Isabelle Thiffault

Isabelle Thiffault serves as an Assistant Director of the Clinical laboratory at Children’s Mercy Hospital, Director of Translational Genomics at the Genomic Medicine Center at Children’s Mercy Research Institute since 2014 and professor at The University of Missouri-Kansas City, School of Medicine. 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 (2009), and a Postdoctoral Fellowship in Experimental Therapeutics at the McGill University NEURO Institute (2012). Following her postdoctoral position, she completed a three-year clinical fellowship training in molecular genetics (McGill University) and successfully passed the American Board of Medical Genetics and Genomics (ABMGG), examinations in 2015. She has a broad background in genetics and genomics. She is currently part of 5 National Institutes of Health (NIH) grants. 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. We have recruited over 18k individuals (>8k families) and surpassed 2,300 rare diagnoses through our groundbreaking work—far out-pacing other rare disease research programs—and continue to conduct cutting-edge science that has led to several “firsts” in the field of genomics research. We have produced > 3000 HiFi long-read genomes, the first to use 5-base sequencing. Following our research initiative, we completed the clinical validation of HiFi genome sequencing in 2023, and we were the first center offering it as clinical genomic testing for critically ill patients. Isabelle has published >150 peer-review articles and demonstrates a record of accomplished and productive research projects in an area of high relevance to rare diseases.