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CORDIS

Molecular basis of human enhanceropathies

Project description

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.

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.

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

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Region
Ile-de-France Ile-de-France Paris
Activity type
Research Organisations
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Total cost
€ 274 802,04

Participants (16)