DESIRE

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

 Coordinatore UNIVERSITA DEGLI STUDI DI FIRENZE 

 Organization address address: Piazza San Marco 4
city: Florence
postcode: 50121

contact info
Titolo: Prof.
Nome: Alessandro
Cognome: Mugelli
Email: send email
Telefono: +39 0554271264
Fax: +39 0554271280

 Nazionalità Coordinatore Italy [IT]
 Sito del progetto http://epilepsydesireproject.eu/
 Totale costo 16˙452˙657 €
 EC contributo 11˙995˙646 €
 Programma FP7-HEALTH
Specific Programme "Cooperation": Health
 Code Call FP7-HEALTH-2013-INNOVATION-1
 Funding Scheme CP-IP
 Anno di inizio 2013
 Periodo (anno-mese-giorno) 2013-10-01   -   2018-09-30

 Partecipanti

# participant  country  role  EC contrib. [€] 
1    UNIVERSITA DEGLI STUDI DI FIRENZE

 Organization address address: Piazza San Marco 4
city: Florence
postcode: 50121

contact info
Titolo: Prof.
Nome: Alessandro
Cognome: Mugelli
Email: send email
Telefono: +39 0554271264
Fax: +39 0554271280

IT (Florence) coordinator 866˙000.35
2    INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)

 Organization address address: 101 Rue de Tolbiac
city: PARIS
postcode: 75654

contact info
Titolo: Mr.
Nome: Dominique
Cognome: Nobile
Email: send email
Telefono: +33 491828123

FR (PARIS) participant 1˙758˙106.27
3    FONDAZIONE IRCCS ISTITUTO NEUROLOGICO CARLO BESTA

 Organization address address: VIA CELORIA 11
city: MILANO
postcode: 20133

contact info
Titolo: Dr.
Nome: Francesca
Cognome: Grechi
Email: send email
Telefono: +39 0223942320

IT (MILANO) participant 997˙421.60
4    UNIVERSITATSKLINIKUM ERLANGEN

 Organization address address: Maximiliansplatz 2
city: ERLANGEN
postcode: 91054

contact info
Titolo: Dr.
Nome: Katrin
Cognome: Faber
Email: send email
Telefono: +49 9131 85 35902
Fax: +49 9131 85 35903

DE (ERLANGEN) participant 899˙600.00
5    FONDAZIONE ISTITUTO ITALIANO DI TECNOLOGIA

 Organization address address: VIA MOREGO 30
city: GENOVA
postcode: 16163

contact info
Titolo: Ms.
Nome: Claudia
Cognome: Schiaffino
Email: send email
Telefono: +39 01071781757
Fax: +39 01071781230

IT (GENOVA) participant 897˙626.80
6    CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE

 Organization address address: Rue Michel -Ange 3
city: PARIS
postcode: 75794

contact info
Titolo: Ms.
Nome: Sophie
Cognome: Deschaintres
Email: send email
Telefono: +33 4 93954260
Fax: +33 4 92960339

FR (PARIS) participant 711˙847.60
7    THE UNIVERSITY OF LIVERPOOL

 Organization address address: Brownlow Hill, Foundation Building 765
city: LIVERPOOL
postcode: L69 7ZX

contact info
Titolo: Mrs.
Nome: Sarah
Cognome: Whitcombe
Email: send email
Telefono: +44 151 7950492
Fax: +44 151 7948728

UK (LIVERPOOL) participant 597˙137.74
8    KING'S COLLEGE LONDON

 Organization address address: Strand
city: LONDON
postcode: WC2R 2LS

contact info
Titolo: Mr.
Nome: Paul
Cognome: Labbett
Email: send email
Telefono: +44 2078488184

UK (LONDON) participant 500˙200.00
9    VARIONOSTIC GMBH

 Organization address address: SOFLINGER STRASSE 100
city: ULM
postcode: 89077

contact info
Titolo: Dr.
Nome: Uwe
Cognome: Gerstenmaier
Email: send email
Telefono: +49 73136080756
Fax: +49 73136080754

DE (ULM) participant 498˙568.00
10    DI.V.A.L. TOSCANA SRL

 Organization address address: VIA MADONNA DEL PIANO 6
city: SESTO FIORENTINO FIRENZE
postcode: 50019

contact info
Titolo: Dr.
Nome: Nicoletta
Cognome: Rossi
Email: send email
Telefono: 390555000000

IT (SESTO FIORENTINO FIRENZE) participant 448˙308.00
11    MICROMED S.P.A.

