Common Susceptibility Genes Underlying The Idiopathic Generalized Epilepsies (IGE) - A Genome-wide Scanning Approach
Funder
National Health and Medical Research Council
Funding Amount
$212,063.00
Summary
Epilepsy is the most common serious brain condition. Seizures affect about 10% of people at some time in their life and their consequences are an important public health problem. The most common group of inherited epilepsies account for about 30% of childhood epilepsy and 20% of adult epilepsy. This study will be the first in Australia and one of only a few worldwide to take a population-based approach to investigating the link between epilepsy and genetic inheritance.
Neurosciences: Cross-Discipline Enhancement Of Clinical Research & Education
Funder
National Health and Medical Research Council
Funding Amount
$2,000,000.00
Summary
This Centre has developed an innovative multidisciplinary model for hospital based clinical research into the common public health problems of stroke and epilepsy. This comprises: research into mechanisms, outcome and rehabilitation of stroke and epilepsy, teaching research skills, career development, and external assessment. Clinicians, researchers and students from medicine, nursing, allied health will be involved. This approach will enhance wider dissemination of research into the community a ....This Centre has developed an innovative multidisciplinary model for hospital based clinical research into the common public health problems of stroke and epilepsy. This comprises: research into mechanisms, outcome and rehabilitation of stroke and epilepsy, teaching research skills, career development, and external assessment. Clinicians, researchers and students from medicine, nursing, allied health will be involved. This approach will enhance wider dissemination of research into the community and may provide a model for other clinical research programs.Read moreRead less
Epilepsy is a common disease in the Australian population affecting 3 percent of individuals. It incurs lifelong medical, social and educational costs, and in some cases can be fatal. It is a large burden on public healthcare in Australia. Focal epilepsies are the most common type of seizure that arise from specific parts of the brain. This study has two aims and a future strategy relevant to gene discovery and clinical testing for focal epilepsy.
Unravelling The Genetics Of The Common Epilepsies Using Discordant Monozygotic Twins
Funder
National Health and Medical Research Council
Funding Amount
$673,778.00
Summary
Epilepsy is a common disease in the Australian population affecting 3% of individuals that has a significant genetic contribution. To improve patient care we will study a unique set of identical twins discordant for different types of common genetic epilepsies. Identification of novel genes involved in common epilepsies will provide information relevant to prognosis, recurrence risks and treatment options for patients and their families. It will enhance long established Australian clinical and r ....Epilepsy is a common disease in the Australian population affecting 3% of individuals that has a significant genetic contribution. To improve patient care we will study a unique set of identical twins discordant for different types of common genetic epilepsies. Identification of novel genes involved in common epilepsies will provide information relevant to prognosis, recurrence risks and treatment options for patients and their families. It will enhance long established Australian clinical and research expertise in epilepsy.Read moreRead less
Morphological And Spectroscopic Study Of Monozygotic Twins Discordant For Epilepsy
Funder
National Health and Medical Research Council
Funding Amount
$139,079.00
Summary
Understanding the causes of epilepsies is essential for treatment and prevention. In many people with epilepsy the cause is not obvious and is frequently attributed to events at birth or minor head injuries. It is clear that these factors are generally not important. There is increasing evidence that subtle changes in brain structure, reflecting developmental or maturational abnormalities, may be the cause of these epilepsies. Such subtle changes can be detected by novel magnetic resonance imagi ....Understanding the causes of epilepsies is essential for treatment and prevention. In many people with epilepsy the cause is not obvious and is frequently attributed to events at birth or minor head injuries. It is clear that these factors are generally not important. There is increasing evidence that subtle changes in brain structure, reflecting developmental or maturational abnormalities, may be the cause of these epilepsies. Such subtle changes can be detected by novel magnetic resonance imaging strategies. However, due to individual differences of brain morphology, the significance of such subtle changes can be disputed. Monozygotic twins have an increased similarity of their brain morphology. Therefore, analysis of monozygotic twins where only one twin is affected with epilepy, is a powerful way to characterize significant brain abnormalities. This will provide novel information on the causes of epilepsy relevant to the general population.Read moreRead less
Detection Of Somatic Mutations In Sporadic Epilepsies
Funder
National Health and Medical Research Council
Funding Amount
$1,256,166.00
Summary
Finding genetic causes of epilepsies is essential for refining treatments and genetic counseling. Genetic mutations may occur after fertilization (somatic mutations). These can be difficult to detect by routine genetic tests. We aim to identify somatic mutations by: very deep sequencing of blood to find low concentrations of mutations, analysing DNA from the cerebrospinal fluid, and analysing DNA obtained from the back of the nose which is closely related to brain tissue.
Integrating Population Genetics, In Silico And Functional Data To Enable Precision Medicine In The Epilepsies
Funder
National Health and Medical Research Council
Funding Amount
$425,048.00
Summary
Epilepsy has proven to be a very genetically tractable neurological disorder. However, while we now routinely identify causal mutations in out patient populations, the process of understanding which are contributing versus which are benign background variation becomes critical as we move towards a period where precision medicine is becoming a reality for some patients. This work will focus on bringing together multiple levels of data to explore integrated models of predicting epilepsy variants.