Dr. Philippe Campeau, MD

Dr. Philippe Campeau, MD, FRCPC, FCCMG is a Medical Geneticist at the CHU Sainte-Justine Research Center and a Clinical Professor in the Department of Pediatrics at the Université de Montréal. He also serves as the Co-Director of RARE.Qc, where he helps advance research, collaboration, and care for individuals living with rare diseases across Quebec, and co-PI for the Canadian Rare Diseases Models and Mechanism Network.

 

Dr. Campeau’s research focuses on improving the understanding and treatment of rare genetic and musculoskeletal disorders. His work spans skeletal dysplasia, inherited metabolic disorders, and functional studies using cellular and murine models. Throughout his career, he has contributed to identifying the genetic causes of several rare conditions, including genitopatellar syndrome, dysosteosclerosis, osteogenesis imperfecta, early-onset osteoporosis, Yunis-Varon syndrome, and DOORS syndrome.

 

In addition to his research on skeletal disorders, Dr. Campeau has led or participated in studies exploring innovative approaches to treat inborn errors of metabolism, including cell and gene therapy, and to promote growth in skeletal dysplasia.

 

Through his clinical practice, research, and leadership roles, Dr. Campeau is committed to advancing precision medicine, improving diagnosis and treatment for rare diseases, and supporting collaborative research that enhances the lives of patients and families affected by genetic conditions.