Pierre Moffatt
Associate Professor
Graduate Program Director Department of Human Genetics
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.
- MSc Chemistry (UQAM)
- PhD Pharmacology (U. de Montreal)
- Osteogenesis imperfecta
- Osteoblast and chondrocyte differentiation and function
- Genetically engineered mouse models
- Tooth mineralization and gingival seal
- Fundamental and applied cellular and molecular mechanisms of mineralized tissue development and associated genetic disorders
BIOL 575 - Human Biochemical Genetics (Collagenopathies)
PHGY 550 - Molecular Physiology of Bone (The Natriuretic System in Bone)
EXSU 605 - Biomedical Research Innovation (CRISPR Gene Editing)
Full list of publications here
Past 5 years
Ludwig K, Ward LM, Khan N, Robinson ME, Miranda V, Bardai G, Moffatt P, Rauch F. Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant. Bone. 2022 Jul;160:116400. doi: 10.1016/j.bone.2022.116400. Epub 2022 Mar 31. PubMed PMID: 35367406.
Maranda V, Gaumond MH, Moffatt P. The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts. Int J Mol Sci. 2022 Feb 15;23(4). doi: 10.3390/ijms23042148. PubMed PMID: 35216266; PubMed Central PMCID: PMC8875491.
Mary C, Fouillen A, Moffatt P, Guadarrama Bello D, Wazen RM, Grenier D, Nanci A. Effect of human secretory calcium-binding phosphoprotein proline-glutamine rich 1 protein on Porphyromonas gingivalis and identification of its active portions. Sci Rep. 2021 Dec 9;11(1):23724. doi: 10.1038/s41598-021-02661-w. PubMed PMID: 34887426; PubMed Central PMCID: PMC8660882.
Moffatt P, Boraschi-Diaz I, Bardai G, Rauch F. Muscle transcriptome in mouse models of osteogenesis imperfecta. Bone. 2021 Jul;148:115940. doi: 10.1016/j.bone.2021.115940. Epub 2021 Mar 31. PubMed PMID: 33812081.
Moffatt P, Boraschi-Diaz I, Marulanda J, Bardai G, Rauch F. Calvaria Bone Transcriptome in Mouse Models of Osteogenesis Imperfecta. Int J Mol Sci. 2021 May 18;22(10). doi: 10.3390/ijms22105290. PubMed PMID: 34069814; PubMed Central PMCID: PMC8157281.
Fouillen A, Mary C, Ponce KJ, Moffatt P, Nanci A. A proline rich protein from the gingival seal around teeth exhibits antimicrobial properties against Porphyromonas gingivalis. Sci Rep. 2021 Jan 27;11(1):2353. doi: 10.1038/s41598-021-81791-7. PubMed PMID: 33504866; PubMed Central PMCID: PMC7840901.
Jaiswal PK, Aljebali L, Gaumond MH, Oh CD, Yasuda H, Moffatt P. Biochemical characteristics of the chondrocyte-enriched SNORC protein and its transcriptional regulation by SOX9. Sci Rep. 2020 May 8;10(1):7790. doi: 10.1038/s41598-020-64640-x. PubMed PMID: 32385306; PubMed Central PMCID: PMC7210984.
Fouillen A, Grenier D, Barbeau J, Baron C, Moffatt P, Nanci A. Selective bacterial degradation of the extracellular matrix attaching the gingiva to the tooth. Eur J Oral Sci. 2019 Aug;127(4):313-322. doi: 10.1111/eos.12623. Epub 2019 Jun 22. PubMed PMID: 31230388; PubMed Central PMCID: PMC6771947.
Manickam G, Moffatt P, Murshed M. Role of SMPD3 during Bone Fracture Healing and Regulation of Its Expression. Mol Cell Biol. 2019 Feb 15;39(4). doi: 10.1128/MCB.00370-18. Print 2019 Feb 15. PubMed PMID: 30530524; PubMed Central PMCID: PMC6362318.
Rauch F, Geng Y, Lamplugh L, Hekmatnejad B, Gaumond MH, Penney J, Yamanaka Y, Moffatt P. Crispr-Cas9 engineered osteogenesis imperfecta type V leads to severe skeletal deformities and perinatal lethality in mice. Bone. 2018 Feb;107:131-142. doi: 10.1016/j.bone.2017.11.013. Epub 2017 Nov 22. PubMed PMID: 29174564.
Patoine A, Husseini A, Kasaai B, Gaumond MH, Moffatt P. The osteogenic cell surface marker BRIL/IFITM5 is dispensable for bone development and homeostasis in mice. PLoS One. 2017;12(9):e0184568. doi: 10.1371/journal.pone.0184568. eCollection 2017. PubMed PMID: 28880886; PubMed Central PMCID: PMC5589259.