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
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
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.
The biology and epidemiology of the grapevine canker fungi, Botryosphaeria sp. Decline and dieback of grapevines is becoming an increasing problem for the viticulture industry in NSW. Recently, species of the fungus Botryosphaeria, were isolated from grapevines exhibiting these symptoms. In order to understand the biology and epidemiology of the causal organisms, we aim to; (i) determine species of Botryosphaeria present in NSW vineyards; (ii) determine which species are pathogenic on grapevines ....The biology and epidemiology of the grapevine canker fungi, Botryosphaeria sp. Decline and dieback of grapevines is becoming an increasing problem for the viticulture industry in NSW. Recently, species of the fungus Botryosphaeria, were isolated from grapevines exhibiting these symptoms. In order to understand the biology and epidemiology of the causal organisms, we aim to; (i) determine species of Botryosphaeria present in NSW vineyards; (ii) determine which species are pathogenic on grapevines; (iii) characterise the genetic diversity of strains and; (iv) screen fungicides for the control of these fungi. Information on the species, their biology and pathogenicity on grapevines, will enable the development of appropriate management strategies for its control and may lead to the development of molecular tools to identify species of Botryosphaeria.Read moreRead less
Refining the timescale of human evolution and dispersal using ancient DNA. Understanding the timescale of human evolution and migration is a key goal of genetic analysis. It provides the foundation for studying our evolutionary and demographic history, our relationships to other hominids and our impact on the natural world. This project aims to use ancient DNA data to improve estimates of our evolutionary timescale.
Discovery Early Career Researcher Award - Grant ID: DE180100883
Funder
Australian Research Council
Funding Amount
$365,058.00
Summary
Palaeo-population genomics: studying adaptation using ancient human DNA. This project aims to apply state-of-the-art population and quantitative genetic techniques to a powerful new database of ancient human genomes - spanning from hunter gatherers and early farmers through to the Middle Ages. This will be used to build the first detailed portrait of human genetic adaptation through time. This record will capture the major socio-cultural transitions in human history, and reveal the genetic and e ....Palaeo-population genomics: studying adaptation using ancient human DNA. This project aims to apply state-of-the-art population and quantitative genetic techniques to a powerful new database of ancient human genomes - spanning from hunter gatherers and early farmers through to the Middle Ages. This will be used to build the first detailed portrait of human genetic adaptation through time. This record will capture the major socio-cultural transitions in human history, and reveal the genetic and environmental drivers that have shaped modern human genetic diversity and pathology.Read moreRead less
Defining New Building Blocks for the Construction of Artificial Genetic Circuits. By characterising the components of a natural genetic switch, we will make available a set of well defined genetic building blocks for construction of rationally designed biological circuits. The ability to build such circuits would have significant economic benefit in areas such as metabolic engineering, to improve the efficiency of production of natural compounds from micro-organisms, and in biomedicine, for the ....Defining New Building Blocks for the Construction of Artificial Genetic Circuits. By characterising the components of a natural genetic switch, we will make available a set of well defined genetic building blocks for construction of rationally designed biological circuits. The ability to build such circuits would have significant economic benefit in areas such as metabolic engineering, to improve the efficiency of production of natural compounds from micro-organisms, and in biomedicine, for the controlled release of therapeutic compounds. The involvement of Honours and Ph.D students in this project will expose the next generation of Australian scientists to this emerging discipline. International collaboration leading to publications in high impact scientific journals will enhance Australia's scientific reputation.Read moreRead less
Hippo signalling control of transcription in lymphatic vascular development. Lymphatic vasculature forms complex, branched networks present in almost all vertebrate tissues and organs. Signalling in lymphatic endothelial cells determines the fate, structure and function of these complex and essential networks. This project follows our recent discovery of a major role for the Hippo signalling pathway in lymphatic vascular development. It aims to investigate how Hippo signalling regulates essenti ....Hippo signalling control of transcription in lymphatic vascular development. Lymphatic vasculature forms complex, branched networks present in almost all vertebrate tissues and organs. Signalling in lymphatic endothelial cells determines the fate, structure and function of these complex and essential networks. This project follows our recent discovery of a major role for the Hippo signalling pathway in lymphatic vascular development. It aims to investigate how Hippo signalling regulates essential target genes that drive lymphatic development. The project expects to generate fundamental knowledge in vascular signalling, transcription and the control of vascular network growth and expansion. Outcomes may provide significant benefits in new approaches in stem cell biology, tissue engineering and regenerative biology. Read moreRead less
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.