007 Nov 13;69(20):1937-41.

Jarry J*, Rioux MF*, Bolduc V*, Robitaille Y, Khoury V, Thiffault I*, Tétreault M**, Loisel L***, Bouchard JP, Brais B. (2006) A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. Brain. 2007 Feb;130(Pt 2):368-80. (Epub 2006 Sep 28)

Sasseville AMJ*, Caron AW, Bourget L, Klein AF*, Dicaire MJ**, Rouleau GA, Massie B, Langelier Y, Brais B. (2006) The dynamism of PABPN1 nuclear inclusions during the cell cycle, Neurobiology of Disease. 2006 Sep;23(3):621-9. (Epub 2006, Jul 24)

Tétreault M**, Duquette A*, Thiffault I*, Bherer C*, Jarry J*, Loisel L***, Banwell B, D’Anjou G, Mathieu J, Robitaille Y, Vanasse M, Brais B. (2005) A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21. Brain. 2006 Aug;129(Pt 8):2077-84. (Epub 2006 Jun 7)

Thiffault I*, Rioux MF*, Tétreault M**, Jarry J*, Loisel L***, Poirier J**, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B. (2006) A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. Brain. 2006 Sep;129 (Pt 9):2332-40. (Epub 2006 May 3)

Laberge AM*, Jomphe M, Houde L, Vezina H, Tremblay M, Desjardins B, Labuda D, St-Hilaire M, Macmillan C, Shoubridge EA, Brais B. (2005) A "Fille du Roy" Introduced the T14484C Leber Hereditary Optic Neuropathy Mutation in French Canadians, Am J Hum Genet. 2005 Aug;77(2):313-317. (Epub 2005 Jun 13)

Roddier K*, Thomas T*, Marleau G*, A. Gagnon AM*, Dicaire MJ**, Saint-Denis A**, Gosselin I*, Sarrazin AM, Larbrisseau A, Lambert M, Vanasse M, Gaudet D, Rouleau GA, Brais B. (2005) Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians, Neurology, 2005, May 24;64(10), 1762-1767.

Corbeil-Girard LP*, Klein AF*, Sasseville MJ*, Lavoie H*, Dicaire MJ**, Saint-Denis A**, Pagé M, Duranceau A, Codère F, Bouchard JP, Karpati G, Rouleau GA, Massie B, Langelier Y and Brais B (2005). PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions. Neurobiology of Disease. Apr;18 (3): 551-567.

Duquette A*, Roddier K*, McNabb-Baltar J*, Gosselin I*, St-Denis A**, Dicaire MJ**, Loisel L***, Labuda D, Marchand L, Mathieu J, Bouchard JP, Brais B. (2005) Mutations in senataxin responsible for a French-Canadian cluster of ataxia, Annals of Neurology, March, 57 (3): 408-414.

Lafrenière RG, MacDonal MLE, Dubé MP, MacFarlane J, O'Driscoll M, Meilleur S, Brinkman R, Davidas O, Pape T, Platon C, Radomski C, Risler J, Thompson J, Goldberg YP, Green R, Pryse-Phillips W, Pimstone SN, Davar G, Breakefield XO, Younghusband HB, Brais B, Hayden MR, Sherrington R, Rouleau GA, Samuels ME. (2004). Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the study of Canadian genetic isolates. American Journal of Human Genetics, 2004, May;74:1064-1073. (Epub 2004 Apr 1)

Lavoie H*, Debeane F*, Trinh QD*, Turcotte JF, Corbeil-Girard LP*, Dicaire MJ**, Saint-Denis A**, Pagé M**, Rouleau GA, Brais B. (2003) Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains, Human Molecular Genetics, Nov 15;12 (22):2967-2979. (Epub 2003 Sep 30)

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