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
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Identifying and Tracking Influential Events in Large Social Networks. This project aims to invent a novel model and techniques for identifying and tracking influential events in large and dynamic social networks in real time. The proposed model would take into account the structure and content of social networks, and the influence of events. The project also plans to develop efficient strategies for identifying and tracking events in large and dynamic social network environments based on the mod ....Identifying and Tracking Influential Events in Large Social Networks. This project aims to invent a novel model and techniques for identifying and tracking influential events in large and dynamic social networks in real time. The proposed model would take into account the structure and content of social networks, and the influence of events. The project also plans to develop efficient strategies for identifying and tracking events in large and dynamic social network environments based on the model, In particular, the project plans to investigate flexible social network query methods to make users’ event search easy. Finally the project plans to build an evaluation system to demonstrate the efficiency of the algorithms and effectiveness of the model.Read moreRead less
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Analysis and classification of malicious code. Malicious software such as viruses and worms directly attacks the security, privacy and integrity of Australian e-commerce, large databases and communication channels. The recent uptake of malicious software by organised crime has made finding effective countermeasures more urgent. Around 80% of the malicious code in circulation is disguised in some way. This significantly increases the difficulty of automated detection and delays analysis. Automate ....Analysis and classification of malicious code. Malicious software such as viruses and worms directly attacks the security, privacy and integrity of Australian e-commerce, large databases and communication channels. The recent uptake of malicious software by organised crime has made finding effective countermeasures more urgent. Around 80% of the malicious code in circulation is disguised in some way. This significantly increases the difficulty of automated detection and delays analysis. Automated classification and de-obfuscation technologies are a precondition to applying more sophisticated detection heuristics. The project will be instrumental in safeguarding Australia by protecting critical infrastructure and defending us from online organised crime and information warfare.Read moreRead less
Information security and digital watermarking with Latin squares. The importance of digital information is increasing constantly. Audio, video, and still image data dominate our daily lives. Such information has commercial and strategic importance. It is invaluable in crime prevention: for example, video from security cameras. The protection of commercially valuable material against piracy and sensitive information against security breaches is vital to our economy and our safety. This project ad ....Information security and digital watermarking with Latin squares. The importance of digital information is increasing constantly. Audio, video, and still image data dominate our daily lives. Such information has commercial and strategic importance. It is invaluable in crime prevention: for example, video from security cameras. The protection of commercially valuable material against piracy and sensitive information against security breaches is vital to our economy and our safety. This project addresses these issues, by developing new, secure watermarks and fingerprints to protect digital information. Such watermarks can also protect radio communication channels, which is important due to the rising demand for wireless connectivity.Read moreRead less
Data retrieval from massive information structures. Information search is an essential tool. But most current services regard the data as unstructured collections of independent documents, free of context. Next-generation search applications, such as over social networks, or corporate websites, or XML data sets, must account for the inherent relationships between data items, and must allow the efficient inclusion of search context. Queries should favour semantically local data, giving results th ....Data retrieval from massive information structures. Information search is an essential tool. But most current services regard the data as unstructured collections of independent documents, free of context. Next-generation search applications, such as over social networks, or corporate websites, or XML data sets, must account for the inherent relationships between data items, and must allow the efficient inclusion of search context. Queries should favour semantically local data, giving results that depend on the perceived state of the querier. This project will develop indexing and search techniques for massive structured data sets. The new search methods will incorporate theoretical advances and will be experimentally validated using industry-standard open-source distributed systems.Read moreRead less
On Effectively Answering Why and Why-not Questions in Databases. While the performance and functionality of database systems have gained dramatic improvement, research on improving usability still remains far behind, which results in huge cost of technical support to organisations. This project aims to improve the usability of database systems by effectively answering users' why and why-not questions on query results. This project will invent a novel and generalised model for expressing both the ....On Effectively Answering Why and Why-not Questions in Databases. While the performance and functionality of database systems have gained dramatic improvement, research on improving usability still remains far behind, which results in huge cost of technical support to organisations. This project aims to improve the usability of database systems by effectively answering users' why and why-not questions on query results. This project will invent a novel and generalised model for expressing both the why and why-not questions, efficient strategies for answering questions for complex queries and databases, and novel solutions to scenarios that involve multiple queries. The project will contribute greatly to the fundamental research in query refinement and deliver significant impact on related technology development. Read moreRead less
Special Research Initiatives - Grant ID: SR0354880
Funder
Australian Research Council
Funding Amount
$10,000.00
Summary
Building trust in Australia's infrastructure: dealing with scientific, technological, business, policy and legal issues in information security. Australia is faced with the challenge of engendering trust in, and protecting, the information systems vital to the economic and social development of the nation. This initiative will produce a national direction for research, development and educational activities in information security with particular emphasis on the protection of the national intere ....Building trust in Australia's infrastructure: dealing with scientific, technological, business, policy and legal issues in information security. Australia is faced with the challenge of engendering trust in, and protecting, the information systems vital to the economic and social development of the nation. This initiative will produce a national direction for research, development and educational activities in information security with particular emphasis on the protection of the national interest. It will do so by bringing together for the first time, academic, government and business people from a vast array of backgrounds, and whose interests lie across a spectrum of commercial, legal, policy and research outcomes.Read moreRead less