 Organization address address: VIA GIOTTO 2
city: MOGLIANO VENETO
postcode: 31021

contact info
Titolo: Dr.
Nome: Gianpietro
Cognome: Favaro
Email: send email
Telefono: 390416000000

IT (MOGLIANO VENETO) participant 402˙000.00
12    UNIVERSITA DEGLI STUDI DI VERONA

 Organization address address: VIA DELL ARTIGLIERE 8
city: VERONA
postcode: 37129

contact info
Titolo: Mrs.
Nome: Elisabetta
Cognome: Guidi
Email: send email
Telefono: +39 0458027208
Fax: +39 0458027289

IT (VERONA) participant 400˙389.59
13    UNIVERSITE LIBRE DE BRUXELLES

 Organization address address: Avenue Franklin Roosevelt 50
city: BRUXELLES
postcode: 1050

contact info
Titolo: Dr.
Nome: Christine
Cognome: Courillon
Email: send email
Telefono: +32 2 6506718
Fax: 3226502321

BE (BRUXELLES) participant 336˙800.00
14    UNIVERSITY COLLEGE LONDON

 Organization address address: GOWER STREET
city: LONDON
postcode: WC1E 6BT

contact info
Titolo: Ms.
Nome: Malgorzata
Cognome: Kielbasa
Email: send email
Telefono: 442031000000
Fax: 442078000000

UK (LONDON) participant 300˙000.00
15    AMARNA THERAPEUTICS BV

 Organization address address: J H OORTWEG 21
city: LEIDEN
postcode: 2333 CH

contact info
Titolo: Mr.
Nome: Ben
Cognome: Van Leent
Email: send email
Telefono: +31 71 3322197

NL (LEIDEN) participant 299˙772.01
16    CEGAT GMBH

 Organization address address: PAUL EHRLICH STRASSE 17
city: TUBINGEN
postcode: 72076

contact info
Titolo: Dr.
Nome: Stefan
Cognome: Ohrnberger
Email: send email
Telefono: +49 7071 565 4420
Fax: +49 7071 5654422

DE (TUBINGEN) participant 299˙087.40
17    CHRISTIAN-ALBRECHTS-UNIVERSITAET ZU KIEL

 Organization address address: OLSHAUSENSTRASSE 40
city: KIEL
postcode: 24118

contact info
Titolo: Ms.
Nome: Anja
Cognome: Uhlenbrok
Email: send email
Telefono: 494319000000
Fax: 494319000000

DE (KIEL) participant 297˙780.00
18    CF CONSULTING FINANZIAMENTI UNIONE EUROPEA SRL

 Organization address address: Via Giuseppe Mussi 1
city: MILANO
postcode: 20154

contact info
Titolo: Dr.
Nome: Carla
Cognome: Finocchiaro
Email: send email
Telefono: +39 023108331
Fax: +39 0233614064

IT (MILANO) participant 278˙068.03
19    AGENCIA ESTATAL CONSEJO SUPERIOR DE INVESTIGACIONES CIENTIFICAS

 Organization address address: CALLE SERRANO 117
city: MADRID
postcode: 28006

contact info
Titolo: Mr.
Nome: Alberto
Cognome: Sereno álvarez
Email: send email
Telefono: 34915668852
Fax: 34915668913

ES (MADRID) participant 250˙305.98
20    KLINIKUM DER UNIVERSITAET ZU KOELN

 Organization address address: Kerpener Strasse 62
city: KOELN
postcode: 50937

contact info
Titolo: Mrs.
Nome: Petra
Cognome: Schreiner-Kaub
Email: send email
Telefono: +49 22147898413
Fax: +49 2211498413

DE (KOELN) participant 250˙000.00
21    CHARITE - UNIVERSITAETSMEDIZIN BERLIN

 Organization address address: Chariteplatz 1
city: BERLIN
postcode: 10117

contact info
Titolo: Ms.
Nome: Eveline
Cognome: Fräßdorf
Email: send email
Telefono: +49 30 450 576024
Fax: +49 30 450576954

DE (BERLIN) participant 249˙990.00
22    ISTITUTO GIANNINA GASLINI

 Organization address address: VIA GEROLAMO GASLINI 5
city: GENOVA
postcode: 16147

contact info
Titolo: Mrs.
Nome: Maria Gabriella
Cognome: Marinari
Email: send email
Telefono: 390106000000
Fax: 390104000000

