• Source: Scopus
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20072021

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Personal profile

Biography

I am leader of the neuropathology and cell biology team, part of the large MND gene discovery program at the Centre for MND Research. I Received my PhD from the University of Queensland in Molecular and Cellular Pharmacology and undertook my first postdoc training at the ANZAC Research Institute, University of Sydney in Prof Ian Blair's group. There I was awarded a Bill Gole Fellowship from MND Research Australia to unravel the cell biology of MND. In 2010, I relocated to Macquarie University with Prof Ian Blair's group as a founding member of the centre for MND Research. I established the neuropathology and cell biology program where I investigated the molecular and cellular changes associated with novel and known MND proteins in patient-derived cells and post-mortem tissues. This work has led to several high impact publications and grants that can be found under the 'Research outputs' section.

Research interests

Gene mutations are the only proven cause of MND and these mutations provide us with the best tools to unravel the fundamental biology of disease. My team has extensive experience in idenifying the functional and pathological changes associated with novel and known MND-linked genes, including TARDBP, OPTN, UNQLN2, PFN1, repeat expansions in C9orf72, CCNF, CHCHD10 and hnRNPs. My program, part of the MND Research Centre's ambitious gene discovery pipeline, validate causal MND genes using pathological and cell biology strategies. The following projects are available in my team: 1) Functional validation of aberrant repeat expansion in ATXN2 and other novel MND candidate genes in an Australian MND family; 2) Neuropathological and analysis of novel and known MND proteins; 3) Targeting mitochondria as a novel therapeutic strategy for MND.

Teaching

I am the co-convenor of MEDI2301-Cellular and Molecular Neuroscience. The goal of this unit is to deliver general and specific aspects of the morphogenesis and function of neurons and glial cells and the dysfunction of the nervous system after injury and in disease. I am also a guest lecture of an equivalent third-year biochemistry and cell biolog subject MEDI3200 -Translational Biology and Genomics (formerly known as MEDI304-Advanced Clinical Science) which is a compulsory unit in the Bachelor of Clinical Science degree.

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