Senior Research Officer - Oxidation Biology Unit
Dr Ya Hui Hung
PhD, BSc(Hons), BMus

"People born with rare genetic diseases often live with lifelong disabilities and die prematurely.  But research into rare diseases have been mostly limited; and effective treatments for rare diseases are highly unmet medical needs.  

Ya Hui Hung is dedicated to developing effective treatments that will extend and improve the lives of patients with rare genetic diseases.  Her research focuses on understanding the changes in metal biochemistry and biology in rare genetic diseases and translating this knowledge to develop effective treatments.  

Dr Ya Hyu Hung's main research interest is in Niemann-Pick Disease Type C (NP-C), a rare lysosomal storage disorder with progressive neurodegeneration.  This research evolved from her early postdoctoral research that investigated the interplay between copper and cholesterol metabolism in the development of neurodegeneration and Alzheimer’s disease.  Her current research focuses on understanding the role of metals in NP-C pathogenesis to identify potential drug targets.  This work is supported by the Australian NP-C Disease Foundation.

From her PhD studies at the University of Melbourne, she also has a research interest in understanding the biochemistry of ATP7A, a major copper transporter in the body.  Mutations in the ATP7A gene underlie a number of rare neurological disorders, which include Menkes disease and ATP7A-related distal motor neuropathy.  

Her current research investigates a newly discovered ATP7A mutation associated with an atypical amyotrophic lateral sclerosis (ALS).

Ya Hui Hung is a convenor of the Melbourne BioMetals Symposium.

  • Location

    Florey Institute of Neuroscience and Mental Health
    30 Royal Parade

Research Papers

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Showing 10 of 15. VIEW ALL

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