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Investigating The Role Of The UPF3B Gene And Nonsense Mediated RNA Decay (NMD) Process In Mental Retardation.
Funder
National Health and Medical Research Council
Funding Amount
$572,710.00
Summary
Intellectual disability is a frequent and important medical problem. Genetic and environmental factors contribute about equally to the aetiology of intellectual disability. Estimated 1-3% of population suffer from a form of intellectual disability. Among the genetic factors contributing to intellectual disability are genes, and their mutations, on one of the human chromosomes, chromosome X. We have been studying human X-chromosome genes for many years and discovered in excess of 20 novel genes c ....Intellectual disability is a frequent and important medical problem. Genetic and environmental factors contribute about equally to the aetiology of intellectual disability. Estimated 1-3% of population suffer from a form of intellectual disability. Among the genetic factors contributing to intellectual disability are genes, and their mutations, on one of the human chromosomes, chromosome X. We have been studying human X-chromosome genes for many years and discovered in excess of 20 novel genes causing various forms of intellectual disability. Surprisingly the number of genes, in which mutations cause various forms of intellectual disability is unexpectedly high. Just on the human X-chromosome we expect in excess of 200 such genes, which is nearly 30% of the gene content of this chromosome. We propose to study a novel gene, UPF3B, we recently identified to be mutated in a form of intellectual disability. The normal function of this gene and its protein is known to a certain extent. The UPF3B protein plays a role of a guardian of other genes in human (and also other species) cells. The role of the UPF3B protein is to prevent erroneous genetic information to be used for the building of proteins with potentially toxic effects to the organism. In our patients this process clearly malfunctions as a consequence of the damaged UPF3B gene. We propose to shed some more light in to the molecular intricacies of this process with the aim to better understand the mechanics of the process. Families, which participate in our studies and have this gene involved will benefit from the availability of direct test. Multiple other families around the world are also likely to benefit, now or in the future.Read moreRead less
Predicting Health And Disease In Australian Men Over The Age Of 80 Years - The Health In Men Study
Funder
National Health and Medical Research Council
Funding Amount
$528,754.00
Summary
Australia is ageing rapidly but we still do not know whether the risk factors, such as health and lifestyle, that predict ill health in middle aged people, apply to people as they reach old age. This study of a large group of older men will examine the type and level of risk factors that apply to men aged beyond 75 years. It will not only determine rates of disability and mortality but also health service outcomes, including hospitalisation, and residential and community care usage.
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
Pathways To Mental Health And Obesity In Young Adults: A Longitudinal Study
Funder
National Health and Medical Research Council
Funding Amount
$698,510.00
Summary
While the health of the population has been gradually improving, there are some health problems which are increasing. The mental health of young people is one such area. Based on data relating to youth suicide, substance abuse, cigarette smoking by females and behavioural or mental health problems in the young, there has been evidence of a marked increase in some important health problems faced by the young. Little is known about the causes of these problems and even less is known about the reas ....While the health of the population has been gradually improving, there are some health problems which are increasing. The mental health of young people is one such area. Based on data relating to youth suicide, substance abuse, cigarette smoking by females and behavioural or mental health problems in the young, there has been evidence of a marked increase in some important health problems faced by the young. Little is known about the causes of these problems and even less is known about the reasons for the increase. Based on the available evidence, 20-25% of young persons manifest a mental health problem. A second area of marked health deterioration concerns youth (and adult) obesity. Existing research points to the accumulation of cardiovascular risk factors associated with obesity from a very early age. Over 10% of youth are obese and a substantially higher proportion are overweight. There is evidence that the rate of obesity has been substantially increasing. Again little is known about the factors that contribute to obesity or the causes of the increase in the rates of obesity in the population. This proposal is for a 21-year follow-up of a sample of youth first enrolled when their mothers attended for their first obstetrical visit. Using a substantial body of existing data, we propose to examine the changes in levels of mental health and obesity and to identify the factors which contribute to these changes. This study involves the largest Australian cohort ever assembled for such research. The main questions asked in this study concern the impact of the mother's social and economic circumstances, her physical health and well-being, her use of addictive substances (including alcohol, cigarettes, illicit drugs) on the youth's health. We will also examine the association between early indicators of mental health and well-being and subsequent youth health and development.Read moreRead less
Motor Functioning In Autism And Asperger's Disorder: Furthering Current Neurobehavioural And Clinical Definitions
