Heather C. 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 Medical Genetics Clinic. Mefford has a research laboratory devoted to the discovery of novel genetic and genomic causes of pediatric disease.
A major focus of her group’s work is to identify genetic causes of pediatric epilepsy. Using state-of-the-art technology, including next-generation sequencing, the group has recently identified numerous new epilepsy genes. She has also been involved in the discovery and characterization of several new genomic disorders — conditions caused by small deletions or duplications (copy number changes) of DNA. Examples include deletions of chromosomes 1q21, 15q13, and 17q12, each of which causes a range of clinical features. She is continuing to investigate individuals with these conditions to better understand the variable outcomes.
Using the same technologies, her research group works to discover new genes and copy number changes that underlie a variety of pediatric conditions. Examples include neurocognitive disorders such as autism and intellectual disability and congenital abnormalities including craniosynostosis and kidney defects. Mefford’s clinical interests parallel her research interests and include seeing patients with genomic disorders and patients with neurocognitive defects of unknown etiology.