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.
Fields of science (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques.
You need to log in or register to use this function
We are sorry... an unexpected error occurred during execution.
You need to be authenticated. Your session might have expired.
Thank you for your feedback. You will soon receive an email to confirm the submission. If you have selected to be notified about the reporting status, you will also be contacted when the reporting status will change.
Call for proposal
FP7-HEALTH-2013-INNOVATION-1
See other projects for this call
Funding Scheme
CP-IP - Large-scale integrating projectCoordinator
50121 Florence
Italy
See on map
Participants (27)
20133 Milano
See on map
75654 Paris
See on map
91054 Erlangen
See on map
37129 Verona
See on map
75794 Paris
See on map
16163 Genova
See on map
28006 Madrid
See on map
WC2R 2LS London
See on map
10117 Berlin
See on map
50937 Koeln
See on map
WC1E 6BT London
See on map
L69 7ZX Liverpool
See on map
Participation ended
1050 Bruxelles / Brussel
See on map
24118 Kiel
See on map
3104 Melbourne
See on map
MSD 2080 MSIDA
See on map
50019 Sesto Fiorentino Fi
See on map
31021 MOGLIANO VENETO
See on map
Participation ended
89077 ULM
See on map
72076 Tubingen
See on map
2333 CH LEIDEN
See on map
20154 Milano
See on map
20123 Milano
See on map
00165 Roma
See on map
16147 Genova
See on map
75015 PARIS 15
See on map
49035 Angers Cedex 01
See on map