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
Synchrotron X-ray Assessment Of Airway Surface Physiology For Cystic Fibrosis
Funder
National Health and Medical Research Council
Funding Amount
$778,228.00
Summary
We seek a cure or long-lasting therapy for the fatal airway disease in cystic fibrosis. Disease is caused by a shallow and dehydrated airway surface liquid (ASL), allowing bacteria to infect the lung. We can introduce a corrective gene into mouse airways where it can be effective for over 1 yr, but no fast, accurate and non-invasive measurement exists to test if treatments are successful. We will develop methods using synchrotron light to directly measure ASL depth changes in live mouse airways.
Identification Of The Conformation Dependant Targets Of Autoimmune Disease Linked Variation In Human Regulatory T Cells
Funder
National Health and Medical Research Council
Funding Amount
$1,001,815.00
Summary
Specialised immune cells called regulatory T cells act as the policemen of the immune system, preventing the immune system attacking itself, but still fighting infections. If these cells do not work properly, autoimmune diseases such as type 1 diabetes or IBD can arise, because of immune attack on normal body tissue by mistake. In order to explain how this goes wrong we need to carefully identify all of the gene interactions in these cells including interactions over long distances in the DNA.
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.
I am a molecular geneticist with a main research focus in the identification and characterisation of genes and molecular pathways involved in intellectual disability and epilepsy.
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
Investigating The Role Of The UPF3B Gene And Nonsense Mediated RNA Decay (NMD) Process In Mental Retardation.
Funder
National Health and Medical Research Council
Funding Amount
$572,710.00
Summary
Intellectual disability is a frequent and important medical problem. Genetic and environmental factors contribute about equally to the aetiology of intellectual disability. Estimated 1-3% of population suffer from a form of intellectual disability. Among the genetic factors contributing to intellectual disability are genes, and their mutations, on one of the human chromosomes, chromosome X. We have been studying human X-chromosome genes for many years and discovered in excess of 20 novel genes c ....Intellectual disability is a frequent and important medical problem. Genetic and environmental factors contribute about equally to the aetiology of intellectual disability. Estimated 1-3% of population suffer from a form of intellectual disability. Among the genetic factors contributing to intellectual disability are genes, and their mutations, on one of the human chromosomes, chromosome X. We have been studying human X-chromosome genes for many years and discovered in excess of 20 novel genes causing various forms of intellectual disability. Surprisingly the number of genes, in which mutations cause various forms of intellectual disability is unexpectedly high. Just on the human X-chromosome we expect in excess of 200 such genes, which is nearly 30% of the gene content of this chromosome. We propose to study a novel gene, UPF3B, we recently identified to be mutated in a form of intellectual disability. The normal function of this gene and its protein is known to a certain extent. The UPF3B protein plays a role of a guardian of other genes in human (and also other species) cells. The role of the UPF3B protein is to prevent erroneous genetic information to be used for the building of proteins with potentially toxic effects to the organism. In our patients this process clearly malfunctions as a consequence of the damaged UPF3B gene. We propose to shed some more light in to the molecular intricacies of this process with the aim to better understand the mechanics of the process. Families, which participate in our studies and have this gene involved will benefit from the availability of direct test. Multiple other families around the world are also likely to benefit, now or in the future.Read moreRead less