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Preparing Australia For Genomic Medicine: A Proposal By The Australian Genomics Health Alliance
Funder
National Health and Medical Research Council
Funding Amount
$25,000,000.00
Summary
The sequencing of the human genome brings the possibility of more accurate identification of the underlying basis of many diseases. This technology has moved so rapidly, however, that clinical access has been limited. In this application, a national alliance of clinicians, researchers, health economists and policymakers will evaluate the case for clinical genomics across inherited disease and cancer, determine how best to deliver this to the patient and train a capable workforce.
Improving access to phylogenomic resources for under-resourced species: a new look at existing tools. This project will have an impact on our understanding of how to most effectively use existing genomic resources to benefit a wider range of species and to better design new genomic resources. By doing so, improved access to genomic resources will be provided to species that currently have few options.
Analysing and modelling molecular rate variation among nuclear and mitochondrial genomes. My research will have important practical benefits for bioinformaticians and evolutionary biologists, because existing analytical methods will be rigorously tested and new tools will be developed. Australia has a comparatively high concentration of researchers in this field, so my research will foster domestic collaboration and import international expertise. The research will provide important insights int ....Analysing and modelling molecular rate variation among nuclear and mitochondrial genomes. My research will have important practical benefits for bioinformaticians and evolutionary biologists, because existing analytical methods will be rigorously tested and new tools will be developed. Australia has a comparatively high concentration of researchers in this field, so my research will foster domestic collaboration and import international expertise. The research will provide important insights into the rates and patterns of genetic changes associated with domestication, and into variation in evolutionary rates among the primate ancestors of humans. In addition to developing new software, which will be made publicly available, I will develop new evolutionary models to supplement existing software packages. Read moreRead less
Epigenetic silencing in vertebrates: evolution and function from the bottom-up. The primary benefits are contribution to Australia's knowledge base and raising the profile of functional genomics in Australia, with the research priority of Frontier Technologies for Building and Transforming Australian Industries and priority goals in Breakthrough Science and Frontier Technologies. This project focuses on important biological questions surrounding gene regulation and sex chromosome evolution. Inte ....Epigenetic silencing in vertebrates: evolution and function from the bottom-up. The primary benefits are contribution to Australia's knowledge base and raising the profile of functional genomics in Australia, with the research priority of Frontier Technologies for Building and Transforming Australian Industries and priority goals in Breakthrough Science and Frontier Technologies. This project focuses on important biological questions surrounding gene regulation and sex chromosome evolution. International attention has already resulted in genome characterization of Australian icons (wallaby, Tasmanian devil and platypus), more research on these, and other Australian animals, will further highlight the importance of Australian fauna and impact positively on our scientific profile.Read moreRead less
Origin and Evolution of Mammalian Dosage Compensation. The primary benefits are contribution to Australia's knowledge base and raising the profile of functional comparative genomics in Australia, with the research priority of 'Frontier Technologies for Building and Transforming Australian Industries' and priority goals in 'Breakthrough Science and Frontier Technologies'. This project addresses fundamental questions about the evolution of mammalian X-chromosome inactivation, of importance as a mo ....Origin and Evolution of Mammalian Dosage Compensation. The primary benefits are contribution to Australia's knowledge base and raising the profile of functional comparative genomics in Australia, with the research priority of 'Frontier Technologies for Building and Transforming Australian Industries' and priority goals in 'Breakthrough Science and Frontier Technologies'. This project addresses fundamental questions about the evolution of mammalian X-chromosome inactivation, of importance as a model for epigenetic change, and sex chromosomes, which has engaged some of the greatest genetic minds over nearly a century. Therefore my results will attract wide international interest and impact positively on Australia's scientific profile, and further highlight the importance of Australian mammals.Read moreRead less
How novel ribosomal RNA gene repeat variants drive cellular function. The hundreds of ribosomal RNA gene repeat copies are a remarkable part of our genomes, as they encode the machinery responsible for all cellular protein synthesis and shape the structure of the nucleus. However, due to their high degree of sequence similarity, they still have not been assembled into the human genome reference. This project will resolve this impasse and furthermore uncover the functional impacts of a newly iden ....How novel ribosomal RNA gene repeat variants drive cellular function. The hundreds of ribosomal RNA gene repeat copies are a remarkable part of our genomes, as they encode the machinery responsible for all cellular protein synthesis and shape the structure of the nucleus. However, due to their high degree of sequence similarity, they still have not been assembled into the human genome reference. This project will resolve this impasse and furthermore uncover the functional impacts of a newly identified molecular diversity in the ribosomal RNA gene repeats. Outcomes include new paradigms for how the ribosomal RNA gene repeats drive protein synthesis and genome structure, and a blueprint to develop novel genomics applications for human health, biotechnology, and agriculture.Read moreRead less
