Our group investigates the way neurogenetic disorders develop.
We focus on Mitochondrial diseases and movement disorders. We also provide diagnostic support for our large clinic for patients with mitochondrial diseases and movement disorders.
Our focus is to develop accurate methods of diagnosis and advance understanding of how genetic mutations cause neurological disease. Ultimately, we aim to translate the results of our research into improved clinical care for our patients with neurological disorders.
Defining an individual’s disease-causing mutations provides clinicians and patients with information for appropriate treatment and genetic counselling. We use next-generation sequencing methods to discover and identify new gene mutations in individuals who may have unusual disease symptoms.
Our specific goal is to identify key molecular pathways involved in the development of neurological diseases, with a particular focus on mitochondrial function. To understand an individual’s genetic mutation, we use various methods including molecular biological techniques, mitochondrial function assays, biomarker measurement and patient derived stem cells to create in vitro models of neurological disease.
Our clinical studies are aimed at determining the history of mitochondrial diseases, identifying factors that can predict disease progression and severity, and developing tools to monitor disease progression to enhance the performance of clinical trials.
Funding sources include the Mito Foundation, the National Health and Medical Research Council, HSP Research Foundation, Parkinson’s NSW, the Hughie Foundation and the Rebecca Cooper Medical Research Foundation.
Find out more