Project description DEENESFRITPL Enhancing understanding of transcription regulation in enhanceropathies Transcription is a key step in gene expression whereby the code carried by the DNA is copied to a single strand of RNA that is then used as a template to assemble the protein. Transcription regulation is the most common form of gene control and enhancers are rapidly becoming a key therapeutic target. Enhancers are regulatory DNA sequences that enhance gene transcription by binding to specific proteins called transcription factors. Disruption of their function is associated with numerous diseases, now broadly termed enhanceropathies, yet their mechanisms of action are largely unknown. ENHPATHY is training researchers in the multidisciplinary techniques required to elucidate mechanisms. Partnering with private companies will move discoveries from the bench to the bedside. Show the project objective Hide the project objective Objective 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. Fields of science medical and health sciencesmedical biotechnologygenetic engineeringmedical and health sciencesclinical medicineendocrinologydiabetesnatural sciencesbiological sciencesgeneticsmutationmedical and health sciencesclinical medicineoncology Keywords Enhancer enhanceropathies reporter assay genome topology epigenetics genomics Programme(s) H2020-EU.1.3. - EXCELLENT SCIENCE - Marie Skłodowska-Curie Actions Main Programme H2020-EU.1.3.1. - Fostering new skills by means of excellent initial training of researchers Topic(s) MSCA-ITN-2019 - Innovative Training Networks Call for proposal H2020-MSCA-ITN-2019 See other projects for this call Funding Scheme MSCA-ITN - Marie Skłodowska-Curie Innovative Training Networks (ITN) Coordinator INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE Net EU contribution € 274 802,04 Address RUE DE TOLBIAC 101 75654 Paris France See on map Region Ile-de-France Ile-de-France Paris Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Total cost € 274 802,04 Participants (16) Sort alphabetically Sort by Net EU contribution Expand all Collapse all UNIVERSIDAD DE CANTABRIA Spain Net EU contribution € 250 904,88 Address AVENIDA DE LOS CASTROS S/N 39005 Santander See on map Region Noroeste Cantabria Cantabria Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Total cost € 250 904,88 USTAV MOLEKULARNI GENETIKY AKADEMIE VED CESKE REPUBLIKY VEREJNA VYZKUMNA INSTITUCE Czechia Net EU contribution € 234 871,56 Address VIDENSKA 1083 142 20 Praha 4 See on map Region Česko Praha Hlavní město Praha Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Total cost € 234 871,56 KOBENHAVNS UNIVERSITET Denmark Net EU contribution € 297 522,00 Address NORREGADE 10 1165 Kobenhavn See on map Region Danmark Hovedstaden Byen København Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Total cost € 297 522,00 ECOLE POLYTECHNIQUE FEDERALE DE LAUSANNE Switzerland Net EU contribution € 281 276,64 Address BATIMENT CE 3316 STATION 1 1015 Lausanne See on map Region Schweiz/Suisse/Svizzera Région lémanique Vaud Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Total cost € 281 276,64 FUNDACIO CENTRE DE REGULACIO GENOMICA Spain Net EU contribution € 250 904,88 Address CARRER DOCTOR AIGUADER 88 08003 Barcelona See on map Region Este Cataluña Barcelona Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Total cost € 250 904,88 KONINKLIJKE NEDERLANDSE AKADEMIE VAN WETENSCHAPPEN - KNAW Netherlands Net EU contribution € 265 619,88 Address KLOVENIERSBURGWAL 29 HET TRIPPENHUIS 1011 JV AMSTERDAM See on map Region West-Nederland Noord-Holland Groot-Amsterdam Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Total cost € 265 619,88 SYDDANSK UNIVERSITET Denmark Net EU contribution € 297 522,00 Address CAMPUSVEJ 55 5230 Odense M See on map Region Danmark Syddanmark Fyn Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Total cost € 297 522,00 HUMANITAS UNIVERSITY Participation ended Italy Net EU contribution € 0,00 Address VIA RITA LEVI MONTALCINI SNC 20090 Pieve Emanuele See on map Region Nord-Ovest Lombardia Milano Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Total cost No data UNIWERSYTET WARSZAWSKI Poland Net EU contribution € 227 478,60 Address KRAKOWSKIE PRZEDMIESCIE 26/28 00-927 WARSZAWA See on map Region Makroregion województwo mazowieckie Warszawski stołeczny Miasto Warszawa Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Total cost € 227 478,60 KUNGLIGA TEKNISKA HOEGSKOLAN Sweden Net EU contribution € 281 982,96 Address BRINELLVAGEN 8 100 44 Stockholm See on map Region Östra Sverige Stockholm Stockholms län Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Total cost € 281 982,96 EUROPEAN MOLECULAR BIOLOGY LABORATORY Germany Net EU contribution € 252 788,40 Address Meyerhofstrasse 1 69117 Heidelberg See on map Region Baden-Württemberg Karlsruhe Heidelberg, Stadtkreis Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Total cost € 252 788,40 GEN-X BV Participation ended Netherlands Net EU contribution € 0,00 Address ERASMUSGRACHT 59H 1056 BG Amsterdam See on map SME The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed. Yes Region West-Nederland Noord-Holland Groot-Amsterdam Activity type Private for-profit entities (excluding Higher or Secondary Education Establishments) Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Total cost No data ELVESYS France Net EU contribution € 274 802,04 Address 172 RUE DE CHARONNE B2 2 EME ETAGE 75011 Paris See on map SME The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed. Yes Region Ile-de-France Ile-de-France Paris Activity type Private for-profit entities (excluding Higher or Secondary Education Establishments) Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Total cost € 274 802,04 ADVANCED BIODESIGN France Net EU contribution € 274 802,04 Address LES ALLEES DU PARC, 575/655 ALLEE D 69800 Saint-Priest See on map SME The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed. Yes Region Auvergne-Rhône-Alpes Rhône-Alpes Rhône Activity type Private for-profit entities (excluding Higher or Secondary Education Establishments) Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Total cost € 274 802,04 ISTITUTO EUROPEO DI ONCOLOGIA SRL Italy Net EU contribution € 261 499,68 Address VIA FILODRAMMATICI 10 20121 Milano See on map Region Nord-Ovest Lombardia Milano Activity type Private for-profit entities (excluding Higher or Secondary Education Establishments) Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Total cost € 261 499,68 Annogen B.V. Netherlands Net EU contribution € 265 619,88 Address Science Park 406 1098 XH Amsterdam See on map SME The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed. Yes Region West-Nederland Noord-Holland Groot-Amsterdam Activity type Private for-profit entities (excluding Higher or Secondary Education Establishments) Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Total cost € 265 619,88