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Human Epigenome Project

  October, 9 2003 14:08
your information resource in human molecular genetics
Epigenomics AG and The Wellcome Trust Sanger Institute announced today 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 (see Notes). This announcement follows the successful completion of the HEP pilot study funded by the European Union (FP5): the data from the pilot study are released today on the HEP’s website.

Changes to DNA sequence – the order of A, T, G and C in our genetic code – and their role in health and disease are increasingly well understood with the completion of the human genome sequence. But our cells use additional layers of gene control and DNA methylation is one of the most important regulators of gene activity. As well as being important for normal development, methylation changes are detected in many cancers and some developmental disorders such as Beckwith-Wiedemann syndrome.

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. Integration of genetic and epigenetic information will help us to understand how and when our genes are switched on or off and it will increase our ability to fight common and complex disease.

“The mapping of all DNA methylation sites promises a better understanding of the biological basis of disease and may allow diagnosis at a much earlier stage,” commented Dr Kurt Berlin, Chief Scientific Officer at Epigenomics.

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.

The generated methylation data will then be integrated with the human genome sequence and publicly released at www.epigenome.org and at www.sanger.ac.uk/epigenome in accordance with the consortium's data release policy (see below). The HEP is expected to be completed within five years.

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 (Paris, France). The HEC is a public/private collaboration that aims to identify and catalogue Methylation Variable Positions (MVPs) in the human genome.


DNA Methylation
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. However, our knowledge of the changes caused by methylation is limited; the HEP will provide a map of such methylation sites thereby linking gene sequence to regulation.

DNA Methylation and disease
Methylation changes are detected in cancer and are also involved in several developmental diseases 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.

Pilot Project
The Consortium recently completed an EU-funded pilot study of the methylation patterns within the Major Histocompatibility Complex (MHC), a region on chromosome 6 that is associated with more diseases than any other region in the human genome. In total, the methylation status of well over 100,000 sites has been determined, revealing major differences in the methylation pattern between tissues. In order to integrate the methylation data with existing genome annotation and make them publicly available, a new methylation viewer has been developed using the popular ENSEMBL interface (www.epigenome.org and www.sanger.ac.uk/epigenome).

Data Release Policy (http://www.epigenome.org/index.php?page=release)
MVPs will be generated in batches. After 120 days the data from each completed batch will be released at http://www.epigenome.org. No license expressed or implied is granted for commercial use of the released data. Non-commercial entities may use the data solely for non-Commercial research purposes. For the avoidance of doubt, the data is subject to the Wellcome Trust Intellectual Property Policy and patent applications might have been filed.

About the Wellcome Trust Sanger Institute
The Sanger Institute is a genome research institute primarily funded by the Wellcome Trust. Our purpose is to further the knowledge of genomes particularly through large-scale sequencing and analysis. The Wellcome Trust is an independent research-funding charity, established under the will of Sir Henry Wellcome in 1936. It is funded from a private endowment which is managed with long-term stability and growth in mind. The Trust's mission is to foster and promote research with the aim of improving human and animal health.

About Epigenomics
Epigenomics is committed to personalizing medicine in cancer and other complex diseases by developing novel diagnostic, pharmacodiagnostic, and research products. By detecting and interpreting digitized DNA methylation patterns, the "on" and "off" signs for genes, Epigenomics enables an exact diagnosis of disease at very early stages and helps select an appropriate therapy.
The company has its headquarters in Berlin, Germany, and a wholly owned subsidiary in Seattle, USA. For more information, please visit our website at www.epigenomics.com.

Message posted by: Frank S. Zollmann

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