Bernard Brais

Investigator
Professor of Neurology, McGill University
Co-director of the Rare Neurological Diseases Group, Montreal Neurological Institute and Hospital
NMD4C Working Group(s): Biobanking
Email BernardBiography
Bernard Brais, MDCM, MPhil, PhD, FRCP(C) is Full Professor of Neurology and Human Genetics at McGill University in Montreal. He is a trained neuromuscular neurologist, PhD in laboratory human genetics and historian of medicine. He is co-director of the Montreal Neurological Institute’s Rare Neurological Diseases Group since 2011. He is co-director of McGill’s Neuromuscular and Neurogenetics Fellowships. His specialized practice is centered on the diagnosis and rehabilitation of rare often undiagnosed neurogenetic diseases, in particular: myopathies, ataxias, sensory neuropathies and leukoencephalopathies. Dr. Brais’ laboratory for the past 20 years has largely focussed on identifying new genes and mutations that cause hereditary diseases that are more prevalent in the French Canadian population of Quebec due to founder effects. He played a key role in the first identification of the genes responsible for: Oculopharyngeal Muscular Dystrophy (PABPN1, 1998), Hereditary sensory and autonomic neuropathy type II (HSN2/WINK1, 2004), Limb Girdle Muscular dystrophy LGMD2L-anoctamin 5 (ANO5, 2010), Posterior column ataxia and retinitis pigmentosa (FLVCR1, 2010), 0PolR3-related leukodystrophy (POLR3A and POLR3B, 2011), and congenital myopathy with fibre type disproportion (ZAK, 2017). Since 2007, he has been an international leader on collaborative research on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).
Recent Publications
Alshimemeri, S, Abo Alsamh, D, Zhou, L, Furtado, S, Kraft, S, Bruno, V et al.. Demographics and Clinical Characteristics of Autosomal Dominant Spinocerebellar Ataxia in Canada. Mov Disord Clin Pract. 2023.10 (3)440-451 PMID:36949783
Dabbaghizadeh, A, Paré, A, Cheng-Boivin, Z, Dagher, R, Minotti, S, Dicaire, MJ et al.. The J Domain of Sacsin Disrupts Intermediate Filament Assembly. Int J Mol Sci. 2022.23 (24) PMID:36555380
Pellerin, D, Danzi, MC, Wilke, C, Renaud, M, Fazal, S, Dicaire, MJ et al.. Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. N Engl J Med. 2023.388 (2)128-141 PMID:36516086
Melkus, G, Sampaio, ML, Smith, IC, Rakhra, KS, Bourque, PR, Breiner, A et al.. Quantitative vs qualitative muscle MRI: Imaging biomarker in patients with Oculopharyngeal Muscular Dystrophy (OPMD). Neuromuscul Disord. 2023.33 (1)24-31 PMID:36462961
Francis, V, Alshafie, W, Kumar, R, Girard, M, Brais, B, McPherson, PS et al.. Correction: The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics. J Biol Chem. 2022.298 (12)102718 PMID:36446242
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