The Australian Research Data Commons (ARDC) invites you to participate in a short survey about your
interaction with the ARDC and use of our national research infrastructure and services. The survey will take
approximately 5 minutes and is anonymous. It’s open to anyone who uses our digital research infrastructure
services including Reasearch Link Australia.
We will use the information you provide to improve the national research infrastructure and services we
deliver and to report on user satisfaction to the Australian Government’s National Collaborative Research
Infrastructure Strategy (NCRIS) program.
Please take a few minutes to provide your input. The survey closes COB Friday 29 May 2026.
Complete the 5 min survey now by clicking on the link below.
Modelling Epileptic Encephalopathies Using Induced Stem Cells
Funder
National Health and Medical Research Council
Funding Amount
$506,489.00
Summary
Genetics is poised to have a massive impact on how we diagnose and treat diseases. Precision medicine is a relatively new concept that has been put forward to encompass approaches to finding genetic and functional markers of a disease process so that better treatments that are specifically targeted to a specific patients pathology. Here we will explore the development of stem cells to create "disease in a dish" models for severe forms of epilepsy to be used for development of new therapies.
Neurodegenerative Disease Pathology, Mechanisms, Models And Treatments
Funder
National Health and Medical Research Council
Funding Amount
$431,000.00
Summary
Frontotemporal dementia (FTD) and motor neuron disease (MND) are fatal and incurable neurodegenerative diseases. Although dissimilar in symptoms, most cases of both FTD and MND are characterised at autopsy by abnormal accumulations of the TDP-43 protein in neurons. In this fellowship, I will characterise the biochemical changes caused by TDP-43 malfunction that occur in both FTD and MND and test potential new therapeutics in mice, to identify new ways to treat these devastating diseases.
Validating A Potential Therapeutic For Amyotrophic Lateral Sclerosis
Funder
National Health and Medical Research Council
Funding Amount
$614,254.00
Summary
ALS is a form of motor neuron disease that quickly renders people paralysed by killing off the nerves needed for muscle control. It affects people when they are 40-60 years old, and very few survive more than 5 years after diagnosis. Our team is testing a new therapeutic compound that we have already shown to delay paralysis in mice with ALS. The work we are currently undertaking will provide all the necessary information required before we are able to test our compound in people with ALS.
Understanding The Early Disease Mechanisms Of Motor Neuron Disease And Frontotemporal Dementia
Funder
National Health and Medical Research Council
Funding Amount
$692,487.00
Summary
Motor neuron disease (MND) and frontotemporal dementia (FTD) are incurable, fatal neurodegenerative diseases. MND and FTD patients have similar brain and spinal cord pathology, but the causes of disease remain unclear. Using new genetically modified mice that for the first time recapitulate key features of the human diseases, this project will define the biochemical processes that contribute to disease onset and progression and will test potential disease-modifying therapeutics.
The Role Of Mutant Cyclin F In Amyotrophic Lateral Sclerosis
Funder
National Health and Medical Research Council
Funding Amount
$1,012,933.00
Summary
Amyotrophic lateral sclerosis (ALS, also known as motor neuron disease, MND) is characterised by rapid paralysis leading to death within 2 to 5 years of onset. There are no effective diagnostic tests or treatments. Confusion remains around the primary cause of paralysis. We recently discovered ALS gene mutations that disrupt normal nerve function, a process known as abnormal protostasis. This gives us a unique opportunity to unlock the primary cause of paralysis and develop animal models of ALS
Restoring Defective Protein Homeostasis In Frontotemporal Dementia
Funder
National Health and Medical Research Council
Funding Amount
$720,144.00
Summary
Frontotemporal dementia (FTD) is associated with pathological accumulation and aggregation of toxic proteins in affected brain regions. This project will employ a novel high throughput drug screening platform technology, FTD patient-derived nerve cells and genetic mouse models to screen drugs to improve clearance of toxic proteins and nerve cell health. This approach should accelerate discovery of agents to potentially treat the underlying cause of FTD in an effort to slow disease progression.
PYROXD1 - A Novel Myopathy Disease Gene Identifies A Redox Pathway Essential For Life
Funder
National Health and Medical Research Council
Funding Amount
$1,247,992.00
Summary
An Australian family with a rare myopathy has led to the discovery of a new gene called PYROXD1; a gene that all cells need to survive. PYROXD1 plays a critical role in protecting cells from oxidative stress. We are using patient samples and mouse models to find out what PYROXD1 does that is vital for cell and animal life. We will test whether redox therapies developed for neurodegenerative disorders might help patients with rare neuromuscular disorders, for whom there are no treatment options.
The aim of this application is to find new therapeutic strategies for genetic epilepsy. "Disease in a dish" models as well as whole animal models will be generated that contain patient gene mutations and the underlying disease processes will be characterised. Using these models a range of existing and new drugs will be tested to select those that most completely reverse these disease processes. These results will feed into clinical trials in patients with appropriate genetic profiles.
Epilepsy is a devastating disease with many patients poorly treated. We have identified a novel ion channel target in the brain that reduces seizure susceptibility. The aim of this proposal is to fully explore this target in a number of epilepsy mouse models using both pharmacology and molecular techniques.
Advancing The Diagnosis And Treatment Of Inherited Muscle Disorders
Funder
National Health and Medical Research Council
Funding Amount
$408,388.00
Summary
Inherited myopathies collectively affect ~1 in 1000 people, cause life-long disability and often shortened life. This fellowship addresses two key areas of need. 1. New gene discovery for the inherited myopathies using the latest genetic techniques and 2. developing therapies. I will test two recently developed drugs as potential treatments for tropomyosin myopathies and investigate key areas of disease mechanism for tropomyosin and RYR1 myopathies to identify new therapeutic targets.