Objective Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy in childhood, with more than 25,000 patients in Europe. It is due to mutations in the DMD gene that preclude the production of the protein dystrophin. In addition to the progressive muscle weakness, 50% of affected individuals have debilitating central nervous system (CNS) co-morbidities, including intellectual disability, neurodevelopmental problems encompassing autism, Attention Deficit Hyperactivity Disorder and Obsessive Compulsive Disorder. These co-morbidities are due to the deficiency of multiple dystrophin isoforms in brain whose expression is differentially affected by the site of the DMD mutation. They represent a major obstacle for patients to live a fully independent life. Current therapies do not address these co-morbidities. The postnatal restoration of one dystrophin isoform using genetic therapies in the DMD mouse model improves the neurobehavioral phenotype. This raises the exciting possibility that some of the CNS co-morbidities could improve with genetic therapies in patients. We need to address several knowledge gaps before considering clinical applications of these therapies: i. dystrophin isoforms localisation in the CNS; ii. which of the neurobehavioural features of the dystrophic mice improve after dystrophin restoration, and circuitries involved; iii. deep phenotype patients to define robust outcome measures. This project developed in partnership with advocacy groups, meets gender criteria and offers for the first time insight into how dystrophins’ affect CNS function, and on the reversibility of the DMD CNS co-morbidities, providing essential information to the field of neurodevelopmental disorders, and for other syndromes arising from dystrophin associated proteins. Our efforts to develop novel therapies that can cross the blood brain barrier could be transformative for the field of neurodegeneration and neurodevelopmental disorders. Fields of science natural sciencesbiological sciencesneurobiologymedical and health sciencesclinical medicinepsychiatryobsessive-compulsive disordernatural sciencesbiological sciencesbiochemistrybiomoleculesproteinsmedical and health sciencesbasic medicineneurologymuscular dystrophiesduchenne muscular dystrophynatural sciencesbiological sciencesgeneticsmutation Keywords Duchenne Muscular Dystrophy learning difficulties and autism deep phenotyping animal models gene therapies Programme(s) H2020-EU.3.1. - SOCIETAL CHALLENGES - Health, demographic change and well-being Main Programme H2020-EU.3.1.1. - Understanding health, wellbeing and disease Topic(s) SC1-BHC-01-2019 - Understanding causative mechanisms in co- and multimorbidities combining mental and non-mental disorders Call for proposal H2020-SC1-BHC-2018-2020 See other projects for this call Sub call H2020-SC1-2019-Two-Stage-RTD Funding Scheme RIA - Research and Innovation action Coordinator UNIVERSITY COLLEGE LONDON Net EU contribution € 1 726 494,26 Address Gower street WC1E 6BT London United Kingdom See on map Region London Inner London — West Camden and City of London Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 Participants (20) Sort alphabetically Sort by Net EU contribution Expand all Collapse all CONSORZIO FUTURO IN RICERCA Italy Net EU contribution € 272 664,00 Address Via g saragat 1 blocco b 44122 Ferrara See on map Region Nord-Est Emilia-Romagna Ferrara Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 Third-party Legal entity other than a subcontractor which is affiliated or legally linked to a participant. The entity carries out work under the conditions laid down in the Grant Agreement, supplies goods or provides services for the action, but did not sign the Grant Agreement. A third party abides by the rules applicable to its related participant under the Grant Agreement with regard to eligibility of costs and control of expenditure. UNIVERSITA DEGLI STUDI DI FERRARA Italy Net EU contribution € 60 000,00 Address Via ariosto 35 44121 Ferrara See on map Region Nord-Est Emilia-Romagna Ferrara Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 ACADEMISCH ZIEKENHUIS LEIDEN Netherlands Net EU contribution € 1 020 495,54 Address Albinusdreef 2 2333 ZA Leiden See on map Region West-Nederland Zuid-Holland Agglomeratie Leiden en Bollenstreek Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 REGION HOVEDSTADEN Denmark Net EU contribution € 284 066,28 Address Kongens vaenge 2 3400 Hillerod See on map Region Danmark Hovedstaden Nordsjælland Activity type Public bodies (excluding Research Organisations and Secondary or Higher Education Establishments) Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 UNIVERSITY OF NEWCASTLE UPON TYNE United Kingdom Net EU contribution € 469 096,08 Address Kings gate NE1 7RU Newcastle upon tyne See on map