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Financement de l’UE (3 992 397 €) : Molecular basis of human enhanceropathies Hor13/08/2019 Programme de recherche et d'innovation de l'UE « Horizon »

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Molecular basis of human enhanceropathies

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.


Advanced Biodesign 274 802 €
Annogen B.V. 265 620 €
ECOLE POLYTECHNIQUE FEDERALE DE LAUSANNE 281 277 €
Elvesys 274 802 €
EUROPEAN MOLECULAR BIOLOGY LABORATORY 252 788 €
Fundacio Centre de Regulacio Genomica 250 905 €
GEN-X B.V. 0,00 €
Institut National de la Sante et de la Recherche Medicale 274 802 €
Istituto Europeo Di Oncologia Srl 261 500 €
Kobenhavns Universitet 297 522 €
KONINKLIJKE NEDERLANDSE AKADEMIE VAN WETENSCHAPPEN - KNAW 265 620 €
Kungliga Tekniska Hoegskolan 281 983 €
Syddansk Universitet 297 522 €
Universidad de Cantabria 250 905 €
Universita Humanitas 0,00 €
Uniwersytet Warszawski 227 479 €
Ustav Molekularni Genetiky AV CR V.V.I. 234 872 €

https://cordis.europa.eu/project/id/860002

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