Skip to main content

Development and Epilepsy - Strategies for Innovative Research to improve diagnosis, prevention and treatment in children with difficult to treat Epilepsy

Objective

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 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.

Field of science

  • /medical and health sciences/basic medicine/neurology/epilepsy

Call for proposal

FP7-HEALTH-2013-INNOVATION-1
See other projects for this call

Funding Scheme

CP-IP - Large-scale integrating project

Coordinator

UNIVERSITA DEGLI STUDI DI FIRENZE
Address
Piazza San Marco 4
50121 Florence
Italy
Activity type
Higher or Secondary Education Establishments
EU contribution
€ 765 244,61
Administrative Contact
Alessandro Mugelli (Prof.)

Participants (27)

FONDAZIONE IRCCS ISTITUTO NEUROLOGICO CARLO BESTA
Italy
EU contribution
€ 1 013 251,37
Address
Via Giovanni Celoria 11
20133 Milano
Activity type
Research Organisations
Administrative Contact
Francesca Grechi (Dr.)
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
France
EU contribution
€ 1 752 973,65
Address
Rue De Tolbiac 101
75654 Paris
Activity type
Research Organisations
Administrative Contact
Dominique Nobile (Mr.)
UNIVERSITATSKLINIKUM ERLANGEN
Germany
EU contribution
€ 898 540,16
Address
Maximiliansplatz 2
91054 Erlangen
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Katrin Faber (Dr.)
UNIVERSITA DEGLI STUDI DI VERONA
Italy
EU contribution
€ 392 785,71
Address
Via Dell Artigliere 8
37129 Verona
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Sonia Ricciardi (Mrs.)
CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE CNRS
France
EU contribution
€ 711 009,42
Address
Rue Michel Ange 3
75794 Paris
Activity type
Research Organisations
Administrative Contact
Sophie Deschaintres (Ms.)
FONDAZIONE ISTITUTO ITALIANO DI TECNOLOGIA
Italy
EU contribution
€ 896 571,81
Address
Via Morego 30
16163 Genova
Activity type
Research Organisations
Administrative Contact
Claudia Schiaffino (Ms.)
AGENCIA ESTATAL CONSEJO SUPERIOR DEINVESTIGACIONES CIENTIFICAS
Spain
EU contribution
€ 249 920,95
Address
Calle Serrano 117
28006 Madrid
Activity type
Research Organisations
Administrative Contact
Alberto Sereno álvarez (Mr.)
KING'S COLLEGE LONDON
United Kingdom
EU contribution
€ 499 610
Address
Strand
WC2R 2LS London
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Paul Labbett (Mr.)
CHARITE - UNIVERSITAETSMEDIZIN BERLIN
Germany
EU contribution
€ 249 694,58
Address
Chariteplatz 1
10117 Berlin
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Eveline Fräßdorf (Ms.)
KLINIKUM DER UNIVERSITAET ZU KOELN
Germany
EU contribution
€ 249 704,40
Address
Kerpener Strasse 62
50937 Koeln
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Petra Schreiner-Kaub (Mrs.)
UCL Elizabeth Garrett Anderson Institute for Women’s Health
United Kingdom
EU contribution
€ 299 645,48
Address
Gower Street
WC1E 6BT London
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Malgorzata Kielbasa (Ms.)
THE UNIVERSITY OF LIVERPOOL
United Kingdom
EU contribution
€ 597 137,74
Address
Brownlow Hill 765 Foundation Building
L69 7ZX Liverpool
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Sarah Whitcombe (Mrs.)
UNIVERSITE LIBRE DE BRUXELLES

Participation ended

Belgium
EU contribution
€ 8 541,64
Address
Avenue Franklin Roosevelt 50
1050 Bruxelles
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Christine Courillon (Dr.)
CHRISTIAN-ALBRECHTS-UNIVERSITAET ZU KIEL
Germany
EU contribution
€ 297 428,10
Address
Olshausenstrasse 40
24118 Kiel
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Anja Uhlenbrok (Ms.)
BAKER HEART AND DIABETES INSTITUTE
Australia
Address
Commercial Road 75 Victoria
3104 Melbourne
Activity type
Research Organisations
Administrative Contact
Heather Gallichio (Ms.)
UNIVERSITA TA MALTA
Malta
EU contribution
€ 121 066,90
Address
University Campus, Tal-qroqq
2080 Msida
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Mark Debono (Mr.)
DI.V.A.L. TOSCANA SRL
Italy
EU contribution
€ 447 610,40
Address
Via Madonna Del Piano 6
50019 Sesto Fiorentino Fi
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Nicoletta Rossi (Dr.)
MICROMED S.P.A.
Italy
EU contribution
€ 401 532
Address
Via Giotto 2
31021 Mogliano Veneto
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Gianpietro Favaro (Dr.)
VARIONOSTIC GMBH
Germany
EU contribution
€ 497 988,38
Address
Soflinger Strasse 100
89077 Ulm
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Uwe Gerstenmaier (Dr.)
CEGAT GMBH
Germany
EU contribution
€ 298 622,70
Address
Paul Ehrlich Strasse 17
72076 Tubingen
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Stefan Ohrnberger (Dr.)
AMARNA THERAPEUTICS BV
Netherlands
EU contribution
€ 299 419,63
Address
J H Oortweg 21
2333 CH Leiden
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Ben Van Leent (Mr.)
CFc srl
Italy
EU contribution
€ 277 739,43
Address
Via Giuseppe Mussi 1
20154 Milano
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Carla Finocchiaro (Dr.)
UNIVERSITA CATTOLICA DEL SACRO CUORE
Italy
EU contribution
€ 45 917,22
Address
Largo Gemelli 1
20123 Milano
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Filippo Leone (Mr.)
OSPEDALE PEDIATRICO BAMBINO GESU
Italy
EU contribution
€ 92 317,54
Address
Piazza Sant Onofrio 4
00165 Roma
Activity type
Other
Administrative Contact
Sonya Jane Martin (Dr.)
ISTITUTO GIANNINA GASLINI
Italy
EU contribution
€ 192 372,40
Address
Via Gerolamo Gaslini 5
16147 Genova
Activity type
Public bodies (excluding Research Organisations and Secondary or Higher Education Establishments)
Administrative Contact
Maria Gabriella Marinari (Mrs.)
COMMISSARIAT A L ENERGIE ATOMIQUE ET AUX ENERGIES ALTERNATIVES
France
EU contribution
€ 112 499,78
Address
Rue Leblanc 25
75015 Paris 15
Activity type
Research Organisations
Administrative Contact
Patricia Lenormand (Mrs.)
UNIVERSITE D'ANGERS
France
EU contribution
€ 326 500
Address
Rue De Rennes 40
49035 Angers Cedex 01
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Philippe Simoneau (Prof.)