The Origin and Evolution of the Animal Phyla inferred from Analysis of Multiple-Gene Data. Australia has recently begun an extensive research programme in the genomics of our flora and fauna. The enormous amounts of data that emerge from such research are highly complex, but they hold the key to understanding how biological organisms change over time. Our research will untangle that data to answer fundamental, unanswered questions in modern science: How did the animal groups originate? How are ....The Origin and Evolution of the Animal Phyla inferred from Analysis of Multiple-Gene Data. Australia has recently begun an extensive research programme in the genomics of our flora and fauna. The enormous amounts of data that emerge from such research are highly complex, but they hold the key to understanding how biological organisms change over time. Our research will untangle that data to answer fundamental, unanswered questions in modern science: How did the animal groups originate? How are they related to each other? How is biodiversity changing? The answers to these questions and the new analytical tools we will develop will put Australia firmly on the international "map" of Bioinformatics.Read moreRead less
Auger-electron yields of medical radioisotopes. Large numbers of Auger electrons are emitted during the decay of many medical isotopes. Auger electrons have a short range and a strong ability to break chemical bonds. However no measurements of the number of Auger electrons per nuclear decay exist in the critical low energy regime. Calculated Auger yields are incomplete and inconsistent. Building on unique Australian expertise and instrumentation, and performing both calculations and measurements ....Auger-electron yields of medical radioisotopes. Large numbers of Auger electrons are emitted during the decay of many medical isotopes. Auger electrons have a short range and a strong ability to break chemical bonds. However no measurements of the number of Auger electrons per nuclear decay exist in the critical low energy regime. Calculated Auger yields are incomplete and inconsistent. Building on unique Australian expertise and instrumentation, and performing both calculations and measurements, his project aims to determine the number of Auger electrons per nuclear decay accurately for medical isotopes. The outcome will be accurate dose data for radioisotopes, plus essential knowledge to develop new cancer treatments based on Auger electrons, which target a fraction of a cell.Read moreRead less
Understanding somatic mutation in plants: new methods, new software, new data. Somatic mutations accumulate as plants grow, affecting everything from short-term ecological interactions to long-term evolutionary dynamics. These mutations have important consequences for plant industry and conservation, but because they are so hard to measure almost nothing is known about them. This project aims to develop new methods and software to detect, analyse, and compare the genome-wide history of somatic m ....Understanding somatic mutation in plants: new methods, new software, new data. Somatic mutations accumulate as plants grow, affecting everything from short-term ecological interactions to long-term evolutionary dynamics. These mutations have important consequences for plant industry and conservation, but because they are so hard to measure almost nothing is known about them. This project aims to develop new methods and software to detect, analyse, and compare the genome-wide history of somatic mutation in individual plants, providing an unprecedented level of detail into an important but understudied source of biological variation. By applying these methods to an iconic experimental population, This project aims to provide the first insights into the genome-wide causes and consequences of somatic mutation in plants.Read moreRead less
Genomic signatures of adaptive diversification in woodland Eucalyptus. This project aims to map the sources of adaptive alleles underlying diversification is to reveal insights into the mechanisms of speciation. The source of the raw material for evolution can have significant impacts on the speed with which populations can adapt. An emerging pattern in speciation research is the importance of ancient alleles and introgressed genes, which differ in the genomic signatures left by selection. Eucal ....Genomic signatures of adaptive diversification in woodland Eucalyptus. This project aims to map the sources of adaptive alleles underlying diversification is to reveal insights into the mechanisms of speciation. The source of the raw material for evolution can have significant impacts on the speed with which populations can adapt. An emerging pattern in speciation research is the importance of ancient alleles and introgressed genes, which differ in the genomic signatures left by selection. Eucalyptus offers a unique opportunity to explore these modes of evolution using the latest genomic tools. Improving our understanding of adaptation and genetic variation in woodland eucalypts is expected to make a significant contribution to their conservation, management and restoration.Read moreRead less