Over the past 30 years, my research has focused on neural crest development and related pathologies, integrating human and mouse molecular genetics with developmental biology. Our group has been central to genetic studies revealing the involvement of SOX10 in various neurocristopathies, including Waardenburg syndrome type 2, syndromic Hirschsprung disease, and Kallmann syndrome, as well as the involvement of ZEB2, EDNRB, ERBB3/ERBB2 in complex neurocristopathies.
Combining mouse models and in vitro culture systems, we have also characterized several genetic interactions between SOX10 and key genes during enteric nervous system development. In 2020, we have extended our research to post-transcriptional mechanisms controlling neural crest development, with a particular interest in the role of A-to-I RNA editing mediated by ADAR1 in Schwann cell development and peripheral myelin maintenance and its interconnection with other RNA base modifications.
The group "Neurocristopathies" is structured around two main themes:

• Molecular and cellular bases of neurocristopathies, with a focus on Hirschsprung disease and Waardenburg syndrome (PIs: V. Pingault and N. Bondurand)
• Transcriptional and post-transcriptional control of neural crest development, with a focus on A-to-I RNA editing in Schwann cells development and peripheral myelin maintenance and on m6A in neural crest development (PI: N. Bondurand)
• Novel cell- and drug-based therapeutic strategy for enteric neuropathies (PI C. Cirillo)