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Nemaline myopathy is a neuromuscular condition characterised by muscle weakness, low muscle tone and the finding of nemaline bodies or rods on muscle biopsy. This study encompasses a natural history study of nemaline myopathy, genetic diagnosis and gene discovery using new methods of genetic testing, characterisation of a new disease gene for this condition, and reviewing patient experience with tyrosine, a medication commonly used in patients with nemaline myopathy.
ARMC5 And Other Genetic Contributions In Endocrine Neoplasia
Funder
National Health and Medical Research Council
Funding Amount
$124,676.00
Summary
The adrenal glands secrete essential hormones and can enlarge or develop tumours leading to conditions including obesity, high blood pressure, diabetes, brittle bones and infections. We recently found that adrenal enlargement and tumours may be due to changes in the ARMC5 gene. We will perform genetic testing in affected patients across Australia to evaluate the roles of ARMC5 & other genes. Our goal is to better understand how these conditions develop so as to improve diagnosis and treatment.
The Benefits And Harms Associated With Breast Cancer Screening In The Australian Context.
Funder
National Health and Medical Research Council
Funding Amount
$80,222.00
Summary
Australia is caught in a dilemma. Breast screening is well-established however there has been fierce debate about the value of screening programmes. I will determine the frequency of benefit and harm due to breast screening programs in Australia to better understand the true extent of overdiagnosis and overtreatment. Based on this information, I will make recommendations about how breast screening should be provided in Australia in future and clearly communicate this information to the community
Cardiomyopathy is the term used to describe diseases that affect the heart, in particular the muscle fibres which contract with each heartbeat. Dysfunction of these muscle cells is a significant cause of cardiovascular disease that can affect people of all ages. Recent studies have demonstrated that many cardiomyopathies may have an underlying genetic basis. This project will identify genes that are involved in heart disease and aid the development of improved treatment programs for these disord ....Cardiomyopathy is the term used to describe diseases that affect the heart, in particular the muscle fibres which contract with each heartbeat. Dysfunction of these muscle cells is a significant cause of cardiovascular disease that can affect people of all ages. Recent studies have demonstrated that many cardiomyopathies may have an underlying genetic basis. This project will identify genes that are involved in heart disease and aid the development of improved treatment programs for these disorders.Read moreRead less
Investigations Into The Aetiology Of Giant Cell Arteritis
Funder
National Health and Medical Research Council
Funding Amount
$165,067.00
Summary
Despite much research the precise pathoetiology of giant cell arteritis is poorly understood. Both environmental and genetic factors are thought to contribute to disease development. Though to date, no overriding mechanism for disease development has been identified. This research will apply modern molecular techniques to further explore the pathogenic processes in this devastating disease which in turn will hopefully provide insight into novel treatment modalities.
GENETIC AND FUNCTIONAL CHARACTERISATION OF ERAP1 VARIANTS ASSOCIATED WITH ANKYLOSING SPONDYLITIS.
Funder
National Health and Medical Research Council
Funding Amount
$133,351.00
Summary
Ankylosing Spondylitis is a progressive arthritis which affects the back and causes the back joints to fuse. The project seeks to investigate the role of the ERAP1 protein and the gene which is the blueprint for the ERAP1 protein in causing Ankylosing Spondylitis. This will be through resequencing the gene, investigating the action of the different ERAP1 proteins and the effect of ERAP1 deficiency in mice.
Molecular And Structural Determinants Of Myocardial Dysfunction And Prognosis In Left And Right Heart Failure.
Funder
National Health and Medical Research Council
Funding Amount
$124,608.00
Summary
The aim of this research is to investigate the role of inherited genetic variation on myocardial function and prognosis in patients with cardiomyopathies as well as pulmonary hypertension. Clinical, cardiac genomic and myocardial tissue studies will be undertaken in various patient cohorts. It is hoped that this research will provide new insights into disease mechanisms, and will contribute to new approaches to patient management and risk stratification.