Virchows Archiv

, Volume 456, Issue 1, pp 13–21

Genome-scale approaches to the epigenetics of common human disease

Review and Perspective

DOI: 10.1007/s00428-009-0847-2

Cite this article as:
Feinberg, A.P. Virchows Arch (2010) 456: 13. doi:10.1007/s00428-009-0847-2


Traditionally, the pathology of human disease has been focused on microscopic examination of affected tissues, chemical and biochemical analysis of biopsy samples, other available samples of convenience, such as blood, and noninvasive or invasive imaging of varying complexity, in order to classify disease and illuminate its mechanistic basis. The molecular age has complemented this armamentarium with gene expression arrays and selective analysis of individual genes. However, we are entering a new era of epigenomic profiling, i.e., genome-scale analysis of cell-heritable nonsequence genetic change, such as DNA methylation. The epigenome offers access to stable measurements of cellular state and to biobanked material for large-scale epidemiological studies. Some of these genome-scale technologies are beginning to be applied to create the new field of epigenetic epidemiology.


EpigeneticsEpidemiologyDNA methylation

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  1. 1.Center for Epigenetics and Department of MedicineJohns Hopkins University School of MedicineBaltimoreUSA