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Eyeing epigenetics
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[QUOTE="Milamber, post: 16145998, member: 340002"] [B]Eyeing Epigenetics[/B] Researchers make inroads to understand disease via how genes are affected by environment By [URL='https://www.genengnews.com/author/camille-mojicarey/']Camille Mojica Rey[/URL] - February 13, 2019 [URL='https://www.genengnews.com/insights/eyeing-epigenetics/#respond']0[/URL] While most molecular studies of disease continue to focus on mutational analysis, epigenetics—the science of how genes are regulated and impacted by their environment over time—is gaining in importance. And, with the advent of better, faster, cheaper technology, epigenetic testing is starting to make its way into the clinic. “The field of clinical epigenetics is expanding rapidly, especially in cancer,” said Bodour Salhia, M.D., assistant professor of translational genomics at the Keck School of Medicine at the University of Southern California. “The reasons for this include advances in technology and a buy-in to the importance and relevance of the use of epigenetic markers to track diseases.” Another reason for the growing popularity of pre-clinical epigenetics research is the fact that mutational analyses have given inconsistent results. “Genetics has not borne the fruit of predicting disease,” said Zachary Kaminsky, Ph.D., DIFD Mach Gaensslen Chair in Suicide Prevention Research at The Royal’s Institute of Mental Health Research, affiliated with the University of Ottawa. “Epigenetics has potential because it lies at the interface of genes and the environment.” Epigenetic researchers hope this will give them more power to predict risk, diagnose, and potentially treat complex diseases, from cancer and cardiovascular disease to psychiatric disorders. Several tests that utilize epigenetic markers are already in use in the clinic. For example, a test for SNPRN methylation is used to diagnose Prader-Willi and Angelman syndromes—inherited disorders of the chromosome in neurological, behavioral, and developmental symptoms. In cancer, the FDA-approved Epi proColon and Cologuard tests are used in colorectal cancer screening. Epi proColon detects a hypermethylated promoter region of the SEPT9 gene in cell-free DNA (cfDNA) and Cologuard measures aberrantly methylated BMP3 and NDRG4 promoter regions in a stool sample. But, there are many more markers being studied for future use in the clinic, either alone or in combination with other tests. [B][B]Cancer[/B][/B] Salhia’s lab is focused on developing a test for breast cancer recurrence. Currently, the approach for classifying women as high-risk or low-risk of recurrence is based on relatively crude factors and relies on tissue at the single time point of diagnosis. Once therapy is complete, many women will be cured, but some will not be and will end up developing recurrence up to 30 years past their initial diagnosis. “Their risk of recurrence at diagnosis could have either been inaccurate or changed after therapy. Either way, you just don’t know whether you are one of the ones cured or not cured and you just have to let time tell you,” Salhia explained. Over 90 percent of deaths due to breast cancer are the result of metastasis, which kills more than 40,000 women in the U.S. every year. Salhia’s lab is developing a cell-free DNA methylation test to be used in early stage breast cancer settings. “We believe that we can have the sensitivity to detect the ‘needle in the haystack’ and serve as a prognostic test for recurrence. Meaning, we want to detect residual disease at the completion of therapy, which would indicate metastasis in the future.” In time, Salhia said she hopes this test would be predictive and lead to prescription of additional therapies that would help deter recurrence. Salhia and her colleagues published a feasibility study in 2015 in [I]Clinical[/I] [I]Epigenetics[/I] and have been working since to develop the assay, following patients to make the necessary correlations of the DNA methylation markers to recurrence. [/QUOTE]
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