IT (GENOVA) participant 192˙600.00
23    UNIVERSITA TA MALTA

 Organization address address: University Campus, Tal-Qroqq
city: MSIDA
postcode: 2080

contact info
Titolo: Mr.
Nome: Mark
Cognome: Debono
Email: send email
Telefono: +356 23402222

MT (MSIDA) participant 121˙210.13
24    OSPEDALE PEDIATRICO BAMBINO GESU

 Organization address address: PIAZZA SAN ONOFRIO 4
city: ROMA
postcode: 165

contact info
Titolo: Dr.
Nome: Sonya Jane
Cognome: Martin
Email: send email
Telefono: +39 06 6859 2497
Fax: +39 06 6859 2101

IT (ROMA) participant 95˙426.50
25    UNIVERSITA CATTOLICA DEL SACRO CUORE

 Organization address address: Largo Agostino Gemelli 1
city: MILANO
postcode: 20123

contact info
Titolo: Mr.
Nome: Filippo
Cognome: Leone
Email: send email
Telefono: +39 0630156099
Fax: +39 0630156803

IT (MILANO) participant 47˙400.00
26    BAKER IDI HEART AND DIABETES INSTITUTE HOLDINGS LIMITED

 Organization address address: COMMERCIAL ROAD 75 VICTORIA
city: MELBOURNE
postcode: 3104

contact info
Titolo: Ms.
Nome: Heather
Cognome: Gallichio
Email: send email
Telefono: +61 385321771

AU (MELBOURNE) participant 0.00

Mappa


 Word cloud

Esplora la "nuvola delle parole (Word Cloud) per avere un'idea di massima del progetto.

treatment    diagnosis    genetic    paediatric    multidisciplinary    molecular    diverse    gene    diagnostic    developmental    strategies    poorly    neurons    disorders    prognosis    cortical    tools    mcd    innovative    malformations    epilepsy    pathogenic    children    onset    burden    edd    animal    seizure    protocols    brain    therapies    mechanisms    epigenetic    epilepsies    elucidate    epileptic    clinical    pm    desire    cognitive    biomarkers    models    related    protein    causes    epileptogenic    drug    basic    economic   

 Obiettivo del progetto (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.'

Introduzione (Teaser)

Early onset epilepsies impose a heavy social burden as well as a high economic cost on health care services. An EU project is investigating novel diagnostics and therapies.

Descrizione progetto (Article)

The DESIRE (Development and epilepsy - strategies for innovative research to improve diagnosis, prevention and treatment in children with difficult to treat epilepsy) project is focusing on epileptogenic developmental disorders (EDDs) which are early onset paediatric epilepsies related to developmental brain processes. The work is particularly significant as EDD is poorly understood and affected children often develop early drug resistance and cognitive decline.

DESIRE aims to elucidate the genetic and epigenetic causes and pathogenic mechanisms of EED to identify new biomarkers for diagnosis and prognosis, and to discover and improve therapies. A clinical trial is underway to determine if treating children with ketogenic diet prior to surgery for focal cortical dysplasia (malformation of the cortex) can improve prognosis.

So far, genomic research to find underlying causes has involved analysis of over 300 families with epilepsies. State of the art gene sequencing was performed as well as expression analysis and epigenomic profiling. New disease-causing genes and genetic variations were identified that could be linked to developmental malformations of the brain.

High-density autosomal maps of methylation sites allowed to identify novel epigenetic gene imprints. Use of sophisticated animal models pinpointed migration of neurons as an epileptogenic mechanism.

Neurophysiological biomarkers were explored using non-invasive diagnostic prototype tools that can analyse high frequency oscillations indicative of seizure onsets. Hardware and software needed for this novel diagnostic approach are pushed forward by the company partners in the project.

Since to date, pharma industry has treated the complex range of epilepsies as one disorder thereby largely ignoring diverse causes and diverse treatment needs of paediatric patients, DESIRE aims to explore at pre-clinical stage a battery of novel treatments, spanning from genetically modifying neurons to express new metabolites, and grafting inhibitory or silenced neurons, to employing nanoparticle carriers to drive therapeutic protein compounds across the Blood-Brain-Barrier to their brain targets, leading to attenuating or preventing seizure onset.

DESIRE adds a personalised therapy approach to epilepsy treatment in children, using the currently most advanced technologies. The project is based on a strong collaboration between the multidisciplinary research teams at hospitals and small and medium enterprises, to ensure the ambitious but very relevant objectives are met.

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