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
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.
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.
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.
Maternal effects and sex allocation: an integrated approach. This project will produce research of a high international standard combining a number of key fields in evolution and ecology. The team we have assembled provides a link between Australian-based researchers and leading overseas theoreticians facilitating integration between evolutionary theory and empirical research on the unique Australian fauna. Furthermore, while climate change is identified as a priority area for research, Australi ....Maternal effects and sex allocation: an integrated approach. This project will produce research of a high international standard combining a number of key fields in evolution and ecology. The team we have assembled provides a link between Australian-based researchers and leading overseas theoreticians facilitating integration between evolutionary theory and empirical research on the unique Australian fauna. Furthermore, while climate change is identified as a priority area for research, Australia typically lacks the history of long-term phenological monitoring that is required to understand climate change impacts. This project takes an important step towards addressing this shortcoming.Read moreRead less
Epigenetic Biomarker Discovery For Cardiovascular Disease Risk Stratification Of Women Following Preeclampsia
Funder
National Health and Medical Research Council
Funding Amount
$1,275,101.00
Summary
Those women whom have suffered from severe complications during pregnancy have an increased risk of developing heart disease. This increased risk may be due to epigenetic changes during pregnancy that alter the expression of specific genes. These epigenetic changes persist after birth and increase heart disease risk for these women. This project seeks to evaluate those epigenetic changes associated with severe pregnancy complications predicting heart disease in a large group of Australian women.
Diatom lipids to reveal sea-ice history in remote Antarctic regions. This project aims to understand seasonal Antarctic sea-ice extent using molecular, geochemical, elemental and genomic characteristics of specific marine phytoplankton (diatoms). Little is known of the seasonal sea-ice variation and the position of the summer sea-ice extent a million years before satellite records, but this information is critical to determining air-sea gas exchange and ecosystem food web regulation. This projec ....Diatom lipids to reveal sea-ice history in remote Antarctic regions. This project aims to understand seasonal Antarctic sea-ice extent using molecular, geochemical, elemental and genomic characteristics of specific marine phytoplankton (diatoms). Little is known of the seasonal sea-ice variation and the position of the summer sea-ice extent a million years before satellite records, but this information is critical to determining air-sea gas exchange and ecosystem food web regulation. This project will unite geochemical and biological approaches to provide the data to improve past Antarctic ecosystem and climate models where sea-ice data is missing. Studying diatom biomarkers in deep sea cores from Australia’s Southern Ocean will redefine knowledge of Antarctic climate and provide data necessary to improve global ecosystem and climate models.Read moreRead less
From developmental stability to organismic senility: Hox genes and telomere impact on life history evolution. Australia benefits from training researchers and technicians in new, break-through biotechnology and from applying this knowledge to relevant, cutting-edge questions in highly publicized research fields. This project contains both these ingredients. Our model species (a lizard) has a relatively high level of offspring malformations (ca 15%), which makes it much more likely to detect thei ....From developmental stability to organismic senility: Hox genes and telomere impact on life history evolution. Australia benefits from training researchers and technicians in new, break-through biotechnology and from applying this knowledge to relevant, cutting-edge questions in highly publicized research fields. This project contains both these ingredients. Our model species (a lizard) has a relatively high level of offspring malformations (ca 15%), which makes it much more likely to detect their underlying genetic mechanism. Furthermore, we can also assess how these animals survive and reproduce in relation to how quickly they age, which can be measured by assessing the shortening of telomeres per unit time. Thus, this collaboration provides an opportunity to train Australian researchers and in that process generate very high profile research.Read moreRead less
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
Climate change and ocean acidification: will southern ocean coccolithophorids be winners or losers? Implications for the global carbon pump. This proposal brings skills on morphotaxonomy, microalgal culturing, physiology and biogeochemistry into the flurry of international activity focusing on consequences of ocean acidification. Increasing atmospheric carbon dioxide (CO2) is predicted to reduce calcification in the phytoplankton Emiliania huxleyi, notably in the Southern Ocean. In contrast, hi ....Climate change and ocean acidification: will southern ocean coccolithophorids be winners or losers? Implications for the global carbon pump. This proposal brings skills on morphotaxonomy, microalgal culturing, physiology and biogeochemistry into the flurry of international activity focusing on consequences of ocean acidification. Increasing atmospheric carbon dioxide (CO2) is predicted to reduce calcification in the phytoplankton Emiliania huxleyi, notably in the Southern Ocean. In contrast, higher CO2 may stimulate photosynthesis and enhanced stratification may also select for E. huxleyi. These changes will affect foodwebs and the ability of the ocean to absorb CO2. Predicting the future success of this key organism is vital to understand the consequences of global change in Australian and Southern Ocean waters and to set targets for carbon emissions.Read moreRead less