Funder
National Health and Medical Research Council
Funding Amount
$354,932.00
Summary
While it is well known that autism and Asperger's disorder are associated with social, communicative, and behavioural symptoms, it is less well known that affected individuals also have considerable movement and coordination difficulties. For example, these children often have problems with hand writing, walking, hopping, skipping, catching, and running. These skills are very important for success at school; for example, if children are unable to participate in school sports they often feel isol ....While it is well known that autism and Asperger's disorder are associated with social, communicative, and behavioural symptoms, it is less well known that affected individuals also have considerable movement and coordination difficulties. For example, these children often have problems with hand writing, walking, hopping, skipping, catching, and running. These skills are very important for success at school; for example, if children are unable to participate in school sports they often feel isolated and rejected from the peer group. Also, hand writing problems have a significant impact on children's academic performance. Our previous research has suggested that there may be particular patterns of motor problems that characterise individuals with autism and Asperger's disorder. Our proposed research aims to use the kinds of 3D motion analysis technology used in the movie industry to capture exactly how people affected by these conditions move and respond to the environment. This study will enable us to highlight particular parts of the brain-motor circuitry that are affected by these disorders and will also enable us to more clearly distinguish how autism is different from Asperger's disorder. Ultimately, it is hoped that our motor investigations will lead to improved assessment and interventions for these disorders.Read moreRead less
Testing A Tailored, Evidence-based Education Intervention To Enhance Outcomes For Patients Commencing Chemotherapy
Funder
National Health and Medical Research Council
Funding Amount
$311,250.00
Summary
This project tests an innovative education program aimed at reducing the physical and psychosocial burden experienced during a course of cancer chemotherapy. The aim of the study is to reduce the burden and distress associated with cancer chemotherapy. Cancer chemotherapy is associated with physical (nausea, fatigue, hair loss, infection) and psychosocial (fear, anxiety, worry about family) effects that cause significant distress. Patients experience a highly level of pre-treatment anxiety and f ....This project tests an innovative education program aimed at reducing the physical and psychosocial burden experienced during a course of cancer chemotherapy. The aim of the study is to reduce the burden and distress associated with cancer chemotherapy. Cancer chemotherapy is associated with physical (nausea, fatigue, hair loss, infection) and psychosocial (fear, anxiety, worry about family) effects that cause significant distress. Patients experience a highly level of pre-treatment anxiety and for many this distress lasts across the course of treatment. Over the past decade there has been a dramatic shift in chemotherapy delivery to the outpatient setting. This means that patients are now responsibile for monitoring their own health at home and may need to use self-care strategies to deal with the many adverse effects of treatment. Pre-treatment education has usually focused on providing information about the facts of treatment, i.e. likelihood of nausea, rather than preparing the patient for the experience of treatment or helping them to manage the self-care demands associated with receiving treatment in the outpatient setting. The innovative education program tested here is the first of its type to draw on high level research evidence about preparing patients for potentially threatening medical procedures, tailoring this education to the individual situation of the patient and coaching the patient to implement evidence-based self-care behaviours and to use stress reduction techniques across the course of treatment.Read moreRead less
Epilepsy is the name of a group of disorders where seizures occur. 5% of people will have at least one seizure. Seizures accompanied by fever (febrile) are common in early childhood. Most forms of epilepsy and febrile seizures have an inherited component. Progress in finding genes for common forms of epilepsy has been slow, probably because they are due to the interaction of a number of genes. Four genes for rare epilepsies with single gene inheritance have been identified. These genes code for ....Epilepsy is the name of a group of disorders where seizures occur. 5% of people will have at least one seizure. Seizures accompanied by fever (febrile) are common in early childhood. Most forms of epilepsy and febrile seizures have an inherited component. Progress in finding genes for common forms of epilepsy has been slow, probably because they are due to the interaction of a number of genes. Four genes for rare epilepsies with single gene inheritance have been identified. These genes code for subunits of ion channels in cells. We study families where many individuals have seizures and carefully diagnose the seizures types. This work has resulted in the description of 5 new inherited epilepsies and led to discovery of 3 of the 4 known genes. The most important new inherited epilepsy is Generalized Epilepsy with Febrile Seizures Plus (GEFS+). GEFS+ accounts for many children with febrile seizures restricted to early childhood, or where seizures continue into mid-childhood. GEFS+ families may contain an individual with severe generalized epilepsy with intellectual disability. In a Tasmanian family with GEFS+, we found a gene defect in the sodium channel of nerve cells in the brain. We plan to study more families with GEFS+. We believe that specific severe childhood epilepsies may occur in families with GEFS+. If so, then the underlying cause of these serious disorders may be gene defects of GEFS+. Finding such genes will help to understand the basis of seizures and ultimately lead to targeted therapies. The second major focus of our work on GEFS+ is to use family studies to understand how different types of seizures are inherited, and to gain insights into the gene interactions underlying common epilepsies. We plan to study isolated cases of GEFS+ for the gene defects found in families. This strategy will reveal whether the same genes are important in the genetics of the common epilepsies.Read moreRead less
