Nicolas Pilon

Nicolas Pilon is an Associate Professor at the University of Quebec in Montreal (UQAM) within the Department of Biological Sciences. He serves as director of the Centre of Excellence in Research on Orphan Diseases – Fondation Courtois (CERMO-FC) and has been an FRQS research fellow since 2008.

• B.Sc. in Biochemistry, University of Sherbrooke (1995)
• Ph.D. in Molecular Biology, University of Montreal (2001)
• Postdoctoral Fellowships: Clinical Research Institute of Montreal (Cdx transcription factors), University of Montreal (neural crest malformations)

Research Interests:
Dr. Pilon investigates the molecular genetics of neurocristopathies – rare genetic diseases arising from neural crest cell developmental defects. His lab employs mouse models to dissect cellular and molecular mechanisms in embryonic development, focusing on conditions like Hirschsprung's disease, Waardenburg syndrome, and CHARGE syndrome. They utilize advanced molecular/cellular biology techniques, ex vivo and in vivo approaches, and collaborate with clinical researchers to translate findings into pediatric care improvements.

Scientific Contributions:
Recent publications highlight discoveries in collagen VI's role in Hirschsprung's disease pathogenesis, Nr2f1 gene pair regulation in Waardenburg syndrome models, and Cdx protein functions in neural crest gene networks. His work demonstrates consistent application of mouse genetics to understand human congenital disorders.

Scientific Awards & Grants:

• FRQS research fellow
• CIHR, FRQS, GDPL Foundation, and NSERC grants totaling over $3,007,000 in the past five years

Research Infrastructure:
As director of CERMO-FC, Dr. Pilon leads a collaborative research center focused on rare genetic diseases, integrating basic science with clinical applications through partnerships with hospitals like Sainte-Justine University Hospital.