Project description DEENESFRITPL Unravelling the molecular mechanisms of chromatinopathies Chromatin is a combination of DNA and proteins that forms the chromosomes in higher organisms. Chromatinopathies are a group of rare genetic diseases related to alterations in the expression of genes due to genetic changes in chromatin regulators. The genes involved have been identified but the mechanisms associated with their inactivation are not understood. With the support of the Marie Skłodowska-Curie Actions programme, the Chrom rare project will establish a doctoral network to train the next generation of scientists in the knowledge and skills required to characterise the molecular basis of chromatinopathies. Simultaneously, the network will develop innovative approaches to translate molecular insight into new diagnostic and therapeutic approaches for patients with chromatinopathies. Show the project objective Hide the project objective Objective Chromatinopathies (CPs) are a group of rare genetic diseases, which share clinical features as well as causal genetic alterations, leading to the inactivation of chromatin regulators involved in gene expression control and 3D chromatin organization. Within the framework of Chrom_Rare, we will focus on a group of clinically well-defined CPs, including Kabuki Syndrome, Charge Syndrome, Rubinstein-Taybi Syndrome and Cornelia de Lange Syndrome. Although the causative genes for these CPs have been identified, the consequences of their inactivation both at the molecular and functional level, have not been defined. The clinical features of CPs vary widely, suggesting that the impact of the haploinsufficiency of the affected chromatin regulators could depend on the epigenetic state and/or interactions with additional genetic and environmental factors. Hence understanding the genetic and epigenetic determinants of CPs represent an immediate medical need, as this will ultimately facilitate reaching the development of new therapeutic approaches. Our main goal is to set-up an intra-sectoral, cross-disciplinary training programme that would prepare the next generation of researchers equipped with advanced theoretical, technical and computational skills to study fundamental aspects of chromatin biology and their impact on CPs. In parallel, Chrom_Rare will devise new strategies to translate the molecular findings into new diagnostic and therapeutic approaches for patients affected by CPs. To enable understanding the molecular basis of chromatinopathies, we aim at developing multiple disease models recapitulating the main clinical features of CPs (WP1), investigating the genetic, epigenetic and topological determinants of CPs (WP2) and uncovering perturbed regulatory circuitries suitable for therapeutic intervention (WP3). Overall Chrom_rare will address unmet socio-economic, medical and scientific needs, for the understanding and possible treatment for CPs. Fields of science natural sciencesbiological sciencesgeneticsepigenetics Keywords Chromatin biology 3D chromatin structure Kabuki syndrome Charge Syndrome Rubinstein-Taybi syndrome Cornelia de Lange syndrome drug discovery Programme(s) HORIZON.1.2 - Marie Skłodowska-Curie Actions (MSCA) Main Programme Topic(s) HORIZON-MSCA-2021-DN-01-01 - MSCA Doctoral Networks 2021 Call for proposal HORIZON-MSCA-2021-DN-01 See other projects for this call Funding Scheme HORIZON-TMA-MSCA-DN - HORIZON TMA MSCA Doctoral Networks Coordinator UNIVERSITA DEGLI STUDI DI TRENTO Net EU contribution € 518 875,20 Address VIA CALEPINA 14 38122 Trento Italy See on map Region Nord-Est Provincia Autonoma di Trento Trento 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 Total cost No data Participants (7) Sort alphabetically Sort by Net EU contribution Expand all Collapse all UNIVERSITE DE MONTPELLIER France Net EU contribution € 282 693,60 Address 163 RUE AUGUSTE BROUSSONNET 34090 Montpellier See on map Region Occitanie Languedoc-Roussillon Hérault Activity type 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 Total cost No data GENEXPLAIN GMBH Germany Net EU contribution € 260 539,20 Address AM EXER 19 B 38302 Wolfenbuttel See on map SME The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed. Yes Region Niedersachsen Braunschweig Wolfenbüttel Activity type Private for-profit entities (excluding 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 Total cost No data AGENCIA ESTATAL CONSEJO SUPERIOR DE INVESTIGACIONES CIENTIFICAS Spain Net EU contribution € 251 971,20 Address CALLE SERRANO 117 28006 Madrid See on map Region Comunidad de Madrid Comunidad de Madrid Madrid 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 Total cost No data CENTRE HOSPITALIER UNIVERSITAIRE MONTPELLIER France Net EU contribution € 282 693,60 Address AVENUE DU DOYEN GASTON GIRAUD 191 34000 Montpellier See on map Region Occitanie Languedoc-Roussillon Hérault 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 Total cost No data INSTYTUT BIOLOGII DOSWIADCZALNEJ IM. M. NENCKIEGO POLSKIEJ AKADEMII NAUK Poland Net EU contribution € 226 512,00 Address UL. LUDWIKA PASTEURA 3 02 093 Warszawa See on map Region Makroregion województwo mazowieckie Warszawski stołeczny Miasto Warszawa 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 Total cost No data UNIVERSITA DEGLI STUDI DI NAPOLI FEDERICO II Italy Net EU contribution € 259 437,60 Address CORSO UMBERTO I, 40 80138 Napoli See on map Region Sud Campania Napoli 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 Total cost No data STICHTING RADBOUD UNIVERSITEIT Netherlands Net EU contribution € 274 370,40 Address HOUTLAAN 4 6525 XZ Nijmegen See on map Region Oost-Nederland Gelderland Arnhem/Nijmegen 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 Total cost No data Partners (7) Sort alphabetically Sort by Net EU contribution Expand all Collapse all BIOTALENTUM TUDASFEJLESZTO KFT Hungary Net EU contribution € 0,00 Address AULICH LAJOS UTCA 26 2100 Goedoello See on map SME The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed. Yes Region Közép-Magyarország Pest Pest Activity type Private for-profit entities (excluding 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 Total cost No data Associazione Italiana Sindrome Kabuki Italy Net EU contribution € 0,00 Address See on map 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 Total cost No data ISTITUTO AUXOLOGICO ITALIANO Italy Net EU contribution € 0,00 Address VIA L. ARIOSTO 13 20145 Milano See on map Region Nord-Ovest Lombardia Milano 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 Total cost No data EVOTEC INTERNATIONAL GMBH Germany Net EU contribution € 0,00 Address ESSENER BOGEN 7 22419 Hamburg See on map SME The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed. Yes Region Hamburg Hamburg Hamburg 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 Total cost No data UNIVERSIDAD DE CANTABRIA Spain Net EU contribution € 0,00 Address AVENIDA DE LOS CASTROS S/N 39005 Santander See on map Region Noroeste Cantabria Cantabria 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 Total cost No data Association Syndrome Kabuki France Net EU contribution € 0,00 Address 2 place Auguste Brizeux Milizac 29290 Milizac-Guipronvel See on map Region Bretagne Bretagne Finistère 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 Total cost No data THE UNIVERSITY OF MANCHESTER United Kingdom Net EU contribution € 0,00 Address OXFORD ROAD M13 9PL Manchester See on map Region North West (England) Greater Manchester Manchester 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 Total cost No data