Skip to main content
European Commission logo print header

Unveiling the molecular basis of chromatinopathies to delineate innovative therapeutic solutions

Project description

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.


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.



Net EU contribution
€ 518 875,20
Via calepina 14
38122 Trento

See on map

Nord-Est Provincia Autonoma di Trento Trento
Activity type
Higher or Secondary Education Establishments
EU contribution
No data

Participants (7)

Partners (7)