Epigenetics has the potential to be a key element in a paradigm change of our understanding of health and disease and fundamentally change public health policies. Epigenetic modifications are normally used during the development and maintenance of different cell types, but faulty epigenetic regulation can cause lasting damage, leading to cancer and other diseases ranging from metabolic disorders such as diabetes, to heart disease and mental health conditions.
In the last 30 years, epigenetically induced changes in gene expression have been linked to many different cancers, among them bowel, breast, lung, prostate, liver, ovarian and pancreatic cancer. DNA methylation levels seem also to affect factors influencing cancer risk, such as obesity, smoking and ageing. Epigenetics also play a role in the autoimmune diseases such as rheumatoid arthritis with aberrant levels of DNA methylation and histone modifications having been connected to increased levels of inflammatory proteins in affected bone joints. Epigenetics has also been linked to a range of neurodegenerative diseases such as Alzheimer’s, Parkinson’s and Huntington’s. Epigenetic changes have been observed in mental retardation disorders with severe intellectual disabilities, such as Fragile X, Rett, Prader-Willi and Angelman syndromes. The last few years have seen increasing interest in investigating the epigenetic dimension of neuropsychiatric diseases such as schizophrenia, bipolar disorder and depression.
The reversible nature of epigenetic traits makes them an attractive target for therapeutic interventions, especially in the context of precision medicine, and for the prediction of disease. Precision medicine involves the collaboration of many disciplines, from molecular biology and chemistry to physics and computational science; it requires a seamless transition from basic research to translation medicine and on to the clinic. The interdisciplinary approach of EpiGeneSys has greatly contributed to the continuing development of technologies and analysis methodologies which are necessary to advance the understanding of disease.
Research conducted in the context of EpiGeneSys has added to our knowledge about how epigenetic patterns can serve as biomarkers for the diagnosis of disease, the early identification of patients at risk of a disease and to trace or predict the efficiency of particular treatments in patients.