Dr Ya Hui Hung
PhD, BSc(Hons), BMus
About 2 million Australians and 300 million people worldwide live with one of 7,000+ rare diseases (Australian Government, Department of Health). 70% of rare diseases are of genetic origin. 95% of rare diseases have no approved treatment. People born with rare genetic diseases often live with lifelong disabilities and die prematurely.
Trained in molecular biology and biochemistry, Ya Hui Hung is dedicated to developing effective treatments that will improve health outcomes for people living with rare genetic diseases.
Her PhD studies at the University of Melbourne set her on the path of rare disease research. Her PhD project contributed to the understanding of ATP7A protein function, 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 motor neuropathy.
Her current research focus is on Niemann-Pick Disease Type C (NP-C), a rare metabolic 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 NP-C research has contributed to the mapping of the metallobiology landscape of NP-C and identified early neurological changes in an NP-C mouse model that may have clinical implications for human carriers of the NPC1 gene. She is now exploring new treatment solutions for NP-C, which include using the mRNA technology to replace the faulty genes that cause NP-C.
To learn more about NP-C, visit the Australian NP-C Disease Foundation website.
Ya Hui Hung is a co-organiser of the Australian NP-C conference and the Melbourne BioMetals Symposium.