High Penetrance Deleterious Mutations In Blinding Glaucoma
Funder
National Health and Medical Research Council
Funding Amount
$1,345,055.00
Summary
This project aims to identify the genes most commonly mutated in individuals with advanced glaucoma. Identification of such genes will lead to improved understanding of glaucoma pathogenesis, a better ability to predict risk, and the identification of drug targets for novel therapies.
Is regressive evolution associated with loss of gene function in subterranean animals? This project aims to investigate a fundamental biological process: the evolutionary basis for how non-functional characters, such as eyes in subterranean animals, are lost. It will use a unique model system based on eyeless water beetles, and utilise novel new genomic tools to test whether loss of characters results from gene inactivation.
LATERAL GENE TRANSFER, GENOME EVOLUTION AND THE EMERGENCE OF NEW DISEASES CAUSED BY FUNGAL PATHOGENS IN THE PLEOSPORALES. Normal evolution involves the transfer of genes within species. The modest variation between progeny powers natural selection. Lateral gene transfer is the movement of genetic material between species. It allows for large evolutionary steps. Although common in bacteria, it has rarely been described convincingly in higher organisms such as fungi, plants or animals. We have evi ....LATERAL GENE TRANSFER, GENOME EVOLUTION AND THE EMERGENCE OF NEW DISEASES CAUSED BY FUNGAL PATHOGENS IN THE PLEOSPORALES. Normal evolution involves the transfer of genes within species. The modest variation between progeny powers natural selection. Lateral gene transfer is the movement of genetic material between species. It allows for large evolutionary steps. Although common in bacteria, it has rarely been described convincingly in higher organisms such as fungi, plants or animals. We have evidence that one group of fungal pathogens is particularly adept at acquiring new genes that enable them to cause new diseases. We will determine the mechanism and frequency of gene transfer in this group. The work had fundamental significance in evolutionary biology, in the emergence of new diseases and in the use of genetically-modified organisms.Read moreRead less
Dissecting The Pseudoexfoliation Syndrome With Complementary Genetic, Proteomic And Biophysical Strategies
Funder
National Health and Medical Research Council
Funding Amount
$490,352.00
Summary
Pseudoexfoliation syndrome (PEX) is an eye condition in which flaky material deposits in the eye, greatly increasing the risk of cataract and glaucoma which can lead to blindness. PEX is also associated with heart disease, strokes and aneurysms. Cataract surgery in PEX patients has a higher rate of complications. In this project we will determine the nature of PEX material and why it forms. This knowlege will facilitate better diagnosis and treatment of PEX preventing associated blindness.
The Role Of The Zinc Finger Transcriptional Repressor Znf238 During Nerve Cell Maturation
Funder
National Health and Medical Research Council
Funding Amount
$394,264.00
Summary
Proper foetal brain assembly is critical for brain function, but the underlying genetic mechanisms remain poorly defined. In this study, I will investigate a family of proteins that “turn on” neural gene expression in combination with another protein that “turns off” their expression during nerve cell development. Understanding this novel on/off mechanism for controlling gene expression in newborn nerve cells will further our understanding of how the brain is assembled.
