Heather Mefford, MD, PhD
St. Jude Children’s Hospital
Heather Mefford is a Full Member of the Center for Pediatric Neurological Disease Research at St. Jude Children’s Research Hospital. She runs a research laboratory dedicated to gene discovery in pediatric disease, with a major focus on pediatric epilepsies. Her work uses cutting-edge genomic technologies and has helped define the genetic landscape of epileptic encephalopathies with studies reporting novel copy number variants and numerous novel disease-causing genes. She identified and characterized several novel deletion and duplication syndromes due to recurrent CNVs. She was a co-PI for several of the Epi4K consortium projects and co-chairs the ClinGen Neurodevelopmental Disorder Clinical Domain Working Group and Epilepsy Gene Curation Working Group. She serves on the Professional Advisory Board for LGSF.