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Carolyn Sue is a neurologist and scientist investigating the role of disturbed mitochondrial function in human disease. Mitochondria play a key role in maintaining energy levels and the cell’s health. When this function is impaired, cells may degenerate or die, and thus cause human disease. Dr Sue’s research is aimed at seeking improved treatments to treat mitochondrial disease and to further understanding about how brain cells degenerate when the mitochondria fail.
Mitophagy And Mitochondrial Biogenesis In Mitochondrial Disease
Funder
National Health and Medical Research Council
Funding Amount
$307,946.00
Summary
Mutations in mitochondrial DNA and nuclear encoded mitochondrial genes cause mitochondrial disease, with one in every 250 Australians carrying a pathogenic mutation. In this project, we will further define the basic function of mitophagy (process that results in the recycling of defective mitochondria) and mitochondrial biogenesis (production of new mitochondria). Additionally, experimentally induced enhancement of mitophagy or biogenesis will be assessed as a potential therapy for patients with ....Mutations in mitochondrial DNA and nuclear encoded mitochondrial genes cause mitochondrial disease, with one in every 250 Australians carrying a pathogenic mutation. In this project, we will further define the basic function of mitophagy (process that results in the recycling of defective mitochondria) and mitochondrial biogenesis (production of new mitochondria). Additionally, experimentally induced enhancement of mitophagy or biogenesis will be assessed as a potential therapy for patients with mitochondrial disease.Read moreRead less
Nix Mediated Mitophagy: A New Therapeutic Approach To Parkinson's Disease
Funder
National Health and Medical Research Council
Funding Amount
$674,428.00
Summary
Parkinson’s disease (PD) is the most common neurodegenerative movement disorder in the world. A key problem in PD is that affected neurons lose energy and then die. We have discovered that by recycling mitochondria (the parts of the cell that produce energy), we can protect neurons from dying and restore function. This project will determine whether mitochondrial recycling mediated by Nix can restore energy and prevent neuronal loss. This would represent a new therapeutic approach to treat PD.
Recognising And Improving Management Outcomes Of Adult Patients With Mitochondrial Diseases
Funder
National Health and Medical Research Council
Funding Amount
$87,199.00
Summary
Mitochondrial diseases comprise the most common diagnostic group amongst neuromuscular and neurogenetic diseases, but are not well known in the community, with no established standards of management. The Study aims to devise strategies to deliver better care for patients with mitochondrial diseases, from their screening and diagnosis, continued monitoring and prognostication, to the potential treatment and promotion of a better management paradigm; as well as facilitation of ongoing research int ....Mitochondrial diseases comprise the most common diagnostic group amongst neuromuscular and neurogenetic diseases, but are not well known in the community, with no established standards of management. The Study aims to devise strategies to deliver better care for patients with mitochondrial diseases, from their screening and diagnosis, continued monitoring and prognostication, to the potential treatment and promotion of a better management paradigm; as well as facilitation of ongoing research into the management of patients with these diseases.Read moreRead less
Examining The Specific Vulnerability Of Dopaminergic Cells To Bioenergetic Defects Using Patient-derived Induced Pluripotent Stem Cells As A Model Of Parkinson’s Disease
Funder
National Health and Medical Research Council
Funding Amount
$112,366.00
Summary
The project will develop new cell models of Parkinson's disease utilising the recently discovered technique of inducing pluripotent stem cells from adult skin cells and differentiating them into the type of neurons that are affected in Parkinson's disease. The novel method will allow further insights to be gained into the molecular pathways involved in the disease and facilitate a search for means to rescue these cells from neurodegenerative processes.
Improving Diagnosis, Treatment And Prevention Of Mitochondrial Disease
Funder
National Health and Medical Research Council
Funding Amount
$487,891.00
Summary
The goal of this work is to use state-of-the-art research methods to improve clinical practice and the health outcomes for patients with mitochondrial disease and other neurological disorders. Professor Sue will undertake an integrated program involving clinical studies, bioinformatics, tissue culture and in vitro cell modelling to discover better ways to treat mitochondrial disease and other neurological diseases due to impaired mitochondrial function.
Correlating Multiple Sclerosis Risk SNPs With Immune Cell Gene Expression
Funder
National Health and Medical Research Council
Funding Amount
$789,386.00
Summary
In Multiple Sclerosis (MS), the immune system repeatedly attacks the brain and spinal cord. In the last three years, rapid progress has been made in understanding genetic risk factors for MS, and more than 20 are known, but their function is not understood. The proposed study will recruit patients with MS and healthy controls to isolate five major immune cell types, and will assess how risk genes influence these cells. We hope to obtain a much better picture of how genetic risk factors for MS ac ....In Multiple Sclerosis (MS), the immune system repeatedly attacks the brain and spinal cord. In the last three years, rapid progress has been made in understanding genetic risk factors for MS, and more than 20 are known, but their function is not understood. The proposed study will recruit patients with MS and healthy controls to isolate five major immune cell types, and will assess how risk genes influence these cells. We hope to obtain a much better picture of how genetic risk factors for MS actually work.Read moreRead less
A Longitudinal Neuroimaging Study Investigating Reorganisation Of Cerebellar-cerebral Networks In Friedreich Ataxia
Funder
National Health and Medical Research Council
Funding Amount
$816,908.00
Summary
Friedreich ataxia (FRDA) causes debilitating motor and cognitive deficits. We propose a longitudinal multi-modal magnetic resonance (MR) imaging study to measure different types of tissue in the brain in this disease. We seek to understand how the brain reorganises itself due to cell loss in the spinal cord, cerebellum and cerebral cortex. This study will establish sensitivity of a range of MR imaging measures as potential biomarkers for use in large multi-centre drug trials in this disease.