Heather C Mefford, MD, PhD

Heather C Mefford, MD, PhD

Specialties

"Geneticists are driven to understand the genetic basis of disease because we believe this information will lead us to better treatments and cures. I am so fortunate to be able to interact with a great group of researchers in Seattle who are using technology to understand disease. The scientists and the physicians I work with are very innovative and collaborative, which creates an inspiring, fun and successful working environment."

  • Biography

    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 Children’s 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. Mefford’s clinical interests parallel her research interests and include seeing patients with genomic disorders and patients with neurocognitive defects of unknown etiology. 

    Clinical Interests

    Epilepsy genetics, microdeletion syndromes; chromosome rearrangements and copy number changes as a cause of birth defects, mental retardation or autism.

  • Patient Testimonials

  • Awards and Honors

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  • Publications

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  • Presentations

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  • Research Funding

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  • Clinical Trials and Research

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