{"id":3689,"date":"2012-01-23T15:55:42","date_gmt":"2012-01-23T20:55:42","guid":{"rendered":"https:\/\/biomol.umontreal.ca\/research\/professors\/rouleau-guy\/"},"modified":"2013-08-16T16:11:21","modified_gmt":"2013-08-16T20:11:21","slug":"rouleau-guy","status":"publish","type":"page","link":"https:\/\/biomol.umontreal.ca\/en\/research\/les-professeurs\/rouleau-guy\/","title":{"rendered":"Rouleau, Guy, MD PhD FRCP(C) OQ"},"content":{"rendered":"

Coordonn\u00e9es<\/h3>\n

Centre de recherche du CHUM
\nT<\/strong> 514 890-8000 extension 24699
\nF<\/strong> 514 412-7602
\nguy.rouleau@umontreal.ca <\/a><\/p>\n\n

\n

Description de la recherche<\/h2>\n

Identification de g\u00e8nes<\/strong>\u00a0: L\u2019identification de g\u00e8nes responsables de maladies du cerveau et du syst\u00e8me nerveux constitue une des deux principales activit\u00e9s du laboratoire du Dr Rouleau. Les maladies g\u00e9n\u00e9tiques, ou h\u00e9r\u00e9ditaires, peuvent \u00eatre divis\u00e9es en deux groupes : les maladies monog\u00e9niques qui sont caus\u00e9es par la mutation d\u2019un seul et unique g\u00e8ne et les maladies complexes qui r\u00e9sultent de variations dans diff\u00e9rents g\u00e8nes interagissant entre eux et avec l\u2019environnement pour provoquer la maladie. Ces deux types de d\u00e9sordres g\u00e9n\u00e9tiques sont \u00e9tudi\u00e9s par l\u2019\u00e9quipe du Dr\u00a0 Rouleau. De plus en plus, l’identification de g\u00e8nes se fait par s\u00e9quen\u00e7age du g\u00e9nome des individus atteints d’une maladie. Les nouvelles techniques disponible nous permettent maintenant d’analyser des milliers de g\u00e8nes en une seule exp\u00e9rience.<\/p>\n<\/div>\n

<\/strong><\/p>\n

M\u00e9canismes pathologiques\u00a0:<\/strong> L\u2019identification d\u2019un g\u00e8ne n\u2019est que le premier pas dans la compr\u00e9hension des m\u00e9canismes mol\u00e9culaires menant aux sympt\u00f4mes d\u2019une maladie particuli\u00e8re. L\u2019\u00e9tude de ces m\u00e9canismes se fait en deux \u00e9tapes : dans un premier temps, nous cherchons \u00e0 caract\u00e9riser le mode d\u2019expression et la fonction de la prot\u00e9ine normale pour ensuite examiner comment la prot\u00e9ine mut\u00e9e affecte le fonctionnement des cellules. Ces analyses se font en utilisant les techniques de biologie mol\u00e9culaire et les mod\u00e8les cellulaires et animaux. la microscopie nous permet de visualiser les changements survenus dans les cellules contenant des g\u00e8nes anormaux. Les donn\u00e9es recueillies lors de ces travaux permettent alors d\u2019envisager de nouveaux moyens de traitement ou de pr\u00e9vention.<\/p>\n<\/div>\n

<\/strong><\/p>\n

Voici une liste des maladies sur lesquelles travaille le laboratoire du Dr Rouleau:<\/strong> Amusie cong\u00e9nitale, An\u00e9vrismes intra-cr\u00e2niaux, Ataxie sensorielle, autosomale dominante, Ataxies spino-c\u00e9r\u00e9belleuses, Autisme, Dystonie, Dystrophie musculaire oculo-pharyng\u00e9e, Maladie de Parkinson, Maladies neuro-d\u00e9g\u00e9n\u00e9ratives caus\u00e9es par des r\u00e9p\u00e9titions CAG, Neuropathie sensitivo-motrice h\u00e9r\u00e9ditaire avec ou sans ag\u00e9n\u00e9sie du corps calleux, N\u00e9vrite h\u00e9r\u00e9ditaire sensitive et autonomique de type 2, Parapl\u00e9gies spastiques h\u00e9r\u00e9ditaires, Schizophr\u00e9nie, Scl\u00e9rose lat\u00e9rale amyotrophique, Scl\u00e9rose lat\u00e9rale primaire, Syndrome d\u2019impatience musculaire de l\u2019\u00e9veil, Syndrome Gilles-de-la-Tourette, Traumatismes cr\u00e2nio-c\u00e9r\u00e9braux l\u00e9gers, Tremblements essentiels, Troubles bipolaires.<\/p>\n<\/div>\n\n

Publications<\/h3>\n
    \n
  • Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, Saint-Hilaire JM, Carmant L, Verner A, Lu WY, Tian Wang Y, Rouleau GA. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nature Genetics 2002;31:184-9<\/li>\n
  • 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;314:1652-66.<\/li>\n
  • Srour M, Rivi\u00e8re JB, Pham JM, Dub\u00e9 MP, Girard S, Morin S, Dion PA, Asselin G, Rochefort D, Hince P, Diab S, Sharafaddinzadeh N, Chouinard S, Th\u00e9oret H, Charron F, Rouleau GA. Mutations in DCC cause congenital mirror movements. Science. 2010 Apr 30;328(5978):592.<\/li>\n
  • Lafreni\u00e8re RG, Cader MZ, Poulin JF, Andres-Enguix I, Simoneau M, Gupta N, Boisvert K, Lafreni\u00e8re F, McLaughlan S, Dub\u00e9 MP, Marcinkiewicz MM, Ramagopalan S, Ansorge O, Brais B, Sequeiros J, Pereira-Monteiro JM, Griffiths LR, Tucker SJ, Ebers G, Rouleau GA. A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura. Nat Med. 2010 Oct;16(10):1157-60. Epub 2010 Sep 26.<\/li>\n
  • Girard SL, Gauthier J, Noreau A, Xiong L, Zhou S, Jouan L, Dionne-Laporte A, Spiegelman D, Henrion E, Diallo O, Thibodeau P, Bachand I, Bao JY, Tong AH, Lin CH, Millet B, Jaafari N, Joober R, Dion PA, Lok S, Krebs MO, Rouleau GA. Increased exonic de novo mutation rate in individuals with schizophrenia. Nat Genet. 2011 Jul 10. doi: 10.1038\/ng.886. (Epub ahead of print)<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"

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