(Sept. 29) “We hope that the identification of the role of these genes in epilepsies may provide more insight into the mechanisms underlying the disease and provide inspiration for innovative treatments.” So speaks Renzo Guerrini, Professor of Neuropsychiatry at the University of Florence and Director of the Department of Neurosciences of the University Hospital Meyer. Guerrini is one of the researchers involved in an essay published in the American Journal of Human Genetics. There is also a research from Florence, in fact, in the largest collaborative study ever made so far in the world to identify the genetic causes of severe childhood epilepsies: “It’s the result of a very innovative approach to the study of epilepsy, in particular those forms that despite having similar characteristics may be due to different genetic causes. The research – Guerrini explains – is the result of a strong collaboration between researchers in Europe, the USA and Australia.” The international team of researchers has found new genes, some of which – in the case of the Dynamin 1 – involved in the function of the synapse, which is the main structure of the nervous system that enables communication between neurons. The study was carried out by three international consortia, including Epi4K (Gene Discovery in Epilepsy), funded by the NIH (National Institutes of Health), and the two European consortia EPGP (Epilepsy Phenome / Genome Project) and EuroEPINOMICS (Functional Genomic Variation in the epilepsies), which include researchers from over 20 countries, and has assessed the role of genetic factors in the largest group of patients with severe epilepsy recruited in total. “This kind of approach – concludes convinced Guerrini – will give patients a better treatment.” (red)
