Isabelle Thiffault, MSc., Ph.D., FABMGG Director of Translational Genomics, Genome Medicine Center at the Genomic Medicine Center (GMC) at Children’s Mercy Research Institute since 2014. She received a Master of Human Genetics from McGill University, Montreal, Canada (2004). She obtained a Doctorate from the Research Centre of the Centre Hospitalier de l’Université de Montréal (CRCHUM, 2009), and a Postdoctoral Fellowship in Experimental Therapeutics at the Montreal Neurological Institute and Hospital (McGill University, 2012). Following this postdoctoral project, she completed a three-year CCMGG fellowship training (the equivalent of ABMGG) in molecular genetics in Montreal (McGill University) and successfully passed the American Board of Medical Genetics and Genomics (ABMGG), examinations in 2015. She has a broad background in molecular genetics, with specific training and expertise in neurodevelopmental disorders. As a research coordinator for the Department of Genetics at the Montreal Children's Hospital- McGill University, she served as the research mentor for postdoctoral fellows, graduate students, and pre-doctoral students in Human Genetics. She has been appointed to serve as co-chairing the ABMGG LGG Fellowship Curriculum Committee at CM. She is part of the National Institutes of Health (NIH) ClinGen Mitochondrial Diseases Gene Curation Expert Panel dedicated to building a central resource that defines the clinical relevance of genes and variants for use in precision medicine and research of mitochondrial disorders. Her research at Genomic Answers for Kids (GA4K) focuses on the application of next-generation and genomic tools for molecular diagnosis of rare infantile diseases by the integration of effective computational strategy and functional analysis to characterize the pathogenicity of variants. Isabelle has published >120 peer-review articles and demonstrates a record of accomplished and productive research projects in an area of high relevance to pediatrics and more specifically neurodevelopmental disorders.