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Pathogenic Repeat Expansions In Ataxia: Advancing Gene Discovery And Genetic Diagnosis
Funder
National Health and Medical Research Council
Funding Amount
$645,205.00
Summary
Hereditary ataxia is a severe neurological disorder that results in impaired coordination and balance and affects 1 in 20,000 Australians. Ataxias are often caused by complex genetic mutations called repeat expansions (RE), which are difficult to detect. Therefore, genetic diagnosis of ataxia remains limited and poorly accessible, leading to a gap in clinical care. In this study, we will utilise modern advances in genetic sequencing technology to diagnose and discover ataxias caused by REs.
The capacity for exceptional brain repair in a novel rodent species. This project aims to provide a new and much-needed living tool for studying brain injury and repair. The project expects to generate new evidence of effective brain repair in a mammalian species, the spiny mouse. In particular, it will provide important knowledge of the cellular responses that coordinate to allow mammalian brain repair, revealing targets for future understanding and treatment. Expected outcomes include an in-de ....The capacity for exceptional brain repair in a novel rodent species. This project aims to provide a new and much-needed living tool for studying brain injury and repair. The project expects to generate new evidence of effective brain repair in a mammalian species, the spiny mouse. In particular, it will provide important knowledge of the cellular responses that coordinate to allow mammalian brain repair, revealing targets for future understanding and treatment. Expected outcomes include an in-depth characterisation of how neurons and non-neuronal cells (glia) contribute to brain repair, and the identification of new pathways or targets for mammalian brain repair. In the long-term this should provide significant benefits for future research focused on improving the lives of people affected by brain injury. Read moreRead less
Human Leukocyte Antigen-A and -B regulation of Natural Killer cell function. The aim of this project is to determine how genetic variation in the genes encoding cell surface receptors expressed by innate lymphocytes and the molecules they recognise diversifies their capacity to sense and respond to infection. This knowledge is critical for understanding why there are intrinsic differences between individuals with respect to their capacity to respond to different types of infection and will ultim ....Human Leukocyte Antigen-A and -B regulation of Natural Killer cell function. The aim of this project is to determine how genetic variation in the genes encoding cell surface receptors expressed by innate lymphocytes and the molecules they recognise diversifies their capacity to sense and respond to infection. This knowledge is critical for understanding why there are intrinsic differences between individuals with respect to their capacity to respond to different types of infection and will ultimately inform our capacity to better deploy personalised medicines.Read moreRead less
How is the blood cell population size controlled? Macrophage-like cells are an ancient animal blood cell lineage critically important for development, immunity, and homeostasis. This fellowship seeks to reveal the genes and control mechanisms used by animals to achieve an optimally-sized army of these cells - to contain threats for survival upon infection, heal following acute stress exposures, or for development, ongoing maintenance, and repair of wear and tear. By marrying the genetic tractabi ....How is the blood cell population size controlled? Macrophage-like cells are an ancient animal blood cell lineage critically important for development, immunity, and homeostasis. This fellowship seeks to reveal the genes and control mechanisms used by animals to achieve an optimally-sized army of these cells - to contain threats for survival upon infection, heal following acute stress exposures, or for development, ongoing maintenance, and repair of wear and tear. By marrying the genetic tractability of the model organism Drosophila and its simple, yet conserved blood cell system, this project will yield new insights into the mechanisms that govern the animal blood cell population. This will benefit our fundamental understanding of how animals maximise their health throughout life.Read moreRead less
Marsupial genomics: antimicrobial peptides and endangered species conservation. This project aims to use Australia’s unique biodiversity to tackle the global challenge of antimicrobial resistance. Rapid gene duplication and evolution of antimicrobial peptide genes in marsupials provide protection for joeys that are immunologically naïve in the pouch. By characterising immune genes in 10 marsupial species, this project will yield new antimicrobial peptides that can tackle superbugs. Genomic infor ....Marsupial genomics: antimicrobial peptides and endangered species conservation. This project aims to use Australia’s unique biodiversity to tackle the global challenge of antimicrobial resistance. Rapid gene duplication and evolution of antimicrobial peptide genes in marsupials provide protection for joeys that are immunologically naïve in the pouch. By characterising immune genes in 10 marsupial species, this project will yield new antimicrobial peptides that can tackle superbugs. Genomic information will also be used to provide significant benefits, such as improving the long term conservation of our endangered native species in a more appropriate and cost-effective way.Read moreRead less
