Epigenomics AG and The Wellcome Trust Sanger Institute announced 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.

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.

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