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S.M. Hughes, K M Hope, J B Xu, and N.L. Mitchell, Neurobiology of Disease, 2014 vol. 62 pp. 543-550
The Neural Development and Disease lab has a major focus on a group of childhood neurodegenerative disease known as Batten disease. These diseases are characterised by childhood blindness, seizures, hallucinations, feeding and motor problems and premature death. Our work developed a new neuronal cell culture model of one form of this disease (CLN5), and demonstrated both early pathological changes and the utility of viral-mediated gene therapy for reversing pathology. This work is a prequel to high throughput drug testing in cultures and whole animal gene therapy trials that are now underway.