DESIRE

DEVELOPMENT AND EPILEPSY - STRATEGIES FOR INNOVATIVE RESEARCH TO IMPROVE DIAGNOSIS, PREVENTION AND TREATMENT IN CHILDREN WITH DIFFICULT TO TREAT EPILEPSY

Reference: 602531

Call: FP7-HEALTH-2013-INNOVATION-1

Theme: health

Scientist: Alessandra Murgia

Department: Women’s and Children’s Health

UNIPD: participant

Total cost: 16,451,004 €

Eu Funding: 11,995,646 €

Email: alessandra.murgia@unipd.it

Project Description

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 behavioural impairments. EDD are the most frequent drug-resistant 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. The workplan spans from clinical observation, to whole exome studies, cellular and animal models and basic research, identification of biomarkers and improvement of diagnostic methods, and back to the clinical trials and assessment of innovative, targeted treatment strategies. The consortium partners have an outstanding track record in genetics, basic neurophysiology, neuropathology and clinical research. Specialized expertise will be made available by the SMEs involved to develop novel diagnostic tools for tailored treatment approaches. 

Partners

Coordinator: Università degli Studi di Firenze

Participants: Fondazione Istituto Italiano di Tecnologia, Agencia Estatal Consejo Superior de Investigaciones Cientificas, Institut National de la Santé et de la Recherche Medicale (Inserm), Christian-Albrechts-Universitaet zu Kiel, Universite Libre de Bruxelles, University College London, King’s College London, Cf Consulting Finanziamenti Unione Europea Srl, Charite - Universitätsmedizin Berlin, Universita Ta Malta, Amarna Therapeutics Bv, Micromed S.P.A., Cegat GmbH, Università degli Studi di Verona, Di.V.A.L. Toscana Srl, Ospedale Pediatrico Bambino Gesù, Università Cattolica del Sacro Cuore, Baker Idi Heart And Diabetes Institute Holdings Limited, Klinikum der Universität zu Köln, Varionostic GmbH, Universitätsklinikum Erlangen, Centre National de la Recherche Scientifique, The University of Liverpool, Fondazione Irccs Istituto Neurologico Carlo Besta, Università degli Studi di Padova