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Research Topic : disorders
Field of Research : Genome Structure
Field of Research : Gene Expression
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Gene Expression (4)
Genetics (4)
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  • Researchers (21)
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  • Funded Activity

    Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0667981

    Funder
    Australian Research Council
    Funding Amount
    $200,000.00
    Summary
    Kangaroo Genome Resource Management Facility. Increasingly, large Australian multicentre research programs in biological and medical sciences have a genomics component that involves integration of biological information with sequencing data. The success of these research programs depends on rapid internet access to the research information by all participating scientists. The universal design of the proposed information management system means that it can be easily adapted to support a broad ran .... Kangaroo Genome Resource Management Facility. Increasingly, large Australian multicentre research programs in biological and medical sciences have a genomics component that involves integration of biological information with sequencing data. The success of these research programs depends on rapid internet access to the research information by all participating scientists. The universal design of the proposed information management system means that it can be easily adapted to support a broad range of research programs. The development of this software program therefore has the potential to benefit research scientists, academics and students in many related fields, as well as the broader community, through enhancing research outcomes.
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    Funded Activity

    Discovery Projects - Grant ID: DP1095325

    Funder
    Australian Research Council
    Funding Amount
    $360,000.00
    Summary
    Molecular genetic analyses of trinucleotide repeat expansions. Several neuronal diseases like Huntington's disease, Frederick's ataxia and fragile X syndrome are caused by expansion of trinucleotide repeat sequences in the deoxyribonucleic acid (DNA). These diseases show progressive severity in subsequent generations. Here we use a simple plant model with a very similar DNA mutation to study the genetic basis of repeat expansions over several generations across populations. This proposal will im .... Molecular genetic analyses of trinucleotide repeat expansions. Several neuronal diseases like Huntington's disease, Frederick's ataxia and fragile X syndrome are caused by expansion of trinucleotide repeat sequences in the deoxyribonucleic acid (DNA). These diseases show progressive severity in subsequent generations. Here we use a simple plant model with a very similar DNA mutation to study the genetic basis of repeat expansions over several generations across populations. This proposal will improve our mechanistic understanding of genetic diseases in populations. In addition, this proposal is expected to lead to identification of potential targets and technologies that would be of interest to Australian industry.
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    Funded Activity

    Discovery Projects - Grant ID: DP0346724

    Funder
    Australian Research Council
    Funding Amount
    $225,000.00
    Summary
    Co-ordinated Action of ATM and DNA-PK in DNA damage recognition. The aim of this project is to investigate the mechanism of repair of double straind breaks in DNA sustained after radiation damage. Specifically we will focus on two proteins ATM (mutated in the genetic disorder ataxia-telangiectasia) and DNA-PK mutated in scid mice. There two proteins recognize double straind breaks in DNA and signal this damage to the DNA repair machinery of the cell and to cell cycle checkpoints. The emphasis .... Co-ordinated Action of ATM and DNA-PK in DNA damage recognition. The aim of this project is to investigate the mechanism of repair of double straind breaks in DNA sustained after radiation damage. Specifically we will focus on two proteins ATM (mutated in the genetic disorder ataxia-telangiectasia) and DNA-PK mutated in scid mice. There two proteins recognize double straind breaks in DNA and signal this damage to the DNA repair machinery of the cell and to cell cycle checkpoints. The emphasis here will be in the relationship between the two proteins in co-ordinating the repair of breaks in DNA. This information will be important in understanding mechanisms for maintaining the integrity of the genome.
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    Funded Activity

    Discovery Projects - Grant ID: DP0878289

    Funder
    Australian Research Council
    Funding Amount
    $170,000.00
    Summary
    Investigating the role of gene loops in regulating gene expression. The ability to identify functional variants in regulatory elements will have implications for researchers in multiple fields of biology, from molecular medicine to agriculture. Transfer of expertise and application of the knowledge generated by our research to such fields stands to improve diagnosis of disease predisposition and to improve quality of animal and plant products. These outcomes will benefit all Australians. This kn .... Investigating the role of gene loops in regulating gene expression. The ability to identify functional variants in regulatory elements will have implications for researchers in multiple fields of biology, from molecular medicine to agriculture. Transfer of expertise and application of the knowledge generated by our research to such fields stands to improve diagnosis of disease predisposition and to improve quality of animal and plant products. These outcomes will benefit all Australians. This knowledge will also improve the education of Australian University students as it contributes to the development of advanced curricula and access to more powerful research methods. In addition, the project will foster important collaborations between Australian researchers and those overseas.
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