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Saturday, May 28, 2011 - Sunday, May 29, 2011

A Satellite of the ESHG meeting

The Human Variome Project is an International Initiative with a goal of understanding genetic variation and using this information to improve human health through the control of genetic disease.

While many databases currently exist and are performing a vital function within the overall genetic information collection scheme, many more databases need to be created, particularly around specific diseases. The Human Variome Project believes that the societies and support groups based around particular diseases have an important role to play here. As such, the Human Variome Project, via the Coordinating office has been reaching out to these societies, encouraging them to create new databases to fill in the gaps within the current database landscape. This meeting will focus on why disease specific databases are necessary from the viewpoints of both the clinician and researcher and through discussion, will raise issues of how the current databases available are lacking and what future databases will need to address the current problems.

An early adopter of this scheme is the InSiGHT Group: the International Society for Gastrointestinal Hereditary Tumours. InSiGHT has been involved in the Human Variome Project since its inception in 2006, and has already begun an aggressive process of combining and consolidating the disparate databases for the mismatch repair genes associated with colorectal cancer. The Chair of this meeting Professor Finlay Macrae will be sharing the InSiGHT experience in creating a Disease Specific Database.

Other distinguished speakers will be invited to discuss the problems of current and needs of future disease specific databases.

We encourage delegates to bring their ideas from many related disciplines and participate in the ample time allocated for discussion.

More information can be found on the meeting website: