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
Call for proposal
FP7-HEALTH-2013-INNOVATION-1
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Funding Scheme
CP-IP - Large-scale integrating projectCoordinator
50121 Florence
Italy
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Participants (27)
20133 Milano
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75654 Paris
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91054 Erlangen
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37129 Verona
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75794 Paris
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16163 Genova
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28006 Madrid
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WC2R 2LS London
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10117 Berlin
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50937 Koeln
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WC1E 6BT London
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L69 7ZX Liverpool
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Participation ended
1050 Bruxelles / Brussel
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24118 Kiel
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3104 Melbourne
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2080 MSIDA
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50019 Sesto Fiorentino Fi
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31021 MOGLIANO VENETO
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Participation ended
89077 ULM
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72076 Tubingen
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2333 CH LEIDEN
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20154 Milano
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20123 Milano
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00165 Roma
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16147 Genova
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75015 PARIS 15
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49035 Angers Cedex 01
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