Why is most of the genetic variance for complex traits undetected by large powerful screens of common variants? The genomics revolution has made it possible to measure thousands of DNA variants in individuals. These variants have been associated with phenotypic outcomes in a range of species. Paradoxically, even very large studies have only accounted for a fraction of the resemblance between relatives that we know exist. Our study will test three specific hypotheses to explain this paradox. A be ....Why is most of the genetic variance for complex traits undetected by large powerful screens of common variants? The genomics revolution has made it possible to measure thousands of DNA variants in individuals. These variants have been associated with phenotypic outcomes in a range of species. Paradoxically, even very large studies have only accounted for a fraction of the resemblance between relatives that we know exist. Our study will test three specific hypotheses to explain this paradox. A better understanding about the genetic architecture for complex traits will improve the efficiency of gene mapping methods, including applications in humans for traits related to productive ageing and a healthy start to life, will lead to more efficient selection programs in agricultural populations and will inform us with respect to past evolutionary events.Read moreRead less
I am a scientist aiming to improve health outcomes by facilitating the collection and unification of data on human genetic variation together with its clinical impact on human health.
The multiplexed diagnosis of arbovirus infections using combinatorial probes. Viruses that cause serious diseases such as hemorrhagic fever or encephalitis must be quickly identified. Diagnostic tests based on DNA hybridisation are accurate and can be rapid but they are expensive. We will test a method for simplifying DNA tests and increasing their capabilities. DNA probes for detecting arboviruses will be designed at the ANU using new bioinformatic methods and their reliability will be model ....The multiplexed diagnosis of arbovirus infections using combinatorial probes. Viruses that cause serious diseases such as hemorrhagic fever or encephalitis must be quickly identified. Diagnostic tests based on DNA hybridisation are accurate and can be rapid but they are expensive. We will test a method for simplifying DNA tests and increasing their capabilities. DNA probes for detecting arboviruses will be designed at the ANU using new bioinformatic methods and their reliability will be modelled using all the available genetic information. Computer predictions will be experimentally tested in the PANBIO laboratory by using the probes to detect viral nucleic acids. The influence of virus genome complexity will be investigatedRead moreRead less
Functional Genomics to Predict and Enhance Response to Interferon. The increasing number and huge cost impost of new therapies to health providers, both worldwide and nationally, has not yet resulted in a concomitant increase in strategies to optimise their use. Many of the new therapies are proteins (recombinant human proteins or humanised monoclonal antibodies). The improved use of one of Australia's most expensive commonly used protein drugs, pegylated interferon ribavirin (Peg-IFN-R), could ....Functional Genomics to Predict and Enhance Response to Interferon. The increasing number and huge cost impost of new therapies to health providers, both worldwide and nationally, has not yet resulted in a concomitant increase in strategies to optimise their use. Many of the new therapies are proteins (recombinant human proteins or humanised monoclonal antibodies). The improved use of one of Australia's most expensive commonly used protein drugs, pegylated interferon ribavirin (Peg-IFN-R), could potentially produce savings to the Pharmaceutical Benefits Scheme (PBS), and improve delivery of healthcare to thousands of Australians.Read moreRead less
Genomic and molecular characterisation of a novel Australian leishmania pathogen. Leishmaniasis is the second most serious protozoal disease after malaria. This project will help characterise the first Leishmania species identified in Australia providing molecular tools to monitor the pathogen and a detailed assessment of any potential risk to human health. Comparative analysis with more pathogenic species will help identify genes and mechanisms that determine the progression of human disease le ....Genomic and molecular characterisation of a novel Australian leishmania pathogen. Leishmaniasis is the second most serious protozoal disease after malaria. This project will help characterise the first Leishmania species identified in Australia providing molecular tools to monitor the pathogen and a detailed assessment of any potential risk to human health. Comparative analysis with more pathogenic species will help identify genes and mechanisms that determine the progression of human disease leading to the potential identification of new drug and vaccine targets. The methodologies and expertise developed will be used will be available to other research groups working on infectious diseases.Read moreRead less
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0668507
Funder
Australian Research Council
Funding Amount
$260,000.00
Summary
Real time PCR and nanoparticle diagnostic facilities for high-throughput quantitative analysis of genomic structure and gene expression. Modern molecular tools have lead to an explosion in genome projects and unification of all areas of biology. The most basic need for such research is access to improving technologies for detecting DNA fingerprints that distinguish genetically-diverse genes, and determining which genes are "switched on" or 'off' in various situations. Real time PCR technology, ....Real time PCR and nanoparticle diagnostic facilities for high-throughput quantitative analysis of genomic structure and gene expression. Modern molecular tools have lead to an explosion in genome projects and unification of all areas of biology. The most basic need for such research is access to improving technologies for detecting DNA fingerprints that distinguish genetically-diverse genes, and determining which genes are "switched on" or 'off' in various situations. Real time PCR technology, pioneered by The University of Queensland (UQ) and Southern Cross University (SCU) using ARC funding in 1996, is now the technology of choice for much of this research. This project will provide high-throughput equipment for real time PCR, and will develop complementary high-throughput "nanoparticle" DNA genotyping technologies, with applications to medicine and agriculture.
