Implementation Of A New, Inexpensive And High-throughput Matrix Assisted Laser Desorption / Ionization _ Time Of Flight Mass Spectrometry Test For Superior Detection Of Fragile X Syndrome In Targeted Diagnostics And Newborn Population Screening.
Funder
National Health and Medical Research Council
Funding Amount
$254,175.00
Summary
Background: The Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability. There are now a number of treatments for FXS. However, often this disorder is not clearly recognized. We have developed a novel FXS test that could resolve this issue. Our objective is to develop a commercial package that describes suitability of our test for diagnostic use. If successful this could potentially leading to improvement in the prognosis for FXS children through early treatment int ....Background: The Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability. There are now a number of treatments for FXS. However, often this disorder is not clearly recognized. We have developed a novel FXS test that could resolve this issue. Our objective is to develop a commercial package that describes suitability of our test for diagnostic use. If successful this could potentially leading to improvement in the prognosis for FXS children through early treatment intervention.Read moreRead less
Citizen engagement: Listening to citizens' views about Australia's health system and prevention. This project will yield new and important perspectives from citizens on preventive health and health promotion, which can be used to develop better targeted and more effective prevention and promotion policies and strategies. Citizens views will be investigated in relation to vexed issues such as: new approaches to financing and program delivery, reorienting the health insurance sector, reorienting ....Citizen engagement: Listening to citizens' views about Australia's health system and prevention. This project will yield new and important perspectives from citizens on preventive health and health promotion, which can be used to develop better targeted and more effective prevention and promotion policies and strategies. Citizens views will be investigated in relation to vexed issues such as: new approaches to financing and program delivery, reorienting the health insurance sector, reorienting the health system to focus more on prevention and health promotion, improving current approaches of consumer participation in prevention and chronic disease management, tackling broader issues in public policy trade-offs between health and non-health, diversifying workforce roles and involving health professionals in prevention and promotion.Read moreRead less
A prospective investigation of self-injury, suicidal ideation and psychological distress in Australian secondary school students. Suicide prevention has been a national priority for the past 10 years. Self-injury is a predictor of suicide, results in considerable distress for family and friends and is associated with significant health care expenditure. In addition the known correlates of self-injury, such as depression and substance use, also pose significant burden to society and are themselve ....A prospective investigation of self-injury, suicidal ideation and psychological distress in Australian secondary school students. Suicide prevention has been a national priority for the past 10 years. Self-injury is a predictor of suicide, results in considerable distress for family and friends and is associated with significant health care expenditure. In addition the known correlates of self-injury, such as depression and substance use, also pose significant burden to society and are themselves predictors of suicide. Understanding the nature and extent of self-injury in Australian adolescents, and the causal relationships between self-injury, suicidal ideation and psychological distress, will improve the care given to those who self-injure, improve their well-being, decrease their chances of further self-injury, and decrease the chance they will die by suicide.Read moreRead less
From Suspician to Intervention : Improving responsiveness to abuse of the elderly in acute and sub-acute health care. Early identification of risk and an integrated multidisciplinary response across the health service would be effective in responding to the multiple and complex behavioural and social issues which contribute to aged abuse as it presents in emergency, acute and sub-acute care, but are currently often ignored in health services and the literature. We propose that effective use of ....From Suspician to Intervention : Improving responsiveness to abuse of the elderly in acute and sub-acute health care. Early identification of risk and an integrated multidisciplinary response across the health service would be effective in responding to the multiple and complex behavioural and social issues which contribute to aged abuse as it presents in emergency, acute and sub-acute care, but are currently often ignored in health services and the literature. We propose that effective use of this "window of opportunity in health care" could extend the level of community response to this vulnerable group of people. Read moreRead less
Risks And Benefits Of Breast Cancer Screening: BreastScreen WA Cohort Study Of Overdiagnosis And Breast Cancer Mortality
Funder
National Health and Medical Research Council
Funding Amount
$201,524.00
Summary
Overdiagnosis is the major downside of screening for breast cancer. This occurs when screening detects cancers that would not have caused symptoms in the woman's lifetime. This study aims to quantify the amount of overdiagnosis that occurs in the Australian breast cancer screening program (BreastScreen)
Massively Parallel Sequencing And PCR Optimised For DNA-based Diagnostics And Discovery
Funder
National Health and Medical Research Council
Funding Amount
$201,664.00
Summary
The next generation of medical diagnostics and discovery in disease research will involve the marriage of PCR, a tool used to amplify large amounts of DNA from small starting quantities, and �next generation� sequencing, a way to sequence lots and lots of DNA on a single instrument run. This study aims to describe methods which allow scientists to screen hundreds of disease genes in hundreds of people simultaneously with high accuracy and high efficiency.
