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.
Understanding The Causes Of Childhood Congenital Anomalies Of The Kidney And Urinary Tract
Funder
National Health and Medical Research Council
Funding Amount
$609,748.00
Summary
Congenital anomalies of the kidney and urinary tract (CAKUT) is a common cause of renal failure in children. The majority of patients with CAKUT do not know the underlying cause of their renal anomalies. In this proposal we will characterise the developmental events that are perturbed in three mouse models of CAKUT and identify the causal gene responsible in each mouse model. We will translate this information to the clinic by screening patients with CAKUT for mutations in these newly identified ....Congenital anomalies of the kidney and urinary tract (CAKUT) is a common cause of renal failure in children. The majority of patients with CAKUT do not know the underlying cause of their renal anomalies. In this proposal we will characterise the developmental events that are perturbed in three mouse models of CAKUT and identify the causal gene responsible in each mouse model. We will translate this information to the clinic by screening patients with CAKUT for mutations in these newly identified genes.Read moreRead less
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
Sensory strategies for protecting endangered sawfishes. The Gulf of Carpentaria is the last habitat worldwide containing sustainable populations of sawfish. Easily entangled in nets, the saw has reduced population numbers dramatically in Australia with all species now protected under the Australian Environment Protection and Biodiversity Conservation Act, including the Convention on International Trade in Endangered Species (CITES). This study will provide basic biological information on feeding ....Sensory strategies for protecting endangered sawfishes. The Gulf of Carpentaria is the last habitat worldwide containing sustainable populations of sawfish. Easily entangled in nets, the saw has reduced population numbers dramatically in Australia with all species now protected under the Australian Environment Protection and Biodiversity Conservation Act, including the Convention on International Trade in Endangered Species (CITES). This study will provide basic biological information on feeding, prey manipulation and the role of critical senses in the only captive population of sawfishes in Australia. Such knowledge will underpin the development and use of visual, chemical and/or magnetic repellents by fisherman that are still responsible for the loss of large numbers of sawfish as by-catch.Read moreRead less
Seeing without eyes: the evolution of non-visual photoreceptors in vertebrates. Australia's underwater biodiversity is second to none with endemic species representing the earliest stages in vertebrate evolution, many of them relying heavily on vision for survival. Tracing the evolution of light detection and image formation will provide crucial information about the lifestyles of our vertebrate ancestors, the environmental selection pressures driving speciation and colour communication. Charact ....Seeing without eyes: the evolution of non-visual photoreceptors in vertebrates. Australia's underwater biodiversity is second to none with endemic species representing the earliest stages in vertebrate evolution, many of them relying heavily on vision for survival. Tracing the evolution of light detection and image formation will provide crucial information about the lifestyles of our vertebrate ancestors, the environmental selection pressures driving speciation and colour communication. Characterisation of optimal light environments and extra-ocular light detection will also help protect and manage endemic species in wild and captive environments. Read moreRead less
Assessing the benefits of closed fishing areas for spawning aggregations and egg production for coral trout. Coral trout is a valuable finfish species that inhabits coral reef systems in Australia. Like most other finfish species, coral trout is managed mainly through catch and size limits. However, closed fishing areas also provide a degree of protection from exploitation. Worldwide, closed fishing areas have been shown to provide larger and more fish within their boundaries. At present, there ....Assessing the benefits of closed fishing areas for spawning aggregations and egg production for coral trout. Coral trout is a valuable finfish species that inhabits coral reef systems in Australia. Like most other finfish species, coral trout is managed mainly through catch and size limits. However, closed fishing areas also provide a degree of protection from exploitation. Worldwide, closed fishing areas have been shown to provide larger and more fish within their boundaries. At present, there are limited empirical data to show that they provide benefits to fish stocks. This project aims to examine whether closed fishing areas provide a benefit to coral trout at the Abrolhos Islands, Western Australia.Read moreRead less
Aquatic eye design: sharks and rays as models of underwater colour and luminance vision. Sharks are usually assumed to be colour blind. We have discovered that they may in fact see colour very well and that the eyes of different species are adapted to their particular lifestyles. Our research will help to raise the profile of sharks and portray them as animals with advanced sensory systems and complex visual behaviours rather than just dangerous killing machines. Studying the vision of sharks m ....Aquatic eye design: sharks and rays as models of underwater colour and luminance vision. Sharks are usually assumed to be colour blind. We have discovered that they may in fact see colour very well and that the eyes of different species are adapted to their particular lifestyles. Our research will help to raise the profile of sharks and portray them as animals with advanced sensory systems and complex visual behaviours rather than just dangerous killing machines. Studying the vision of sharks may also help to reduce the number (currently >50,000) that are killed each year as bycatch by Australian long-line fisheries and make a valuable contribution to one of Australia's National Research Priorities (an Environmentally Sustainable Australia) for managing and conserving our biodiversity.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
Effects of physical disturbance on kelp-dominated reef communities across a broad temperate-tropical transition zone. The outcomes of this project will improve the understanding of the interactions between physical disturbances, nutrient enrichment and climate change. This addresses the national research priority of an environmentally sustainable Australia (priority goals sustainable use of biodiversity and responding to climate changes) and will contribute directly to Australia's commitments on ....Effects of physical disturbance on kelp-dominated reef communities across a broad temperate-tropical transition zone. The outcomes of this project will improve the understanding of the interactions between physical disturbances, nutrient enrichment and climate change. This addresses the national research priority of an environmentally sustainable Australia (priority goals sustainable use of biodiversity and responding to climate changes) and will contribute directly to Australia's commitments on marine ecosystem management and conservation.Read moreRead less
Population Viability Analysis of the Perth Metropolitan Population of the Little Penguin. The population of Little Penguins, breeding on Penguin and Garden Islands, in the Perth Metropolitan region, are an iconic species and a valuable ecotourism resource They breed and feed in close proximity to high human activity and a rapidly growing urban population. The nearest other major populations are located 600km to the south. The key benefit of this project is that it will provide a basis for meas ....Population Viability Analysis of the Perth Metropolitan Population of the Little Penguin. The population of Little Penguins, breeding on Penguin and Garden Islands, in the Perth Metropolitan region, are an iconic species and a valuable ecotourism resource They breed and feed in close proximity to high human activity and a rapidly growing urban population. The nearest other major populations are located 600km to the south. The key benefit of this project is that it will provide a basis for measuring the impacts of threats to this isolated population, and for testing management strategies. Thus it represents a key step in securing the long term future of the penguin population in Perth's waters.
Read moreRead less