Identifying Target Genes For Novel Anti-epileptic Therapies In The Mouse
Funder
National Health and Medical Research Council
Funding Amount
$469,802.00
Summary
Epilepsy is a disease which affects 2-4% of the population. There are a wide range of drugs available to treat the condition but there is consistently 30-40% of patients who do not respond well to any of these drugs and who continue to have seizures. The reason that there are no drugs available for these people is that most of the drugs available have been designed along the same principles. A new set of principles is needed to develop new drugs which will be able to treat those people not respo ....Epilepsy is a disease which affects 2-4% of the population. There are a wide range of drugs available to treat the condition but there is consistently 30-40% of patients who do not respond well to any of these drugs and who continue to have seizures. The reason that there are no drugs available for these people is that most of the drugs available have been designed along the same principles. A new set of principles is needed to develop new drugs which will be able to treat those people not responding to current therapy. This project is designed to identify new biologic pathways which may be interrupted with drugs to prevent seizures in people with epilepsy. This project uses a procedure to induce mutations into genes in mice and then screens for mice which do not seize when challenged with a drug which generates seizures in mice. Genetic studies will identify the mutated genes and these will be used as potential targets for new therapies or will identify new biological pathway which should expand the use of future anti-epileptic drugs.Read moreRead less
Understanding the molecular mechanisms of intellectual disability. Intellectual disability is frequent in the population, with one in every fifty people in the world directly affected. This project will improve our understanding of the correct development and function of the brain required for cognition by investigating specific roles and regulation of key molecules involved.
Exploring genetic diversity to identify new heat tolerance genes in wheat. This project aims to improve the selection and development of heat-tolerant wheat varieties. Heatwaves seriously reduce wheat yields worldwide, and the situation will worsen with climate variation. This project aims to apply a broad genetic scan to identify the main chromosome regions controlling heat tolerance at the sensitive flowering stage in Australian and European wheat varieties. It is expected that this knowledge ....Exploring genetic diversity to identify new heat tolerance genes in wheat. This project aims to improve the selection and development of heat-tolerant wheat varieties. Heatwaves seriously reduce wheat yields worldwide, and the situation will worsen with climate variation. This project aims to apply a broad genetic scan to identify the main chromosome regions controlling heat tolerance at the sensitive flowering stage in Australian and European wheat varieties. It is expected that this knowledge will deliver crucial breeders’ tools to select heat-tolerant varieties. The project also aims to identify genes most likely to control tolerance at these chromosome locations using gene expression profiling data, trait associations and knowledge of heat-tolerance genes from other species. It is expected that these genes will reveal molecular mechanisms of heat tolerance and create new opportunities to engineer superior levels of tolerance in cereals.Read moreRead less
The Role Of UPF3B And Nonsense Mediated MRNA Decay Surveillance In The Pathology Of Intellectual Disability.
Funder
National Health and Medical Research Council
Funding Amount
$789,954.00
Summary
Proper functioning of the nonsense mediated mRNA decay (NMD or 'mRNA police') is crucial for any cell to ensure normal development and function. When NMD is compromised the outcome is learning and memory problems, autism or schizophrenia. Under this project we study malfunctioning NMD using stem and neuronal cells derived from patients' skin cells. Some of the affected genes might be considered for therapeutic interventions. NMD is relevant to 1000s of human disorders and as such it is of fundam ....Proper functioning of the nonsense mediated mRNA decay (NMD or 'mRNA police') is crucial for any cell to ensure normal development and function. When NMD is compromised the outcome is learning and memory problems, autism or schizophrenia. Under this project we study malfunctioning NMD using stem and neuronal cells derived from patients' skin cells. Some of the affected genes might be considered for therapeutic interventions. NMD is relevant to 1000s of human disorders and as such it is of fundamental importance.Read moreRead less
About one in eight known genetic disorders involve DNA alteration that activates a cellular quality control mechanism that disables the affected gene. This mechanism is more efficient in some individuals than others. It can influence disease outcomes and severity. We will engineer and apply tools and models to measure and manipulate this crucial cellular mechanism. This will allow us to predict disease severity as well as to intervene where a manipulation of this mechanism will be beneficial.
