Identification And Characterisation Of Novel Genes For Congenital Cataract
Funder
National Health and Medical Research Council
Funding Amount
$432,750.00
Summary
Cataracts are the leading cause of blindness worldwide. The term describes a clouding of the lens which may lead to visual impairment. Congenital cataracts (present at birth) are less common than age-related cataract but the lifelong impact on vision can be severe, with a third of patients remaining legally blind. Late complications such as aphakic glaucoma may be blinding. We have shown that congenital cataracts are often inherited and have performed a population-based study in South-Eastern Au ....Cataracts are the leading cause of blindness worldwide. The term describes a clouding of the lens which may lead to visual impairment. Congenital cataracts (present at birth) are less common than age-related cataract but the lifelong impact on vision can be severe, with a third of patients remaining legally blind. Late complications such as aphakic glaucoma may be blinding. We have shown that congenital cataracts are often inherited and have performed a population-based study in South-Eastern Australia over the past 5 years to determine the causative genes. A large number of families have been involved in the study and solid progress has been made in identifying mutations in cataract genes and understanding what effect these may have on the patient's prognosis. We have recently identified a new gene in a large Australian family with a syndrome of cataract, mental retardation and teeth problems. This syndrome, known as Nance-Horan syndrome was originally described in Australia 30 years ago and we have worked with the original family to find the exact gene responsible. We already know that this gene causes the same syndrome in other families and in this project we will examine whether it can cause cataract without the other features or mental retardation without cataract. We will perform a series of experiments to learn what this gene does and how it causes the disease. We have also selected 3 other very interesting families with congenital cataracts for further study as we either know already or strongly suspect that they will enable us to identify further new genes for cataract, and in one case mental retardation. Our work in other diseases indicates that understanding the genes in severe young onset cases can give valuable clues to the causes of age-related forms and may in the future enable new ways to prevent and treat the commonest cause of worldwide blindness.Read moreRead less
A novel regulator of growth signalling in Drosophila. This project aims to increase understanding of how growth is regulated by growth factor hormones. In animals, growth is controlled by signalling pathways that are activated by secreted peptide hormones. A new regulator of growth in the fruitfly Drosophila, the membrane attack complex/perforin-like (MACPF) protein Torso-like, has been identified. The project aims to unravel how Torso-like functions to regulate growth, thus throwing light on th ....A novel regulator of growth signalling in Drosophila. This project aims to increase understanding of how growth is regulated by growth factor hormones. In animals, growth is controlled by signalling pathways that are activated by secreted peptide hormones. A new regulator of growth in the fruitfly Drosophila, the membrane attack complex/perforin-like (MACPF) protein Torso-like, has been identified. The project aims to unravel how Torso-like functions to regulate growth, thus throwing light on the role this protein family may play in all animals. The findings are expected to provide key insights into the modification of growth factor activity, which is often dysregulated in human cancers and growth disorders, and may enable the design of new strategies for interfering with insect development for pest control.Read moreRead less
Lost at sea? Understanding adaptation and dispersal in spiny lobsters. Continual recruitment of young is fundamental to the replenishment of populations, especially when a stock is fished. Existing theory suggests that species with very long planktonic larval stages disperse widely, ensuring their genes are well mixed. However, recently identified genetic differences between populations of rock lobster challenge this paradigm and demonstrate that despite larvae mixing in the ocean for years, loc ....Lost at sea? Understanding adaptation and dispersal in spiny lobsters. Continual recruitment of young is fundamental to the replenishment of populations, especially when a stock is fished. Existing theory suggests that species with very long planktonic larval stages disperse widely, ensuring their genes are well mixed. However, recently identified genetic differences between populations of rock lobster challenge this paradigm and demonstrate that despite larvae mixing in the ocean for years, local recruitment and/or adaptation are at play. Recent developments in genomics and bioinformatics should allow this project to understand the ecological processes underpinning these genetic signatures and determine their evolutionary implications. Such findings could direct targeted rebuilding of depleted fisheries stocks.Read moreRead less
Cellular genomic approach to the pathogenesis of multiple sclerosis. This project compares the levels of gene usage in two important immune cell types between patients with multiple sclerosis and people who do not have the disease. It aims to identify the molecular basis for the disease, in order to identify new diagnostic, preventative and treatment options.
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.
