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
Responsive Endovascular Neuromodulation: Detection And Suppression Of Epileptic Seizures
Funder
National Health and Medical Research Council
Funding Amount
$1,487,455.00
Summary
For millions of people with epilepsy, seizures can be debilitating and dangerous. Medical devices approved for seizure prevention require risky open-brain surgery and traumatic electrode insertion. The Stentrode can record and stimulate the brain from within a blood vessel. By optimising it for delivery into small vessels, designing software to detect seizures, and conducting chronic safety studies, I will create a tool that can detect and suppress epileptic seizures without the surgical risk.
I aim to understand the genetics of the epilepsies. Through detailed analysis of different types of epilepsy, and associated features such as intellectual disability and autism, I will describe new epilepsy syndromes, and together with gene discovery, implement novel targeted therapies. This translational program will transform clinical practice by informing diagnosis, prognostic and genetic counseling, and lead to targeted precision therapies to improve outcomes for each patient.
Genetics Of Epilepsy: Completing Our Understanding
Funder
National Health and Medical Research Council
Funding Amount
$3,000,000.00
Summary
Finding genetic causes of epilepsies is vital for accurate diagnosis and family counseling, to optimize current treatments and to develop novel therapies. We will leverage our large collection of carefully evaluated Australian cases with international data sets, coordinated by Consortia that I chair, to develop a detailed understanding of the genetic causes of epilepsy. This will transform the use of genetics in the clinic, lead to better immediate treatment and aid in developing novel therapies
Epilepsy affects over 65 million people worldwide and approximately 30% of sufferers do not respond to drugs. For these people, electrodes are placed in the brain to monitor brain activity and stop the initiation or progression of seizures. However, state-of-the-art devices require risky open-brain surgery. In this project, we are developing a Stentrode Neuro-Stimulator (SNS) for the treatment of drug-resistant epilepsy without the need for open-brain surgery.
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.