©2020 by Australian NPC Disease Foundation Inc.

Current Research Projects

in the Oxidation Biology Unit at The Florey Institute of Neuroscience and Mental Health (Melbourne, Australia) led by Dr. Ya Hui Hung and Professor Ashley Bush

The Australian NP-C Disease Foundation strongly supports research to finding new treatment options that will provide better health outcomes for NP-C patients. 

The Foundation funds research led by Dr. Ya Hui Hung, Professor Mark Walterfang and Professor Ashley Bush at the Florey Institute of Neuroscience and Mental Health.

Key research findings:

  • Abnormal metabolism of essential biological metals in NP-C.

  • Genetic carriers of NP-C (i.e. parents), who do not show obvious clinical symptoms,
    may develop milder NP-C disease.

Current research focuses on screening drug candidates using NP-C patient cells.  There is excellent progress in identifying drug candidates that can restore cholesterol processing, which may lead to new treatment options for NP-C.

 

Investigation of the role of metals in NP-C disease pathogenesis

March 2014

Hung, Y. H., N. G. Faux, D. W. Killilea, N. Yanjanin, S. Firnkes, I. Volitakis, G. Ganio, M. Walterfang, C. Hastings, F. D. Porter, D. S. Ory and A. I. Bush (2014). "Altered transition metal homeostasis in Niemann-Pick disease, type C1." Metallomics 6(3): 542-553.

Understanding the carrier risk for delayed NP-C disease

March 2016

Hung, Y. H., M. Walterfang, L. Churilov, L. Bray, L. H. Jacobson, K. J. Barnham, N. C. Jones, T. J. O'Brien, D. Velakoulis and A. I. Bush (2016). "Neurological Dysfunction in Early Maturity of a Model for Niemann-Pick C1 Carrier Status." Neurotherapeutics 13(3): 614-622.

Development of metal-targeting therapy for NP-C

In Progress

In Progress