Delineating The Relationship Between Iron And Peroxisomal Disorders: The Role Of The Peroxisomal Enzyme GNPAT In Iron-Overload Disorders
Funder
National Health and Medical Research Council
Funding Amount
$700,767.00
Summary
Hereditary haemochromatosis is one of the most common genetic disorders in humans, affecting 1 in 200 Australians. We have identified a change in a peroxisomal gene which may affect iron levels in humans. The prevalence of this gene change in Australian haemochromatosis patients will be examined followed by a systematic analysis of how this protein controls iron levels in the body. Our goal is to identify and diagnose genetic changes which influence iron loading in haemochromatosis patients.
Molecular Analysis Of The Peroxisome Biogenesis Disorders
Funder
National Health and Medical Research Council
Funding Amount
$185,135.00
Summary
A group of human disorders arise from abnormal metabolic function of peroxisomes, small organelles found in the cells of most tissues. These abnormalities are caused by defects in the processes by which peroxisomes are formed in cells, and now known to be due to mutations in peroxisome biogenesis, or PEX, genes. In this project we will identify and assess PEX gene mutations in Australasian patients with these disorders to assist with future clinical diagnosis. In addition, because the mechanisms ....A group of human disorders arise from abnormal metabolic function of peroxisomes, small organelles found in the cells of most tissues. These abnormalities are caused by defects in the processes by which peroxisomes are formed in cells, and now known to be due to mutations in peroxisome biogenesis, or PEX, genes. In this project we will identify and assess PEX gene mutations in Australasian patients with these disorders to assist with future clinical diagnosis. In addition, because the mechanisms of disease formation, or pathogenesis, are poorly understood, we will develop animal models of the PBDs that may provide more detailed information about these corresponding processes in humans.Read moreRead less
Burden Of Disease: Costing An Effective Package Of Care For Mental Disorders
Funder
National Health and Medical Research Council
Funding Amount
$272,735.00
Summary
The Global Burden of Disease project, a WHO-World Bank-Harvard collaboration, presented an unprecedented picture of global health across the developed and developing world, providing much-needed information for planning health services. Health was measured at the population level, and combined the number of life years lost due to death and disablement to give a total amount of life lost per disorder. One surprise of the project was the importance of mental disorders, accounting for 43% of life y ....The Global Burden of Disease project, a WHO-World Bank-Harvard collaboration, presented an unprecedented picture of global health across the developed and developing world, providing much-needed information for planning health services. Health was measured at the population level, and combined the number of life years lost due to death and disablement to give a total amount of life lost per disorder. One surprise of the project was the importance of mental disorders, accounting for 43% of life years lost due to disability in countries like Australia. Service planning to reduce this burden requires knowledge of cost-effective treatments.This project will trial a method used for combining burden and cost-effectiveness data to design an essential package of services to address the treatment shortfall in mental disorders. This research will assist in our understanding of why burden due to mental disorders persists, and the extent to which current treatment knowledge is able to address this burden within existing budgetary constraints. This will be achieved by: 1) detailing the costs and population outcome of current services in Australia for mental disorders, to determine which disorders are currently adequately treated and which disorders require further intervention, 2) calculating the costs and outcome of best practice interventions from clinical practice guidelines, to understand the extent to which current treatment knowledge can reduce burden due to mental disorders, 3) examining the equity consequences of such a package of ideal interventions, with the understanding that the treatment endpoint is not the same for all disorders. This is a secondary analysis, representing a method for translating existing cost and outcome data for individual treatments into their costs and consequences for health planning at the population level.Read moreRead less
Balance disorders are very common, but particularly in those conditions that involve the brain 'balance centres' are often difficult for doctors to diagnose. When diseases are difficult to diagnose, then recommending helpful treatment is particularly challenging. We will use a group of specialized tests to better understand these balance conditions in order to help patients receive accurate diagnoses and therefore, better treatment.
Balance disorders are very common, but particularly in those conditions that involve the brain 'balance centres' are often difficult for doctors to diagnose. When diseases are difficult to diagnose, then recommending helpful treatment is particularly challenging. We will use a group of specialized tests to better understand these balance conditions in order to help patients receive accurate diagnoses and therefore, better treatment.
Molecular Mediators, Epigenetic Modulators And Therapeutic Targets For Cognitive Disorders
Funder
National Health and Medical Research Council
Funding Amount
$763,845.00
Summary
Brain disorders constitute an enormous, and growing, burden. My research investigates how genes and environment combine to cause disorders of cognition, including dementia, schizophrenia and autism. The research will provide new insights into these disorders, at the level of molecules, cells and behaviour. I will explore how genetic and environmental factors interact, with a focus on mental activity, physical exercise and stress, which affect a range of neurological and psychiatric disorders.