Enhancers play a central role in the spatiotemporal control of gene expression and tend to work in a cell-type-specific manner. In addition, they are suggested to be major contributors to phenotypic variation, evolution and disease. There is growing evidence that enhancer dysfunction due to genetic, structural or epigenetic mechanisms contributes to a broad range of human diseases referred to as enhanceropathies. Such mechanisms often underlie the susceptibility to common diseases, but can also play a direct causal role in cancer or Mendelian diseases. Despite the recent gain of insights into enhancer biology and function, we still have a limited ability to predict how enhancer dysfunction impacts gene expression.

In this Perspective review published in the Nature Structural & Molecular Biology journal, the ENHPATHY researchers discuss the major challenges that need to be overcome when studying the role of enhancers in disease etiology and highlight opportunities and directions for future studies, aiming to disentangle the molecular basis of enhanceropathies.

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Due to the current COVID-19 emergency this workshop might need to be cancelled depending on national and local recommendations. In order to give both organizers and participants more time before making any decision, the registration and payment deadlines have been extended. In case of cancellation, registration fees will be reimbursed. We also recommend all invited speakers and participants to purchase their flight tickets with a cancellation insurance

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.

Due to the current COVID-19 emergency this workshop might need to be cancelled depending on national and local recommendations. In order to give both organizers and participants more time before making any decision, the registration and payment deadlines have been extended. In case of cancellation, registration fees will be reimbursed. We also recommend all invited speakers and participants to purchase their flight tickets with a cancellation insurance

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.