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European Biopharmaceutical Review

Beyond the Genome

The epigenome may hold the key to precision medicine, revealing critically important chemical modifications within DNA that alter the structure, function, and regulation of genes. This exciting and rapidly evolving area brings new perspectives to fundamental biological processes underpinning human disease, development, and ageing. Targeting of precise and powerful epigenetic mechanisms may advance personalised medicine beyond the realms of genomics, bringing opportunities for novel therapeutics and diagnostics that will improve patient outcomes and make efficient use of healthcare resources.

Epigenetic modifications within genomes do not alter the underlying sequence of DNA. Instead, precise chemical changes to DNA or RNA nucleotides and histone proteins alter the regulation and function of genes. Epigenetic modifications are inheritable and can be added or removed in response to specific external factors. Patient’s lifestyles (such as smoking and diet), environment, and the stressors that people are exposed to influence the dynamic structure and function of epigenomes, impacting the delicate balance of chemical modifications that are essential to numerous cellular processes.

Informative Diagnostics

Dysregulation of epigenetic pathways can have disastrous consequences; mutations within epigenetic regulators are among the most prevalent across all cancers (1). In addition to cancers, changes within the epigenome are associated with development of a wide range of diseases and health conditions, including neurological and metabolic diseases (2).

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Dr Jason Mellad is the CEO at Cambridge Epigenetix, which aims to change the way medicine is practised by reducing several routine and important diagnostic screening tests to a simple blood draw using the power of 5hmC epigenetic modification. Jason has a BSc in molecular biology and chemistry from Tulane University, US, and was a Marshall Scholar at the University of Cambridge, UK, where he completed a PhD in medicine.
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