Will genetic rescue save the Tasmanian devil? This project aims to measure the long-term genetic impacts of the Save the Tasmanian Devil Program’s ‘Wild Devil Recovery’ initiative. The project will determine whether supplementing small populations with individuals that are genetically diverse reduces inbreeding depression. The project will also monitor the impact of supplementation on the evolutionary trajectory of Devil Facial Tumour Disease. The project will train a cohort of conservation scie ....Will genetic rescue save the Tasmanian devil? This project aims to measure the long-term genetic impacts of the Save the Tasmanian Devil Program’s ‘Wild Devil Recovery’ initiative. The project will determine whether supplementing small populations with individuals that are genetically diverse reduces inbreeding depression. The project will also monitor the impact of supplementation on the evolutionary trajectory of Devil Facial Tumour Disease. The project will train a cohort of conservation scientists to translate genetic data into management actions. The outputs will directly inform the management actions of the Tasmanian Department of Primary Industries Parks, Water and the Environment and will help shape other species recovery programs.Read moreRead less
Gene regulation by retroelement encoded natural antisense transcripts. Genetic information underpins all life on earth and is processed to make proteins, which determine the characteristics of an organism. However, only about 2% of our whole genome is made up of genes that encode proteins; the other 98% is non-coding and its function remains poorly understood. Aims and Significance: This proposal aims to utilise cutting edge genomic technologies to generate new knowledge about how the non-coding ....Gene regulation by retroelement encoded natural antisense transcripts. Genetic information underpins all life on earth and is processed to make proteins, which determine the characteristics of an organism. However, only about 2% of our whole genome is made up of genes that encode proteins; the other 98% is non-coding and its function remains poorly understood. Aims and Significance: This proposal aims to utilise cutting edge genomic technologies to generate new knowledge about how the non-coding genome regulates the expression of protein coding genes. Expected Outcomes and Benefits: This proposal will provide novel targets and methodology for gene modulation with broad applications from biology to environmental sciences.Read moreRead less
Investigating the evolution of innate and adaptive cellular immunity. This proposal aims to assess the impact of geographical and genetic isolation of the Australian Indigenous population on adaptive and innate immune systems. The project will use novel DNA sequencing approaches to generate the high resolution sequences of two genetic loci that regulate innate and adaptive immune responses, the major histocompatibility complex locus and the killer cell immunoglobulin-like receptor locus. In an i ....Investigating the evolution of innate and adaptive cellular immunity. This proposal aims to assess the impact of geographical and genetic isolation of the Australian Indigenous population on adaptive and innate immune systems. The project will use novel DNA sequencing approaches to generate the high resolution sequences of two genetic loci that regulate innate and adaptive immune responses, the major histocompatibility complex locus and the killer cell immunoglobulin-like receptor locus. In an initial screen, distinct variants and combinations of these genes were identified. This project aims to interrogate how variation in these critical genes impacts on the function of cytotoxic lymphocytes, providing insights into the evolutionary drivers of immune recognition mechanisms.Read moreRead less
Can parasites cause host population divergence? . Parasites have been proposed to be drivers of population divergence, and ultimately speciation, yet the dynamics of this process are not well understood. This project will utilise new genomic techniques, novel hybrid zone analyses, and data on mate choice, to investigate the hypothesis that parasites drive population divergence through an interaction with immune response genes in the sleepy lizard Tiliqua rugosa. This species provides an unpreced ....Can parasites cause host population divergence? . Parasites have been proposed to be drivers of population divergence, and ultimately speciation, yet the dynamics of this process are not well understood. This project will utilise new genomic techniques, novel hybrid zone analyses, and data on mate choice, to investigate the hypothesis that parasites drive population divergence through an interaction with immune response genes in the sleepy lizard Tiliqua rugosa. This species provides an unprecedented system, backed by 37 years of long term host-parasite and behavioural data, and recent genetic analyses. This project intends to produce significant data to allow an examination of the early stages of host-parasite evolution in action, providing novel insights into the speciation process. Read moreRead less