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).
Bourcier, D, Bélair, N, Pedneault-Tremblay, ÉA, Lessard, I, Klockgether, T, Synofzik, M et al.. French Translation and Cross-cultural Adaptation of the Scale for the Assessment and Rating of Ataxia. Cerebellum. 2022. PMID:36208403
Tremblay, M, Girard-Côté, L, Brais, B, Gagnon, C. Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome. Orphanet J Rare Dis. 2022.17 (1)369 PMID:36183078
Huang, YT, Giacomini, PS, Massie, R, Venkateswaran, S, Trudelle, AM, Fadda, G et al.. The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders. Front Neurol. 2022.13 928493 PMID:35959404
Francis, V, Alshafie, W, Kumar, R, Girard, M, Brais, B, McPherson, PS et al.. The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics. J Biol Chem. 2022.298 (9)102320 PMID:35933016
Jardim, LB, Hasan, A, Kuo, SH, Magaña, JJ, França, M Jr, Marques, W Jr et al.. An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean. Cerebellum. 2022. PMID:35796998See more on PubMed