Heather C. Mefford, MD, PhD, is an assistant professor of pediatrics at the University of Washington in the Division of Genetic Medicine and attending physician at Seattle Childrens Hospital in the Medical Genetics Clinic. Dr. Mefford has a research laboratory devoted to the discovery of novel genomic disorders conditions caused by small deletions or duplications (copy number changes) of DNA.

She has 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. In addition, her research group uses state-of-the-art technology to discover new copy number changes that underlie a variety of pediatric conditions. Examples include neurocognitive disorders such as epilepsy and intellectual disability and congenital abnormalities including craniosynostosis and kidney defects. Dr. Meffords clinical interests parallel her research interests and include seeing patients with genomic disorders and patients with neurocognitive defects of unknown etiology.