Understanding molecular causes of epilepsy

About the Project

Epilepsy affects around 50 million people worldwide. Despite improvements in epilepsy diagnosis and treatment, about a third of patient with epilepsy remain with their seizures uncontrolled by current treatment. These patients live with drug-resistant epilepsy, which carries a high burden on quality of life and higher risk of sudden unexpected death of epilepsy (SUDEP).

A large proportion of drug-resistant epilepsy is genetic by nature. Our laboratory is interested in molecular mechanisms underlying drug-resistant epilepsy. There is a significant overlap within this molecular machinery with neurometabolism and neuroinflammation - our group is aware of at least 600 distinct metabolic epilepsies. We take a holistic approach to understand this molecular machinery; from a genetic and molecular level through to neurobiology and synaptic physiology.

We are interested to recruit students to work across different genetic form of epilepsy. Our current focus are genes like DHDDS, NUS1, CRELD1, CASK, and others (for other interests, see https://www.chanlab.co.uk/services). We work with patient-derived cells that carry bespoke mutations associated with drug-resistant epilepsy. We also use induced pluripotent stem cell (iPSC) model to understand neurobiological mechanisms associated with epilepsy. In our molecular profiling, we use gene-editing tools like si-RNA and/or CRISPR-Cas9 to modulate gene expression level. For metabolic profiling, tools like Seahorse XF Flux Analyser and targeted metabolic profiling is used. Finally, to model seizure phenotype, we use Drosophila and/or ex vivo brain slice model to study genetic epilepsies.

We are very interested in partnering with you to develop a project that blends your research interests and methodology with our epilepsy research interests. We also work with patient advocacy group globally and champion incorporation of patient input into our biomedical science research. If you are interested in joining a dynamic epilepsy research lab and make a significant discovery in this field, please do get in touch informally with Dr. Chan at f.chan@bham.ac.uk