ABOUT
Training the new generation of researcher on the molecular basis of human enhanceropathies. Opening new diagnostic and therapeutic avenues for patients.
ENHPATHY is a multidisciplinary science consortium created in the frame of the Marie Skłodowska-Curie actions (MSCA)-ITN-ETN European Training Networks call and regrouping 15 academic and 12 non-academic European organisations in the continuum of basic, translational and clinical research on enhancers and associated diseases. In genetics, enhancers are a short regions of DNA that can be bound by proteins to increase the likelihood that transcription of a particular gene will occur. If mutations within coding genes have traditionally been considered the major genetic cause of human disease, 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, there is a limited mechanistic understanding of human enhanceropathies. ENHPATHY aims to increase scientific knowledge and train the new generation of researcher on the molecular basis of human enhanceropathies to open new diagnostic and therapeutic avenues for patients.
LATEST NEWS
EMBO Workshop co-organized by ENHPATHY’s members, 25-28th May 2020
The new EMBO workshop co-organized by Álvaro Rada-Iglesias, Salvatore Spicuglia and Susanne Mandrup is now open for registration --> https://bit.ly/2qoO4yC About the workshop : Mutations within coding genes have traditionally been considered the major genetic...
ENHPATHY 1st meeting – Nov 6th 2018, Marseille
ENHPATHY announces a first meeting in Marseille on Nov 6th 2018 featuring Gioacchino Natoli (Humanitas University, Italy - Inflammatory response), Salvatore Spicuglia (Inserm, France - Gene regulation by Epromoters), Robin Andersson (University of Copenhagen, Denmark...
PROJECT
Providing early-stage researchers with a multidisciplinary training in which cutting-edge genomics and genome editing approaches are combined with various in vitro and in vivo disease models to increase our understanding of the molecular basis of human enhanceropathies.
The scientific goals of ENHPATHY are to identify key deregulated enhancers and regulatory mechanisms, and provide new biomarkers and therapeutic avenues for enhanceropathies. To achieve this goal, ENHPATHY has set up an innovative, integrated and disease-focused research programme that brings together European leaders in enhancer biology, computational biology and human genetics. Available and newly generated (epi)genomic data will be analysed in a multidisciplinary manner by combining computational pipelines with cutting-edge functional assays and perturbation experiments. Together with our private partners we will explore the possibilities of translating our molecular findings into new diagnostic and therapeutic strategies.
CONSORTIUM
15 Beneficiaries
Salvatore Spicuglia (Coordinator), Institut Nationale pour la Santé et la Recherche Médicale (INSERM), France // Alvaro Rada-Iglesias (Vice Coordinator), University of Cantabria (UoC), Spain // Meritxell Alberich-Jorda, Institute of Molecular Genetics of the AS CR (IMG), Czech Republic // Robin Andersson, University of Copenhagen (UCPH), Denmark // Bart Deplancke, Swiss Federal Institute of Technology Lausanne (EPFL), Switzerland // Jorge Ferrer, Centre for Genomic Regulation (CRG), Spain // Wouter de Laat, Royal Netherlands Academy of Arts and Sciences (KNAW), The Netherlands // Susanne Mandrup, University of Southern Denmark (SDU), Denmark // Gioacchino Natoli, Humanitas University (HUNIMED), Italy // Dariusz Plewczynski, University of Warsaw (UoW), Poland // Pelin Sahlén, Royal Institute of Technology (KTH), Sweden // Joris van Arensbergen, Gen-X B.V. (Gen-X), The Netherlands // Judith Zaugg, European Molecular Biology Laboratory (EMBL), Germany // Julia Sepulveda Diaz, ELVESYS SAS (Elvesys), France // Mileidys Perez Alea, Advances BioDesign (ABD), France.
