Epigenomics Marker Machine for DNA Methylation Biomarkers

Epigenomics AG has developed a proprietary technology consisting of a combination of chemically treated DNA, highly multiplexed amplifications, high-density arrays, and MALDI-MS. This technology makes the detection of hundreds of thousands of DNA methylation signals a reality. These signals can be digitized into a long string of ones and zeros, creating a Digital Phenotype that reflects genetic activity in a particular cell or tissue, i.e. whether it is functioning normally or whether it is sick.

A large-scale genome wide screening effort of all major human tumors for DNA methylation biomarkers in tissue and serum has led to the discovery of >200 such biomarkers. Methylation-based DNA biomarkers will allow the detection of disease much earlier than currently available diagnostics. This will allow physicians to develop the best treatment for existing disease, monitor the effects of treatment and identify people at risk of developing disease. Such novel DNA methylation biomarkers could form the backbone of future molecular diagnostics. Another fascinating finding is that dozens of these biomarkers are derived from genes not yet implicated in cancer development, making them highly interesting candidates as pharmaceutical targets. It is generally accepted that DNA methylation is involved in global transcriptional regulation of the human genome. Hypermethylation can lead to decreased gene activity, for instance blocking genes that protect against cancer. On the flip side, hypomethylation of normally inactive genes often leads to their activation and acceleration of the disease process. Validated panels of informative

DNA methylation positions for various types of cancer diagnostics such as differential diagnosis, treatment planning tests, monitoring tests, as well as serum based early screening tests are expected to be developed. The convenience, performance and cost-effectiveness of these tests will make them ideal for mass screening programs for all major cancer types.

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