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.
Cerebral Palsy is most common childhood physical disability. While the brain injury is static, disability can be progressive and lifelong. This fellowship aims to develop and test novel interventions to optimise neuroplasticity by improving early detection and physical, cognitive, psychological and health outcomes in children with CP. Earlier accurate detection of CP will ensure effective treatments utilise critical periods of brain development and are translated into evidence based guidelines.
Repetitive Transcranial Magnetic Stimulation Treatment Of Auditory Hallucinations In Psychotic Disorders: A Clinical And Neurobiological Investigation
Funder
National Health and Medical Research Council
Funding Amount
$314,644.00
Summary
This research will investigate a novel treatment, repetitive transcranial magnetic stimulation treatment, for auditory hallucinations of psychosis (e.g. schizophrenia). This work is novel as it will utilise an innovative and sophisticated method to optimise treatment at the individual level. Additionally, by identifying features of patients that predict response to treatment, this research will make major contributions to personalised treatment selection guidelines.
Developmental Vitamin D-deficiency And Autism; Exploration Of Potential Mechanisms And Refining Phenotype In An Animal Model
Funder
National Health and Medical Research Council
Funding Amount
$442,249.00
Summary
We have now shown in a large cross-sectional study that low levels of vitamin D during gestation increase the incidence of autism in children. When we model this risk-relationship in animals we show changes in important developmental processes and behaviours previously linked to autism in children. We now want to understand both the exact downstream molecular pathways affected in the developing brain along with the precise brain structural and behavioural abnormalities produced in offspring.
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.
Using musical training to examine brain plasticity and cognitive skill development. Until recently, the brain was likened to a computer - hard-wired with minimal response to injury. Exciting new research is altering this view, showing that the brain can change in response to the environment. This study will use sophisticated brain scanning techniques with musicians who have rare, absolute pitch ability. This ability develops with exposure to early training during a critical time period. We will ....Using musical training to examine brain plasticity and cognitive skill development. Until recently, the brain was likened to a computer - hard-wired with minimal response to injury. Exciting new research is altering this view, showing that the brain can change in response to the environment. This study will use sophisticated brain scanning techniques with musicians who have rare, absolute pitch ability. This ability develops with exposure to early training during a critical time period. We will test the relationship between this exposure and changes in brain shape and function. The results will tell us about the interaction between genes and environment, and the way normal development can be enhanced by early experiences.Read moreRead less