NeuroGenetics Research Group

OurThe Department of Neurogenetics joined the Kolling Institute in 2003. Our group investigates the pathogenic mechanisms involved in neurogenetic disorders with a particular interest in mitochondrial function and movement disorders such as Parkinson’s disease. Genetic and biochemical approaches are employed to identify the molecular basis of neurogenetic disorders. We provide diagnostic support for a tertiary referral clinic for mitochondrial disorders and our research focus is to develop new therapies to treat various types of neurogenetic disease.

Sarah Campbell, Farrah Tate and Carolyn Sue with international colaborators Michio Hirano and Ichiso

Current studies include:

• Evaluating muscle function and metabolism in patients with mitochondrial disease using magnetic resonance imaging and phosphorous magnetic spectroscopy.
• The identification of new mtDNA mutations in patients suffering from mitochondrial diseases.
• The development of a new neuronal model to study neurogenetic diseases.
• Epidemiological studies to determine the role of mtDNA mutations and markers plays in age-related hearing loss and maculopathy, and
• Working to improve our understanding the mechanisms of cell death in patients with both mtDNA and nDNA encoded mitochondrial disorders.

This year our research also expands to investigate mechanisms involved in the aetiology of Parkinson’s disease, a common neurodegenerative disorder that is thought to affect 1% of Australians aged over 50 years.

Updated 22 December 2005