Projet ENHPATHY (Horizon 2020, appel à projets 2019)
Action : Doctoral Networks
Panel : Life Sciences
Statut du projet : SIGNED

Mutations within coding genes have traditionally been considered the major genetic cause of human disease. However, it is becoming increasingly clear that the genetic, structural and/or epigenetic disruption of enhancers and enhancer landscapes represent major etiological factors in numerous human diseases (i.e. enhanceropathies), ranging from rare congenital disorders to common diseases associated with ageing (e.g. cancer, diabetes). Although changes in enhancer activity are predicted to have broad pathological and therapeutic implications, we currently have a limited mechanistic understanding of human enhanceropathies. This reflects, at least partly, our still primitive and partial understanding of the mechanisms whereby enhancers can control gene expression. We hypothesize that enhancers are a diverse group of regulatory sequences that can utilize different mechanisms to control gene expression at the transcriptional and/or post-transcriptional level. Consequently, human enhanceropathies are likely to display an equally diverse molecular basis that, we believe, can only be uncovered using highly multidisciplinary systems biology approaches. Chiefly, elucidating the molecular basis of human enhanceropathies has far reaching translational implications, especially considering the pandemic proportions that some of these disorders are acquiring in recent years. Therefore, the major goal of the ENHPATHY network is to provide early-stage researchers with a multidisciplinary training in which cutting-edge genomic and genetic engineering approaches are ombined with various in vitro and in vivo disease models. Moreover, together with our private partners we aim at translating our molecular findings into new diagnostic and therapeutic strategies.

Mots clés : enhancer, enhanceropathies, reporter assay, genome topology, epigenetics, genomics

Participants :
- Istituti di Ricovero e Cura a Carattere Scientifico (Italie) — Partner, beneficiary, Organismes privés (hors enseignement), subvention : 261499.68 €
- Institut national de la santé et de la recherche médicale (France) — Coordinator, beneficiary, Recherche, subvention : 274802.04 €
- Annogen b.v. (Pays-Bas) — Partner, beneficiary, Organismes privés (hors enseignement), subvention : 265619.88 €
- Gen-x bv (Pays-Bas) — Partner, beneficiary, Organismes privés (hors enseignement), subvention : 0.0 €
- Czech Academy of Sciences (Rép. Tchèque) — Partner, beneficiary, Recherche, subvention : 234871.56 €
- Royal Netherlands Academy of Arts and Sciences (Pays-Bas) — Partner, beneficiary, Recherche, subvention : 265619.88 €
- Universidad de Cantabria (Espagne) — Partner, beneficiary, Enseignement supérieur ou secondaire, subvention : 250904.88 €
- Advanced BioDesign (France) — Partner, beneficiary, Organismes privés (hors enseignement), subvention : 274802.04 €
- Elvesys (France) — Partner, beneficiary, Organismes privés (hors enseignement), subvention : 274802.04 €
- University of Southern Denmark (Danemark) — Partner, beneficiary, Enseignement supérieur ou secondaire, subvention : 297522.0 €
- University of Copenhagen (Danemark) — Partner, beneficiary, Enseignement supérieur ou secondaire, subvention : 297522.0 €
- Humanitas University (Italie) — Partner, beneficiary, Enseignement supérieur ou secondaire, subvention : 0.0 €
- Centre for Genomic Regulation (Espagne) — Partner, beneficiary, Recherche, subvention : 250904.88 €
- European Molecular Biology Laboratory (Allemagne) — Partner, beneficiary, Recherche, subvention : 252788.4 €
- Board of the Swiss Federal Institutes of Technology (Suisse) — Partner, beneficiary, Enseignement supérieur ou secondaire, subvention : 281276.64 €
- University of Warsaw (Pologne) — Partner, beneficiary, Enseignement supérieur ou secondaire, subvention : 227478.6 €
- KTH Royal Institute of Technology (Suède) — Partner, beneficiary, Enseignement supérieur ou secondaire, subvention : 281982.96 €