Heather C. Mefford, MD, PhD

Principal Investigator
hmefford@uw.edu

Dr. Mefford is an Associate Professor of Pediatrics at the University of Washington in the Division of Genetic Medicine and attending physician at Seattle Children's Hospital in the Genetic Medicine Clinic. Dr. Mefford’s research laboratory is devoted to the discovery of novel genetic and genomic causes of pediatric disease. A major focus of their current work is to identify causes of pediatric epilepsy by employing state-of-the-art technologies including whole exome sequencing, targeted gene panel sequencing and custom array comparative genomic hybridization (aCGH). The Mefford lab has discovered numerous new epilepsy genes and copy number variants. Dr. Mefford has also been involved in the discovery and characterization of several new genomic disorders, including deletions of chromosomes 1q21, 15q13 and 17q12, each of which cause a range of clinical features. She is continuing to investigate individuals with these conditions to better understand the variable outcomes. Dr. Meffords clinical interests parallel her research interests and include seeing patients with genomic disorders and patients with severe epilepsies and neurocognitive defects of unknown etiology.