Philippe Campeau

Dr. Philippe Campeau is an Associate Clinical Professor in the Department of Pediatrics at the Faculty of Medicine, Université de Montréal. He is affiliated with CHU Sainte-Justine, a major pediatric hospital in Montreal, Quebec, where he works in the Medical Genetics Service. His clinical and research work focuses on genetic disorders affecting children, particularly in the areas of skeletal development and neurogenetics.

Dr. Campeau obtained his Doctorate in Medicine from Laval University in Quebec (1998-2003) followed by specialty training in medical genetics at McGill University (2003-2008). He completed postdoctoral training at Baylor College of Medicine (2008-2013), which further developed his expertise in genetic research methodologies.

His primary research interests include bone dysplasias, skeletal dysplasias, epilepsy, and epigenetic diseases. Dr. Campeau's laboratory identifies disease-causing genes, deciphers disease pathophysiology, and works to improve the management of children affected by these conditions. His work encompasses exome analysis, functional studies with cell lines and mouse models, and investigations into urea cycle abnormalities. He has made significant contributions to understanding genetic causes of conditions such as Genitopatellar syndrome (KAT6B), osteopetrosis, dysosteosclerosis (SLC29A3), osteogenesis imperfecta, early-onset osteoporosis (WNT1), Yunis-Varón syndrome (FIG4), and DOORS syndrome (TBC1D24).

Dr. Campeau's publication record demonstrates a strong trajectory in medical genetics research, with numerous high-impact publications spanning from fundamental genetic discovery to translational research. His work spans skeletal disorders, neurodevelopmental conditions, and epigenetic mechanisms. Recent publications indicate an expanding focus on chromatin modifiers, DNA methylation patterns, and spliceosome function in neurodevelopmental conditions, reflecting the evolution of his research interests toward more complex molecular mechanisms.

Dr. Campeau has received several research grants in recent years (6 starting in 2014) from organizations including the Fonds de la recherche en santé du Québec, Canadian Institutes of Health Research, and Fondation Grand Défi Pierre Lavoie. While specific students are not mentioned in the available information, as a clinical professor, he mentors medical students, residents, and research trainees in the Department of Pediatrics. His research is conducted as part of the 'Musculoskeletal Diseases and Rehabilitation' axis at CHU Sainte-Justine Research Center, where he collaborates with international research teams to identify disease-causing genes and develop better management strategies for children with genetic disorders.