In a series of four papers, published in Nature Biotechnology and Nature Communications, an international group of scientists led by CeMM’s Principal Investigator Christoph Bock and Stephan Beck (University College London, UCL) have marked the feasibility of epigenetic analysis for clinical diagnostics and precision medicine. 

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.  

The now published studies constitute a milestone for utilizing epigenetic information in clinical diagnostics and precision medicine. 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.

Publication 1: 

Christoph Bock*, Florian Halbritter, Francisco J. Carmona, Sascha Tierling, Paul Datlinger, Yassen Assenov, María Berdasco, Anke K Bergmann, Keith Booher, Florence Busato, Mihaela Campan, Christina Dahl, Christina M. Dahmcke, Dinh Diep, Agustín F Fernández, Clarissa Gerhauser, Andrea Haake, Katharina Heilmann, Thomas Holcomb, Dianna Hussmann, Mitsuteru Ito, Ruth Kläver, Martin Kreuz, Marta Kulis, Virginia Lopez, Shalima S. Nair, Dirk S. Paul, Nongluk Plongthongkum, Wenjia Qu, Ana C. Queirós, Frank Reinicke, Guido Sauter, Thorsten Schlomm, Aaron Statham, Clare Stirzaker, Ruslan Strogantsev, Rocío G. Urdinguio, Kimberly Walter, Dieter Weichenhan, Daniel J. Weisenberger, Stephan Beck, Susan J. Clark, Manel Esteller, Anne C. Ferguson-Smith, Mario F. Fraga, Per Guldberg, Lise Lotte Hansen, Peter W. Laird, José I Martín-Subero, Anders O. H. Nygren, Ralf Peist, Christoph Plass, David S. Shames, Reiner Siebert, Xueguang Sun, Jörg Tost, Jörn Walter & Kun Zhang for the BLUEPRINT Consortium. Quantitative comparison of DNA methylation assays for biomarker development and clinical applications, Nature Biotechnology, doi:10.1038/nbt.3605.

Funding: This study was partly funded by the BLUEPRINT Project of the European Union.

Publication 2: 

André F. Rendeiro, Christian Schmidl#, Jonathan C. Strefford#, Renata Walewska, Zadie Davis, Matthias Farlik, David Oscier & Christoph Bock*. Chromatin accessibility maps of chronic lymphocytic leukaemia identify subtype-specific epigenome signatures and transcription regulatory networks Nature Communications doi:10.1038/ncomms11938.

Funding: This study was partly funded by the Austrian Science Fund FWF and the New Frontiers Research Group Program of the Austrian Academy of Sciences.