About the workshop :
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 represent major etiological factors in numerous human diseases (i.e. enhanceropathies), ranging from rare congenital disorders to common diseases associated with ageing and lifestyle (e.g. cancer, diabetes). Although changes in enhancer activity are predicted to have broad pathological and therapeutic implications, we currently have a limited understanding of human enhanceropathies. This reflects, at least partly, our still primitive and partial understanding of the mechanisms whereby enhancers can control gene expression. To overcome these limitations, this workshop will bring together experts in enhancer biology, gene regulation and medical genetics that, during three days, will present their latest work. Our invited speakers and participants will discuss the multidisciplinary approaches required to investigate enhancer function as well as debate about the role of enhancers in fundamental biological processes (e.g. embryonic development, evolution) and in the etiology of human disorders. Ultimately, the goal of this EMBO Workshop will be to provide a complete view of how a deep and systems-level understanding of enhancer function can facilitate elucidating the molecular basis of human enhanceropathies.