Epigenetics
Epigenetics
unlocking the potential for personalised medicine
The sequencing of the human genome in 2003 signalled the dawn of an exciting new era for genetic medicine. Yet almost 15 years later it has become clear that our genes alone cannot predict our susceptibility to most complex diseases or fully explain fundamental aspects of human development and ageing. Epigenetic factors are rapidly taking the spotlight as major players in the critical pathways that trigger the onset and progression of numerous life-threatening and debilitating genetic diseases. Technologies that harness our growing knowledge of epigenetic mechanisms look set to revolutionise approaches to medicine and healthcare across the globe.
P
recise and powerful chemical modifications to our DNA alter the regulation or function of essential genes that influence our devel- opment or cause disease. Innovations, such as oxidative bisulfite (oxBS) sequencing enable accu- rate quantification and mapping of these impor- tant epigenetic marks, which cannot be identified and measured using traditional genetic research techniques.
Epigenetic signatures have become valuable biomarkers for disease, inspiring a new generation of medicines and diagnostics that bring precision medicine closer than ever to the patient. In combi- nation with techniques such as liquid biopsy (LQB), epigenetic platforms provide swift and accurate analysis of clinical samples, facilitating early detection of disease with the ultimate aim of improving patient outcomes1.
Methylation matters – the importance of DNA modifications
Epigenetic research explores mechanisms of gene regulation that do not alter the underlying DNA
Drug Discovery World Fall 2017
sequence. These processes or pathways are typi- cally reversible and include significant chemical changes within nucleotide sequences, such as methylation, as well as histone and RNA modifi- cations. Epigenetic modifications may be inherit- ed or added in response to environmental fac- tors. Lifestyle choices increase exposure to trig- gers (eg pollutants, cigarette smoke) that change our epigenome. Similarly, chemical signals pre- sent in the womb during prenatal development or hormones released during puberty lead to epige- netic changes that alter the regulation of particu- lar genes, affecting many vital developmental processes2.
A wealth of evidence demonstrates that chemical changes within the DNA, such as 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC), play a pivotal role in the functioning of the genome and the regulation of essential biological pathways3. Discovery and measurement of epigenetic modifi- cations have advanced our understanding concern- ing the genetic origin of many diseases and the fac- tors that influence the epigenome3-8.
33 By Dr Jason Mellad
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