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Glaucoma is the second leading cause of blindness in the world affecting approximately 70 million people. Glaucoma can occur at any age but the commonest type occurs in middle to old age. The disease has a genetic basis and can be inherited. As a result we have been studying the genetics of the disease in two large families from Tasmania. We hope to identify the genes involved in disease causation using a number of genetic techniques. Once mutations in a disease gene have been identified from af ....Glaucoma is the second leading cause of blindness in the world affecting approximately 70 million people. Glaucoma can occur at any age but the commonest type occurs in middle to old age. The disease has a genetic basis and can be inherited. As a result we have been studying the genetics of the disease in two large families from Tasmania. We hope to identify the genes involved in disease causation using a number of genetic techniques. Once mutations in a disease gene have been identified from affected individuals we will then be in a position to look for mutations in other family members and identify those individuals at risk of developing disease. Improvements in our understanding of how these genes are involved in disease causation will allow us to offer diagnostic testing to the wider community and develop better therapeutic interventions for treatment.Read moreRead less
Chronic Disease Outcomes And Enhanced Primary Care In Seniors: A Cross-Jurisdictional Linkage Project
Funder
National Health and Medical Research Council
Funding Amount
$1,077,766.00
Summary
This project will provide evidence on how best to use the efforts of Australian GPs to obtain better outcomes in patients aged 65+ years who suffer from chronic diseases such as diabetes, heart disease and high blood pressure, asthma and emphysema, seizures and stomach disorders. It will also examine the best way that GP visits can promote healthier ageing in all older seniors, aged 75+ years. For each disease and in older seniors, the study will be able to detect which of the following factors ....This project will provide evidence on how best to use the efforts of Australian GPs to obtain better outcomes in patients aged 65+ years who suffer from chronic diseases such as diabetes, heart disease and high blood pressure, asthma and emphysema, seizures and stomach disorders. It will also examine the best way that GP visits can promote healthier ageing in all older seniors, aged 75+ years. For each disease and in older seniors, the study will be able to detect which of the following factors are the most important for better patient health: (i) seeing a GP more times, (ii) seeing a GP at more even intervals, (iii) seeing the same GP, or (iv) seeing a GP with a lot of experience in chronic diseases. Separate investigations will be made in older people living in hostels and nursing homes, because their needs may be different. The study will also evaluate the benefits of a major change that occurred to Medicare in 1999, when GPs were paid to perform health assessments and to prepare health plans (with other health workers) for patients with chronic health problems. The results will enable this important initiative to be further improved. The study will use a unique and new Australian research facility, which has brought together health data on the entire population of WA from both the State and Commonwealth levels, including information on Medicare use, pharmaceuticals, hospital stays and deaths. The facility works in such a way as to preserve patient and GP privacy. A strong feature of this research will be the degree of involvement of a representative and voluntary group of older Australian patients who attend GP clinics, and the GPs themselves, in advising the researchers on what's important to consumers and GPs.Read moreRead less
Identifying Rare Genetic Variants Conferring Susceptibility To Multiple Sclerosis
Funder
National Health and Medical Research Council
Funding Amount
$293,898.00
Summary
Recently there has been success in identifying common genetic variants that confer susceptibility to multiple sclerosis. The variants that have been discovered so far have modest effects on risk of disease, and only explain a small proportion of familial aggregation of disease. In this study we aim to identify rarer genetic variants that have stronger effects on risk of disease, using new statistical methods and new methods to sequence very large amounts of DNA.
Improving Medication Safety In Seniors: A Cross-Jurisdictional Linkage Project
Funder
National Health and Medical Research Council
Funding Amount
$636,717.00
Summary
The project will identify priorities for tackling the current epidemic of hospitalisation of Australians aged 65+ years due to side effects of their medications. Two different groups of medications will be investigated. The first will be the prescribed drugs most often recorded as causes of hospital stay, including those taken to stop blood clotting, for high blood pressure and other cardiovascular problems, for rheumatism or strong pain relief, anti-cancer drugs and steroids. The study will exa ....The project will identify priorities for tackling the current epidemic of hospitalisation of Australians aged 65+ years due to side effects of their medications. Two different groups of medications will be investigated. The first will be the prescribed drugs most often recorded as causes of hospital stay, including those taken to stop blood clotting, for high blood pressure and other cardiovascular problems, for rheumatism or strong pain relief, anti-cancer drugs and steroids. The study will examine which of these drugs taken under what circumstances has the highest risk, so prevention can be better targeted. The study will investigate if adequate laboratory monitoring of the anti- clotting drugs is taking place and whether the guidelines should be updated. The second group will be 68 medications that should be avoided in seniors according to an international expert panel. The research will see how often these 'inappropriate medications' are still prescribed in the Australian setting, and the size of their contributions to unplanned hospital stays. The researchers suspect that this problem is much larger than immediately apparent from routine statistics, because many of the side effects of inappropriate medications are non-specific, such as confusion, drowsiness or difficulty standing up, thus putting seniors at risk of falls and neglect of other aspects of their health. The study will use a unique and new Australian research facility, which has brought together health data on the entire population of WA from both the State and Commonwealth levels, including information on pharmaceuticals, Medicare use, hospital stays and deaths. The facility works in such a way as to preserve patient and GP privacy. A strong feature of this research will be the degree of involvement of a representative and voluntary group of older Australian patients who attend GP clinics, and the GPs themselves, in advising the researchers on what's important to consumers and GPs.Read moreRead less
Hospital Admission, Cerebral Palsy, Intellectual Disability And Birth Defects In Assisted Conception Infants.
