Development of Epilepsy – Strategies for Innovative Research to improve diagnosis, prevention and treatment in children with difficult to treat Epilepsy
DESIRE will focus on epileptogenic developmental disorders (EDD), i.e. early onset epilepsies whose origin is closely related to developmental brain processes. A major cause of EDD are malformations of cortical development (MCD), either macroscopic or subtle. EDD are often manifested as epileptic encephalopathies (EE), i.e. conditions in which epileptic activity itself may contribute to severe cognitive and behavioral impairments. EDD are the most frequent drugresistant pediatric epilepsies carrying a lifelong perspective of disability and reduced quality of life. Although EDD collectively represent a major medical and socio-economic burden, their molecular diagnosis, pathogenic mechanisms (PM) and rationale treatment are poorly understood.
Specific objectives of DESIRE are to advance the state of the art with respect to:
1. the genetic and epigenetic causes and PM of EDD, particularly epileptogenic MCD, to elucidate molecular networks and disrupted protein complexes and search for common bases for these apparently heterogeneous disorders.
2. the diagnostic tools (biomarkers) and protocols through the study of a unique and well-characterized cohort of children to provide standardized diagnosis for patient stratification and research across Europe.
3. treatment of EDD using randomized, multidisciplinary clinical protocols and testing preclinical strategies in experimental models to also address novel preventative strategies.
Consortium: 26 partners from 11 countries
Coordinator of the project: Department of Neuroscienze, Psicologia, Area del farmaco e salute del bambino, Università degli Studi di Firenze – Italy
Funding programme: FP7-HEALTH
Project start: October 2013
End date for the project: 30 September 2018
For more information go to the website www.epilepsydesireproject.eu