The CNS Gene Therapy Group is interested in the molecular mechanisms of normal and pathological functions of neurons and myelin-forming cells in the central nervous system. Our main focus is on a group of neurological disorders termed leukodystrophies. The word leukodystrophy is of Greek origin and translates into ‘leuko = white’, ‘dys = abnormal’ and ‘troph = growth’. Leukodystrophies are genetic diseases of the brain white matter associated with an early onset and substantial mortality in children. The population incidence is estimated to be one in 7,600 live births and to date there are no effective treatments available. Our aim is to establish targeted gene therapy strategies for leukodystrophies and other neurological disorders.
The first step in understanding these devastating conditions is to establish accurate disease models, which enable us to study the underlying pathophysiology and to explore novel therapeutic approaches. Once established, we leverage these models to develop novel gene therapy strategies. We have a long-standing interest in adeno-associated viruses (AAV) as gene therapy vectors and as tools in basic research.
We are developing the current AAV platform in two directions:
Our research group employs state-of-the-art techniques, including behavioural testing, neurogenetics, molecular biology, histology, and neuroimaging to characterise disease models and to assess the therapeutic outcome of gene therapy.
Commencing in 2023, the CNS Gene Therapy Group is supported through two new research grants from the NHMRC and MRFF. This funding will expand the spectrum of neurological diseases investigated by the group to include dementias, specifically globular glial tauopathies, as well as hereditary spastic paraplegias. Employing the refined pre-clinical modelling and gene therapy platforms, developed through the leukodystrophy research program, will help to uncover the pathophysiology underlying these currently incurable conditions and guide the development of tailored treatment strategies.