Region North East (England) Northumberland and Tyne and Wear Tyneside Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 NATIONAL CENTER OF NEUROLOGY AND PSYCHIATRY Japan Net EU contribution € 0,00 Address 4-1-1 ogawa higashi 187 8502 Kodaira tokyo See on map Activity type Other Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 50 000,00 CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE CNRS France Net EU contribution € 498 179,65 Address Rue michel ange 3 75794 Paris See on map Region Ile-de-France Ile-de-France Paris Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 UNIVERSITE DE VERSAILLES SAINT-QUENTIN-EN-YVELINES. France Net EU contribution € 443 951,24 Address Avenue de paris 55 78035 Versailles See on map Region Ile-de-France Ile-de-France Yvelines Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 Third-party Legal entity other than a subcontractor which is affiliated or legally linked to a participant. The entity carries out work under the conditions laid down in the Grant Agreement, supplies goods or provides services for the action, but did not sign the Grant Agreement. A third party abides by the rules applicable to its related participant under the Grant Agreement with regard to eligibility of costs and control of expenditure. INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE France Net EU contribution € 56 250,00 Address Rue de tolbiac 101 75654 Paris See on map Region Ile-de-France Ile-de-France Paris Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 STICHTING KEMPENHAEGHE Netherlands Net EU contribution € 303 219,75 Address Sterkselseweg 65 5590 AB Heeze See on map Region Zuid-Nederland Noord-Brabant Zuidoost-Noord-Brabant Activity type Other Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 UNIVERSITA CATTOLICA DEL SACRO CUORE Italy Net EU contribution € 182 766,00 Address Largo gemelli 1 20123 Milano See on map Region Nord-Ovest Lombardia Milano Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 UNIVERSIDAD COMPLUTENSE DE MADRID Spain Net EU contribution € 178 408,50 Address Avenida de seneca 2 28040 Madrid See on map Region Comunidad de Madrid Comunidad de Madrid Madrid Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 IMAGINE INSTITUT DES MALADIES GENETIQUES NECKER ENFANTS MALADES FONDATION France Net EU contribution € 165 585,00 Address 24 bd du montparnasse 75015 Paris See on map Region Ile-de-France Ile-de-France Paris Activity type Research Organisations Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 TRANSPHARMATION IRELAND LTD Ireland Net EU contribution € 272 445,00 Address 3rd floor ulysses house foley street D01 W2T2 Dublin See on map Region Ireland Eastern and Midland Dublin Activity type Private for-profit entities (excluding Higher or Secondary Education Establishments) Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 GREAT ORMOND STREET HOSPITAL FOR CHILDREN NHS FOUNDATION TRUST United Kingdom Net EU contribution € 41 096,50 Address Great ormond street WC1N 3JH London See on map Region London Inner London — West Camden and City of London Activity type Public bodies (excluding Research Organisations and Secondary or Higher Education Establishments) Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 STICHTING UNITED PARENT PROJECTS MUSCULAR DYSTROPHY Netherlands Net EU contribution € 165 687,50 Address Koninginnelaan 69 3905 GG Veenendaal See on map Region West-Nederland Utrecht Utrecht Activity type Other Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 SYNTHENA AG Switzerland Net EU contribution € 100 000,00 Address Freiestrasse 3 3012 Bern See on map Region Schweiz/Suisse/Svizzera Espace Mittelland Bern / Berne Activity type Private for-profit entities (excluding Higher or Secondary Education Establishments) Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 PEPGEN LIMITED Participation ended United Kingdom Net EU contribution € 16 037,51 Address Bioescalitor innovation building o OX37FZ Oxford See on map Region South East (England) Berkshire, Buckinghamshire and Oxfordshire Oxfordshire Activity type Private for-profit entities (excluding Higher or Secondary Education Establishments) Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 STICHTING DUCHENNE DATA FOUNDATION Netherlands Net EU contribution € 156 373,44 Address Warmoesdreef 10 4614 HC Bergen op zoom See on map Region Zuid-Nederland Noord-Brabant West-Noord-Brabant Activity type Other Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 THE PROVOST, FELLOWS, FOUNDATION SCHOLARS & THE OTHER MEMBERS OF BOARD, OF THE COLLEGE OF THE HOLY & UNDIVIDED TRINITY OF QUEEN ELIZABETH NEAR DUBLIN Ireland Net EU contribution € 253 508,75 Address College green trinity college D02 CX56 Dublin 2 See on map Region Ireland Eastern and Midland Dublin Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00
