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.
The future of shipping: achieving autonomous navigation. This project aims to develop autonomous decision systems and onshore control stations to support the design and operation of unmanned cargo ships. Blending observations, numerical models, virtual reality and machine learning, the project will develop algorithms for unsupervised navigation and embed these in an advanced ship simulator platform capable of responding to environmental conditions and optimising sea freight transport capabilitie ....The future of shipping: achieving autonomous navigation. This project aims to develop autonomous decision systems and onshore control stations to support the design and operation of unmanned cargo ships. Blending observations, numerical models, virtual reality and machine learning, the project will develop algorithms for unsupervised navigation and embed these in an advanced ship simulator platform capable of responding to environmental conditions and optimising sea freight transport capabilities. The expected outcomes will enable the integration of automated controls in ships, including remote-control capabilities. This will support Australia’s transition towards an autonomous shipping industry, delivering greater reliability, efficiency, productivity and safety.Read moreRead less
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE150100094
Funder
Australian Research Council
Funding Amount
$400,000.00
Summary
Development of a world-class facility for three dimensional dynamic testing. Development of a world-class facility for three dimensional dynamic testing: This project aims to establish a world-class facility for multi-directional dynamic testing. Currently there are no such facilities in Australia. The ability to recreate dynamic motion in all available degrees-of-freedom opens up enormous fields of research not currently possible in Australia. This includes such areas as vibration testing, mate ....Development of a world-class facility for three dimensional dynamic testing. Development of a world-class facility for three dimensional dynamic testing: This project aims to establish a world-class facility for multi-directional dynamic testing. Currently there are no such facilities in Australia. The ability to recreate dynamic motion in all available degrees-of-freedom opens up enormous fields of research not currently possible in Australia. This includes such areas as vibration testing, materials testing, biomechanics and human factors, blast and earthquake simulations, field robotics, automotive safety research, flight/vehicle simulation, and marine applications including sloshing of liquids and liquefaction of fines. In conjunction with a 3D laser doppler system this facility will be unique in the world for dynamic mechanical testing.Read moreRead less
Early Career Industry Fellowships - Grant ID: IE230100048
Funder
Australian Research Council
Funding Amount
$466,097.00
Summary
Ammonium-selective membranes to shift water industry into circular economy. The project aims to develop ammonium-selective membranes which are urgently needed in Australian key industries for sustainable ammonia recovery. The project expects to construct the membranes to achieve desirable pore size and surface functionality for fast and selective ammonia transport. The developed membranes should make ammonia recovery from wastewater more effective and sustainable, leading to the healthy waterway ....Ammonium-selective membranes to shift water industry into circular economy. The project aims to develop ammonium-selective membranes which are urgently needed in Australian key industries for sustainable ammonia recovery. The project expects to construct the membranes to achieve desirable pore size and surface functionality for fast and selective ammonia transport. The developed membranes should make ammonia recovery from wastewater more effective and sustainable, leading to the healthy waterway and reduced energy for both ammonia production and removal. Recovered ammonia expects to produce valuable products, supporting agriculture industry and hydrogen economy. The developed membranes should enable water industry's shift into circular economy, providing significant economic and environmental benefits to Australia.Read moreRead less