Heather C. Mefford M.D., Ph.D. Not accepting new patients

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Genetic counseling, Primary care - pediatrics




Heather Mefford, M.D., Ph.D., is a board certified physician at Seattle Children’s Hospital in the Medical Genetics Clinic and a UW assistant professor of Pediatrics and Genetic Medicine and an adjunct assistant professor of Genome Sciences and Pathology. She directs a UW Medicine research laboratory devoted to the discovery of novel genomic disorders—conditions caused by small changes in DNA.

Dr. Mefford has been involved in the discovery of several new genomic disorders. She studies individuals with these conditions to better understand their outcomes. In addition, her research group uses state-of-the-art technology to discover DNA changes that underlie pediatric conditions such as epilepsy, intellectual disability and kidney defects.

Dr. Mefford earned her M.D. and Ph.D. at the UW. Her clinical interests parallel her research interests and include seeing patients with genomic disorders and patients with neurocognitive defects of unknown causes.
Univ. of Washington, School of Medicine

Medical education, 2003

Univ. of Washington, School of Medicine

Ph.D, 2001

UW - Dept. of Pediatrics Medical Genetics

Fellowship, Medical Genetics

UW - Dept. of Pediatrics

Residency, Pediatrics


Board Certifications
  • Clinical Genetics, 2007, American Board of Medical Genetics