{"id":175,"date":"2023-01-04T09:06:01","date_gmt":"2023-01-04T09:06:01","guid":{"rendered":"https:\/\/chromrare.eu\/?page_id=175"},"modified":"2023-01-31T15:20:15","modified_gmt":"2023-01-31T15:20:15","slug":"chrom_rare-project","status":"publish","type":"page","link":"https:\/\/chromrare.eu\/index.php\/chrom_rare-project\/","title":{"rendered":"Chrom_Rare Project"},"content":{"rendered":"
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About Chrom Rare Project<\/h3>\n\n\n\n
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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. <\/p>\n\n\n\n

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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. <\/p>\n<\/div>\n<\/div>\n\n\n\n

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.<\/p>\n\n\n\n

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Research Projects<\/h3>\n\n\n\n
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Chrom_Rare is an ambitious project aiming to understand how pathogenic variants of chromatin regulators impact on both the genetic and non-genetic function of the genome, thereby determining the phenotypic features of chromatinopathies (CPs). To achieve this aim, we will adopt an innovative strategy that combines patient-derived disease model systems with state-of-the-art technologies to dissect the contribution of chromatin dysregulation to the phenotypic alteration characterizing CPs. Our main goal is to set-up an intra-sectoral, cross-disciplinary training programme that will 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, together with our private partners, these new researchers will devise new strategies to translate these molecular findings into new diagnostic and therapeutic approaches for patients affected by CPs.<\/p>\n\n\n\n

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The Chrom_rare Project is structured into six Work Packages, described as follows:<\/h4>\n\n\n\n
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WP1<\/figcaption><\/figure>\n<\/div><\/div>\n\n\n\n
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WP2<\/figcaption><\/figure>\n<\/div><\/div>\n\n\n\n
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WP3<\/figcaption><\/figure>\n<\/div><\/div>\n\n\n\n
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WP4<\/figcaption><\/figure>\n<\/div><\/div>\n\n\n\n
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WP5<\/figcaption><\/figure>\n<\/div><\/div>\n\n\n\n
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WP6<\/figcaption><\/figure>\n<\/div><\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"

About Chrom Rare Project 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 … <\/p>\n

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