Children’s Mercy is transforming pediatric genetic diagnosis with a single, advanced sequencing test. Learn how this breakthrough is delivering faster answers, fewer tests, and new hope for families facing rare diseases.
Selected Podcast
Faster Answers, Brighter Futures: How Children’s Mercy Is Transforming Genetic Diagnosis
Featured Speakers:
Emily Farrow, PhD | Isabelle Thiffault, PhD, FACMG
Emily Farrow is the Laboratory Operations Director for the Center for Pediatric Genomic Medicine at Children’s Mercy Kansas City. She joined the Center in February 2012. She is an assistant professor at the University of Missouri-Kansas City School of Medicine and has a secondary appointment at the Indiana University School of Medicine in the Department of Medical and Molecular Genetics. She obtained her master of science degree in genetic counseling from the Indiana University School of Medicine in 2006, followed by her doctorate in molecular genetics in 2009. She completed a postdoctoral fellowship supported by a National Kidney Foundation research grant in phosphate regulation at Indiana University School of Medicine. Dr. Farrow is also a board-certified genetic counselor. Her disease focus is bone and mineral diseases.
Dr. Isabelle Thiffault is the Director of Translational Genetics at the Genomic Medicine Center at Children’s Mercy Hospitals in Kansas City, Missouri, and an Associate Professor at UMKC School of Medicine. With a PhD in Molecular Genetics from Université de Montréal and postdoctoral training at McGill University, she specializes in neurogenetics, mitochondrial disorders, and rare pediatric diseases. Dr. Thiffault has pioneered the use of long-read sequencing technologies for clinical diagnostics and leads research efforts in the Genomic Answers for Kids (GA4K) program, which has delivered over 1,000 rare disease diagnoses. She has authored more than 130 peer-reviewed publications and contributes extensively to national and international genetics panels, including NIH ClinGen. Her work has been featured in major media outlets and she is a frequent invited speaker at global genomics conferences.