Epigenomics and The Wellcome Trust Sanger Institute launch Human Epigenome Project to follow EU pilot study

Berlin 07 October 2003Epigenomics AG and The Wellcome Trust Sanger Institute have entered into an agreement to fund and carry out the first phase of the Human Epigenome Project (HEP). The HEP will identify and describe sites in the human genome at which cytosine bases are modified by DNA methylation. This announcement follows the successful completion of the HEP pilot study funded by the European Union under the Fifth Framework Programme, which investigated links between genetics and disease. The HEP is expected to be completed within five years.


The human epigenome project (HEP) received 1,2 million funding under the quality of life and management of living resources programme of the Fifth Framework Programme. The project focused on DNA methylation, a chemical process which is responsible for switching genes on and off in cells, thus determining which genes are used in cells.

DNA methylation is considered to be essential to the normal development and functioning of organisms. However, it is also believed that methylation plays a role in the development of diseases such as cancer. Methylation changes are detected in many cancers and some developmental disorders such as Beckwith-Wiedemann syndrome (BWS), Prader-Willi syndrome and Angelman syndrome. In BWS, aberrant methylation of genes H19 and LIT1 is associated with more extreme effects and predisposition to cancer.

Methylation is a natural process that occurs mostly on one of DNA's four base pairs, cytosine. The presence of methylation can modify the activity of genes. Differences in the pattern of methylation between healthy and disease tissue can be detected and may indicate a change in gene activity that triggers diseases such as cancer.

To investigate this further, the project consortium examined methylation patterns within the major histocompatibility complex, a region of chromosome six that is associated with more diseases than any other region in the human genome. Because DNA methylation is altered in many diseases and is associated with our response to medicines and other factors like aging, the HEP will provide a crucial link between genetics, the environment and health.

The methylation status of well over 100.000 sites has been determined, revealing major differences in the way methylation regulates the same genes in different tissues. Scientists will now collate this data with a view to examining methylation patterns on other sites in the human genome. By better understanding how and when genes are switched on or off, the project is expected to provide the crucial link between genetics and diseases.

Epigenomics will utilise its expertise in high-throughput methylation analysis, while The Wellcome Trust Sanger Institute will contribute high-throughput sequencing technology to the collaboration. Tissue samples will be supplied from commercial sources as well as academic partners. After methylation-specific preparation by Epigenomics, the samples will undergo sequencing by The Wellcome Trust Sanger Institute.

Both Epigenomics and The Wellcome Trust Sanger Institute are part of the Human Epigenome Consortium (HEC), founded in 1999, which also includes the Centre National de Génotypage in Paris, France. The HEC is a public/private collaboration that aims to identify and catalogue Methylation Variable Positions (MVPs) in the human genome. More information is available at the Human Epigenome Pilot Project Web site.

Leslie Versweyveld

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