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.
Epilepsy and speech disorders are common diseases in the Australian population that have major genetic contributions. To improve clinical care I will study our unique set of patients with epilepsies or speech impairments. Discovery of genes will provide new information that will improve diagnosis, treatment and counselling of patients and their families. This will enhance long established Australian clinical and research expertise in epilepsy and speech disorders.
Massive Parallel Sequencing In The Genetics Of Epilepsy
Funder
National Health and Medical Research Council
Funding Amount
$451,716.00
Summary
Epilepsy is a serious disorder which affects approximately 2% of the population at some stage in their life and around 30% of patients do not gain adequate control of their seizures with medications presently available. Approximately 70% of epilepsy in inherited and so far the majority of the genetic causes are yet to be discovered. My group aims to identify new epilepsy genes. This leads to improved diagnosis, treatment and counseling for patients and increased understanding of the biological m ....Epilepsy is a serious disorder which affects approximately 2% of the population at some stage in their life and around 30% of patients do not gain adequate control of their seizures with medications presently available. Approximately 70% of epilepsy in inherited and so far the majority of the genetic causes are yet to be discovered. My group aims to identify new epilepsy genes. This leads to improved diagnosis, treatment and counseling for patients and increased understanding of the biological mechanisms underlying seizures.Read moreRead less
Long-term Outcomes After Paediatric Traumatic Brain Injury
Funder
National Health and Medical Research Council
Funding Amount
$431,000.00
Summary
Traumatic brain injuries during early childhood often result in long-lasting issues including social behaviour problems and post-traumatic epilepsy. Using a unique model of brain injury in young mice, my research aims to identify the biology underlying the changes that cause these issues, and evaluate novel approaches to improve long-term outcomes after brain injury.