RARE-Bestpractices: Best Practices For Management Of Rare Diseases
Funder
National Health and Medical Research Council
Funding Amount
$640,231.00
Summary
Although by definition rare, over 8000 rare diseases affect approximately 1.2 million Australians. Patient care has suffered from fragmented approaches and lack of information available to health professionals. This project brings together major experts on rare diseases to improve the translation of scientific progress into tangible benefits for patients. The ultimate impact of this work will be the significant improvement of health outcomes and quality of life for rare disease patients and redu ....Although by definition rare, over 8000 rare diseases affect approximately 1.2 million Australians. Patient care has suffered from fragmented approaches and lack of information available to health professionals. This project brings together major experts on rare diseases to improve the translation of scientific progress into tangible benefits for patients. The ultimate impact of this work will be the significant improvement of health outcomes and quality of life for rare disease patients and reducing inequality in care.Read moreRead less
This proposal uses the zebra fish system, which it is uniquely suited to investigate the regulation of disease genes. In all of these diseases preliminary work has already been performed and screening assays have been developed in a previous project (ZF-MODELS). In addition, the project will investigate genetic abnormalities of the eye and visual processing, genetic pathways underlying tissue regeneration and repair, and homologs of human genes related to diabetes and obesity, as well as infecti ....This proposal uses the zebra fish system, which it is uniquely suited to investigate the regulation of disease genes. In all of these diseases preliminary work has already been performed and screening assays have been developed in a previous project (ZF-MODELS). In addition, the project will investigate genetic abnormalities of the eye and visual processing, genetic pathways underlying tissue regeneration and repair, and homologs of human genes related to diabetes and obesity, as well as infectious disease and cancer. The Australian component will perform a systematic characterisation of enhancer elements of potential disease genes. This characterisation will build on the concept of genomic regulatory blocks (GRBs) which contain highly conserved non-coding elements (HCNEs) acting as long-range enhancers of developmental genes (recently discovered by T. Becker in the ZF-MODELS project).Read moreRead less
Long-term Outcome Of Individuals Who Had A First-episode Psychosis
Funder
National Health and Medical Research Council
Funding Amount
$1,344,905.00
Summary
The long-term illness course and outcomes of patients treated for first episode psychosis are poorly understood especially in terms of important domains such as social and vocational functioning, physical health, and quality of life. This treated cohort study of a sample of 786 patients, 15 years after their first episode of psychosis will be one of the longest and largest conducted to date. Results of the study will inform clinical practice and policy development.
The Role Of The Neuronal Epigenome In Natural Brain Ageing And The Progression Of Alzheimer’s Disease
Funder
National Health and Medical Research Council
Funding Amount
$584,644.00
Summary
Most cases of Alzheimer's disease are sporadic or late onset, with only ~5% of cases being familial, suggesting a potential role for epigenetics. This project aims to profile the human brain epigenome throughout normal ageing and in Alzheimer's disease so we can determine how disturbed epigenetic states may affect brain function. This research will provide new insights into the role of the epigenome in Alzheimer's disease, enabling crucial advances in understanding its origins.
Eating Disorder Prevention In Young-adult Women At Risk: A Randomised Controlled Trial Of Two Online Programs
Funder
National Health and Medical Research Council
Funding Amount
$264,434.00
Summary
Disordered eating is experienced by 23% of young Australian women leading to a range of serious consequences. An online nation-wide study will evaluate the effectiveness of two promising prevention programs with women at high-risk of developing an eating disorder. This research will identify which program is of most benefit and inform whether that program can reduce the need for participants to access mental and physical health services.
Sleep-wake Disturbances And Cardio-metabolic Dysfunction In At Risk Dementia: A Novel Pathway In Neurocognitive Decline’
Funder
National Health and Medical Research Council
Funding Amount
$558,305.00
Summary
Age-related sleep and circadian disturbance and cardio-metabolic dysfunction are associated with an increased risk of dementia. This research aims to delineate the pathway in which sleep and circadian disturbances and cardio-metabolic dysfunction promote cognitive decline during the ‘at risk’ dementia phase. This will improve our understanding of key processes in cognitive ageing ultimately leading to the development of targeted intervention programs in the quest to delay the onset of dementia.
Optimising Speech Assessment And Treatment In Frontotemporal Dementia
Funder
National Health and Medical Research Council
Funding Amount
$722,210.00
Summary
Frontotemporal dementia has a devastating impact on our ability to speak and understand others. This proposal aims to improve our understanding of how to best assess, diagnose and treat these debilitating impairments. By bringing together an international consortium of clinics, these findings will lead to significant advances in our understanding of disease progression and patient care.
Targeting G-quadruplex DNA As A Novel Therapeutic Strategy For Alzheimer’s And Frontotemporal Dementia
Funder
National Health and Medical Research Council
Funding Amount
$720,144.00
Summary
Dementia is the third leading cause of death in Australia and there is an urgent need to identify new ways of treating diseases that cause dementia. Our research is focused on targeting an unusual DNA structure in Alzheimer’s and Frontotemporal dementia (FTD). We will use a precision-targeted technology to better control formation of this DNA structure in disease-causing genes, allowing us to switch off the gene and hence stop disease progression for Alzheimer’s and FTD.
Neurodegenerative and neuromuscular diseases are difficult to diagnose and even more difficult to treat. They affect the elderly and children, usually at very early age, and often lead to premature death or chronic debilitation – they are usually incurable and 30-80% of patients remain undiagnosed. This program will identify new disease genes, establish routine diagnostics using cutting edge tools, identify novel and validate known biomarkers and develop novel treatment strategies.
PSYSCAN— Translating Neuroimaging Findings From Research Into Clinical Practice
Funder
National Health and Medical Research Council
Funding Amount
$376,285.00
Summary
Our ability to predict the onset and outcome of schizophrenia and other psychotic disorders remains limited. This restricts the implementation of effective preventative and early interventions. This project will rectify this by developing a tool of significant clinical utility. The project has 2 aims: 1. To develop and validate a neuroimaging-based tool for use in early psychosis to assist with early diagnosis, outcome, and disease progression. 2. To apply the tool in clinical practice.