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Unveiling the molecular basis of chromatinopathies to delineate innovative therapeutic solutions

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.

Coordinator

UNIVERSITA DEGLI STUDI DI TRENTO
Net EU contribution
€ 518 875,20
Address
Via Calepina 14
38122 Trento
Italy

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

Participants (7)

UNIVERSITE DE MONTPELLIER
France
Net EU contribution
€ 282 693,60
Address
163 Rue Auguste Broussonnet
34090 Montpellier

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Region
Occitanie Languedoc-Roussillon Hérault
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
No data
GENEXPLAIN GMBH
Germany
Net EU contribution
€ 260 539,20
Address
Am Exer 19 B
38302 Wolfenbuttel

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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)
Non-EU contribution
No data
AGENCIA ESTATAL CONSEJO SUPERIOR DE INVESTIGACIONES CIENTIFICAS
Spain
Net EU contribution
€ 251 971,20
Address
Calle Serrano 117
28006 Madrid

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Region
Comunidad de Madrid Comunidad de Madrid Madrid
Activity type
Research Organisations
Non-EU contribution
No data
CENTRE HOSPITALIER UNIVERSITAIRE MONTPELLIER
France
Net EU contribution
€ 282 693,60
Address
Avenue Du Doyen Gaston Giraud 191
34000 Montpellier

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Region
Occitanie Languedoc-Roussillon Hérault
Activity type
Research Organisations
Non-EU contribution
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

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Region
Makroregion województwo mazowieckie Warszawski stołeczny Miasto Warszawa
Activity type
Research Organisations
Non-EU contribution
No data
UNIVERSITA DEGLI STUDI DI NAPOLI FEDERICO II
Italy
Net EU contribution
€ 259 437,60
Address
Corso Umberto I, 40
80138 Napoli

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Region
Sud Campania Napoli
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
No data
STICHTING RADBOUD UNIVERSITEIT
Netherlands
Net EU contribution
€ 274 370,40
Address
Houtlaan 4
6525 XZ Nijmegen

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Region
Oost-Nederland Gelderland Arnhem/Nijmegen
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
No data