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
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0882682
Funder
Australian Research Council
Funding Amount
$100,000.00
Summary
The Australasian Pollen and Spore Atlas. The results generated in this project will enhance Australian research capabilities across multiple disciplines by providing access to key knowledge of pollen and spores in our region. A unified approach to the archiving, presentation and accessibility to existing and evolving databases will provide a considerably improved context for identification and knowledge pooling of any given pollen or spore type. This will create a nexus for novel interactions be ....The Australasian Pollen and Spore Atlas. The results generated in this project will enhance Australian research capabilities across multiple disciplines by providing access to key knowledge of pollen and spores in our region. A unified approach to the archiving, presentation and accessibility to existing and evolving databases will provide a considerably improved context for identification and knowledge pooling of any given pollen or spore type. This will create a nexus for novel interactions between researchers and end users of these data from within and beyond Australia's borders.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