Genetic Investigations For Prodromal Alzheimer’s Disease
Funder
National Health and Medical Research Council
Funding Amount
$719,374.00
Summary
The disease process in Alzheimer’s disease (AD) begins decades before a diagnosis is made. We urgently need to investigate this pre-symptomatic stage to learn how the disease process begins, and allow the development of treatments that work before the brain is irreparably damaged. I will use genetic risk factors for AD to predict who is most at risk of developing AD. I will look for early changes and easily accessible markers, including the use of state of the art brain imaging.
Dengue is a viral infection that is transmitted by mosquitoes in tropical regions of the world, including in northern Australia. For doctors who treat dengue patients, a major unmet need is the ability to predict which patients will develop severe complications and need highly specialized supportive care. This proposal will seek to address this unmet need by examining whether markers of human genetic variation can be used to predict those patients at risk of severe dengue.
A European DNA Bank For Deciphering The Missing Heritability Of Alzheimer's Disease (EADB)
Funder
National Health and Medical Research Council
Funding Amount
$1,556,995.00
Summary
Understanding the genetics of Alzheimer’s disease (AD) is one of the best ways of improving our knowledge of the underlying mechanisms of disease development. There is evidence that genetic factors account for up to 80% of the risk for AD. Recent advances in genetics still explain <50% of this risk. This proposal will help two major Australian studies to partner with a large European consortium in trying to understand the “missing” heritability, using existing and novel genetic data.
Prospective Imaging Study Of Ageing: Genes, Brain & Behaviour
Funder
National Health and Medical Research Council
Funding Amount
$6,465,047.00
Summary
While the burden of dementia in Australia occurs late in life, the underlying brain disease accumulates for decades prior to dementia onset. Disease modifying interventions have the greatest potential to avert later disease burden if introduced during this crucial window, well before the onset of clear cognitive decline. To reduce Australia's future dementia burden, it is thus imperative to identify those Australians at risk of dementia whilst they are still relatively young.
Disturbances Of DNA Regulation In Obesity, And Their Relationships To Metabolic Health
Funder
National Health and Medical Research Council
Funding Amount
$354,074.00
Summary
We have shown there exists significant differences in methylation patterns between Obese patients and healthy controls. In this study we will refine our understanding of the relationship between methylation and obesity. Our study will provide insight into how methylation changes observed in obesity influence downstream metabolic disorders such as diabetes and cardiovascular disease.
Preparing Australia For Genomic Medicine: A Proposal By The Australian Genomics Health Alliance
Funder
National Health and Medical Research Council
Funding Amount
$25,000,000.00
Summary
The sequencing of the human genome brings the possibility of more accurate identification of the underlying basis of many diseases. This technology has moved so rapidly, however, that clinical access has been limited. In this application, a national alliance of clinicians, researchers, health economists and policymakers will evaluate the case for clinical genomics across inherited disease and cancer, determine how best to deliver this to the patient and train a capable workforce.
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.
Discovery Of Novel Neurodegeneration Genes Via Next-generation Sequencing Technologies And High-throughput Cellular Assays
Funder
National Health and Medical Research Council
Funding Amount
$715,144.00
Summary
My research program aims to discover genes that are mutated in dementia, by identifying gene variants present in patients and absent in healthy people, and examining how these variants affect the function of cells. Identifying new dementia genes will reveal the biological processes that lead to brain cell death. Knowledge of these processes is crucial for the development of new treatments for the many people affected worldwide with dementia.