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.