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
XML Views of Relational Databases: Semantics and Update Problems. XML is the standard for representing, publishing and exchanging data over the Internet and relational database is the dominant technology for data management. Updating XML views over relational data is fundamental to bring these two technologies together to serve Internet-based applications. Australia has been a leading country in both developing and applying internet technologies. The theoretic outcomes of this project will contr ....XML Views of Relational Databases: Semantics and Update Problems. XML is the standard for representing, publishing and exchanging data over the Internet and relational database is the dominant technology for data management. Updating XML views over relational data is fundamental to bring these two technologies together to serve Internet-based applications. Australia has been a leading country in both developing and applying internet technologies. The theoretic outcomes of this project will contribute to the advance in database and web research communities and establish us as an internationally leading group in this research area. The technological outcomes will help organisations in Australia effectively and efficiently conduct e-Business on the Internet. Read moreRead less
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0347049
Funder
Australian Research Council
Funding Amount
$403,000.00
Summary
Building Australian Literary Knowledge Infrastructure. The primary goal of AustLit: the Australian Literature Gateway is to facilitate and encourage research in, and teaching of, the nation's creative and critical literature. AustLit's innovative world class resource discovery service utilises best practice techniques in information management and knowledge sharing. In 2003, AustLit will develop new technical services and important new content to meet the defined needs of a wide range of educati ....Building Australian Literary Knowledge Infrastructure. The primary goal of AustLit: the Australian Literature Gateway is to facilitate and encourage research in, and teaching of, the nation's creative and critical literature. AustLit's innovative world class resource discovery service utilises best practice techniques in information management and knowledge sharing. In 2003, AustLit will develop new technical services and important new content to meet the defined needs of a wide range of education and information consumers in the area. AustLit provides the foundation for a subject specific digital library that will retain and expand its usefulness into the future.Read moreRead less
A data driven paradigm for service-oriented system engineering. This project aims to design and develop a data driven paradigm for service-oriented system engineering that allows system engineers and domain experts in different domains to build software systems easily in order to enable fast technology transfer within and across domain boundaries. This model integrates and automates a suite of efficient approaches for system structure determination, validation and recommendation based on keyword ....A data driven paradigm for service-oriented system engineering. This project aims to design and develop a data driven paradigm for service-oriented system engineering that allows system engineers and domain experts in different domains to build software systems easily in order to enable fast technology transfer within and across domain boundaries. This model integrates and automates a suite of efficient approaches for system structure determination, validation and recommendation based on keyword search, subgraph isomorphism and substructure query techniques. This project is expected to significantly accelerate the application of new technologies, for example, big data analytics and Internet of Things, in many of Australia's critical domains such as e-Health, smart cities, and cybersecurity.Read moreRead less
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0668073
Funder
Australian Research Council
Funding Amount
$544,000.00
Summary
AustLit - humanities research infrastructure development through knowledge-based dataset building, augmentation of key research elements and ICT developments. The AustLit development and augmentation program 2006-2008 will enable researchers to gain a greater understanding of the breadth and scope of Australia's conversation with the world through its literature by providing new datasets and enhanced access to the pre-eminent resource to our literary culture. AustLit aims to deliver authoritativ ....AustLit - humanities research infrastructure development through knowledge-based dataset building, augmentation of key research elements and ICT developments. The AustLit development and augmentation program 2006-2008 will enable researchers to gain a greater understanding of the breadth and scope of Australia's conversation with the world through its literature by providing new datasets and enhanced access to the pre-eminent resource to our literary culture. AustLit aims to deliver authoritative information and analysable data about all Australian writers and their writing and in 2006 will develop specialist datasets relating to Aboriginal and Torres Strait Islander writers; multicultural writers; and regional and colonial writing from Tasmania and Qld. ICT developments will provide other collaborative groups with an opportunity to use a highly successful middleware platform for new KM projects.Read moreRead less
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE180100158
Funder
Australian Research Council
Funding Amount
$348,026.00
Summary
A large-scale distributed experimental facility for the internet of things. This project aims to establish a large-scale, real-world experimental facility for the Internet of Things (IoT), which is currently missing in Australia, as well as in the rest of the world. The project is expected to be an essential instrument to achieve Australia’s leadership on key enabling technologies of the IoT, and to provide Australian research community with a unique platform for large-scale experimentation and ....A large-scale distributed experimental facility for the internet of things. This project aims to establish a large-scale, real-world experimental facility for the Internet of Things (IoT), which is currently missing in Australia, as well as in the rest of the world. The project is expected to be an essential instrument to achieve Australia’s leadership on key enabling technologies of the IoT, and to provide Australian research community with a unique platform for large-scale experimentation and evaluation of IoT technologies and services. The project will also serve as a vehicle for the education and training of Australia’s next generation of scholars and engineers, and contribute to Australia’s scientific visibility.Read moreRead less