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The Team

Medical Advisory Board Members

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Department of Genetics | Hadassah-Hebrew University Medical Center | Jerusalem, Israel

Prof. Tamar Harel, M.D, Ph.D. 

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    Pediatric Geneticist and Inherited Metabolic Diseases
    Children's Hospital Colorado

    Dr. Austin Larson, MD

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    Licensed, Certified Genetic Counselor

    Supervisor, Genetic Counseling

    Department of Ophthalmology

    UPMC Children’s Hospital of Pittsburgh

    Hannah Scanga, MS, LCGC

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      Certified Genetic Counselor 

      UPMC Children’s Hospital of Pittsburgh

      Emily Stuebing, MS, CGC

      Emily is a genetic counselor working at the UPMC Children's Hospital of Pittsburgh in the neurogenetics program. She previously worked with Lysosomal Storage Diseases in both clinical and research roles. She completed her Genetic Counseling program at Massachusetts General Hospital Institute of Health Professions in Boston, Massachusetts. She graduated from the University of Delaware with a Bachelor of Arts in Biology. She is passionate about supporting patients through clinical care, working with patients and families identified through newborn screening programs, and volunteering with advocacy organizations. Emily is most excited to explore the role of genetics in the research for emerging therapies.

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      Wan Hee Yoon, Ph.D.

      I study how mutations in mitochondrial genes lead to human genetic disorders. In 2016, Dr. Tamar Harel and I discovered that mutations in ATAD3A cause a group of rare neurological syndromes. Since then, my laboratory has focused on uncovering how ATAD3A mutations disrupt cellular homeostasis and identifying potential therapeutic strategies. I have also been actively supporting affected families through the ATAD3A Parent Support Group on Facebook since 2018.

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      This organization is organized exclusively for charitable, educational and scientific purposes under section 501(c)(3) of the Internal Revenue Code, or corresponding section of any future federal tax code. Our Employee Identification Number (EIN) is 39-2212699.

       

      Our website and related activities are led by volunteers to support other people with ATAD3A mutations/Harel-Yoon Syndrome and their caregivers. The information we provide is for general informational and educational purposes and is not a substitute for professional medical advice. We are not formally affiliated with any medical or research body, and all our information is based on our own understanding of the research and our own experiences.

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