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Towards an Advanced Understanding of Epigenetic Disease: From Sequencing to Microscopy

Started May 6, 2021

Abstract or project description

Epigenetics is the study of how external factors from the environment change the way genes are expressed. Similar to how a change in DNA sequence may cause certain disorders, epigenetic modifications alter the biochemical and physical properties of DNA that affect gene activation to influence disease development. Epigenetic markers, which are found on the complex of DNA and protein known as chromatin, have been recognized as a potential gateway to achieving improved disease diagnostics. Thus far, we have obtained a foundational understanding of how epigenetic modifications affect chromatin in a laboratory setting. Adaptations of sequencing technology to assay epigenetic features of chromatin have enabled the identification of numerous biomarkers of disease. Here, we review the most widely studied epigenetic biomarker, DNA methylation, in cancer progression. However, a more mechanistic understanding of how epigenetic modifications impact chromatin structure to regulate gene transcription would advance the field even further. Many of these mechanisms involve changes in how the chromatin polymer compacts in nuclei and folds in three dimensions. In this paper, we not only discuss the current applications of multiple sequencing assays to study higher-order chromatin structure, but also propose microscopy-based techniques as the next frontier in translating epigenetic-based diagnostics to a clinical setting.