Sihoun Hahn, MD, PhD

Sihoun Hahn, MD, PhD


  • Biography

    Sihoun Hahn, MD, PhD, is a professor of pediatrics and adjunct professor of medicine at University of Washington and Seattle Children's Hospital as head of the biochemical genetics program and the director of the biochemical genetics laboratory. Dr. Hahn's research has focused on mitochondrial disorders, metabolic disorders, population screening for Wilson's disease, Cystinosis and Primary immunodeficiencies. His ultimate goal is to develop and validate a specific and quantitative proteomic assay that will simultaneously identify multiple congenital disorders using a small volume of blood dried onto filter paper as newborn screening.

    Dr. Hahn serves as a member of medical advisory committee of the Wilson Disease Association. Wilson Disease is a genetic disease in which the body cannot excrete copper properly leading to its accumulation in various organs including the liver and brain. Dr. Hahn developed and validated clinical genetic test on mitochondrial disorders by high-throughput next-generation sequencing technology. Other current projects in his lab focus on developing peptide finger printing analysis by tandem mass spectrometry for various metabolic and genetic disorders including cystinosis and primary immunodeficiencies. Dr. Hahn hopes to improve clinical practice through integrated laboratory testing true translational research. He remains a great believer in prevention: identifying illness and providing interventions to patients before symptoms appear is always preferable to treating developed disease. He is a member of the advisory committee for Washington State Newborn Screening.


    Korea University College of Medicine, Seoul 136-705, South Korea


    Korea University-College Of Medicine, Seongbuk-Gu Seoul


    Warren G Magnuson Clinical Center/National Institu, Bethesda, MD

    Clinical Interests

    Copper transport disorders; Mitochondrial disorders

    Research Description

    My research has been focusing on copper metabolism, population screening for Wilson's disease and mitochondrial disease. The work focuses on developing a newborn screening using tandem mass spectrometry for Wilson's disease, a genetic disease in which the body cannot excrete copper properly leading to its accumulation in various organs including the liver and brain. I am developing an assay that quickly determines if the mitochondrial disease is present. I hope to improve clinical practice through integrated laboratory testing-true translational research.

    Research Focus Area

    Biochemical Genetics, Genetics and Developmental Biology, Health Promotion and Disease Prevention, Mitochondrial disease

  • Related Resources

    • Hahn Lab

      The Hahn laboratory focuses on development and validation of assays that have important clinical applications for population screening, diagnosis and prognosis.

  • Patient Testimonials

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  • Awards and Honors

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  • Publications

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  • Clinical Trials and Research Studies

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