Jacques Michaud

Jacques Michaud is a Full Professor in the Department of Pediatrics at the Faculty of Medicine, University of Montreal, and serves as Director of the Research Center at CHU Sainte-Justine in Montreal, Quebec. His work bridges clinical pediatrics and genomic research within Canada's premier pediatric hospital network, focusing on translating genetic discoveries into clinical applications for neurodevelopmental disorders.

Dr. Michaud's research program centers on identifying genetic causes of intellectual disability, autism, and epilepsy through advanced genomic approaches. His team investigates gene function in cellular and animal models, with particular emphasis on synaptic plasticity and neural circuit development—processes critical during childhood that offer pharmacological intervention opportunities. This work directly informs therapeutic strategy development for neurodevelopmental conditions.

Analysis of his publication record reveals consistent focus on genomic architecture of developmental encephalopathies, with recurring themes in de novo mutations, metabolic pathways (e.g., SLC45A1 glucose transporter), and synaptic genes (e.g., SYNGAP1). His research demonstrates strong translational orientation, connecting basic molecular mechanisms to clinical phenotypes through large-scale collaborative studies.

Dr. Michaud leads the Integrated Center for Pediatric Clinical Genomics (Génome Québec – CHU Sainte-Justine), where his team validates genomic diagnostics for rare diseases. They evaluate clinical implementation frameworks across disease groups, defining optimal testing protocols and measuring real-world diagnostic impact—positioning genomic medicine at the forefront of pediatric rare disease diagnosis.

His laboratory operates within CHU Sainte-Justine's research ecosystem, collaborating extensively with national consortia including Care4Rare Canada. The team maintains active partnerships with clinical genetics services across Quebec's CIUSSS networks, ensuring research directly addresses diagnostic challenges faced by pediatric neurologists and geneticists in hospital settings.