Jonathan Cooper

Research has focused upon the neurobiology of Batten Disease or neuronal ceroid lipofuscinosis (NCLs). Batten disease is the collective name for a group of neurodegenerative childhood disorders that invariably prove fatal, with no effective treatment available. Together with colleagues in the US, Europe and New Zealand, we are working to discover precisely how Batten disease affects the brain. The main thrust of this work is to study patterns of neurodegeneration in mouse and large animal models of NCL, comparing our findings with the brains of affected individuals. In this manner we can identify and follow the earliest effects of disease and discover how and why these changes subsequently develop. These studies not only provide us with important landmarks of disease progression, but also the ability to judge the efficacy of candidate therapeutic strategies. Particular interests include: the comparative study of NCL pathogenesis; the role of neuroimmune and autoimmune responses in the NCLs and other storage disorders; the developmental neurobiology of the NCLs; assessment of therapeutic efficacy. Other collaborative studies with colleagues in the Institute's Neurodegeneration IRG continue to explore the role of novel proteins in neurodegenerative mechanisms.

Neurobiology of paediatric lysosomal storage disorders.