Epilepsy is the name of a group of disorders where seizures occur. 5% of people will have at least one seizure. Seizures accompanied by fever (febrile) are common in early childhood. Most forms of epilepsy and febrile seizures have an inherited component. Progress in finding genes for common forms of epilepsy has been slow, probably because they are due to the interaction of a number of genes. Four genes for rare epilepsies with single gene inheritance have been identified. These genes code for ....Epilepsy is the name of a group of disorders where seizures occur. 5% of people will have at least one seizure. Seizures accompanied by fever (febrile) are common in early childhood. Most forms of epilepsy and febrile seizures have an inherited component. Progress in finding genes for common forms of epilepsy has been slow, probably because they are due to the interaction of a number of genes. Four genes for rare epilepsies with single gene inheritance have been identified. These genes code for subunits of ion channels in cells. We study families where many individuals have seizures and carefully diagnose the seizures types. This work has resulted in the description of 5 new inherited epilepsies and led to discovery of 3 of the 4 known genes. The most important new inherited epilepsy is Generalized Epilepsy with Febrile Seizures Plus (GEFS+). GEFS+ accounts for many children with febrile seizures restricted to early childhood, or where seizures continue into mid-childhood. GEFS+ families may contain an individual with severe generalized epilepsy with intellectual disability. In a Tasmanian family with GEFS+, we found a gene defect in the sodium channel of nerve cells in the brain. We plan to study more families with GEFS+. We believe that specific severe childhood epilepsies may occur in families with GEFS+. If so, then the underlying cause of these serious disorders may be gene defects of GEFS+. Finding such genes will help to understand the basis of seizures and ultimately lead to targeted therapies. The second major focus of our work on GEFS+ is to use family studies to understand how different types of seizures are inherited, and to gain insights into the gene interactions underlying common epilepsies. We plan to study isolated cases of GEFS+ for the gene defects found in families. This strategy will reveal whether the same genes are important in the genetics of the common epilepsies.Read moreRead less
Assessing a model of the physiological changes at arousal from sleep. Arousals from sleep are common in the elderly and have adverse consequences. This project will investigate a model of the changes in bodily processes (muscle, brain and cardiovascular activation) that occur when humans awaken from sleep.
Increasing the utility of tetanus toxins by protein engineering. There are a variety of common diseases that are the result of muscular defects. Some of these may be able to be treated with an agent that increases muscle tone, thereby giving benefit to the patient in the alleviation of symptoms. This project aims to use some of the most potent substances known, bacterial toxins, and engineer them to be valuable agents for treatment of certain muscular disorders.
The biology, structure and function of bacterial virulence effectors. This project is closely aligned with the National Research Priority of Promoting and Maintaining Good Health and will establish a research framework to investigate novel virulence processes that allow bacterial pathogens to infect humans and cause disease. This fresh approach to the study of bacterial pathogenesis will sit outside classic genetic methods to investigate infection and immunity which rely heavily on genetic manip ....The biology, structure and function of bacterial virulence effectors. This project is closely aligned with the National Research Priority of Promoting and Maintaining Good Health and will establish a research framework to investigate novel virulence processes that allow bacterial pathogens to infect humans and cause disease. This fresh approach to the study of bacterial pathogenesis will sit outside classic genetic methods to investigate infection and immunity which rely heavily on genetic manipulation of the pathogen. Other than providing fundamental information on host-pathogen interactions, this work may lead to novel disease interventions by inhibition of bacterial virulence factor activity and/or enhancement of host inflammatory and immune responses.Read moreRead less
Understanding the biology of reactive oxygen species. This project will utilise forefront technologies to identify and characterise fundamental biological processes involving toxic free radicals that cause infectious disease and cancer. The approach synergises with researchers across disciplines and universities to ultimately identify future drugs to improve and maintain health.
