Translational Proteomics
Research Unit
The Translational Proteomics research unit of Dr. Benoit Coulombe exploits the power of proteomics to understand how mutations that cause rare genetic diseases alter the function of their target proteins. In recent years, this team has mainly focused on hypomyelinating leukodystrophies, amyotrophic lateral sclerosis (ALS), some cardiometabolic conditions and rare cancers.
The identification of mutations causing rare diseases and the concomitant identification of the genes they target has become the norm in medical research, but these advances say little about the mechanism of disease onset and progression. Really useful clues, more difficult to obtain but also more informative, come from characterizing the defects caused by these mutations to the normal function of their target protein and downstream pathways. This information on disease mechanisms is a gold mine for biomarker and drug discovery, and the development of new treatments.
The Coulombe laboratory focuses more specifically on rare disease-causing gene products involved in protein-protein interactions. Indeed, it is estimated that an important proportion of rare diseases target protein-protein interactions, protein complexes and protein networks. The Coulombe laboratory being a pioneer in the study of the PAQosome, a molecular machine involved in the assembly and the maturation of protein complexes, this group is well positioned to characterize the organization and the biogenesis of the human interactome, and the faulty connections that cause diseases. Differential interactome data is presented at OpenForRare.com as part of an Open Science initiative.

- Director, Translational Proteomics Research Unit, IRCM
- Director, Biomarker Pipeline for Precision Medicine Strategic Initiative
- Full IRCM Research Professor
- Full Research Professor, Department of Biochemistry and Molecular Medicine (accreditation for the Molecular Biology Programs), Université de Montréal
- Holder of the Bell-Bombardier Chair of Excellence
Degrees and relevant experience
- PhD in molecular biology, Université de Montréal (1988)
- Postdoctoral fellowship, Banting and Best Department of Medical Research, University of Toronto (1990-1992)
- Postdoctoral fellowship, Free University of Brussels, Belgium (1992-1993)
- Assistant professor, Department of Biology, Université de Sherbrooke (1993-1996)
- Associate professor, Department of Biology, Université de Sherbrooke (1996-1999)
- Full professor, Department of Biology, Université de Sherbrooke (1999-2001)
- Full professor, Department of Biochemistry, Université de Montréal (since 2001)
Major Discoveries
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In 2007, the Coulombe lab discovered a set of previously uncharacterized proteins that turned out to play a central role in biogenesis of protein complexes and networks in human cells. Among these regulatory proteins, the PAQosome is a multisubunit cochaperone composed of an R2TP core, a PFDL module and the two associated proteins WDR92 and POLR2E/RPB5. Its R2TP core is composed of PIH1D1 and RPAP3 (in light blue) that can be replaced by homologous proteins to form alternative PAQosomes and the hexameric RUVBL1/2 module. The PFDL module contains the canonical prefoldins PFDN2 and 6 and the prefoldin-like proteins URI1, UXT, and PDRG1. Client protein complexes to be assembled by the PAQosome together with chaperones (i.e. HSP70, HSP90 and CCT) can be recruited to the PAQosome directly or indirectly via adaptors.
- Ministère de l’Économie, des Sciences et de l’Innovation du Québec
- Leducq Foundation
- Canadian Institutes for Health Research (CIHR)
- Brain Canada
- ALS Canada
- Fondation Leucodystrophie
- Montreal Clinical Research Institute (IRCM)
- IVADO
- Génome Québec
Support biomedical research
Contact information
Montreal Clinical Research Institute (IRCM)
110, des Pins Avenue West
Montréal, Québec H2W 1R7