My laboratory works on the genetics of epilepsy, and
aims to understand both the causes of epilepsy and the pharmacogenomics of
antiepileptic drugs. The methods are principally population genetics and studies
of nuclear families and
trios, complemented by deep phenotyping, including neuropathology, facial
morphometry, clinical neurophysiology (EEG and TMS), and neuroimaging. The
eventual aim is to translate such findings directly into personalised treatment.
We are already taking discoveries into early treatment options, based on mechanistic understanding of novel genetic discoveries, facilitated by the embedding of research into a clinical context. Much of the work takes place at the Epilepsy Society site in Chalfont, where the co-location of a highly-specialised clinical evaluation facility, state-of-the-art MRI, EEG and research laboratories allows patient-focussed exploration of the basis of epilepsy.
My work has contributed to genetic discoveries both at the population level (identifying the first association of a common focal epilepsy) and at the level of rare epilepsies (such as alternating hemiplegia of childhood, DOORS syndrome, Dravet Syndrome and other encephalopathies in adults), and traits in epilepsy such as SUDEP and photosensitivity. I lead a European FP7 Consortium on epilepsy pharmacogenomics (www.epipgx.eu), and work within other Consortia such as EuroEPINOMICS RES.
Role in the Synaptopathies InitiativeI collaborate on resolving the genetic structure of neurological diseases, with a focus on epilepsy, epilepsy pharmacogenomics and disease traits, and disorders of cortical development. Insights into the functional consequences of mutations help to refine clinical stratification of patients for translation into novel directed treatment options.