Philippe Campeau , M.D.
    Philippe Campeau
    Research Axis
    Musculoskeletal Health, Rehabilitation and Medical Technologies Axis
    Research Theme
    Study and more efficient approaches for spinal deformities and musculoskeletal diseases

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    • Medical Geneticist, CHU Sainte-Justine Research Center, 2013
    • Assistant Clinical Professor, Department of Pediatrics, Université de Montréal, 2013


    • Assistant Professor, Baylor College of Medicine, 2013
    • Postdoctorate, Baylor College of Medicine, 2008-2013
    • Specialty in Medical Genetics (FRCPC, FCCMG), McGill University, 2003-2008
    • MD, Laval University, 1998-2003

    Research Interests

    Philippe Campeau’s 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.

    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.

    Research Topics

    • Skeletal dysplasia
    • Exome analysis
    • Functional studies with cell lines and murine models
    • Urea cycle abnormalities

    Awards and Distinctions

    • Maud Menten New Principal Investigator Prizes, 2014
    • Phase 2 Clinician Scientist Salary Award, CIHR, 2014-2017
    • Clinical Research Scholars – Junior 1, FRQS, 2014-2018
    • O'Malley Foundation Fellowship, 2012
    • Postdoctoral Fellowship, CIHR, 2012
    • Postdoctoral Fellowship, FRQS, 2009
    • Detweiler Scholarship, CRMCC, 2009
    • Phase 1 Clinician Scientist Training Award, CIHR, 2009-2012

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