The Clinical Features, Causes And Diagnosis Of Severe Epilepsies Of Infancy: A Population-based Study
Funder
National Health and Medical Research Council
Funding Amount
$227,261.00
Summary
Severe epilepsies of infancy (SEI) are characterised by frequent seizures and are often resistant to treatment. The prognosis is typically poor. The cause is unknown in many infants. This study will identify genes and brain malformations causing SEI, determine the frequency and clinical features of each cause, and measure the diagnostic yield of genetic testing and brain imaging. The findings will improve timely diagnosis of SEI and guide research priorities for development of novel therapies.
Finding Clinical Predictors For The Underlying Pathology In Different Frontotemporal Dementia (FTD) Syndromes
Funder
National Health and Medical Research Council
Funding Amount
$136,593.00
Summary
Due to the ageing population in Australia it is predicted that the prevalence of dementia will increase four-fold by 2050. Developing disease-modifying therapies for dementia is therefore a priority, however we also need to be able to accurately identify patients for whom these therapies will be beneficial. Here we will develop strategies for identifying patients with particular protein abnormalities in their brain, the substrate of most therapeutic interventions.
Epileptic convulsions are common, disrupt social life and may occasionally cause death. They can occur spontaneously in individuals whose brains appear to be physically normal. Apart from the fact that epilepsy may run in families, the processes leading to spontaneous convulsions are not known. We measure the brain's electrical rhythms (EEG) to find out which rhythms are disturbed in people with epilepsy and whether these rhythms disrupt the brain to cause attacks. In preliminary studies in pati ....Epileptic convulsions are common, disrupt social life and may occasionally cause death. They can occur spontaneously in individuals whose brains appear to be physically normal. Apart from the fact that epilepsy may run in families, the processes leading to spontaneous convulsions are not known. We measure the brain's electrical rhythms (EEG) to find out which rhythms are disturbed in people with epilepsy and whether these rhythms disrupt the brain to cause attacks. In preliminary studies in patients with generalised epilepsy, we have identified abnormally strong rhythms that are almost certainly related to epilepsy causation and our studies are in part aimed at making our findings into a diagnostic test. Our findings may even enable individuals with epilepsy to test themselves for their immediate risk of seizure. Both of these outcomes should enable improved treatment for epilepsy. In addition to benefits in epilepsy, there are potential benefits in the diagnosis of cerebral degenerative disorders if changes in the rhythms also occur in these conditions.Read moreRead less
Integrated Analysis Of Genome, Epigenome, And Transcriptome Data In Schizophrenia
Funder
National Health and Medical Research Council
Funding Amount
$417,511.00
Summary
Schizophrenia is a severe psychiatric disorder with a diverse range of symptoms. While the cause is unknown, it is thought to develop from a combination of genetic, epigenetic and environmental risk factors. This study will use genome wide approaches to investigate the relationship between genetic/epigenetic modification of DNA and gene expression in schizophrenia. This study could provide an integrated understanding of the neuropathology of schizophrenia and ultimately lead to better treatment.