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Defining The Role Of Genomic Structural Variations In Hypertension And Cardiovascular Disease
Funder
National Health and Medical Research Council
Funding Amount
$379,597.00
Summary
High blood pressure is caused by a variety of inherited alterations (mutations) in the letters our DNA and lifestyle. The aim of this project is to investigate gains and losses of large portions of DNA sequences consisting of between ten thousand and over a million letters (known as Copy Number Variation). We will compare the DNA of subjects who have high blood pressure with subjects who are normal. This discovery of changes may help diagnosis, prevention and treatment.
Screening For Abdominal Aortic Aneurysms: Long-term Outcome And Role Of Circulating Markers Of Glycation
Funder
National Health and Medical Research Council
Funding Amount
$140,497.00
Summary
The abdominal aorta may undergo dilatation resulting an aneurysm. Some aneurysms may rupture causing death. The risk of rupture increases once the diameter exceeds 5cm. The management is detection and surgery for large aneurysms. As most aneurysms are asymptomatic prior to rupture screening of men using ultrasound may save lives. The aims of this study are to assess the role of screening on mortality from aneurysms and to assess a new blood test which may help monitor aneurysms.
Elucidation Of The Genetic Mechanisms Of Primary Aldosteronism: The Most Common, Curable Form Of Hypertension
Funder
National Health and Medical Research Council
Funding Amount
$334,338.00
Summary
Hypertension is a major cardiovascular risk factor that affects 10-40% of the population. The steroid hormone aldosterone controls blood pressure and plays a significant role in hypertension. Primary Aldosteronism (PAL), a condition caused by the excessive production of aldosterone, is the most common, curable form of hypertension. I will identify the molecular mechanisms responsible for PAL, to advance the development of new diagnostic tools and identification of novel therapeutic targets.
Clinical, Genetic And Psychosocial Aspects Of Sudden Cardiac Death
Funder
National Health and Medical Research Council
Funding Amount
$433,423.00
Summary
Sudden cardiac death (SCD) in the young is a tragic complication of a number of genetic heart diseases. Families must deal with profound grief and act on the genetic risk to themselves and other relatives. Clinical management can include the implantable cardioverter defibrillator (ICD) and is the only therapy proven to prevent SCD. This proposal seeks to investigate the clinical, genetic and psychosocial aspects of managing families who present following a SCD, including psychological outcomes o ....Sudden cardiac death (SCD) in the young is a tragic complication of a number of genetic heart diseases. Families must deal with profound grief and act on the genetic risk to themselves and other relatives. Clinical management can include the implantable cardioverter defibrillator (ICD) and is the only therapy proven to prevent SCD. This proposal seeks to investigate the clinical, genetic and psychosocial aspects of managing families who present following a SCD, including psychological outcomes of life-saving ICD therapy.Read moreRead less
Ion channels are molecular pores of excitable membranes facilitating passage of ions and organic solutes across cellular membranes. An ever-increasing number of human and animal diseases result from malfunctioning ion channels making them to important therapeutic targets, which are modulated by a range of currently prescribed drugs. In the recent years the scientific and medical community has become increasingly aware of the role that mechanosensitive ion channels play in pathology of diseases i ....Ion channels are molecular pores of excitable membranes facilitating passage of ions and organic solutes across cellular membranes. An ever-increasing number of human and animal diseases result from malfunctioning ion channels making them to important therapeutic targets, which are modulated by a range of currently prescribed drugs. In the recent years the scientific and medical community has become increasingly aware of the role that mechanosensitive ion channels play in pathology of diseases including cardiac hyperthrophy and arrhythmias.Read moreRead less
UNLOCKING GENETIC FACTORS PREDICTING TYPE 2 DIABETES COMPLICATIONS FOR CLINICAL PRACTICE: THE FIELD STUDY
Funder
National Health and Medical Research Council
Funding Amount
$2,503,122.00
Summary
Heart disease, stroke, eye and kidney diseases in diabetes have both environmental and genetic predispositions. With over 5000 Australians with diabetes, this research in the FIELD study is to identify the important genetic contributors to these complications. It will explore how the genetic features cause disease and whether the most important ones can be screened for in simple blood tests. It will also examine whether the genetic damage of ageing is accelerated in diabetes.
Genetic Basis Of Sudden Cardiac Death In The Young
Funder
National Health and Medical Research Council
Funding Amount
$574,500.00
Summary
Sudden cardiac death is a devastating complication of a variety of cardiovascular disorders. In the young, sudden cardiac death can be caused by both structural abnormalities of the heart, e.g. cardiomyopathies, and electrical abnormalities of the heart, such as familial long QT syndrome. In most young sudden cardiac deaths, these cardiovascular disorders are caused by underlying gene abnormalities which place individuals at a higher risk of sudden death. The aim of this project is to understand ....Sudden cardiac death is a devastating complication of a variety of cardiovascular disorders. In the young, sudden cardiac death can be caused by both structural abnormalities of the heart, e.g. cardiomyopathies, and electrical abnormalities of the heart, such as familial long QT syndrome. In most young sudden cardiac deaths, these cardiovascular disorders are caused by underlying gene abnormalities which place individuals at a higher risk of sudden death. The aim of this project is to understanding the genetic basis of sudden cardiac deaths in the young. In particular, the study will identify and characterise the specific genes which cause sudden cardiac death, and what the underlying mechanism is regarding how a single gene defect can lead to such a devastating clinical outcome. Understanding the various cardiovascular diseases that cause sudden death, clinically screening at-risk individuals, coupled with the initiation of appropriate therapeutic and preventative strategies such as implantation of cardioverter defibrillators will most likely reduce the incidence of sudden cardiac death in the young of our community. Elucidation of the underlying genetic defects which cause many of these cardiac disorders will substantially improve diagnostic accuracy, will be invaluable for genetically screening at-risk individuals and by making the diagnosis earlier in life, will create a larger therapeutic window to allow initiation of therapies to prevent complications of disease, including sudden death.Read moreRead less
Cardiomyopathies (heart muscle problems) are the most common inherited heart conditions and represent an important clinical problem. The clinical and psychosocial impact on both the children and their families is significant. The proposed research will improve our understanding of the clinical and genetic basis of childhood cardiomyopathies, and how genetic factors may influence the development, progression, and clinical outcome, including heart failure, transplantation, and sudden death.
New Gene Discovery In Familial Hypertrophic Cardiomyopathy
Funder
National Health and Medical Research Council
Funding Amount
$418,493.00
Summary
Familial hypertrophic cardiomyopathy is a genetic heart disorder which affects 1 in 500 of the population, and can lead to heart failure and sudden death. Identification of the genetic causes of hypertrophic cardiomyopathy has important implications for our understanding of this disease, and in translating these genetic discoveries into better diagnostic and prevention strategies in at-risk families. This research proposal seeks to perform a comprehensive clinical and genetic investigation of pe ....Familial hypertrophic cardiomyopathy is a genetic heart disorder which affects 1 in 500 of the population, and can lead to heart failure and sudden death. Identification of the genetic causes of hypertrophic cardiomyopathy has important implications for our understanding of this disease, and in translating these genetic discoveries into better diagnostic and prevention strategies in at-risk families. This research proposal seeks to perform a comprehensive clinical and genetic investigation of people with familial hypertrophic cardiomyopathy.Read moreRead less