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Sunday, May 25, 2008 - Thursday, May 29, 2008

This is an archived version of a page that is now out of date. For more information on this meeting, please see: Kaput et al. (2009) Planning the Human Variome Project: The Spain report

It is widely accepted that data on gene variations, especially those causing single gene disorders, are extremely valuable in the clinic, diagnostic laboratory and to research. It is also accepted that databasing of such variants and their phenotype is far from satisfactory. Many aspects of databasing of other classes of variants, thought to cause common disease, are also unsatisfactory. This problem led to the concept of the Human Variome Project which provides a focus to generate the necessary activity in the area. An inaugural meeting on the topic in June 2006 ( provided 96 recommendations (Cotton et al 2007; Recommendations of the 2006 Human Variome Project Meeting, Nat. Gen. 39:433-436) which need to be implemented to improve the current situation. Achieving the HVP goals will improve genetic healthcare and research worldwide.

As a consequence of the myriad of inherited diseases that have now been discovered, many individuals have been working in isolation, with their work not widely known.  Thus similar systems have been or will be developed independently, wasting valuable funds. This means that solutions to many problems may now be available and simply need to be adapted to other genes or improved.

This planning meeting has been designed to maximize exposure of the field, with an emphasis on single gene disorder (where the need is greatest at the clinical level), to the various systems available and planned, to enhance cross collaboration and avoid unnecessary work and expense.

We expect the meeting to consolidate or generate key subprojects similar to the HVP/InSiGHT initiative (, to pilot data flow from patient to central database. These subprojects will relate to the topics of the 96 recommendations which were summarized by the Working Groups and published in Nature Genetics in April 2007.

A range of individuals with key projects completed, underway or planned across all types of inherited disease, will be encouraged to attend this meeting. Naturally those involved with central databasing/browsing and common disease will also need to be involved.

The aim of the HVP is to generate a common system which can be applied to all genes in all countries to collect variations and their effects.
Meeting Format

Rather than dividing the topic into areas of need as occurred with the first meeting, the meeting will be divided into the following components necessary for the complete system and to satisfy the 96 recommendations. Some of these relate to the February 2007 Working Groups (confirmed members attached) which will be confirmed/finalized/added to at the end of the meeting.

- Ethics
- Data collection from laboratories
- Data collection from clinics
- Data transfer & databasing (gene specific) (LSDB)
- Overall data integration and access
- Assessment of pathogenicity & translational healthcare
- Publication, credit & incentives
- Developing/Emerging countries & world wide collection
- Funding mechanisms & governance
- Pilot projects already covering several components

Each topic will have two discussion leaders one who will introduce and review the topic on the first day and will lead the discussion. The coordinating office will develop a list of current systems relevant to each topic for use by discussion leaders and the community is invited to add to the lists via the secretariat, i.e. Systems and reference/website. The other discussion leader (or both) will deliver a talk in the concurrent session. Further shorter lectures will be given by others working or interested in that topic; these individuals may be suggested and/or chosen from abstracts. Key individuals unable to attend should or will be asked to submit a structured one page article and published papers on their relevant work for inclusion in the discussion and planning. The discussion leaders will be responsible for discussion sessions and will write a three page document (see protocol for discussion leaders attached).  We would hope to publish the amalgamation of all articles in a major journal reviewing current work and plans so that others may assist and assess the plans. Material for each topic can then be used as a basis for grant applications.