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.
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.
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
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