Guy A. Rouleau, M.D., Ph.D., FRCPC, OQ
Dr. Guy A. Rouleau is full professor at the Faculty of Medicine, Université de Montréal. In addition to directing his own research laboratory, he also directs the CHU Ste-Justine Research Centre, the Centre of Excellence in Neuromics of the Université de Montréal (CENUM) and the Réseau de Médecine Génétique Appliquée du Québec.
CHUM Research Centre
Canada H2L 2W5
Phone: 514-890-8000 extension 24699
SUMMARY OF RESEARCH ACTIVITIES
Over the past 20 years, the research work done by Dr. Rouleau has mainly concentrated on the understanding of brain and nervous system diseases. During this time, his research team identified a dozen genes responsible for disease, contributed to the localization of a dozen supplementary genes and worked on better understanding the molecular mechanisms underlying disease symptoms. Dr. Rouleau’s research activities can be divided into two categories: identifying the genes causing brain and nervous system diseases and studying the mechanisms of molecular pathogenesis.
Dr. Rouleau’s research focuses on several neurological and psychiatric diseases including amyotrophic lateral sclerosis, oculopharyngeal muscular dystrophy, hereditary sensory autonomic neuropathies, familial aneurysms, cavernous angiomas, epilepsy, spinocerebellar ataxias, spastic paraplegia, autism, Tourette syndrome, restless leg
syndrome and schizophrenia.
Kabashi E, Valdmanis, PN Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigayeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA. TDP-43 mutations in sporadic and familial ALS patients. Nat Genet 2008 in press
Valdmanis PN, Rouleau GA. Genetics of familial amyotrophic lateral sclerosis. Neurology. 2008 Jan 8;70(2):144-52. Review.
Salin-Cantegrel A, Rivière JB, Dupré N, Charron FM, Shekarabi M, Karéméra L, Gaspar C, Horst J, Tekin M, Deda G, Krause A, Lippert MM, Willemsen MA, Jarrar R, Lapointe JY, Rouleau GA. Distal truncation of KCC3 in non-French Canadian HMSN/ACC families. Neurology. 2007 Sep 25;69(13):1350-5.
Winkelmann J, Schormair B, Lichtner P, Ripke S, Xiong L, Jalilzadeh S, Fulda S, Pütz B, Eckstein G, Hauk S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Peglau I, Eisensehr I, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Müller-Myhsok B, Meitinger T. Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. Nat Genet. 2007 Aug;39(8):1000-6. Epub 2007 Jul 18.
Xiong L, Jang K, Montplaisir J, Levchenko A, Thibodeau P, Gaspar C, Turecki G, Rouleau GA. Canadian restless legs syndrome twin study. Neurology. 2007 May 8;68(19):1631-3.
Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet. 2007 Jan;80(1):152-61. Epub 2006 Dec 1.
Gros-Louis F, Dupré N, Dion P, Fox MA, Laurent S, Verreault S, Sanes JR, Bouchard JP, Rouleau GA. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet. 2007 Jan;39(1):80-5. Epub 2006 Dec 10.
Gauthier J, Joober R, Dubé MP, St-Onge J, Bonnel A, Gariépy D, Laurent S, Najafee R, Lacasse H, St-Charles L, Fombonne E, Mottron L, Rouleau GA. Autism spectrum disorders associated with X chromosome markers in French-Canadian males.
Mol Psychiatry. 2006 Feb;11(2):206-13.
Díaz-Anzaldúa A, Rivière JB, Dubé MP, Joober R, Saint-Onge J, Dion Y, Lespérance P, Richer F, Chouinard S, Rouleau GA; Montreal Tourette Syndrome Study Group. Chromosome 11-q24 region in Tourette syndrome: association and linkage disequilibrium study in the French Canadian population. Am J Med Genet A. 2005 Oct 15;138(3):225-8.
Synapse to Disease Project