Neurobiology, gene and drug therapy in the childhood neurodegenerative disease, Batten disease


Supervised by: Dr Stephanie Hughes 

Our research focuses on Batten disease, a group of fatal childhood neurodegenerative diseases with clinical symptoms resembling those in Alzheimer’s and Parkinson’s disease. We study two forms of Batten disease caused by mutations in the genes CLN5 (encoding a soluble lysosomal protein) and CLN6 (an endoplasmic reticulum membrane protein).

There are no treatments currently available for Batten disease, although several clinical trials have begun. Using sheep and mouse models and primary neuronal cultures from these, we are analyzing the biological functions of the CLN5 and CLN6 proteins in neurons and developing gene and drug therapies based on these results.

Projects are available for highly motivated students with a strong background in biochemistry, genetics and/or neuroscience. We have strong collaborations within Australasia and the UK in Batten’s research and an excellent neuroscience community in Otago.

This project will be co-supervised by Dr. Peter Mace.