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Investigating the role of genetic variants in drug-resistant epilepsy

Each year 4.6 million people worldwide develop epilepsy, making it one of the most common chronic neurological diseases. Seizures can be controlled by antiepileptic drugs (AEDs) but unfortunately around a third of patients do not respond to these medications. Those that continue to have seizures despite treatment with various AEDs are considered to have refractory epilepsy. Rapid diagnosis and treatment can prevent the adverse biological effects of seizures such as brain damage, improve quality of life and ensure the safety of those affected. The clinical characteristics and the type of epilepsy alone are not sufficient to determine how a patient might respond to AEDs. Early identification of refractory epilepsy is thus critical, but remains challenging for clinicians. Our research investigates the role of genetic variants in the epilepsies. We aim to understand how variants might contribute to seizure development, the risk of adverse reactions to AEDs and refractory epilepsy. Our team has been involved in the identification of genetic markers that are currently recognised by the US Food and Drug Administration (FDA) for identification of patients at risk of severe reaction to AEDs. Our current focus is to gain insight into how multiple genetic variants might disrupt common biological mechanisms, or work in combination, to modify drug-response pathways in people with epilepsy. Project: To undertake pathway enrichment analysis of genotype and whole genome data to a) characterise the variant spectra in people with refractory epilepsy, and b) determine if specific combinations of non-coding variants are associated with drug-resistance.  Skills: The student will learn basic bioinformatic skills, including scripting in R software, genomic analysis and also gain experience in working with large data sets on remote high-performance computing facilities.
Essential criteria: 
Minimum entry requirements can be found here:
Epilepsy, Refractory, Bioinformatics
Central Clinical School » Neuroscience
Available options 
Masters by coursework
Time commitment 
Physical location 
Alfred Research Alliance
Terence O'Brien
Patrick Kwan
Alison Anderson

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