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
Self-destructing CRISPR-constructs For Targeted Genome Editing In The Retina.
Funder
National Health and Medical Research Council
Funding Amount
$679,926.00
Summary
Despite the identification of specific mutations causing many inherited retinal dystrophies, all of these conditions are currently untreatable. We have established gene-editing techniques and have developed a novel mouse model, which will serve as a robust platform for testing different techniques of gene editing in the retina. No other group in the world is known to be using this platform for gene editing and our work will expedite the clinical translation of this technology.
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0454133
Funder
Australian Research Council
Funding Amount
$101,000.00
Summary
Upgrade of Infrared Analytical Facility. This application seeks funding to upgrade the existing infrared analytical facility in the Central Science Laboratory (CSL) by installing a near infrared analyser.This instrument will provide analytical support to researchers in the fields of silviculture, agriculture and chemistry by providing a low cost, rapid and accurate analysis of the chemical and physical properties of large sample numbers.This instrument will dramatically reduce the project costs, ....Upgrade of Infrared Analytical Facility. This application seeks funding to upgrade the existing infrared analytical facility in the Central Science Laboratory (CSL) by installing a near infrared analyser.This instrument will provide analytical support to researchers in the fields of silviculture, agriculture and chemistry by providing a low cost, rapid and accurate analysis of the chemical and physical properties of large sample numbers.This instrument will dramatically reduce the project costs, compared with traditional wet analytical methods,and enable larger and statistically more significant data sets to be acquired.The expected outcomes will include a more rapid identification of the genes controlling plant characteristics and the development of targeted plant breeding programs of economic significance to Australia.The development of specific resins for gold extraction will be both economically and environmentally important.Read moreRead less
Quantitative genetics of Eucalyptus globulus. Eucalypt plantations in Australia have expanded rapidly over the last decade. With increasing market competition from overseas plantations for both pulp and solid wood products, Australia must maintain a competitive edge through efficiencies in production and product quality. Breeding and deployment of genetically superior planting stock is part of the solution. With global climate chance and requirements for re-afforestation in drier zones, there ....Quantitative genetics of Eucalyptus globulus. Eucalypt plantations in Australia have expanded rapidly over the last decade. With increasing market competition from overseas plantations for both pulp and solid wood products, Australia must maintain a competitive edge through efficiencies in production and product quality. Breeding and deployment of genetically superior planting stock is part of the solution. With global climate chance and requirements for re-afforestation in drier zones, there is an increasing requirement to genetically improve drought tolerance. This project will provide genetic information and strategies to back Eucalyptus globulus breeding and deployment programs for traditional as well as drier environments. Read moreRead less
Integrated genetic regulation of photomorphogenesis in Pisum. This project will use a molecular genetic approach in garden pea to investigate the roles of photoreceptors that mediate developmental responses to light. It will define gene families encoding phytochrome, cryptochrome and phototropin photoreceptors, characterise photoreceptor gene expression, and identify mutants with impaired response to light. The mutants will be used in molecular, physiological and biochemical studies to examine h ....Integrated genetic regulation of photomorphogenesis in Pisum. This project will use a molecular genetic approach in garden pea to investigate the roles of photoreceptors that mediate developmental responses to light. It will define gene families encoding phytochrome, cryptochrome and phototropin photoreceptors, characterise photoreceptor gene expression, and identify mutants with impaired response to light. The mutants will be used in molecular, physiological and biochemical studies to examine how photoreceptors control and co-ordinate development throughout the plant via effects on plant hormone synthesis and response. Results from the project will be of practical importance in manipulating key aspects of plant growth to better suit particular environmental and agronomic objectives.Read moreRead less
The Future In Our Hands: Screening For Preclinical Alzheimer's Disease By Analysing Hand Movements
Funder
National Health and Medical Research Council
Funding Amount
$899,782.00
Summary
Alzheimer's disease (AD) starts damaging the brain 10-20 years before memory problems begin. By the time of diagnosis, it is hard to treat because the damage is so severe. We need a way to detect AD much earlier. We will develop a simple new computer test to detect early signs of AD by recording and analysing hand movements. Then people can start prevention earlier and scientists can research better treatments to improve people's quality of life and reduce the number of people with dementia.
Molecular tools for understanding, predicting and managing flowering and reproductive development in Brassica oleracea. This project integrates basic research with application to a significant horticultural industry, building on Australia's position as a leader in world research on molecular and genetic regulation of flowering. The project will strengthen Australia's research reputation in this field, provide new tools for cultivar screening in and management of B. oleracea seed crops. The proj ....Molecular tools for understanding, predicting and managing flowering and reproductive development in Brassica oleracea. This project integrates basic research with application to a significant horticultural industry, building on Australia's position as a leader in world research on molecular and genetic regulation of flowering. The project will strengthen Australia's research reputation in this field, provide new tools for cultivar screening in and management of B. oleracea seed crops. The project will deliver training for 3 PhD students at the interface between basic and applied research. A shortage of skilled scientists with ability to link understanding of plant development at the molecular/genetic level with improved crop management practices has been identified by the horticultural sector as a major challenge. Read moreRead less
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0561251
Funder
Australian Research Council
Funding Amount
$150,887.00
Summary
Facility for Analyses of Evolutionary Immunology. Our understanding of how selection in natural populations shape (favour and disfavour) immunity, and how this process contribute to organismal (including human) fitness, is rudimentary. In order to study such processes our collective experience strongly suggests and increasing need for geographic amalgamation of necessary and complementary molecular and biomedical techniques. We therefore request funding to establish a collaborative research labo ....Facility for Analyses of Evolutionary Immunology. Our understanding of how selection in natural populations shape (favour and disfavour) immunity, and how this process contribute to organismal (including human) fitness, is rudimentary. In order to study such processes our collective experience strongly suggests and increasing need for geographic amalgamation of necessary and complementary molecular and biomedical techniques. We therefore request funding to establish a collaborative research laboratory in a novel research field - Evolutionary Immuno-Ecology- in which all vital aspects, from a mechanistic to an evolutionary level, can be studied at one research centre.Read moreRead less
The role of plant hormones in arbuscular mycorrhizal symbiosis. The vast majority of plant species can form a beneficial symbiosis with specialised soil fungi, an association that can enhance the uptake of nutrients from the soil, improve tolerance to drought and disease and minimise soil erosion. An understanding of how plants establish and regulate this important symbiosis has the potential to contribute to the development of productive and sustainable farming systems by making efficient use o ....The role of plant hormones in arbuscular mycorrhizal symbiosis. The vast majority of plant species can form a beneficial symbiosis with specialised soil fungi, an association that can enhance the uptake of nutrients from the soil, improve tolerance to drought and disease and minimise soil erosion. An understanding of how plants establish and regulate this important symbiosis has the potential to contribute to the development of productive and sustainable farming systems by making efficient use of the limited water resources, reducing soil erosion, reducing reliance on pesticides and fertilisers and producing more nutritious fruits, vegetables and grains.Read moreRead less
Identifying Rare Genetic Variants Conferring Susceptibility To Multiple Sclerosis
Funder
National Health and Medical Research Council
Funding Amount
$293,898.00
Summary
Recently there has been success in identifying common genetic variants that confer susceptibility to multiple sclerosis. The variants that have been discovered so far have modest effects on risk of disease, and only explain a small proportion of familial aggregation of disease. In this study we aim to identify rarer genetic variants that have stronger effects on risk of disease, using new statistical methods and new methods to sequence very large amounts of DNA.