CHICAGO ― Heather Mefford, MD, PhD, will be presented with the 2024 Basic Science Research Award during the 2024 Annual Meeting of the American Epilepsy Society (AES). The Research Recognition Awards are the Society's highest research awards to encourage and recognize active basic science and clinical investigators whose research contributes importantly to understanding and conquering epilepsy.
Dr. Mefford is a physician scientist at the Center for Pediatric Neurological Disease Research at St. Jude Children’s Research Hospital, Memphis, Tennessee. She completed her medical degree and doctorate in genetics at the University of Washington (UW), Seattle followed by her pediatrics and medical genetics training at UW and Seattle Children’s Hospital.
Her research is dedicated to gene discovery in rare pediatric epilepsies and related neurodevelopmental disorders, with the long-term goal of using information about genetic etiology to develop more precise and effective therapies.
Starting with the discovery of recurrent deletions as risk factors for epilepsy, her research helped define the genetic landscape of various types of epilepsy. She has led or contributed to more than 25 novel gene discoveries in developmental and epileptic encephalopathies, transforming clinical genetic diagnosis for affected children. Now, using engineered and patient-derived cells, her group develops cellular models of genetic epilepsies for characterization and testing potential targeted therapies.
She is a scientific advisor for several patient advocacy groups, has served on numerous AES and International League Against Epilepsy committees, co-chairs the ClinGen Epilepsy Gene & Variant Curation Working Groups, was co-principal investigator for the Epi4K Consortium, and is secretary of the board for the American Society of Human Genetics.