{"id":3980,"date":"2014-08-07T11:47:55","date_gmt":"2014-08-07T15:47:55","guid":{"rendered":"https:\/\/biomol.umontreal.ca\/research\/professors\/campeau-philippe-m-d\/"},"modified":"2026-02-01T12:35:28","modified_gmt":"2026-02-01T17:35:28","slug":"campeau-philippe-m-d","status":"publish","type":"page","link":"https:\/\/biomol.umontreal.ca\/en\/research\/les-professeurs\/campeau-philippe-m-d\/","title":{"rendered":"Campeau, Philippe, M.D."},"content":{"rendered":"

Coordonn\u00e9es<\/h3>\n

Centre de Recherche
\nCHU Ste-Justine
\n3175, Chemin de la C\u00f4te-Sainte-Catherine
\nMontr\u00e9al (Qu\u00e9bec) – H3T 1C5
\nT<\/strong> 514 345-4691, poste 7146
\nF<\/strong> 514 345-4766
\np.campeau@umontreal.ca <\/a><\/p>\n\n

\n

Axes de recherche<\/h2>\n
    \n
  • G\u00e9nomique<\/li>\n
  • G\u00e9n\u00e9tique humaine et maladies g\u00e9n\u00e9tiques<\/li>\n
  • Neurobiologie<\/li>\n
  • Syst\u00e8mes mod\u00e8les en biologie mol\u00e9culaire<\/li>\n<\/ul>\n

    Description de la recherche<\/h2>\n

    Mes int\u00e9r\u00eats de recherche de longue date portent sur l\u2019am\u00e9lioration du traitement des erreurs inn\u00e9es du m\u00e9tabolisme, entre autre par th\u00e9rapie cellulaire et th\u00e9rapie g\u00e9nique. J\u2019ai travaill\u00e9 \u00e0 mieux comprendre le r\u00f4le de l\u2019oxyde nitrique dans les anomalies du cycle de l\u2019ur\u00e9e, et mes recherches actuelles portent sur les voies de signalisation activ\u00e9es par le ph\u00e9nylbutyrate, un m\u00e9dicament utilis\u00e9 pour \u00e9viter les hyperammoni\u00e9mies.<\/p>\n

    Mes int\u00e9r\u00eats de recherches plus r\u00e9cents portent sur les dysplasies squelettiques. Par s\u00e9quen\u00e7age de l\u2019exome (l\u2019ensemble des g\u00e8nes de notre g\u00e9nome), nous avons identifi\u00e9 la cause g\u00e9n\u00e9tique du syndrome G\u00e9nitopatellaire (KAT6B), d\u2019une forme d\u2019ost\u00e9op\u00e9trose, la dysost\u00e9oscl\u00e9rose (SLC29A3), d\u2019une forme d\u2019ost\u00e9og\u00e9n\u00e8se imparfaite et d\u2019ost\u00e9oporose pr\u00e9coce (WNT1), du syndrome de Yunis-Var\u00f3n (FIG4) et du syndrome DOORS (ou DOOR) qui combine une surdit\u00e9 avec \u00e9pilepsie et atteinte squelettique (TBC1D24). Nous travaillons maintenant \u00e0 mieux comprendre la fonction de ces g\u00e8nes gr\u00e2ce \u00e0 des mod\u00e8les murins.<\/p>\n<\/div>\n

    \n

    Research axis<\/h2>\n
      \n
    • Genomics<\/li>\n
    • Human Genetic and Genetic Deseases<\/li>\n
    • Neurobiology<\/li>\n
    • Model Systems in Molecular Biology<\/li>\n<\/ul>\n

      Research description<\/h2>\n

      Philippe Campeau\u2019s research interests have for a long time focused on improving the treatment of inborn errors of metabolism through, among other things, cell and gene therapy. He has worked toward a better understanding of the role of nitric oxide in urea cycle disorders and his present research concerns signaling pathways activated by phenylbutyrate, a drug used to prevent hyperammonemia.<\/p>\n

      His most recent research interests deal with skeletal dysplasia. Through exome sequencing (all of the genes in the genome), he and his colleagues have identified the genetic cause of genitopatellar syndrome (KAT6B), a form of osteopetrosis, dysosteosclerosis (SLC29A3), a form of osteogenesis imperfecta and early onset osteoporosis (WNT1), Yunis-Varon syndrome (FIG4) and DOORS (or DOOR syndrome), which associates deafness with epilepsy and skeletal abnormalities (TBC1D24). Their current work with murine models is aimed at a better understanding of the function of these genes.<\/p>\n<\/div>\n\n","protected":false},"excerpt":{"rendered":"

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