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.
Genetic architecture of species divergence and hybridisation in eucalypts. Eucalypts are an icon of Australia and are of great economic and ecological significance to the nation. They are the most widely planted hardwood trees in the world, but Australia is the centre of origin of most species and the custodian of this important native bioresource. Understanding the evolutionary processes that shape diversity in this internationally significant genus is important for its long-term management a ....Genetic architecture of species divergence and hybridisation in eucalypts. Eucalypts are an icon of Australia and are of great economic and ecological significance to the nation. They are the most widely planted hardwood trees in the world, but Australia is the centre of origin of most species and the custodian of this important native bioresource. Understanding the evolutionary processes that shape diversity in this internationally significant genus is important for its long-term management and conservation. This project links to large international initiatives currently underway for high-density mapping and sequencing of the eucalypt genome, to enhance the flow of information gained back to Australia for scientific, economic and environmental benefit.Read moreRead less
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 New Platform for Developing a Compound Against Herpes Simplex Virus. This project aims to further explore the research team’s recent fundamental discovery of a protein found naturally in an Australian abalone that inhibits viral entry by blocking three key viral glycoproteins. We would aim to utilise this knowledge towards development of a new class of therapeutics against Herpes simplex viruses (HSV) and their consequent infections. The new therapeutics could overcome the low bioavailability ....A New Platform for Developing a Compound Against Herpes Simplex Virus. This project aims to further explore the research team’s recent fundamental discovery of a protein found naturally in an Australian abalone that inhibits viral entry by blocking three key viral glycoproteins. We would aim to utilise this knowledge towards development of a new class of therapeutics against Herpes simplex viruses (HSV) and their consequent infections. The new therapeutics could overcome the low bioavailability of current drugs and thus significantly shorten the recurrence period. Such new drugs may have broad applicability.Read moreRead less
Dissecting The Pseudoexfoliation Syndrome With Complementary Genetic, Proteomic And Biophysical Strategies
Funder
National Health and Medical Research Council
Funding Amount
$490,352.00
Summary
Pseudoexfoliation syndrome (PEX) is an eye condition in which flaky material deposits in the eye, greatly increasing the risk of cataract and glaucoma which can lead to blindness. PEX is also associated with heart disease, strokes and aneurysms. Cataract surgery in PEX patients has a higher rate of complications. In this project we will determine the nature of PEX material and why it forms. This knowlege will facilitate better diagnosis and treatment of PEX preventing associated blindness.
Contribution of hybridisation to genetic diversity and adaptation in Eucalyptus. The eucalypt gene pool is an outstandingly important bioresource for Australia. Its effective future management will be based on understanding the extent, causes and significance of genetic variation in eucalypt species. This project investigates a currently overlooked, but potentially important, source of genetic diversity and adaptation in Eucalyptus. The knowledge gained will contribute substantially to our un ....Contribution of hybridisation to genetic diversity and adaptation in Eucalyptus. The eucalypt gene pool is an outstandingly important bioresource for Australia. Its effective future management will be based on understanding the extent, causes and significance of genetic variation in eucalypt species. This project investigates a currently overlooked, but potentially important, source of genetic diversity and adaptation in Eucalyptus. The knowledge gained will contribute substantially to our understanding of eucalypt biology, and will inform decision-making for conservation, revegetation, and sustainable use of seed resources. Through addressing fundamental questions, the project will also provide a uniquely Australian contribution to world research in forest molecular genetics.Read moreRead less
The role of recombination in eucalypt evolution. Meiotic recombination is a key source of the genetic variation upon which evolution thrives. This project aims to exploit new genomic resources to provide the first detailed study of recombination in Australia’s iconic Eucalypts and clarify its evolutionary role. This project will study: variation in the rate of recombination along the 11 Eucalypt chromosomes, and determine genome features which are associated with ‘hotspots’ and ‘coldspots’ of re ....The role of recombination in eucalypt evolution. Meiotic recombination is a key source of the genetic variation upon which evolution thrives. This project aims to exploit new genomic resources to provide the first detailed study of recombination in Australia’s iconic Eucalypts and clarify its evolutionary role. This project will study: variation in the rate of recombination along the 11 Eucalypt chromosomes, and determine genome features which are associated with ‘hotspots’ and ‘coldspots’ of recombination; the patterns of variation in recombination rate between species, genotypes, sexes and chromosomes; and, whether the environment and population history affect recombination and thus evolvability of natural populations.Read moreRead less
Identification Of Glaucoma Susceptibility Variants By Exome Sequencing In Extended Pedigrees Showing Prior Evidence Of Gene Segregation.
Funder
National Health and Medical Research Council
Funding Amount
$694,002.00
Summary
Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. In this investigation we aim to identify these genes, with the hope they may offer novel targets for tr ....Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. In this investigation we aim to identify these genes, with the hope they may offer novel targets for treatment or diagnosis.Read moreRead less
The genetics of adaptation: changing developmental trajectories in eucalypts. During their life cycles, many animals and plants undergo genetically programmed changes in form. Such changes may be dramatic and rapid as seen in insect metamorphoses or plant heteroblasty, and may have ecological, evolutionary and even economic consequences. The project aims to identify the genes controlling such transitions in Australia's eucalypts.