Strategies for Innovative Research to improve Diagnosis, Prevention and Treatment in Children with Difficult to Treat Epilepsy

Short Facts

DESIRE is an FP7 funded project (Grant Agreement no: 602531), involving 25 partners in 11 countries, with eight third parties, a total of 2166 person months, with more than 250 researchers involved and 19 clinical centres involved in the clinical trial.

DESIRE focuses 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 drug-resistant pediatric epilepsies carrying a lifelong perspective of disability and reduced quality of life.

Specific objectives of DESIRE are to advance the state of the art with respect to:

  • 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.
  • 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.
  • treatment of EDD using randomized, multidisciplinary clinical protocols and testing preclinical strategies in experimental models to also address novel preventative strategies.

Prof. Renzo Guerrini

Dipartimento di Neuroscienze
Area del Farmaco e Salute del Bambino (NEUROFARBA) Universita degli Studi di Firenze