Exploring The Function Of Breast Cancer-Associated Variants In Long Non-Coding RNAs
Funder
National Health and Medical Research Council
Funding Amount
$501,585.00
Summary
Recent studies have identified regions within the human genome in which DNA sequence variations are associated with an increased risk of breast cancer. Several of these regions do not contain any known protein coding genes, suggesting that non-protein coding genes could be responsible for the associated risk. The aim of this proposal is to identify and characterise these non-coding genes. Understanding how sequences variations in these novel genes contribute to breast cancer will provide novel a ....Recent studies have identified regions within the human genome in which DNA sequence variations are associated with an increased risk of breast cancer. Several of these regions do not contain any known protein coding genes, suggesting that non-protein coding genes could be responsible for the associated risk. The aim of this proposal is to identify and characterise these non-coding genes. Understanding how sequences variations in these novel genes contribute to breast cancer will provide novel avenues for therapy.Read moreRead less
Genetic And Epigenetic Biomarkers In High Risk Colorectal Cancer: Predicting Risk Of Recurrence
Funder
National Health and Medical Research Council
Funding Amount
$64,631.00
Summary
The main aim of this project is to define the prognostic and predictive significance of specific genetic events in patients with high risk (stage III) colorectal cancer. We attempt to explore the differences between primary tumours from patients with and without recurrence at three years. Data from the project will then be used to define a limited set of biomarkers which will aid in clinical decisions regarding the need for adjuvant chemotherapy after surgery for high risk colorectal cancer.
Identification Of Schizophrenia Susceptibility Genes: A Collaborative Project With The University Of Indonesia
Funder
National Health and Medical Research Council
Funding Amount
$546,825.00
Summary
Schizophrenia is present in all populations at a similar incidence. The project aims to identify genetic risk factors in three genomic regions previously detected by us in a genome-scan for genetic linkage in 152 Indonesian families. Colleagues at the University of Indonesia will collect an additional sample of 2000 individuals for replication. This sample will be available for research in Australia. Knowledge of risk factors will aid in diagnosis, prevention, and development of novel therapies.
KILLING OF MYCOBACTERIUM TUBERCULOSIS IN MACROPHAGES VIA THE P2X7 RECEPTOR
Funder
National Health and Medical Research Council
Funding Amount
$226,320.00
Summary
Tuberculosis remains an enormous global health problem. Some 32% of the world population are infected, with over 1 million persons dying each year. The risk of an infected individual developing clinical disease ranges from 2-23% for their lifetime. We know that both environmental factors, such as declining socio-economic conditions, and genetic risk factors such as HLA type contribute to the likelihood of an individual developing disease, but current known factors are insufficient to fully accou ....Tuberculosis remains an enormous global health problem. Some 32% of the world population are infected, with over 1 million persons dying each year. The risk of an infected individual developing clinical disease ranges from 2-23% for their lifetime. We know that both environmental factors, such as declining socio-economic conditions, and genetic risk factors such as HLA type contribute to the likelihood of an individual developing disease, but current known factors are insufficient to fully account for the risk attributed to genetics. The aim of this project is to investigate another potential risk factor involved in the development of tuberculosis, that of P2X7 receptor function. A natural compound, ATP, when added to macrophages is able to kill tuberculosis organisms residing within the macrophage. This process occurs when ATP activates the P2X7 receptor. We have recently identified a mutation in the P2X7 receptor, which causes a loss of receptor function. Individuals who have this mutation are unable to respond to ATP and hence may be unable to kill tuberculosis. Our studies will determine if the mutation we have identified in the P2X7 receptor prevents or inhibits ATP mediated killing of mycobacteria. Furthermore we will determine the frequency of this mutation in TB patients and the general population to determine if this mutation in the P2X7 receptor is a risk factor for the development of tuberculosis disease.Read moreRead less
Relating Genetic, Biological, And Behavioural Markers Of Early Conduct Problems In Young Females
Funder
National Health and Medical Research Council
Funding Amount
$403,639.00
Summary
Child CPs are the first identifable sign of ongoing mental health problems. Most research is done with males, but they are also the most common early markers in females. We are in the unique position to conduct the first test of the relationships between specific genetic risk, neurobiological markers and psychological functioning in females. Findings will inform models of genertic vulnerability, the relationship of genetic risk to basic information processing styles in at-risk children.
I am a vascular surgeon. My research is centred on the following problems relevant to my patients: 1. The management of aortic aneurysm. 2. The management of occlusive atheroma, particularly unstable atheroma, aortic calcification, intermittent claudicati
The Role Of Collagenase (MMP-1) In The Pathogenesis Of Human Pterygia
Funder
National Health and Medical Research Council
Funding Amount
$246,100.00
Summary
Pterygia are a common, recurrent, disfiguring, and sight-threatening disease of the human eye. This disease is extremely common world wide and particularly in the Australian aboriginal population. The triggers for this disease are unknown. Prolonged exposure to environmental elements, such as ultra violet (UV) light, is proposed to be the main initiating factor. Our previous studies have shown the important role played by a family of proteolytic enzymes (metalloproteinases) in the progressive an ....Pterygia are a common, recurrent, disfiguring, and sight-threatening disease of the human eye. This disease is extremely common world wide and particularly in the Australian aboriginal population. The triggers for this disease are unknown. Prolonged exposure to environmental elements, such as ultra violet (UV) light, is proposed to be the main initiating factor. Our previous studies have shown the important role played by a family of proteolytic enzymes (metalloproteinases) in the progressive and invasive nature of pterygia. We have significant preliminary evidence that a large percentage of patients with pterygia carry a mutation in one of these enzymes (collagenase-1). This is the most abundant enzyme expressed in pterygium tissue and probably plays a major role in invasion and progression in this disease. UV light activates cells in pterygia to induce expression of collagenase-1. This study will determine whether or not people with a genetic predisposition are more likely to develop pterygia and whether or not environmental factors, such as UV light, trigger progression of disease. If this is the case, then subjects with this genetic predisposition would be at increased risk for the development of pterygia (and their complications) and could be advised to take preventative measures to minimize the risk of developing this disease.Read moreRead less
MC1R Polymorphisms Associated With Skin Cancer Risk Phenotypes
Funder
National Health and Medical Research Council
Funding Amount
$519,715.00
Summary
Sunsmart campaigns are a unifying element in the lives of many Australians who wish to ensure protection against the damaging effects of UV rays in sunlight. Although it is evident that lighter skin colours are more susceptible to sun damage, the relationship between sun exposure, skin type and melanoma formation is less clear. It is essential to understand the complex interactions that give rise to melanoma and to identify the genes in individuals that are responsible for this increased risk.