Epigenomics and the Wellcome Trust Sanger Institute are to press ahead with the first phase of the Human Epigenome Project following the successful completion of a pilot study funded by the European Union.
The HEP will identify and describe sites in the human genome at which cytosine bases are modified by DNA methylation. The data from the pilot study, which focused on looking at methylation changes in the genes coding for Major Histocompatibility Complex region on chromosome 6, are released today on the HEP's website.
Variations in DNA sequence 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 - known as Methylation Variable Positions (MVPs) - are detected in many cancers and some developmental disorders.
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 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 contribute its expertise in high-throughput methylation analysis to the HEP, while the Wellcome Trust Sanger Institute will provide high-throughput sequencing technology. Tissue samples will be supplied from commercial sources as well as academic partners and the generated methylation data will then be integrated with the human genome sequence. The HEP is expected to be completed within five years.