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Planning Meeting

25 - 29 May 2008

San Feliu de Guixols

Costa Brava, Spain


Programme available HERE



imageIt 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.

We therefore invite all individuals involved or interested in the field to participate with us in the formulation and planning of this ambitious project to register for the meeting at

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.

  1. Ethics
  2. Data collection from laboratories
  3. Data collection from clinics
  4. Data transfer & databasing (gene specific) (LSDB)
  5. Overall data integration and access
  6. Assessment of pathogenicity & translational healthcare
  7. Publication, credit & incentives
  8. Developing/Emerging countries & world wide collection
  9. Funding mechanisms & governance
  10. 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.


The program as of April 28th is available here.


We invite submission of abstracts for the Planning Meeting in each of the specific topics listed above. You are welcome to register for the meeting without submitting an abstract. Details for abstract preparation and submission are available here.

On 4th April the deadline for abstract submission passed. We now have new arguments for the abstracts. From the 4th April onwards:

1. Please note the Special Headings very deliberately chosen for the type of meeting it is.

2. Abstracts submitted after 4th April will not be bound in the program. However, they will be mounted on the website and circulated to the Discussion Leaders for consideration.

3. Those wishing to speak to their abstracts should indicate this as the final program will be put in stone on 15th April however some flexibility will be allowed in the program for late chosen speakers.

4. Those unable to attend but who have valuable ideas/pilots/plans are encouraged to send abstracts in for circulation and inclusion in discussion. Authors of such abstracts may be included in the authorship of the multi-author Nature Genetics paper.

5. You do not have to submit an abstract with ideas/pilots/plans to attend. You can also submit an abstract to be considered, but choose not to speak to it.

There will be no posters at this meeting due to the nature of the meeting.


Sunday 25th May to Thursday 29th May 2008.

It is EXPECTED that all attendees arrive on the 25th so discussions can take place prompty in the morning of the 26th. Attendees are EXPECTED to stay for the duration of the conference until 12.00PM on the 29th May.

The meeting will be held at the Hotel Eden Roc in San Feliu de Guixols on the Costa Brava in Spain ( See the details page for more information about the venue including transport information.


Fee includes administrative costs, accommodation for the nights of 25 -28 May (4 nights) and all meals. See "Registration" page for more details.

Earlybird; until 31st March 2008: Euro 750
Earlybird Twinshare; until 31st March 2008: Euro 680
Regular Twinshare: from 1st April 2008: 730
Regular; from 1st April 2008: Euro 800

There is an accompanying persons package for those people not attending the conference for accommodation and all meals at Euro 360. These must be booked at the time of registration.

All costs in Euro.