ARC Centre of Excellence - Australian Centre for Electromaterials Science. The Centre will tackle some of the biggest challenges facing society: those of renewable energy, sustainable industries and enhancing human health. Improvements in all these areas are possible by developing electromaterials with improved efficiency in the generation and transfer of electrical charge. By developing new nano-materials and new theories to explain their behaviour, the Centre will make advances in the areas ....ARC Centre of Excellence - Australian Centre for Electromaterials Science. The Centre will tackle some of the biggest challenges facing society: those of renewable energy, sustainable industries and enhancing human health. Improvements in all these areas are possible by developing electromaterials with improved efficiency in the generation and transfer of electrical charge. By developing new nano-materials and new theories to explain their behaviour, the Centre will make advances in the areas of human health through the regeneration of damaged nerves (eg. in spinal injury) and development of artificial muscles; in renewable energy (plastic solar cells, lightweight batteries and electronic textiles) and in sustainable industries (recovery of precious metals and new corrosion protection technologies).Read moreRead less
Special Research Initiatives - Grant ID: SR1101002
Funder
Australian Research Council
Funding Amount
$21,000,000.00
Summary
Stem Cells Australia. Despite progress in stem cell research, scientists do not understand how stem cells “decide” what to become. Stem Cells Australia will draw upon strengths within Australia’s premier stem cell research universities and institutes. This collaboration between leading bioengineering, nanotechnology, stem cell and advanced molecular analysis experts, will fast-track efforts to deliver a fundamental understanding of the mechanisms of stem cell regulation and differentiation, and ....Stem Cells Australia. Despite progress in stem cell research, scientists do not understand how stem cells “decide” what to become. Stem Cells Australia will draw upon strengths within Australia’s premier stem cell research universities and institutes. This collaboration between leading bioengineering, nanotechnology, stem cell and advanced molecular analysis experts, will fast-track efforts to deliver a fundamental understanding of the mechanisms of stem cell regulation and differentiation, and the ability to control and influence this process. Stem Cells Australia will deliver new methods for stem cell propagation and manipulation, new translational technologies for therapeutic applications, and will prepare Australia’s future stem cell scientific leaders.Read moreRead less
ARC/NHMRC Research Network for Parasitology. The ARC Network for Parasitology will focus and coordinate Australia's world class fundamental, strategic and applied parasitology research. This targeted approach will raise Australia's standing in the field, assist in the community's understanding of parasitology and biosecurity and maintain and improve Australia's capacity for keeping its stock, crops, wildlife and people disease-free. On an international scale, the Network will work with other cou ....ARC/NHMRC Research Network for Parasitology. The ARC Network for Parasitology will focus and coordinate Australia's world class fundamental, strategic and applied parasitology research. This targeted approach will raise Australia's standing in the field, assist in the community's understanding of parasitology and biosecurity and maintain and improve Australia's capacity for keeping its stock, crops, wildlife and people disease-free. On an international scale, the Network will work with other countries to develop new technologies for the detection and eradication of parasites. This emphasis will not only protect Australia's borders but will assist our near neighbours and lead to the development of technologies with an economic benefit to Australia.
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Selectivity enhancement in separation science using responsive materials. Increasing public demand for quality products from the chemical, pharmaceutical, biotechnology and food industries requires access to innovative methods of chemical analysis. This project will establish a new class of separation materials of enhanced selectivity and resolving power for the fast, sensitive and reliable analysis of these products.
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0452281
Funder
Australian Research Council
Funding Amount
$102,900.00
Summary
Muscle Vascular Research and Gene Therapy Using Ultrasound. We seek funds to set up a national facility for ultrasound in muscle vascular research and gene therapy. Ultrasound with microbubbles will be used for the imaging of muscle microvascular blood flow and as a delivery modality for gene constructs to endothelial cells that control blood flow. The technology has application to (i) the assessment and therapeutic treatment of impaired microvascular function as in diabetics; (ii) the assessmen ....Muscle Vascular Research and Gene Therapy Using Ultrasound. We seek funds to set up a national facility for ultrasound in muscle vascular research and gene therapy. Ultrasound with microbubbles will be used for the imaging of muscle microvascular blood flow and as a delivery modality for gene constructs to endothelial cells that control blood flow. The technology has application to (i) the assessment and therapeutic treatment of impaired microvascular function as in diabetics; (ii) the assessment of adaptation to physical training and (iii) the development of therapeutic agents used to treat diabetes. We anticipate improved technology that is fully characterized and novel therapeutics that improve microvascular blood flow.Read moreRead less