Projet Chrom_rare (Horizon Europe, appel à projets 2021)
Action : Doctoral Networks
Panel : Life Sciences
Statut du projet : SIGNED

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.

Mots clés : chromatin biology, 3d chromatin structure, kabuki syndrome, charge syndrome, rubinstein taybi syndrome, cornelia de lange syndrome, drug discovery

Participants :
- Associazione italiana sindrome kabuki (Italie) — Partner, associated partner, Organismes privés (hors enseignement), subvention : 0.0 €
- Université de Montpellier (France) — Partner, beneficiary, Enseignement supérieur ou secondaire, subvention : 282693.6 €
- BioTalentum (Hungary) (Hongrie) — Partner, associated partner, Organismes privés (hors enseignement), subvention : 0.0 €
- Istituti di Ricovero e Cura a Carattere Scientifico (Italie) — Partner, associated partner, Recherche, subvention : 0.0 €
- Université de Cantabrie (Espagne) — Partner, associated partner, Enseignement supérieur ou secondaire, subvention : 0.0 €
- Université Radboud de Nimègue (Pays-Bas) — Partner, beneficiary, Enseignement supérieur ou secondaire, subvention : 274370.4 €
- Evotec (Germany) (Allemagne) — Partner, associated partner, Organismes privés (hors enseignement), subvention : 0.0 €
- Université de Manchester (Royaume-Uni) — Partner, associated partner, Enseignement supérieur ou secondaire, subvention : 0.0 €
- Instytut Biologii Doświadczalnej im. Marcelego Nenckiego (Pologne) — Partner, beneficiary, Recherche, subvention : 226512.0 €
- Centre hospitalier universitaire de Montpellier (France) — Partner, beneficiary, Recherche, subvention : 282693.6 €
- Association syndrome kabuki (France) — Partner, associated partner, Autres, subvention : 0.0 €
- GeneXplain (Germany) (Allemagne) — Partner, beneficiary, Organismes privés (hors enseignement), subvention : 260539.2 €
- Conseil supérieur de la recherche scientifique (Espagne) — Partner, beneficiary, Recherche, subvention : 251971.2 €
- Université de Trente (Italie) — Coordinator, beneficiary, Enseignement supérieur ou secondaire, subvention : 518875.2 €
- Université de Naples - Frédéric-II (Italie) — Partner, beneficiary, Enseignement supérieur ou secondaire, subvention : 259437.6 €