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    Elizabeth Palmer

    Lecturer at UNSW

    Dr. Elizabeth Emma Palmer is a senior clinical lecturer and Clinical Geneticist at the University of New South Wales (UNSW) and Sydney Children's Hospital Network. She holds a research fellowship (Investigator Grant) from the National Health and Medical Research Council (NHMRC).12

    Dr. Palmer's work focuses on improving care for children with rare genetic conditions. Her research aims to enhance the patient journey for the millions of people globally affected by rare diseases.12 She completed her PhD in 2019, studying the application of massively parallel sequencing for diagnosing developmental and epileptic encephalopathies.1

    Some of Dr. Palmer's key achievements and roles include:

    1. Leading several collaborative research programs:

      • GeneEQUAL: A project to improve equity and accessibility of genomic testing for people with intellectual disabilities.12
      • Gene2Care: An innovative rare genetic disease program at Sydney Children's Hospitals Network.12
      • CoGENES: An interdisciplinary research team focused on rare genetic epilepsies.12
    2. Involvement in national and international rare disease programs, including the Undiagnosed Disease Network Australia (UDN-Aus) and the Undiagnosed Disease Network International.12

    3. Leading the RArEST (Rare Disease Education Support and Training) program and launching Australia's first National Recommendations for Rare Disease Health Care in February 2024.12

    4. Teaching roles at UNSW Medicine, University of Sydney, and various professional development courses.12

    Dr. Palmer has authored over 110 peer-reviewed medical publications and has received numerous awards for her contributions to research and medicine.1

    Related Questions

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    What is the Undiagnosed Disease Network International, and how is Elizabeth Palmer involved?
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    Location

    Sydney, Australia