Professor Pierre Moffatt

I am an investigator at the Shriners Hospitals for Children, and Associate Professor and Graduate Program Director within the Department of Human Genetics of McGill University. Prior to joining McGill, I worked in local biotech industries as a senior scientist, and subsequently for 2 years at the Faculty of Dentistry at University de Montreal. My expertise and interest cover molecular, cellular, and physiological aspects of calcified tissues. My research program focuses on the functional characterization of genes encoding secreted and membrane proteins, expressed in bones and teeth. Through ongoing collaborative work we are studying a unique set of genes and proteins (AMTN, ODAM, SCPPPQ1) involved in enamel formation and gingiva structure maintenance. In addition, my lab has actively participated in the discovery of genes (P4HB, SPARC, RUNX2, WNT1, PLS3, SERPINF1, BMP1, SP7) causing novel types of osteogenesis imperfecta or low bone mass syndromes in children. My current research efforts are focusing on the bone-restricted ifitm-like (BRIL), a transmembrane protein expressed specifically in bone forming cells (osteoblast). Mutations in the BRIL/IFITM5 gene in humans cause osteogenesis imperfecta. To understand the mechanistic consequences of BRIL in the disease, we are characterizing and further establishing several genetically engineered mouse models through CRISPR-approaches. Another project aims to develop new treatment methodologies (viral vector delivery of silencing RNA) for the treatment of osteogenesis imperfecta. In parallel, we are investigating other interesting, secreted molecules, that affect longitudinal bone growth through regulation of chondrocyte activity.