Identification Of Genes For X-linked Mental Retardation.
Funder
National Health and Medical Research Council
Funding Amount
$675,228.00
Summary
We propose to identify novel heritable causes of intellectual disability using 22 large and well-characterised families from Australia. In these families we have refined the location of the genetic defect to the chromosome X and excluded the contribution of all so far known genes. We will achieve this using the technology of massive parallel sequencing. At the completion of the project we will have identified novel causes of intellectual disability and devised tests to identify them.
Identifying the diversity and evolution of loci associated with adaptation to aridity/heat and salinity in ancient cereal crops. This project will use ancient grains of wheat, barley and rye to find 'lost' genetic diversity at key genes associated with resistance to aridity, salt and disease. This project will make the proteins of key genes, and study their interaction with the environment over time by measuring ions in the grains to reveal the ancient environmental conditions.
Genetic dissection of a regulatory deubiquitlyation network. The potential impact of this work is widespread, because although it is known that ubiquitlyation has regulatory consequences in multicellular eukaryotes, individual networks have not been completely described in higher eukaryotes. Knowledge gained about fundamental processes in the A. nidulans model system is directly applicable to fungi used in biotechnology in the food, beverage, enzyme and pharmaceutical production industries, and ....Genetic dissection of a regulatory deubiquitlyation network. The potential impact of this work is widespread, because although it is known that ubiquitlyation has regulatory consequences in multicellular eukaryotes, individual networks have not been completely described in higher eukaryotes. Knowledge gained about fundamental processes in the A. nidulans model system is directly applicable to fungi used in biotechnology in the food, beverage, enzyme and pharmaceutical production industries, and to fungal pathogens. Since the fungal genes that form the basis of this project are conserved in higher eukaryotes including humans, the knowledge will be transferable to these systems. A further benefit that cannot be overstated is the research education and training opportunities provided.
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Enhancing Genomic Prediction for Changing Environments in Wheat. Adverse weather is the primary risk faced by the Australian agriculture industry. This Project aims to develop the next generation of agriculture tools to unlock natural potential in wheat and improve yield stability across seasons and regions. Drawing on crop physiology, genetics and integrated modelling, this Project expects to generate new knowledge and technologies to untangle genetic and environmental interactions that affect ....Enhancing Genomic Prediction for Changing Environments in Wheat. Adverse weather is the primary risk faced by the Australian agriculture industry. This Project aims to develop the next generation of agriculture tools to unlock natural potential in wheat and improve yield stability across seasons and regions. Drawing on crop physiology, genetics and integrated modelling, this Project expects to generate new knowledge and technologies to untangle genetic and environmental interactions that affect productivity, enhance predictive capability, and initiate advanced breeding strategies to develop new crop varieties with superior resilience against changing climates. This should provide significant benefits, such as profit stability for wheat growers, elevated global market position and improved food security.Read moreRead less
Developing Zn-dense, high-yielding wheat by molecular marker technology. The objective of this project is to identify pathways leading to the accumulation of zinc — an important element for human nutrition — in wheat. The project aims to provide biochemical and molecular markers for breeding programs that will facilitate the selection of superior breeding lines for improved human nutrition and seed health. This project builds on studies using a wheat diversity panel with 90 000 gene-based single ....Developing Zn-dense, high-yielding wheat by molecular marker technology. The objective of this project is to identify pathways leading to the accumulation of zinc — an important element for human nutrition — in wheat. The project aims to provide biochemical and molecular markers for breeding programs that will facilitate the selection of superior breeding lines for improved human nutrition and seed health. This project builds on studies using a wheat diversity panel with 90 000 gene-based single nucleotide polymorphism (SNP) markers, where zinc–SNP associations were identified. The project also builds on recent studies that show particular metabolites and macronutrients around anthesis are linked to improved grain zinc concentration at maturity.Read moreRead less