1. Biomarkers of mitochondrial diseases.
Researcher: Dr Ryan Davis, Professor Carolyn Sue
Mitochondrial disease describes a wide range of progressive multi-system disorders caused by any one of over 300 different genetic mutations. Symptoms may appear at birth or later in life and the severity of disease is highly unpredictable. Mitochondrial diseases are extremely difficult to diagnose as symptoms overlap with many other common disorders.
Although there is no cure, it is important to identify which type of mitochondrial disease is present and understand the genetics of the disease. This will help ensure optimal clinical care and predict the risk of recurrence for the next generation. Using various techniques, including Nuclear Magnetic Resonance spectroscopy, we are working to define reliable biomarkers and establish a definitive metabolic diagnostic test for mitochondrial diseases.
2. Longitudinal gut microbiome changes in Parkinson’s disease patients.
Researchers: Dr Michal Lubomski (PhD candidate), Dr Ryan Davis, Professor Carolyn Sue, in collaboration with Professor Andrew Holmes and Professor Jean Yang at University of Sydney.
Research shows that an imbalance in the gastrointestinal microbiome may contribute to the development and progression of Parkinson’s disease. The ability to modulate the gastrointestinal microbiome to protect against or slow progression of Parkinson’s disease would revolutionise treatment of the disease. Our group is investigating changes in the composition of the gastrointestinal microbiome of Parkinson’s disease patients compared to healthy individuals, and how different Parkinson’s disease treatments influence the gastrointestinal microbiome. The study involves standard molecular biological techniques and next generation sequencing.
3. NIX-mediated Mitophagy: a new therapeutic approach to Parkinson’s disease.
Researchers: Dr Wen Li, Professor Carolyn Sue, in collaboration with Dr YuHong Fu and Professor Glenda Halliday at University of Sydney,
A treatment capable of slowing or preventing neuro-degeneration has the potential to substantially improve the lives of those suffering from Parkinson’s disease. Quality control of mitochondria (mitophagy) is essential for the survival and function of neurons. Genetic studies have shown that mitophagy is under the control of two genes called PINK1 and Parkin and that mutations in these genes can cause Parkinson’s disease. We are investigating whether a healthy population of mitochondria can be maintained in neurons affected by genetic forms of Parkinson’s disease, by activating mitophagy through an alternative route – the Nix pathway.
4. Patient-derived stem cell models to study disease mechanisms and screen drug candidates for Hereditary Spastic Paraplegia.
Researchers: Dr Gautam Wali, Professor Carolyn Sue, in collaboration with Professor Alan Mackay-Sim at Griffith University
Hereditary spastic paraplegia is a movement disorder in which the corticospinal motor neurons degenerate. The goal of our research program is to understand the cellular consequences of different hereditary spastic paraplegia mutations and find therapeutic drug candidates for each specific genotype. Our current focus is on the two most common forms of hereditary spastic paraplegia - - SPAST and SPG7 HSP. For this we use patient-derived adult olfactory neural stem cell and induced pluripotent stem cell models.
Neurons that fire together - wire together: The image shows a network of induced pluripotent stem cell-cortical neurons derived from a patient suffering a neurological disorder. While the red fluorescence identifies neurons (beta III tubulin), the green fluorescence identifies their inter-connectivity (Synapsin). Image credit: Dr Gautam Wali
5. Biomarker for Hereditary spastic paraplegia
Researchers: Dr Gautam Wali, Dr Sue-Faye Siow (PhD candidate), Dr Kishore Kumar, Professor Carolyn Sue
Hereditary spastic paraplegia results in significant disability with no curative or disease-modifying treatment. The lack of standardised biomarkers of disease severity has limited the evaluation of potential therapeutic agents. Our aim is to identify a biomarker for the disease by evaluating differential protein expression between hereditary spastic paraplegia patients and healthy controls. For this we use easily accessible patient samples including blood, urine and skin cells.