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.
Genome-wide Association Studies Of Biomedical Traits And Endophenotypes For Complex Disease
Funder
National Health and Medical Research Council
Funding Amount
$295,804.00
Summary
The burden of common complex diseases, such as cardiovascular disease is substantial to the health care system. These diseases are caused by genes and environments as well as their interactions. The proposed project will identify genes affecting the susceptibility of individuals to complex diseases. Discovery of such genes will be important for their diagnosis, prevention and treatment and may serve as an important resource for future personalized medicine.
Glaucoma is the second leading cause of blindness in the world affecting approximately 70 million people. Glaucoma can occur at any age but the commonest type occurs in middle to old age. The disease has a genetic basis and can be inherited. As a result we have been studying the genetics of the disease in two large families from Tasmania. We hope to identify the genes involved in disease causation using a number of genetic techniques. Once mutations in a disease gene have been identified from af ....Glaucoma is the second leading cause of blindness in the world affecting approximately 70 million people. Glaucoma can occur at any age but the commonest type occurs in middle to old age. The disease has a genetic basis and can be inherited. As a result we have been studying the genetics of the disease in two large families from Tasmania. We hope to identify the genes involved in disease causation using a number of genetic techniques. Once mutations in a disease gene have been identified from affected individuals we will then be in a position to look for mutations in other family members and identify those individuals at risk of developing disease. Improvements in our understanding of how these genes are involved in disease causation will allow us to offer diagnostic testing to the wider community and develop better therapeutic interventions for treatment.Read moreRead less
A Genome Wide Association Study For Endometriosis Susceptibility Genes
Funder
National Health and Medical Research Council
Funding Amount
$946,750.00
Summary
Endometriosis is a common condition that affects up to 10% of women. Symptoms are severe pelvic pain, menstrual problems and infertility with major impacts on women's lives and relationships. Since 1996, 4,000 affected women plus their families have joined our genetic study. Our aim is to conduct a genome wide search to identify genes contributing to endometriosis. This knowledge will ultimately lead to better diagnosis and treatment for the millions of women who suffer the disease.
Genes Controlling The Development Of Lung Disease In Normal And Cystic Fibrosis Mice.
Funder
National Health and Medical Research Council
Funding Amount
$362,582.00
Summary
Patients with cystic fibrosis have a lethal predisposition to bacterial infection which causes irreversible lung disease. It is clear that even when patients carry the same mutation in the defective gene (CFTR), genetic background influences the course of the disease. Very little is known of the nature of these other genes and this proposal will identify those genes which influence the response of the CF lung to pathogens and in doing so may indicate novel therapeutic strategies.
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0668440
Funder
Australian Research Council
Funding Amount
$850,000.00
Summary
Advanced technology for transcriptomics, genomics and gene mapping. Acquistion of the equipment requested in this application will maintain the expertise developed by researchers within New South Wales and attract and retain exceptional individuals who can contribute to our understanding of how genes interact with one another. The benefit of such an enhances facility will be the delivery of a better functional understanding of health and disease which will provide both community and national be ....Advanced technology for transcriptomics, genomics and gene mapping. Acquistion of the equipment requested in this application will maintain the expertise developed by researchers within New South Wales and attract and retain exceptional individuals who can contribute to our understanding of how genes interact with one another. The benefit of such an enhances facility will be the delivery of a better functional understanding of health and disease which will provide both community and national benefits. The primary purpose of this LIEF application is to standardize approaches to the study of genome function across the nodes of the Ramaciotti facility and to expand the capacities of the facility to cope with the increased demand in this technology. Read moreRead less
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0560714
Funder
Australian Research Council
Funding Amount
$509,131.00
Summary
Phenotype genotype comparisons using functional genomic approaches. The Ramaciotti Centre for Gene Function Analysis comprises a multi-node network across the state of NSW involving 4 major universities. Using the resources of the Centre, over 100 researchers are undertaking projects comparing genotypes and phenotypes utilising state-of-art genomic based strategies comprising microarrays and SNP analysis. This application will further expand the resources available to researchers with the additi ....Phenotype genotype comparisons using functional genomic approaches. The Ramaciotti Centre for Gene Function Analysis comprises a multi-node network across the state of NSW involving 4 major universities. Using the resources of the Centre, over 100 researchers are undertaking projects comparing genotypes and phenotypes utilising state-of-art genomic based strategies comprising microarrays and SNP analysis. This application will further expand the resources available to researchers with the addition of: (1) Affymetrix based chip microarrays; (2) Options for setting up SNP analysis for both high throughput, and medium throughput analyses and (3) Expanding the robotics options available throught the Centre.Read moreRead less
Many recent gene mapping efforts have focused on population based approaches instead of previously used family based approaches. One of the limiting factors with population based approaches is the cost of the technology - each participant must be evaluated (or genotyped) for hundreds of thousands of genetic markers. The cost can be reduced by using an approach which pools individuals together for genotyping, with statistical models used to deal with the problems that this creates.
Histone H3.3 Dynamics At The Telomere In Pluripotent Embryonic Stem Cells
Funder
National Health and Medical Research Council
Funding Amount
$571,977.00
Summary
The telomere is required for the protection of the chromosome ends. Telomere loses its repeat during each cell division, so telomere shorthening is one of the mechanisms underlying organismal aging as critically short telomeres induce chromosome instability and cell death. Defective telomeres can also result in genetic diseases and development of cancers. Here, we propose to study the mechanism that operates to ensure continual telomere renewal without senescence in embryonic stem cells.