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Epigenetics: New Tool for Precision Medicine

Four new papers in Nature Biotechnology and Nature Communications, mark the feasibility of epigenetic analysis for clinical diagnostics and precision medicine. Epigenetic analysis addresses key limitations of genetic testing, helping to ensure that patients are accurately diagnosed and treated with the right drug at the right time. The published studies were led by 2 members of the FP7-High Impact project BLUEPRINT, and many BLUEPRINT teams contributed to the research described in these papers.

Epigenetic changes occur in all cancers, and in various other diseases. Measuring these changes provides unprecedented insights into the disease mechanisms at work in individual patients, which is important for better diagnosis and patient-specific treatment decisions. In a series of four papers led by Christoph Bock (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna) and Stephan Beck (University College London, UCL), an international group of scientists have validated the feasibility of epigenetic analysis for clinical applications. Building upon years of technology development in laboratories around the world, this series of papers shows the accuracy and robustness of epigenetic tests. Going forward, clinical researchers will optimize and apply these methods for specific diseases, and it is expected that epigenetic tests will become widely used for selecting personalized treatments in cancer and other diseases. Epigenetics refers to chemical modifications of the DNA and its associated proteins that control gene activity independent of the genetic code. These epigenetic modifications define how two meters of DNA in each human cell are folded into tiny cell nuclei. Epigenetic modifications can be inherited during cell division, which helps maintain the ~200 cell types of the human body carrying the same genes. Moreover, epigenetic mechanisms provide an interface by which the environment influences gene activity. In many diseases, including all cancers, the epigenetic control of the genome is heavily distorted. Measuring these alterations provides a detailed picture of the disease-specific changes, which is often informative for distinguishing disease subtypes or identifying suitable treatments. Therefore, epigenetics has much to offer for improving disease diagnosis and treatment choice. The now published studies, which have been performed in the context of the European BLUEPRINT project and the International Human Epigenome Consortium, constitute a milestone for utilizing epigenetic information in clinical diagnostics and precision medicine. The publications can be found in Nature Biotechnology and Nature Communications: * Quantitative comparison of DNA methylation assyas for biomarker development and clinical applications. C. Bock et al. Nature Biotechnology: * Saturation analysis for whole-genome bisulfite sequencing data. Libertini et al. Nature Biotechnology: * Information recovery from low coverage whole-genome bisulfite sequencing. Libertini et al. Nature Communication: * Chromatin Accessibility maps of chronic lymphocytic leukemia identify subtype-specific epigenome signatures and transcription regulatory networks. Rendeiro, Schmidl, Strefford et al. Nature Communication: For further information see:


Epigenetics, precision medicine


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