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Unveiling the molecular basis of chromatinopathies to delineate innovative therapeutic solutions

Description du projet

DEENESFRITPL

Comprendre les mécanismes moléculaires des chromatinopathies

La chromatine est une combinaison d’ADN et de protéines qui forme les chromosomes chez les organismes supérieurs. Les chromatinopathies sont un groupe de maladies génétiques rares liées aux altérations dans l’expression des gènes en raison de changements génétiques dans les régulateurs de chromatine. Les gènes impliqués ont été identifiés, mais les mécanismes associés à leur inactivation ne sont pas compris. Grâce au soutien du programme Actions Marie Skłodowska-Curie, le projet Chrom rare établira un réseau doctoral destiné à former la prochaine génération de scientifiques aux connaissances et aux compétences requises pour caractériser la base moléculaire des chromatinopathies. En même temps, le réseau développera des approches innovantes pour traduire les données moléculaires en nouvelles approches diagnostiques et thérapeutiques destinées aux patients atteints de chromatinopathies.

Objectif

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.

Champ scientifique

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Programme(s)

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Appel à propositions

HORIZON-MSCA-2021-DN-01

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Régime de financement

HORIZON-TMA-MSCA-DN - HORIZON TMA MSCA Doctoral Networks

Coordinateur

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

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Région
Nord-Est Provincia Autonoma di Trento Trento
Type d’activité
Higher or Secondary Education Establishments
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Coût total
Aucune donnée

Participants (7)

Partenaires (7)

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Dernière mise à jour: 4 Septembre 2022

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Permalink: https://cordis.europa.eu/project/id/101073334/fr

European Union, 2024