The Role Of IL-18 In Proliferative And Crescentic Glomerulonephritis
Funder
National Health and Medical Research Council
Funding Amount
$56,177.00
Summary
Inflammation of the small filters with the kidneys, known as glomerulonephritis, is the commonest cause of kidney failure in Australia. People whose kidneys have failed need either kidney dialysis or a kidney transplant. Our understanding of the immune events that cause glomerulonephritis is patchy. However, it is known that T cells are the directors of immune responses in the body and direct the immune response in glomerulonephritis. Chemical messengers known as cytokines direct the way T cells ....Inflammation of the small filters with the kidneys, known as glomerulonephritis, is the commonest cause of kidney failure in Australia. People whose kidneys have failed need either kidney dialysis or a kidney transplant. Our understanding of the immune events that cause glomerulonephritis is patchy. However, it is known that T cells are the directors of immune responses in the body and direct the immune response in glomerulonephritis. Chemical messengers known as cytokines direct the way T cells behave. One of these cytokines, known as interleukin-18, has been shown to stimulate T cells and other immune cells to induce inflammation that is helpful when the body is fighting infection but is harmful in immune diseases. This project will determine the role of interleukin-18 in glomerulonephritis by studying the way it talks to T cells and the mechanisms by which it incites inflammation in the kidney. Mice with glomerulonephritis will be treated by blocking the actions of interleukin-18 to discover whether interleukin-18 produced by the animal is important in kidney damage induced by glomerulonephritis, to understand the way in which this cytokine works and to assess whether blocking interleukin-18 could be a useful treatment for glomerulonephritis in humans. Current treatments for glomerulonephritis are often ineffective and have unwanted side effects. Knowledge of the way interleukin-18 participates in the immune response in glomerulonephritis may lead directly or indirectly to more effective and more targeted treatments for different forms of glomerulonephritis.Read moreRead less
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0989920
Funder
Australian Research Council
Funding Amount
$750,000.00
Summary
Microbial and Cellular Imaging and Analysis Facility. The Microbial and Cellular Imaging and Analysis Facility will rapidly establish itself as one of Australia's premier science facilities. It will provide the capacity to investigate the structure and molecular dynamics of viruses and microbial, human, animal and plant cells with unprecedented high resolution in both pure and applied research settings, guided by Australia's leading experts in many research strengths. This facility addresses a c ....Microbial and Cellular Imaging and Analysis Facility. The Microbial and Cellular Imaging and Analysis Facility will rapidly establish itself as one of Australia's premier science facilities. It will provide the capacity to investigate the structure and molecular dynamics of viruses and microbial, human, animal and plant cells with unprecedented high resolution in both pure and applied research settings, guided by Australia's leading experts in many research strengths. This facility addresses a current unmet need for scientists in this country and will provide cutting-edge technologies to Australian researchers so they can better detect, understand, and treat human, animal and plant diseases and the environmental impact of climate change.Read moreRead less
Shaping the heart in early development - new insights into cellular modelling processes. Heart health is an important contributor to quality of life and longevity. This research will provide new insights into the way hormonal influences early in development shape a healthy heart. The project builds on the application of recently patented, sophisticated cell imaging techniques. Research students and trainees recruited to this project will benefit from their involvement with this leading edge tech ....Shaping the heart in early development - new insights into cellular modelling processes. Heart health is an important contributor to quality of life and longevity. This research will provide new insights into the way hormonal influences early in development shape a healthy heart. The project builds on the application of recently patented, sophisticated cell imaging techniques. Research students and trainees recruited to this project will benefit from their involvement with this leading edge technology. These studies are important in providing a basis for developing optimal management strategies for congenital heart conditions and preterm infants. Improved knowledge of the cardiac effects of fetal and neonatal exposure to steroids (to assist with lung maturation in prematurity or to control maternal asthma) will be gained.Read moreRead less
Measurement and Prediction of Vulnerable Plaque Formation and Rupture. The major health problem of atherosclerosis, leading to large numbers of deaths from heart attacks and strokes worldwide, will be studied by a multidisciplinary team. Better understanding of how the disease evolves and its earlier detection will arise from this project, which will use synchrotron imaging and supercomputer prediction.
The balance between cellular survival and death must be tightly regulated. Cells respond to viral infection by self-destructing, thus limiting viral spread to other cells. Viruses have evolved ways to subvert this defensive cell suicide. This project will define and characterise viral factors that maintain host cell survival during infection. These may be targets for the development of new anti-viral therapies and vaccines.