12 Partnering organisations
Christian Thirion (Sirion), Germany // Gonzalo R. Ordóñez (Dreamgenics), Spain // James B. Meigs, Alisa Manning (TOPMed), United States of America // Remi Terranova (Novartis Pharma AG), Switzerland // Thomas Lemberger (EMBO Press), Germany // J.C. Fitzsimons (Leadership Sculptor), Germany // Jean M. Grangeon (KOM Agency), France // Jacques van Helden (Institut Français de Bioinformatique) // Alain Arnaudet (La Friche Belle de Mai), France // Jorge Ferrer (Universitat Pompeu Fabra), Spain // Meritxel Alberich-Jorda (Univerzita Karlova, Charles University), Czech Republic // Wouter de Laat (Universiteit Utrecht), Netherlands.
TRAINING
The general approach of ENHPATHY is to train the next generation of ESRs and equip them with state-of-the-art theoretical, technical and computational skills to study fundamental aspects of enhancer biology and their impact on common human diseases. More specifically, using several disease and biological models already studied within the consortium, our ESRs will combine large-scale epigenomic and genome topology profiling, with high-throughput functional assays (enhancer assays, CRISPR screen) and ad hoc computational tools to gain major insights into enhancer function and the molecular bases of human diseases. To achieve these goals, our ESRs will benefit from frequent, intersectoral and interdisciplinary secondments among our network members and partners, ensuring a direct exposure to a broad, multidisciplinary and complementary range of expertise.
COMMUNICATION
STED (Structure, Train, Engage & Disseminate)
STED is an exhaustive communication and public outreach strategy to Structure (S) the organisation and the different actions of the consortium, to train (T) a new generation of researchers in the scientific and technological issues of enhancers, to engage (E) a broad audience and to disseminate (D) new discoveries to increase knowledge and open new diagnostic and therapeutic avenues in the emerging field of human enhanceropathies. STRUCTURE – Putting a face and a voice to ENHPATHY STED will use the most proficient on- and off-line communication tools to increase the visibility of the consortium and support the implementation of all its scheduled actions. Operated by beneficiaries and partners, with a strong involvement and commitment from all ESRs, STED will ensure the proper functioning of the consortium. TRAIN – Network-wide actions As key players of the consortium, ESRs will be involved in all actions organized under the coordination and the expertise of all beneficiaries, partners and external contributors: training events and conferences, online tools maintenance and content editing, press release, articles, reviews, publications, webinars, journal clubs & e-lab meeting, e-learning. ENGAGE & DISSEMINATE – External communication plan The ENHPATHY community relies on its communication strategy (tools and actions) to share its discoveries on enhancer activities and enhanceropathies with a broad audience including basic & translational researchers, clinicians, industrials, health organisations, editors, reporters, high-school, undergraduate and graduate students, artists and the general public. To complete local public outreach actions, ENHPATHY will launch #Enhancerinart, a scienc’art program offering one artist the unique opportunity to become an actor of our scientific program, by creating an original artwork in collaboration with one of our ESRs.
NEWSROOM
EMBO Workshop co-organized by ENHPATHY’s members, 25-28th May 2020
The new EMBO workshop co-organized by Álvaro Rada-Iglesias, Salvatore Spicuglia and Susanne Mandrup is now open for registration --> https://bit.ly/2qoO4yC About the workshop : Mutations within coding genes have traditionally been considered the major genetic...
ENHPATHY 1st meeting – Nov 6th 2018, Marseille
ENHPATHY announces a first meeting in Marseille on Nov 6th 2018 featuring Gioacchino Natoli (Humanitas University, Italy - Inflammatory response), Salvatore Spicuglia (Inserm, France - Gene regulation by Epromoters), Robin Andersson (University of Copenhagen, Denmark...
RESOURCES
International consortiums on epigenomics
Related European Training Networks (ETN)
Marie Skłodowska-Curie Actions
Learn more on Epigenetics
Communication
CONTACT
The Enhpathy program is coordinated by the Institut national de la santé et de la recherche médicale
This meeting was made possible thanks to the financial support of the French National Research Agency
