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Using High-throughput Genomics To Reveal The Deleterious Genetic Changes That Underlie Paediatric Leukoencephalopathies
Funder
National Health and Medical Research Council
Funding Amount
$1,003,712.00
Summary
There has been an explosion of high-throughput DNA sequencing technologies in the past five years, which have the potential to completely revolutionise medicine and scientific research. Here we present a series of studies showing the successful application of this technology to children with genetic disorders of the central nervous system. This proposal seeks to expand this study to a large cohort of similarly affected paediatric patients.
Diagnosis Of Inherited Genetic Disorders Using DNA Reference Standards
Funder
National Health and Medical Research Council
Funding Amount
$690,820.00
Summary
Whole genome sequencing can diagnose mutations that cause inherited disease, however, errors during sequencing and analysis can result in incorrect diagnosis. We propose to develop synthetic DNA standards that mirror important disease-associated mutations. These DNA standards are then added directly of a patient DNA sample and act as internal controls during sequencing and analysis to provide more accurate and reliable diagnosis.
A Study Of The Role Of Voltage-gated Potassium Channels In The Process Of Phototransduction, In The Setting Of Photoreceptor Sensitivity Levels And Response Times, And In The Progression Of A Distinctive Form Of Inherited Retinal Dystrophy
Funder
National Health and Medical Research Council
Funding Amount
$360,371.00
Summary
Inherited retinal disease is a major cause of blindness but the genetic basis is extremely heterogeneous. One such disorder, cone dystrophy with supernormal rod ERG, arises from mutations in KCNV2 that encodes a potassium voltage-gated channel protein. The objective of the project is to use animal models of the disease to determine the role of this channel protein in normal visual function and to assess the impact of loss of function on retinal development and function.
Defining The Leukaemogenic Mechanism For GATA2 T354M, A New Predisposing Mutation In Familial MDS/AML
Funder
National Health and Medical Research Council
Funding Amount
$631,883.00
Summary
A successful approach for identification of cancer genes has been to study the 5-10% of cases occurring in families with inherited predisposition to develop cancer. Unlike solid tumours, few cancer-causing mutations are known for haematological cancers. We have found a new mutation in 3 families in a gene (GATA2) not previously associated with familial acute myeloid leukaemia. We will explore how this mutation causes leukaemia to help better understand the more common non-inherited leukaemias.
Development Of A Bioinformatic Tool For The Rapid Identification Of Candidate Disease Genes
Funder
National Health and Medical Research Council
Funding Amount
$436,367.00
Summary
Candidate disease gene prediction systems assist geneticists by using biological data to suggest genes likely to be causative of diseases in regions of the genome delineated by genetic studies. This area has been enabled by completion of the Human Genome Project and increased availability of high-throughput experimental data and sophisticated bioinformatic tools. Identification of disease genes will contribute to an understanding of disease, as well as its prevention, diagnosis, and treatment.
Improving Sexual Health In Men With Prostate Cancer: Randomised Controlled Trial Of Exercise And Psychosexual Therapies
Funder
National Health and Medical Research Council
Funding Amount
$583,416.00
Summary
Sexual dysfunction is one of the most common and distressing side effects of prostate cancer. Despite being a critical survivorship care issue, there is a clear gap in knowledge surrounding the optimal treatment of sexual dysfunction in men with prostate cancer. This project examines whether exercise aids in the management of sexual dysfunction and explores if an integrated treatment model incorporating pharmacological, exercise and psychosexual therapies maximises improvement in sexual health.
Identifying The Missing Heritability Of Breast Cancer.
Funder
National Health and Medical Research Council
Funding Amount
$461,104.00
Summary
One of the strongest risk factors for the development of breast cancer is having a close relative with the disease. Some advances have been made in understanding the specific genetic factors that underlie this susceptibility but these known genetic factors only explain about a third of the overall familial effects. This research will utilise our prior research, international research resources, new technology and supercomputing to identify the majority of genetic factors associated with breast c ....One of the strongest risk factors for the development of breast cancer is having a close relative with the disease. Some advances have been made in understanding the specific genetic factors that underlie this susceptibility but these known genetic factors only explain about a third of the overall familial effects. This research will utilise our prior research, international research resources, new technology and supercomputing to identify the majority of genetic factors associated with breast cancer susceptibility.Read moreRead less
The Role Of Aspirin In The Prevention Of Colorectal Cancer
Funder
National Health and Medical Research Council
Funding Amount
$1,725,799.00
Summary
ASPREE is a large, phase 3 clinical study of health participants over the age of 70 years who have been randomized to either continuous low dose aspirin or placebo for an average of 5 years. This grant is concerned with collecting long-term follow-up for an additional 5 years, especially for evidence of colorectal cancer (CRC) as well as the exploration of potential mechanisms of action by which aspirin may prevent the development of CRC.
Investigating Signalling Pathways That Mediate Suppression Of Anoikis By Chemokine Receptors In Metastatic Breast Cancer Cells
Funder
National Health and Medical Research Council
Funding Amount
$597,349.00
Summary
This research aims at understanding the "nuts and bolts" of the main killer in cancer patients - tumour metastasis. We will look for molecules that are specific to metastatic tumour cells that transmit signals from the cell surface to the cell "suicide" machinery and prevent metastatic cancer cell death.
Tracking The Origins And Drivers Of Metastasis In Prostate Cancer
Funder
National Health and Medical Research Council
Funding Amount
$1,022,600.00
Summary
Prostate cancer is now the most commonly diagnosed cancer but only 10% of men with it, will die from it. Our current ability to discriminate between cancers with an indolent course and those that are lethal is poor. This project will examine the mixture of tumour clones (subclones) that are present in prostate cancers and define and track those cancer subclones that break away from the prostate and lodge in distant sites, causing death.