Non-HFE Haemochromatosis In Australia: Natural History And Molecular Characterisation
Funder
National Health and Medical Research Council
Funding Amount
$179,948.00
Summary
Hereditary haemochromatosis (HH) is a disorder characterised by excessive iron absorption and build up of iron in body organs such as the liver. The excess iron can be toxic and cause disease. Most HH is caused by mutations in the HFE gene. Other forms are caused by mutations in other genes. This project will characterise a new form of HH that is unrelated to any of the previously known genes. The project aims to find the gene for this new condition by genetic analysis in a large family.
Molecular Epidemiology Of Melioidosis In Australia
Funder
National Health and Medical Research Council
Funding Amount
$357,875.00
Summary
Melioidosis is an important infection in northern Australia. It is a common cause of fatal pneumonia and blood infection in the region. Two outbreaks of melioidosis with fatalities occurring in remote Aboriginal communities have been linked to contamination of the community water supply with the melioidosis bacteria, Burkholderia pseudomallei. In addition, a rare form of melioidosis affecting the brain and spinal cord has resulted in a number of deaths in healthy Aboriginal people and also a num ....Melioidosis is an important infection in northern Australia. It is a common cause of fatal pneumonia and blood infection in the region. Two outbreaks of melioidosis with fatalities occurring in remote Aboriginal communities have been linked to contamination of the community water supply with the melioidosis bacteria, Burkholderia pseudomallei. In addition, a rare form of melioidosis affecting the brain and spinal cord has resulted in a number of deaths in healthy Aboriginal people and also a number left living in remote communities with severe disabilities such as complete paralysis of both legs. Melioidosis has also been identified in two outbreaks occurring over many years in separate locations in southern Australia. It is thought that it may have been introduced to these regions by imported animals, eg via cattle drives, and human fatalities have occurred after local flooding in these temperate locations. This project is built on the ongoing melioidosis collaboration between researchers in Western Australia, the Northern Territory and Queensland. The aim is to use new DNA fingerprinting methods developed specifically for the melioidosis bacteria to understand better why melioidosis can be such a severe disease and how it spreads from the environment to humans and animals and also how it has possibly spread within Australia and overseas. Better recognition and treatment of melioidosis has resulted in a halving of the death rate from this disease in northern Australia (mortality decreased from 40%-18%). This study aims to give us a better understanding of how this soil and water bacteria interacts with humans to cause such severe disease and will hopefully result in new primary preventative measures to complement the improved diagnosis and treatment.Read moreRead less
EXAMINING THE RELATIONSHIP BETWEEN MATRIPTASE-2 AND HEMOJUVELIN, TWO ESSENTIAL REGULATORS OF IRON HOMEOSTASIS
Funder
National Health and Medical Research Council
Funding Amount
$533,541.00
Summary
The control of iron levels is important in health and well being. Too little can lead to iron deficiency and anaemia, conversly too much can lead to haemochromatosis and tissue damage. We will examine the role of two proteins, matriptase-2 and hemojuvelin that when mutated cause iron deficiency or iron overload respectively. We will study how these proteins interact and work in opposite directions to control iron levels. The results will help to develop new therapeutics for iron disorders.
