Neurogenetics

Our group investigates the way neurological disorders develop.

We focus on understanding the cause of Mitochondrial diseases, Parkinson’s disease and a range of other 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.

Starry galaxy: The image shows olfactory neural stem cells derived from a patient with a neurodegenerative disease. Cells have an active transport system working continuously to transport cargo to different parts of the cells. The "red dots" (cellular organelles) are transported along the green "railway tracks" (actin cytoskeleton). The nucleus shown in blue is the centre of the cell. The patient cell transport system is disrupted as a consequence of the disease gene mutation. Image credit: Dr Gautam Wali


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 natural 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 National Health and Medical Research Council, the Mito Foundation, HSP Research Foundation, Parkinson’s NSW, the Hughie Foundation and the Rebecca Cooper Medical Research Foundation


Professor Carolyn Sue AM

Executive Director of the Kolling Institute
Director of Neurogenetics
Director of the Centre of Excellence for Parkinson’s Disease and Movement Disorders
Senior Staff Specialist in Department of Neurology at Royal North Shore Hospital
Director of the National Centre for Adult Stem Cell Research (Sydney Node)

Professor Sue is an internationally recognised expert on movement disorders and mitochondrial diseases. Working as a clinician scientist at the Kolling Institute and Royal North Shore Hospital, Professor Sue runs tertiary referral clinics for patients with complex neurogenetic conditions, including Parkinson’s disease, mitochondrial diseases and other inherited movement disorders.

Professor Sue completed her PhD at the University of Sydney in 1997 before carrying out her postdoctoral research at Columbia University in New York. She returned to Sydney in 2000 to establish her own research team at the Kolling Institute. Professor Sue currently leads a team including five postdoctoral scientists, four PhD students, and two research assistants.

Under her leadership, research in the Department of Neurogenetics focuses on bridging the gap between clinical and molecular science. Professor Sue has a major interest in understanding the disease processes involved in neurological disorders, with an emphasis on developing new treatment options for patients.

In 2019, Professor Sue was awarded the Order of Australia for significant services to medicine.

Dr Ryan Davis

Mid Career Research Fellow

Dr Gautam Wali

Research Fellow

Dr Wen Li

Postdoctoral Researcher

Dr Daniel Whiten

Postdoctoral Scientist

Dr Karen Crawley

Research Fellow

Dr Christina Liang

Postdoctoral Scientist

Dr Carly Browning Oboudiyat

Clinical Research Fellow

Dr Yan Li

Postdoctoral Scientist

Dr Annette Kifley

Biostatistician

Professor Marie Dziadek – Senior Scientific Officer

Ella Sommerville Glover – Research Assistant

Erandhi Linyage – Research Assistant

Gayathiri Rajakumar – Research Assistant

Michal Lubomski - PhD student

Sue-Faye Siouw - PhD student

Eloise Watson - PhD student

Sameen Haque - PhD student

Abigail Kay – Personal Assistant to Professor Carolyn Sue & Research Project Officer

University of Sydney: Brain and Mind Centre, ForeFront Ageing and Neurodegeneration team

Garvan Institute: Kinghorn Centre for Clinical Genomics

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.

Events, News and Seminars

High-profile appointment

High-profile appointment

The Kolling Institute’s Executive Director Professor Carolyn Sue will join a dynamic group of Austra..... Read more

Category: Research Excellence

Living with  Parkinson's disease

Living with Parkinson's disease

As a single mum of four children, Jo Makamaka is juggling many responsibilities. She is not complain..... Read more

Category: Neuroscience and Pain Research, Research Excellence

World-leading research in the spotlight

World-leading research in the spotlight

The Neuroscience and Pain Research Showcase provided a timely opportunity to demonstrate the breadth..... Read more

Category: Neuroscience and Pain Research, Research Excellence, World-leading technology