Characterization Of A Novel Epigenetic Boundary And Long Range Epigenetic Modifications Specific To FMR1 Expansion Carriers With Behavioural And Cognitive Disorders - Implications For Earlier Diagnosis And Treatment.
Funder
National Health and Medical Research Council
Funding Amount
$670,836.00
Summary
Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability and autism and is caused by a faulty switch in the gene FMR1. We have discovered new DNA regions important in FXS. The project aims to explain how these new regions regulate the FMR1 gene. This is essential for the discovery and validation of new avenues for earlier diagnosis, treatments and therapies for children and adults with FMR1 disorders and also for informing reproductive decisions.
Can and should we link data at a national level? Vaccine safety surveillance: A case study. This project provides many benefits for the community, exploring the legal and ethical issues around consent for data linkage, convening Citizens' Juries to weigh the evidence and make recommendations. It addresses National Research Priorities: Promoting and Maintaining Good Health and Safeguarding Australia as well as National Collaborative Research Infrastructure Strategy priorities. It uses vaccine sa ....Can and should we link data at a national level? Vaccine safety surveillance: A case study. This project provides many benefits for the community, exploring the legal and ethical issues around consent for data linkage, convening Citizens' Juries to weigh the evidence and make recommendations. It addresses National Research Priorities: Promoting and Maintaining Good Health and Safeguarding Australia as well as National Collaborative Research Infrastructure Strategy priorities. It uses vaccine safety surveillance as a case study to evaluate the effectiveness of data linkage (through linking Commonwealth immunisation data to state hospital data) and the methodologies and lessons learnt from cross jurisdictional data linkage can be transferred to other areas. Read moreRead less
Global Corporate Challenge Evaluation: The evaluation of a low-cost, low-impact physical-activity workplace intervention. Societal increases in obesity and physical inactivity have led to consideration of workplace interventions as a potential for improving health. However, long-term evaluations of such interventions are rare. Here we will evaluate the Global Corporate Challenge (GCC), which engages employees to participate in a four month pedometer-based program aimed at increasing their physic ....Global Corporate Challenge Evaluation: The evaluation of a low-cost, low-impact physical-activity workplace intervention. Societal increases in obesity and physical inactivity have led to consideration of workplace interventions as a potential for improving health. However, long-term evaluations of such interventions are rare. Here we will evaluate the Global Corporate Challenge (GCC), which engages employees to participate in a four month pedometer-based program aimed at increasing their physical activity levels. We will follow 1000 participants for two years to determine the short and long-term health benefits of the program and to provide insight into factors that may improve the success of such programs. Such findings are essential for appropriate government and industry policy decisions in this area of chronic disease prevention. Read moreRead less
Planning female and male vaccination and cervical screening strategies to achieve optimal prevention of HPV-related disease. The findings from this research will inform the development of public health policy on the most cost-effective utilisation of resources for preventing cervical, anogenital and head/neck cancers, and genital warts, in women and men, due to human papillomavirus (HPV). We will evaluate strategies for using emerging screening and vaccine technologies to prevent HPV-related dis ....Planning female and male vaccination and cervical screening strategies to achieve optimal prevention of HPV-related disease. The findings from this research will inform the development of public health policy on the most cost-effective utilisation of resources for preventing cervical, anogenital and head/neck cancers, and genital warts, in women and men, due to human papillomavirus (HPV). We will evaluate strategies for using emerging screening and vaccine technologies to prevent HPV-related disease, and assess potential adverse outcomes of vaccination. Men are currently not covered by routine vaccination or screening programs; this research will assess the benefit to men of vaccinating women only, and will consider the impact of vaccination and other interventions targeted towards men.Read moreRead less