20 Year Study Of Skin Cancer In A Queensland Community
Funder
National Health and Medical Research Council
Funding Amount
$396,415.00
Summary
Skin cancers are by far the commonest cancers diagnosed in Australia. Even though it is known that sun exposure in excess causes skin cancers there are complexities about the causes, especially of basal cell carcinoma (BCC) -the major type of skin cancer- that are still not understood. Relative intensity of sun exposure and perhaps its timing with respect to age in life may well be critical factors. We aim to study these causes in very great detail by collating information that has been gathered ....Skin cancers are by far the commonest cancers diagnosed in Australia. Even though it is known that sun exposure in excess causes skin cancers there are complexities about the causes, especially of basal cell carcinoma (BCC) -the major type of skin cancer- that are still not understood. Relative intensity of sun exposure and perhaps its timing with respect to age in life may well be critical factors. We aim to study these causes in very great detail by collating information that has been gathered over a 20 year period in a community-based skin cancer study in Nambour, Qld as well as performing some laboratory tests on skin cancer tissue collected from participants. This 3-year project will enable the full realisation of the potential of this esource-20 years in the making- with its wealth of information for answering questions about skin cancer decelopment and preventability. It should finally provide us with a clearer rationale for 'prevention of skin cancer' than is currently available. In addition we shall assess the costs of treatment of skin cancer in general and for the individual, and how much preventive practices for skin cancer might save the health budget, by using the releavnt data collected from this community sample.Read moreRead less
Helping Women Meet Their Activity Goals: Randomised Trial Of A Personalised Program Delivered By Mobile Telephone
Funder
National Health and Medical Research Council
Funding Amount
$493,346.00
Summary
Cardiovascular disease is the leading cause of death in Australian women, but is less likely among women who are active. Because women are less active than men, and women with young children are the least active of all, we developed a program to increase postnatal women's physical activity. Women in the pilot study reported high program satisfaction and more physical activity, because the program focused on them (not their kids) and helped them prioritise time for physical activity.
Understanding Changes In The Mammalian Prenylome Induced By Statins And Prenyltransferase Inhibitors
Funder
National Health and Medical Research Council
Funding Amount
$566,308.00
Summary
Prenylation, the covalent attachment of isoprenoid lipids to proteins, is widespread in mammalian cells. Essential for a protein's normal function, it contributes to the progression of cancer and inflammation. We have developed a novel technology to identify all prenylated proteins in the cell. Aided by this method, we will analyse the effect of statins and anti-cancer drugs on protein prenylation. This will provide guidance in identifying a more effective clinical use for them.
Hepatic Fibrogenesis In Paediatric Cholestatic Liver Disease.
Funder
National Health and Medical Research Council
Funding Amount
$254,250.00
Summary
Liver disease in children causes a significant impact on lifespan and quality of life. The commonest causes of liver disease in children are cholestatic, or diseases related to obstruction of bile flow out of the liver. In ways we are only beginning to understand, obstruction of bile flow stimulates liver scar formation which, if untreated, leads to replacement of normal liver tissue and ultimately to failure of the liver. In infants, the most common and serious cholestatic liver disease is bili ....Liver disease in children causes a significant impact on lifespan and quality of life. The commonest causes of liver disease in children are cholestatic, or diseases related to obstruction of bile flow out of the liver. In ways we are only beginning to understand, obstruction of bile flow stimulates liver scar formation which, if untreated, leads to replacement of normal liver tissue and ultimately to failure of the liver. In infants, the most common and serious cholestatic liver disease is biliary atresia. It develops at, or shortly after birth with progressive destruction of the bile ducts, responsible for transporting bile out of the liver. Without early diagnosis and surgery these infants develop progressive liver scarring leading to liver failure and death or liver transplantation within 1-2 years. It is the commonest reason for liver transplantation in children (55-60%) in the Western world. Even with successful surgery, most, if not all patients will come to liver transplantation over the subsequent 25 years because of ongoing, but slower, scar formation. In older children, diseases like cystic fibrosis cause bile duct blockages leading to progressive liver scarring that is slower and unpredictable, contributing to ill health in up to 20% of patients and death from end stage liver disease or liver transplantation in 5%. Using liver tissue from children with these two disorders we have been able to identify the key cells that control the liver scar process, the Hepatic Stellate Cell. We now need to investigate the role of bile constituents on the scar-forming process in these two diseases. We will utilise a well characterised animal model to investigate the influence of bile constituents on cells isolated from this model and apply these findings back to patient samples to determine their role in paediatric cholestatic liver disease. This will help us to better understand the disease process and importantly, develop more effective and earlier treatment.Read moreRead less