Upon completion of the Human Genome Project in 2003, it became evident that the information for life is encoded not only in the DNA sequence but also in the chemical modifications deposited by enzymes both on DNA and its associated Histone proteins. These are known as “epigenetic modifications”, which alter gene expression while the DNA sequence remains unchanged. Epigenetic mechanisms exist in all eukaryotes and consist of DNA methylation, repositioning and post-translational modifications of Histones (acetylation, methylation, sumoylation, phosphorylation, ubiquitylation) and small/non-coding RNAs. All of them act in concert with the transcription machinery and other DNA binding proteins to regulate gene expression. In this way, though all cells within an organism possess the same genome, each cell type is defined by a specific epigenetic profile. Hence, the concept was established that, along with the genetic code, an epigenetic code is fundamental for dictating cellular identity and function. Indeed, there is by now enough evidence that alterations at the level of the epigenome play a role in the onset and progression of diseases like cancer, diabetes and neuromuscular degeneration. A complete characterization of the epigenetic pathways will enable us not only to better understand their physiological role but also to identify markers for diagnosis and prognosis of diseases as well as new targets for therapies.
The goal of the EPIGEN project is to understand how epigenetic mechanisms regulate biological processes, determine phenotypic variation and contribute to the onset and progression of diseases.
The EPIGEN project is highly multidisciplinary and involves 70 Italian research teams working in close collaboration. Our laboratories employ different experimental models, approaches and technologies so we aim to establish a multidisciplinary national network and keep these synergies beyond the lifetime of the project.
Another important objective of EPIGEN is to provide training to young scientists in the form of regular courses and practical workshops. The training program covers the project's main areas of interest, with special focus on the application of Next Generation Sequencing and Bioinformatics. For more information on upcoming and past training activities click here.
The EPIGEN project is organized in 8 subprojects, five of which constitute the consortium’s main research axes that focus on the role of chromatin structure, DNA methylation and nuclear architecture in epigenetic regulation; role of the non-coding component of the genome in epigenetic regulation; epigenetic control of cellular identity and human pathologies; epigenetic drugs for therapeutical use; plant epigenomics. The other three subprojects are platforms for service and technological development in DNA/RNA sequencing, bioinformatics and cellular imaging.