Bernard Brais, MD, PhD, MPhil, FRCPC
neuromuscular disorders • ataxia • neurogenetics • population genetics
My research focuses on the genetic basis of neurogenetic disorders with Quebec founder effects. It is focused on neuromuscular disorders. We have played an important role in the identification of the first mutations in the genes responsible for OPMD, HSANII, LGMD2L and TACH. Since 2002, I have become more involved in ataxia research. This continues to be an important part of my laboratory's research program and includes an extensive whole exome sequencing program in the context of the Genome Canada supported Care for Rare project. Since 2007, A very significant part of my work has been in close collaboration with the Fondation de l'Ataxie de Charlevoix-Saguenay as group leader of a CIHR new emerging team on rare diseases. My research program is therefore an integrative translational one, centered on genetic diseases more frequent in the population of Quebec.
Brais B, Bouchard JP, Xie YG, Rochefort DL, Chretien N, Tomé FMS, Lafrenière RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD, Heutink P, Mathieu J, Duranceau A, Codère F, Fardeau M, Rouleau GA. (1998) Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nature Genetics, 18: 164-167.
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)
Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WHJP, Mahjneh I, De Visser M, Bashir R, Brais B. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet. 2010 Feb 12;86(2):213-21. Epub 2010 Jan 21.
Bernard G, Chouery E, Putorti ML, Tetreault M, Takanohashi A, Carosso G, Clement I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Mergabane 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 Sep 9;89(3):415-23.
Girard M, Lariviere R, Parfitt DA, Deane EC, Gaudet R, Nossova N, Blondeau F, Prenosil G, Vermeulen EG, Duchen MR, Richter A, Shoubridge EA, Gehring K, McKinney RA, Brais B, Chapple JP, McPherson PS. Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Proc Natl Acad Sci USA. 2012 Jan 31;109(5):1661-6.