Epilepsy is a debilitating brain disease that afflicts 10 percent of the population at some stage. Three percent of the world’s population is currently diagnosed with epilepsy. Anti-epileptic drugs have significant shortcomings and almost a third of patients are unable to achieve adequate seizure control. At present, surgery is the main recourse for these patients, who often live for 10 or more years with untreatable epilepsy prior to surgical intervention. New therapeutics are urgently needed to not only treat patients that don’t respond to current anti-epileptic drugs but to also reduce the serious side effects of these medications.
Our laboratory has taken the approach that novel opportunities for therapeutic intervention will arise by; 1) the creation of syndrome-specific epilepsy models based on human genetic lesions and; 2) a detailed analysis of the fundamental mechanisms that underlie disease genesis and progression in these models.
To achieve these goals we employ a multidisciplinary approach that combines molecular biology, biophysics, computer modelling, single cell and brain slice electrophysiology, macro and micro histological digital imaging, EEG, unit recording and in vivo patch clamp in brains and behavioural analysis of mice. By studying the effects of epilepsy gene mutations at several levels of functional organisation, we can validate our models against the human conditions and then delve into the mechanisms of seizure genesis. We have strong commercial links so that discoveries in the lab can more readily benefit patients.
National Imaging Facility