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Unveiling the molecular basis of chromatinopathies to delineate innovative therapeutic solutions

Descrizione del progetto

Svelare i meccanismi molecolari delle cromatinopatie

La cromatina è una combinazione di DNA e proteine che negli organismi superiori forma i cromosomi. Le cromatinopatie sono un gruppo di malattie genetiche rare legate ad alterazioni dell’espressione genica dovute a cambiamenti genetici nei regolatori della cromatina. I geni coinvolti in queste patologie sono stati identificati, ma non sono noti i meccanismi associati alla loro inattivazione. Con il sostegno del programma di azioni Marie Skłodowska-Curie, il progetto Chrom rare istituirà una rete di dottorato per formare la prossima generazione di scienziati, fornendo loro le conoscenze e le competenze necessarie a definire le caratteristiche delle basi molecolari delle cromatinopatie. Contemporaneamente, la rete svilupperà approcci innovativi per tradurre le conoscenze molecolari in nuovi approcci diagnostici e terapeutici per i pazienti affetti da tali patologie.

Obiettivo

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.

Coordinatore

UNIVERSITA DEGLI STUDI DI TRENTO
Contribution nette de l'UE
€ 518 875,20
Indirizzo
VIA CALEPINA 14
38122 Trento
Italia

Mostra sulla mappa

Regione
Nord-Est Provincia Autonoma di Trento Trento
Tipo di attività
Higher or Secondary Education Establishments
Collegamenti
Costo totale
Nessun dato

Partecipanti (7)

Partner (7)