Heather Mefford

Heather Mefford is a physician scientist and Member in the Center for Pediatric Neurological Disease Research at St. Jude Children’s Research Hospital. She completed the MD and PhD in Genetics at University of Washington, after which she completed a Pediatrics residency and Medical Genetics fellowship at UW and Seattle Children’s Hospital. She went on to establish her research program in the genetics of rare pediatric disease at UW, where she remained until moving to St. Jude Children’s Research Hospital in 2021. Her research is dedicated to gene discovery in pediatric neurological diseases, focusing on epilepsies, with the goal to leverage information about genetic etiology to develop precision therapies. Her work helped define the genetic landscape of rare developmental and epileptic encephalopathies using cutting edge genomic technologies. Using engineered and patient-derived cells, her group develops cellular models of genetic epilepsy for characterization and testing potential targeted therapies. She is a scientific advisor for several patient advocacy groups, co-chairs the ClinGen Neurodevelopmental Disorder Clinical Domain Working Group and Epilepsy Gene Curation Working Group, was co-PI for the Epi4K Consortium, and is Secretary of the Board for the American Society of Human Genetics.