Dean's Open Lecture by Ingrid Scheffer скачать в хорошем качестве

Dean's Open Lecture by Ingrid Scheffer

Epilepsy genetics: the key to precision medicine Gene discovery in the epilepsies has transformed understanding of this severe group of diseases, paving the way for targeted therapies. Laureate Professor Ingrid Scheffer is a physician-scientist whose work as a paediatric neurologist and epileptologist at the University of Melbourne has led the field of epilepsy genetics over more than 20 years. Professor Scheffer’s major interests are in the genetics of the epilepsies, epilepsy syndromology and translational research. She was a co-recipient of the 2014 Prime Minister’s Prize for Science and she was awarded the Order of Australia in 2014. Professor Ingrid Scheffer’s visit to New Zealand is in partnership with the Royal Society of New Zealand. She will also deliver the 2016 RSNZ Distinguished Speaker Series. Epilepsy genetics: the key to precision medicine Gene discovery in the epilepsies has transformed understanding of the aetiology and biology of this severe group of diseases, paving the way for targeted therapies. Over the last 50 years, twin and family studies have shown that generalized epilepsies have a genetic basis, yet the majority of the focal and severe childhood epilepsies were considered acquired in origin. Since our collaborative group identified the first gene for epilepsy 21 years ago, there has been an explosion in the number of epilepsy genes known implicating ion channel, synaptic, growth control and regulatory proteins. The genetic findings have been paradigm-shifting as the severe epilepsies of infancy and childhood have been found to arise due to a new mutation in the affected child. Yet more recent studies suggest that parental mosaicism may be more frequent than previously thought with implications for reproductive counselling. Understanding the genetic basis of epilepsy informs diagnosis and assists with recognition of co-morbidities, optimisation of therapy and prognostic counselling. Excitingly, it sets the scene for the development of targeted therapy based on the physiological implications of a mutation. Implementation of precision medicine holds the promise of improving outcomes for the affected individual and their family.