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.
The Identification Of New Epilepsy Genes By Whole Genome Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$1,069,803.00
Summary
Epilepsy is a common brain disorder affecting approximately 50 million people worldwide. The most common type of epilepsy is known as focal epilepsy. Our group has recently shown the importance of genetic mutations as causes of focal epilepsy. Using modern genomic technologies we will identify new genes in focal epilepsy. We will make animal models of these genes to better understand the pathobiology of epilepsy so that new treatments can be developed for patients.
Whole Genome Pharmacogenomics Study Of Susceptibility Of Birth Defects In Children Born To Mothers Taking Anti-Epileptic Drugs
Funder
National Health and Medical Research Council
Funding Amount
$663,160.00
Summary
This project will investigate for genes that determine why certain women have an increased risk of having a baby with a birth defect if they become pregnant while being treated with a medication for epilepsy. Subjects will be recruited from the Australian Pregnancy Register, the findings validated using subjects from the UK Epilepsy and Pregnancy Register. The study will comprehensively examine for both common and rare changes in genes across the entire human genome.
Using Next-generation Sequencing Technology To Identify Genetic Determinants Of Epilepsy And Sporadic Epilepsy Prognosis
Funder
National Health and Medical Research Council
Funding Amount
$322,282.00
Summary
Recent advances in high-throughput, next-generation, DNA sequencing allows biologists to simultaneously analyse the differences in thousands of different genes across affected and unaffected individuals. However, it produces an overwhelming amount of data and making sense of this deluge of data is a current challenge. Overcoming this challenge will enable scientific discoveries of pathogenic variants of disease, potentially providing an opportunity for targeted drug development.