Funder
National Health and Medical Research Council
Funding Amount
$115,110.00
Summary
We have recently completed a study examining the prevalence of birth defects in assisted conception infants born in Western Australia from 1993-1997. Contrary to reassuring claims by other researchers in this area, we found that assisted conception infants have a two-fold increased risk of being diagnosed with a major birth defect by one year of age. We now propose to examine other long-term health outcomes in these children. This study involves record linkage between the WA Reproductive Technol ....We have recently completed a study examining the prevalence of birth defects in assisted conception infants born in Western Australia from 1993-1997. Contrary to reassuring claims by other researchers in this area, we found that assisted conception infants have a two-fold increased risk of being diagnosed with a major birth defect by one year of age. We now propose to examine other long-term health outcomes in these children. This study involves record linkage between the WA Reproductive Technology Register and four other population-based databases. The prevalence of cerebral palsy, intellectual disability, hospital admission and birth defects in assisted conception children born in WA between 1993 and 2001 will be compared to that seen in all other Western Australian children born over the same time period. The collection of information on risks associated with assisted conception treatment is vital to allow adequate counselling of couples considering fertility treatment. Cerebral palsy, intellectual disability, birth defects and hospital admission are all serious adverse health outcomes and, despite the introduction of IVF to most Western countries twenty years ago, there are limited data in the literature concerning the occurrence of these conditions in assisted conception infants. Quantifying the contribution of assisted conception treatment to neonatal, infant and childhood morbidity and mortality is also important for the planning of health service provision. Although assisted conception births represent only a small proportion of total births in Australia, these infants may require a disproportionate level of health care services, such as neonatal intensive care treatment due to complications associated with preterm or multiple birth. The wide application of assisted conception treatment in Australia and the increased number of pregnancies achieved by these means reinforce the urgent need for valid data on the health of children born after these procedures.Read moreRead less
Reliability Of An Online Geriatric Assessment Procedure
Funder
National Health and Medical Research Council
Funding Amount
$343,822.00
Summary
This study will examine the reliability, safety and cost of a novel new method of providing geriatrician assessment to older people in hospital. Nurses consult with the patient and enter their findings on a web-based software system that enables the geriatrician to review, report and make recommendations over the internet.
Novel Statistical Methods For Genetic Epidemiology
Funder
National Health and Medical Research Council
Funding Amount
$481,505.00
Summary
We are in the midst of a genomics revolution that is transforming epidemiology, medicine and drug discovery. However, the scarcity of sophisticated statistical techniques to deal with the complicated problems inherent in genetic investigations of complex diseases is currently the critical factor limiting the success of human gene discovery programs. Statistical genetic methodology is currently one of the fastest developing areas of epidemiology. In information-intensive' areas such as genetic ep ....We are in the midst of a genomics revolution that is transforming epidemiology, medicine and drug discovery. However, the scarcity of sophisticated statistical techniques to deal with the complicated problems inherent in genetic investigations of complex diseases is currently the critical factor limiting the success of human gene discovery programs. Statistical genetic methodology is currently one of the fastest developing areas of epidemiology. In information-intensive' areas such as genetic epidemiology, genomics, and proteomics, there is a high demand for data analysis and statistical skills. WA has some world class expertise in statistical science, both in academia and in industry. However, this expertise has not yet been applied in a system way to genetic data analysis. We propose to undertake advanced methodological research in statistical genetics and bioinformatics, to produce easy-to-use and accessible software tools and resources that allow methodological advances to be accessed by the Australian research community, and to apply our new methods and tools both to specific disease research and to the developing human genome epidemiology (HuGE) enterprise in WA. These new initiatives in methodological research will draw together a number of currently separate research strands and will provide new tools and resources that will allow applied Australian programs to improve the efficiency of their research into the causes of important. Methodological development in both bioinformatics and statistical genetics are recognized international areas of need.Read moreRead less
Identification Of Genes For X-linked Mental Retardation.
Funder
National Health and Medical Research Council
Funding Amount
$675,228.00
Summary
We propose to identify novel heritable causes of intellectual disability using 22 large and well-characterised families from Australia. In these families we have refined the location of the genetic defect to the chromosome X and excluded the contribution of all so far known genes. We will achieve this using the technology of massive parallel sequencing. At the completion of the project we will have identified novel causes of intellectual disability and devised tests to identify them.
Defining Genetic And Epigenetic Variation During Early Development
Funder
National Health and Medical Research Council
Funding Amount
$996,075.00
Summary
We all began life with a set of genes inherited from our parents. However, it's now known that from the time we were in the womb onwards that genes can be turned off and on by the environment or even completely lost or gained. Even what your mother ate or how she behaved while she was pregnant could have influenced your future health. Because people are so different, we are studying the subtle differences between twins to tease out the factors that may influence our genes and our health.
Radiostereometric Analysis Of The Effect Of A Large Articulation On Prosthetic Wear And Migration After Hip Replacement
Funder
National Health and Medical Research Council
Funding Amount
$192,186.00
Summary
At total hip replacement, there has been a recent trend to use prostheses with a larger ball and liner in the socket. This may decrease the risk of post-operative dislocation, but may also increase the amount of wear, leading to bone loss and loosening of prostheses, which may then require replacement. This project will use a special type of x-ray to determine whether wear and movement of these new prostheses is clinically acceptable, so that they can be used with confidence in patients.