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Epigenetic Biomarkers & Treatments

The wealth of new data and knowledge relating to epigenetics obtained in recent years highlights a vibrant future for epigenetics research. Of great importance for the future are the integration of high-throughput sequencing technologies and the means to maintain and manipulate the large amount of data produced by sequencing epigenomes. The influx of epigenomic data will augment the growing database of known epigenetic marks and encourage more research to describe the functions of these marks in various tissues, stages of development, and disease states. As more epigenetic marks are associated with specific diseases, tools can be developed to diagnose patients and gauge the severity of disease. There is also great interest in therapeutic epigenetics. Several drugs, such as DNA methyltransferase inhibitors and histone deacetylase inhibitors, are already used in cancer treatment1.

There are issues with specificity and efficacy of these drugs, so further research into their mechanisms is needed to develop better therapeutic agents. Likewise, better understanding of the various epigenetic diseases and syndromes may lead to effective drugs designed to overcome epigenetic defects. Recent advances in embryology have posed more questions related to epigenetics, particularly to the mechanics of genome demethylation and the re-establishment of methylation in early embryonic development3. The epigenetic marks associated with the production of pluripotent embryonic stem cells is also of high interest for its relevance in reprogramming differentiated cells to make induced pluripotent stem cells2. Beyond embryonic development, phenomena relating to the acquisition of epigenetic marks during an organism’s life span and their passage to offspring is a tantalizing area of research with many questions to be answered regarding mechanisms, and environmental influences. It is a very exciting time to be studying epigenetics, and this field of research has the potential to completely transform medicine and greatly improve human lives.

1. Esteller, M. Nat Rev Genet 8: 286-297 (2007).
2. Mikkelsen, TS et al. Nature 454: 49-55 (2008).
3. Reik, W. Nature 447: 425-432 (2007).

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