Impact Of An Infant Sleep Intervention On Infant Sleep And Maternal Wellbeing: A Cluster Controlled Trial
Funder
National Health and Medical Research Council
Funding Amount
$205,500.00
Summary
Infant sleep problems and postnatal depression are common in the Australian community. Over a third of Australians report a problem with their infant's sleep in the second six months of life whilst 10-15% of Australian women will experience an episode of depression in the first year after their child is born. Both infant sleep problems and postnatal depression have been associated with serious outcomes including child abuse, child behaviour problems, maternal physical and emotional problems, fam ....Infant sleep problems and postnatal depression are common in the Australian community. Over a third of Australians report a problem with their infant's sleep in the second six months of life whilst 10-15% of Australian women will experience an episode of depression in the first year after their child is born. Both infant sleep problems and postnatal depression have been associated with serious outcomes including child abuse, child behaviour problems, maternal physical and emotional problems, family stress and family breakdown. This study builds on previous work conducted by researchers at the Centre for Community Child Health, Royal Children's Hospital, Melbourne. In this work, a brief behavioural intervention significantly decreased infant sleep problems and symptoms of maternal depression, particularly for depressed mothers. The intervention consisted of controlled crying and removal of sleep associations such as a dummy which the infant had become dependent upon to fall asleep. Mothers who received the intervention reported 20% fewer sleep problems and a 45% reduction in depression symptoms compared with mothers who did not receive the intervention. The interention also improved maternal sleep quality and quantity and reduced the need for professional sleep services. It was acceptable to mothers, of low cost and was minimally disruptive to families - in contrast to many current strategies directed primarily at postnatal depression. This trial aims to determine whther a similar intervention delivered by Victorian Maternal and Child health nurses within their usual practice settings can replicate these important benefits.Read moreRead less
A Longitudinal Study Of Psychopathology In People With Intellectual Disability
Funder
National Health and Medical Research Council
Funding Amount
$999,803.00
Summary
This project will further develop the research opportunities of an internationally unique 15 year follow up study of the mental health of young Australians with ID. We have shown that this group has 2-3 times the risk of suffering serious emotional and behavioural problems that are an added heavy burden on the individual, their family and carers and the community. These problems often are not recognised but are as common as schizophrenia in the community. The study will continue to use a combina ....This project will further develop the research opportunities of an internationally unique 15 year follow up study of the mental health of young Australians with ID. We have shown that this group has 2-3 times the risk of suffering serious emotional and behavioural problems that are an added heavy burden on the individual, their family and carers and the community. These problems often are not recognised but are as common as schizophrenia in the community. The study will continue to use a combination of questionnaire survey and in depth interviews of the young adults and their families or carers to track the course of their mental health. The study commenced in 1990 with nearly 1000 young people with ID aged 4-18 years and their progress has been reviewed every 2-3 years in over 75% of the original group. During the next 5 years we plan to follow their mental health during the critical stage of young adult life. During this time there is the greatest risk of mental illnesses such as depression and schizophrenia and the stresses of adjusting to new daily occupations, independent living or residential care and social contact away from the family. We will be able to study the specific emotional and behavioural problems faced by young adults with the main known causes of ID such as Down, Fragile X, Prader Willi and William Syndromes, as well as those who have autism. The great benefit of a long term follow up study is that it allows us to study the links between earlier family environmental, psychological and biological factors and subsequent mental health problems. We can also demonstrate the impact that mental illness in a young person with ID has on the family and parental mental health. The findings have implications for better diagnosis, improved care and management, early intervention and prevention of these common severe and under recognized mental health problems in this disadvantaged group of young Australians and their families and carers.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.