Epilepsy: Molecular Basis And Mechanisms In The Era Of Functional Genomics
Funder
National Health and Medical Research Council
Funding Amount
$12,062,533.00
Summary
The team comprises of neurologists with a special interest in epilepsy (both adult and child) molecular geneticists, physiologists and brain imaging specialists. The team leads the world in the discovery of the genetic causes of epilepsy and epilepsy associated with intellectual disability. The team will continue to identify the genes underlying epilepsy, and study how genetic variations result in the development of seizures and will continue to develop advanced imaging techniques for these stud ....The team comprises of neurologists with a special interest in epilepsy (both adult and child) molecular geneticists, physiologists and brain imaging specialists. The team leads the world in the discovery of the genetic causes of epilepsy and epilepsy associated with intellectual disability. The team will continue to identify the genes underlying epilepsy, and study how genetic variations result in the development of seizures and will continue to develop advanced imaging techniques for these studies. This will include extensive laboratory studies, including the development of mice with the exact mutations that we find in the human condition. Stateof-the-art imaging techniques with magnetic resonance and positron emission tomography are used in human subjects to further understand the effects of the mutations on the structure and function of the brain. This will allow deep understanding of how seizures develop and may lead to new diagnostic methods and treatments. The laboratory and clinical aspects of the research are tightly integrated in this internationally leading collaborative program.Read moreRead less
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.
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
Early African woodworking and tool use at the transition to modern humans. Our archaeological excavations and preliminary dating of Amanzi Springs (South Africa) to between 515,000 and 163,000 years ago shows that the site covers a critical time period that led to the origins of our species, Homo sapiens. Amanzi documents, in never before seen resolution, the technological leaps that our ancestors made during this transition. At ~400,000 years ago this includes the oldest evidence for woodworkin ....Early African woodworking and tool use at the transition to modern humans. Our archaeological excavations and preliminary dating of Amanzi Springs (South Africa) to between 515,000 and 163,000 years ago shows that the site covers a critical time period that led to the origins of our species, Homo sapiens. Amanzi documents, in never before seen resolution, the technological leaps that our ancestors made during this transition. At ~400,000 years ago this includes the oldest evidence for woodworking and tool use and >163,000 years ago the oldest heat treatment of rock to make stone tools. The organic preservation at the site means that we can reconstruct changing environment, linked to sea level changes and spring activity, for this period in the evolution of our ancestors at a level of detail not previously possibleRead moreRead less
Climate change and migration in China: theoretical, empirical and policy dimensions. This project will analyse the complex relationship between climate change and migration by focussing in depth on two areas in China anticipated being major hotspots of Climate change impact. It will provide insight into national and international policy development in Climate change mitigation and adaptations.
The Social Production of Science in Antarctica: A Study of Davis Station. Antarctica is a unique scientific laboratory. It is the only continent historically uninhabited by humans; access to its vast land and ice-scapes, and its surrounding oceans, is today almost exclusively reserved for scientists. Although these 'Antarcticans' represent multiple disciplines, and pursue a wide variety of research agendas, their shared experiences of working on the continent, and their shared professional netwo ....The Social Production of Science in Antarctica: A Study of Davis Station. Antarctica is a unique scientific laboratory. It is the only continent historically uninhabited by humans; access to its vast land and ice-scapes, and its surrounding oceans, is today almost exclusively reserved for scientists. Although these 'Antarcticans' represent multiple disciplines, and pursue a wide variety of research agendas, their shared experiences of working on the continent, and their shared professional networks, mean that they constitute a distinct community of practice. However, this community has yet to be subjected to detailed ethnographic enquiry. This project aims to examine Antarctic scientists' research practices, and their cultures of knowledge production, through an ethnographic study of Australia's Davis Station.Read moreRead less
Building Australia's next-generation ocean-sea ice model. Ocean and sea ice models are used for predicting future ocean and climate states, and for climate process research. This project aims to bring the next generation of ocean-sea ice models to Australia and configure the models for our local priorities. The ultimate goal is to create a new coupled ocean-sea ice model for Australia that includes surface waves and biogeochemistry. The model will be optimised and evaluated on Australian facilit ....Building Australia's next-generation ocean-sea ice model. Ocean and sea ice models are used for predicting future ocean and climate states, and for climate process research. This project aims to bring the next generation of ocean-sea ice models to Australia and configure the models for our local priorities. The ultimate goal is to create a new coupled ocean-sea ice model for Australia that includes surface waves and biogeochemistry. The model will be optimised and evaluated on Australian facilities, and released for community use. These developments underpin future ocean state forecasts, sea ice forecasts, wave forecasts, decadal climate prediction and climate process studies. The project will benefit search and rescue, Defence and shipping operations, and will enhance future climate projections.Read moreRead less
Safeguarding coral reef fisheries for future food security. This Fellowship aims to address the vulnerability of coral reef fisheries in Australia and the Indo-Pacific by identifying fishery targets that benefit human nutrition and will persist despite declining coral habitats and rising water temperature. This project will advance knowledge on coral and fish responses to increasingly frequent marine heatwaves, using novel methodologies rooted in ecological modelling, experimental marine biology ....Safeguarding coral reef fisheries for future food security. This Fellowship aims to address the vulnerability of coral reef fisheries in Australia and the Indo-Pacific by identifying fishery targets that benefit human nutrition and will persist despite declining coral habitats and rising water temperature. This project will advance knowledge on coral and fish responses to increasingly frequent marine heatwaves, using novel methodologies rooted in ecological modelling, experimental marine biology and climate forecasting. Expected outcomes include (i) a comprehensive toolbox for improved management of coral reefs and associated fisheries in Australia and beyond, and (ii) an integrated socio-ecological model for predicting coral reef fishery responses under environmental change.Read moreRead less
Early desert settlement of Arabia following out-of-Africa human dispersals. This project aims to improve our understanding of the nature, timing and climatic context of early human expansion into SW Asia, from a new extensive archaeological complex with associated palaeoenvironmental sequences on the Arabian Peninsula – a strategic out-of-Africa migratory corridor. It will combine innovative approaches in archaeology, geochronology and palaeoenvironmental research to evaluate the environmental a ....Early desert settlement of Arabia following out-of-Africa human dispersals. This project aims to improve our understanding of the nature, timing and climatic context of early human expansion into SW Asia, from a new extensive archaeological complex with associated palaeoenvironmental sequences on the Arabian Peninsula – a strategic out-of-Africa migratory corridor. It will combine innovative approaches in archaeology, geochronology and palaeoenvironmental research to evaluate the environmental and cultural adaptability of early desert settlement, providing critical new insights into globally significant human dispersal debates spanning multiple continents, including Australia. The aim is a fundamental new perspective on long-term human occupation dynamics of deserts and new understanding of regional dispersals.Read moreRead less
Identifying The Critical Pathways Which Regulate Vertebrate Craniofacial Development
Funder
National Health and Medical Research Council
Funding Amount
$552,131.00
Summary
Understanding the genes which underlie human birth defects is of immense clinical importance. Our laboratory is a world-leader investigating a gene responsible for facial skeleton development, Grhl2. With our wide range of models, we will discover how Grhl2 works to ensure the face and skull develop properly during birth.