Breast cancer affects approximately one in ten women and is therefore a major health problem. In order to improve the diagnosis, treatment and prognosis of this disease, it is critical to understand the molecular defects which contribute to disease initiation and progression. Over the last twenty years significant progress has been made in this regard, however there still remain a considerable number of unanswered questions. For example, it is not yet clear which are the most critical molecules ....Breast cancer affects approximately one in ten women and is therefore a major health problem. In order to improve the diagnosis, treatment and prognosis of this disease, it is critical to understand the molecular defects which contribute to disease initiation and progression. Over the last twenty years significant progress has been made in this regard, however there still remain a considerable number of unanswered questions. For example, it is not yet clear which are the most critical molecules contributing to this disease and thus which are the best targets for therapeutic intervention. In this proposal, we aim to study two molecules. The first is called BRCA1 and is particularly important in inherited susceptibility to breast cancer. The second is called PML and, although originally described as a leukaemia-associated gene, it has since been implicated in a number of cancers. Specifically, we aim to investigate the possibility that PML and BRCA1 work together to protect against cancer and that they do this by regulating the ends of chromosomes, that is, the telomeres.Read moreRead less
A Genome-wide Association Study Of Endometrial Cancer
Funder
National Health and Medical Research Council
Funding Amount
$1,066,328.00
Summary
Endometrial cancer (uterine-womb cancer) is the most common invasive gynaecological cancer in Australia. Each year more than 1400 women are affected by the condition. The non-biased approach of our large study will identify genes that increase risk of this cancer, to provide information for future targeted therapies to prevent progression, and large-scale studies investigating how these genes interact with environmental factors such as hormone replacement therapy and obesity to cause disease.
Cancer is the result of multiple genetic errors, involving both the overactivity of growth-stimulating oncogenes and the loss of tumour suppressor genes. The identification of the genes in both of these categories is important if we are to understand and intervene in the disease. Tumour suppressors are the more difficult to identify, precisely because they are lost in cancer cells. Normally the task is extremely time consuming, tedious and expensive. We have developed a system which will provide ....Cancer is the result of multiple genetic errors, involving both the overactivity of growth-stimulating oncogenes and the loss of tumour suppressor genes. The identification of the genes in both of these categories is important if we are to understand and intervene in the disease. Tumour suppressors are the more difficult to identify, precisely because they are lost in cancer cells. Normally the task is extremely time consuming, tedious and expensive. We have developed a system which will provide a short-cut to the cloning of one such gene. We have started with the mouse version, which is lost in leukemic cells. We have mapped the gene to within a very small chromosomal region, and we have identified a biological effect which correlates with loss of the gene. Our next step is to combine these two approaches to clone the gene. Because these genes are always highly conserved between species, we will be able to quickly clone the corresponding human gene, the loss of which is very likely to be important in cancer of various types.Read moreRead less
I am a clinician-scientist and endocrinologist most interested in clinical problems associated with bone, in particular the highly heritable disease of osteoporosis. I hope by studying genetic determinants of bone mass to determine the key genes involved, with the long term aim of informing the development of novel therapies for this common, painful and disabling disease.
A Genome-wide Association Study In 2000 Glaucoma Cases With Matched Controls Using Equimoloar DNA Pools
Funder
National Health and Medical Research Council
Funding Amount
$610,267.00
Summary
Glaucoma is a common cause of loss of vision worldwide but we are unable to predict which people are at high risk of blindness. We aim to discover the genetic risk factors for glaucoma. We will use cutting edge genetic technology to assess the whole genome in thousands of patients with glaucoma. We hope to identify important new glaucoma genes, which could lead to the development of diagnostic tests and treatments which will provide the most cost-efficient ways to prevent glaucoma blindness.
Genetic Analysis Of Type 2 Diabetes In Indigenous Australian Pedigrees.
Funder
National Health and Medical Research Council
Funding Amount
$502,500.00
Summary
Type 2 diabetes is a major world health problem. With 300 million people expected to be affected worldwide by 2025 it is a major economic burden. It is a leading cause of kidney failure, blindness, heart attacks, strokes and amputations. Over 7% of the general Australian population have type 2 diabetes, whilst up to 30% of the population in some indigenous communities are affected by this condition. Very few Australians have not been touched in some way by the shadow of diabetes. The precise cau ....Type 2 diabetes is a major world health problem. With 300 million people expected to be affected worldwide by 2025 it is a major economic burden. It is a leading cause of kidney failure, blindness, heart attacks, strokes and amputations. Over 7% of the general Australian population have type 2 diabetes, whilst up to 30% of the population in some indigenous communities are affected by this condition. Very few Australians have not been touched in some way by the shadow of diabetes. The precise cause of diabetes is unknown, however we do know that it tends to run in families, indicating that inherited tendency is important. This research program will find genes which cause diabetes by searching for them in indigenous Australian pedigrees in which many of the family members are affected by diabetes. Finding the genes which cause diabetes will have significant impact in at least three major ways. Firstly, it will increase our understanding of the disease process. Secondly, it will be possible to develop tests to identify people at risk of diabetes at a very early stage so that therapy can be introduced and complications averted. Thirdly, it will be possible to develop new and more effective approaches for the prevention and treatment of type 2 diabetes.Read moreRead less
Cystic fibrosis is a life-threatening disease of the lungs and digestive system. It is the most common single gene disorder of Caucasian populations and most of the moratility is caused by the presence of chronic lung infections, most notably with the bacterial pathogen, Pseudomonas aeruginosa. Despite the cystic fibrosis gene being discovered over 10 years ago we still have no clear indication as to how defects in the CF gene cause susceptibility to bacterial infections, and result in the infla ....Cystic fibrosis is a life-threatening disease of the lungs and digestive system. It is the most common single gene disorder of Caucasian populations and most of the moratility is caused by the presence of chronic lung infections, most notably with the bacterial pathogen, Pseudomonas aeruginosa. Despite the cystic fibrosis gene being discovered over 10 years ago we still have no clear indication as to how defects in the CF gene cause susceptibility to bacterial infections, and result in the inflammation of the lung. Our studies address this issue by examining thechanges of gene expression in response to infection with Pseudomonas aeruginosa and therefore provide us with routes to therapies which are targetted against CF gene mediated inflammation.Read moreRead less