Transcriptional Control Of Blood Vessel Development By Sox18
Funder
National Health and Medical Research Council
Funding Amount
$468,564.00
Summary
Blood vessels play an essential role in maintaining the supply of nutrients to every organ and tissue in the body. Improper development of blood vessels in the embryo can compromise survival of the embryo, and defects in the ability of blood vessels to grow, regenerate and adapt to change during adult life can be life-threatening. The growth of new blood vessels (angiogenesis) is also an important factor in the ability of solid tumours to grow during the progression of cancer. It is therefore of ....Blood vessels play an essential role in maintaining the supply of nutrients to every organ and tissue in the body. Improper development of blood vessels in the embryo can compromise survival of the embryo, and defects in the ability of blood vessels to grow, regenerate and adapt to change during adult life can be life-threatening. The growth of new blood vessels (angiogenesis) is also an important factor in the ability of solid tumours to grow during the progression of cancer. It is therefore of fundamental importance in the health sciences to gain an understanding of how blood vessels form and regenerate. As a result of our collaborative research efforts, we have discovered a gene, Sox18, that appears to regulate blood vessel development by controlling the formation and-or behaviour of endothelial cells, which line the blood vessels and make them impermeable. Our research so far indicates that MICE WITH DEFECTS IN SOX18 DIE FROM VASCULAR DEFECTS, underlining the importance of this gene. THIS PROJECT IS CONCERNED WITH FINDING OUT HOW SOX18 WORKS - exactly what goes wrong in mice lacking this gene, whether Sox18 can influence endothelial cell behaviour in cell culture, how Sox18 comes to be active in endothelial cells, what genes are switched on by Sox18, and what genes Sox18 co-operates with in its role in endothelial cells. The answers to these questions will not only provide fundamental basic information about how blood vessels development is controlled, but also sow the seeds for possible future therapies in which blood vessel development could be stimulated (eg in wound healing) or suppressed (eg in tumour progression) through pharmaceutical intervention.Read moreRead less
Conservation genetics of humpback whales off Western Australia: Implications for the management of the Antarctic Group IV population. We will define the geographic structuring and gene flow of humpback whales comprising Antarctic Area Group IV, and which migrate off the coast of Western Australian. With this information we will develop guidelines for commonwealth, state, industry, and non-government organisations, for conserving and managing discrete (genetic) populations of humpback whales off ....Conservation genetics of humpback whales off Western Australia: Implications for the management of the Antarctic Group IV population. We will define the geographic structuring and gene flow of humpback whales comprising Antarctic Area Group IV, and which migrate off the coast of Western Australian. With this information we will develop guidelines for commonwealth, state, industry, and non-government organisations, for conserving and managing discrete (genetic) populations of humpback whales off Western Australia. We can then manage these cetaceans at the appropriate geographic scale, and assign conservation priority in relation to population genetic structure gained from this study.Read moreRead less
Rapid mapping of genes for complex traits. This project will develop a new resource that will allow rapid identification of genes controlling complex traits. This world-leading resource will improve knowledge of diseases like diabetes and neurological diseases.
Discovery Early Career Researcher Award - Grant ID: DE150100460
Funder
Australian Research Council
Funding Amount
$380,000.00
Summary
Role of DNA methylation in response to low nutrient availability in plants. DNA methylation (mC) is a covalent modification of DNA essential for the establishment and maintenance of correct gene expression patterns and recently suggested to be responsive to some environmental cues in plants. Using cutting edge technologies, this project aims to identify nutrient stress-induced mC changes and investigate the role that these changes may play in transcriptional regulation, as well as assessing whet ....Role of DNA methylation in response to low nutrient availability in plants. DNA methylation (mC) is a covalent modification of DNA essential for the establishment and maintenance of correct gene expression patterns and recently suggested to be responsive to some environmental cues in plants. Using cutting edge technologies, this project aims to identify nutrient stress-induced mC changes and investigate the role that these changes may play in transcriptional regulation, as well as assessing whether these changes can be transmitted to the next generation to confer intergenerational stress responsiveness. Altogether this project aims to provide fundamental knowledge of the role of mC in plant gene regulation and stress response as well as paving the way for the next generation of novel crop-improvement strategies.Read moreRead less
Evolution and the immune system: genetic differences in immune response between human populations due to adaptation to living in different geo-climatic locations. The project, which investigates the genetics of inter-population differences in immune response, will lead to advances in immunology and population genetics research, explain present population specific differences in disease incidence and possibly forecast future population trends of diseases such as asthma and allergy. The study will ....Evolution and the immune system: genetic differences in immune response between human populations due to adaptation to living in different geo-climatic locations. The project, which investigates the genetics of inter-population differences in immune response, will lead to advances in immunology and population genetics research, explain present population specific differences in disease incidence and possibly forecast future population trends of diseases such as asthma and allergy. The study will strengthen ties with collaborators around the world, thus promoting excellence in Australian research and gain Australia prestige in the international community as a country that produces research of global significance. Understanding the immune system's 'recent evolutionary roots' has implications for the health of Australians, especially in light of Australia's increasingly multi-ethnic background.Read moreRead less