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Understanding disease resistance gene evolution across the Brassicaceae. Pan genomes represent the diversity of a species, including structural and sequence variation, which cannot be provided by a reference genome alone. In this project we will characterise resistance gene diversity across the Brassicaceae pan genomes. Through comparison with resistance gene diversity in cultivated Brassica species we will understand selection underlying resistance gene evolution in wild species and subsequent ....Understanding disease resistance gene evolution across the Brassicaceae. Pan genomes represent the diversity of a species, including structural and sequence variation, which cannot be provided by a reference genome alone. In this project we will characterise resistance gene diversity across the Brassicaceae pan genomes. Through comparison with resistance gene diversity in cultivated Brassica species we will understand selection underlying resistance gene evolution in wild species and subsequent domestication and breeding. Knowledge on how variation affects disease susceptibility, especially to the devastating fungal pathogen blackleg, and contributes to phenotypic variation, will lead to improved plant protection strategies and increased crop resilience.Read moreRead less
The More the Merrier? Investigating copy number variation in Brassicas. This project intends to develop an understanding of how gene copy number variation affects disease susceptibility to help in the design of novel plant protection strategies. Gene copy number variants (CNVs) are segments of DNA that have been duplicated or lost in the genome of one individual or line with respect to another. CNVs have been shown to contribute significantly to phenotypic differences in humans, including diseas ....The More the Merrier? Investigating copy number variation in Brassicas. This project intends to develop an understanding of how gene copy number variation affects disease susceptibility to help in the design of novel plant protection strategies. Gene copy number variants (CNVs) are segments of DNA that have been duplicated or lost in the genome of one individual or line with respect to another. CNVs have been shown to contribute significantly to phenotypic differences in humans, including disease susceptibility, and the same seems to apply in plants. This project aims to apply the genome sequences for Brassica species to detect CNVs from re-sequencing data. Knowing how this variation affects an individual or line’s disease susceptibility, especially to the devastating fungal pathogen blackleg, could improve plant protection strategies and crop production.Read moreRead less
Characterising structural variation in the canola genome. Characterising structural variation in the canola genome. This project aims to develop and apply genomic tools to identify and characterise structural genome variation in canola, a major Australian export crop, to better understand genome evolution and accelerate canola breeding. Advances in DNA sequencing revolutionise our understanding of crop genomes, their evolution and impact on the inheritance on agronomic traits. Variation of genom ....Characterising structural variation in the canola genome. Characterising structural variation in the canola genome. This project aims to develop and apply genomic tools to identify and characterise structural genome variation in canola, a major Australian export crop, to better understand genome evolution and accelerate canola breeding. Advances in DNA sequencing revolutionise our understanding of crop genomes, their evolution and impact on the inheritance on agronomic traits. Variation of genome structure between individuals could be important in the inheritance of important agronomic traits. Recent advances in technology permit the detailed characterisation of structural variation on a previously unfeasible scale. Anticipated outcomes are enhanced global food security, supporting rural Australian economies, and accelerating the improvement of other major crops.Read moreRead less
From the pouch to the grave: age and sex related changes in immunity in the Tasmanian devil. Tasmanian devils face extinction in the wild due to the emergence of a contagious cancer: Devil Facial Tumour Disease (DFTD). A comprehensive understanding of the devil immune system is necessary to better understand the disease and develop a vaccine against it. This project will characterise immune responses of healthy devils throughout life, from the pouch, to onset of puberty, to old age. This project ....From the pouch to the grave: age and sex related changes in immunity in the Tasmanian devil. Tasmanian devils face extinction in the wild due to the emergence of a contagious cancer: Devil Facial Tumour Disease (DFTD). A comprehensive understanding of the devil immune system is necessary to better understand the disease and develop a vaccine against it. This project will characterise immune responses of healthy devils throughout life, from the pouch, to onset of puberty, to old age. This project will then compare these responses in DFTD-affected devils to determine why DFTD affects older animals first and does not affect sexually-immature devils. Additional outcomes will include the development of novel antibiotics against human and animal diseases and an atlas of devil development using the latest imaging technologies.Read moreRead less