Key Dates
closed Abstract Submission CLOSED
31st March 2010 Earlybird Registration Ends
10th-14th May 2010 Conference

Scientific Committee

Richard G.H. Cotton (Chair), Australia
Mike Watson, USA
Arleen D. Auerbach, USA
Segolène Ayme, France
Jean-Jacques Cassiman, Belgium
Mireille Claustres, France
Johan T. den Dunnen, Netherlands
Michael Katz, USA
Finlay Macrae , Australia
Yoichi Matsubara, Japan
Gabriela Möslein, Germany
Rajkumar Ramesar, South Africa
Sue Richards, USA
Graham Taylor, UK
Thomas Weber, USA

Meeting Secretariat

Julia Hasler, UNESCO, France
Rania Horaitis, Australia
Heather Howard, (Chair) Australia
Lauren Martin, Australia
Casimiro Vizzini, UNESCO, France
Tim Smith, Australia
In association with:

3rd Human Variome Project Meeting

Implementation and Integration

UNESCO Headquarters Paris

The Programme of the Meeting Available

This third Human Variome Project Meeting will formally discuss the next steps to be taken and planned for the project particularly surrounding "Implementation and Integration". The aim is to determine the major ways in which the recommendations and actions from the first meetings can be best implemented in a global collaborative context to prepare the systems necessary to routinely and systematically gather the deluge of variations in genes causing disease (mutations) now being discovered, as there will be at least, 100 to 1000 mutations in each of the 20,000 human genes. This meeting will bring together key individuals who are currently working on the necessary components and the development of the systems relevant to the task, including those working on pilot systems. Individuals include bioinformaticians, clinical geneticists, researchers, counsellors, database curators, diagnostic laboratory heads, common disease variation experts, genome sequencers, support groups and will address and include topics impacting on:- clinical data collection, genetic data collection, distributed databasing (country and gene specific), country specific collection, key pilot/current projects, central databasing, transfer to central databases, incentives for databasing, ethics of databasing and funding.

We are looking for anyone interested in collaborating in this area to attend the meeting and abstracts are invited. Presentations will be chosen from those who have or are planning systems which are relevant to the collection and display of "all mutations in all genes from all countries". Chairs will be asked to document projects currently underway and to nominate new collaborative projects and where possible nominate the collaborators. Chairs will also be asked to develop projects leading to standards which can be developed and accepted.

Space is limited to 200 so please register early to be assured of a place.

You might also like to attend one of the concurrent satellite meetings being held on the 10th May in the same venue Satellite Meetings

Professor Richard Cotton
Convenor, Human Variome Project

Conference Plan

Overall Goal

Continue to increase awareness of the importance of the aims of the Human Variome Project and the further development of protocols and systems to "collect, curate and make available information on all human genetic variation in all genes from all countries affecting human health" and its funding.


1. To ensure progression of the objectives of the Human Variome Project to "collect variation causing disease (mutations) in all genes world wide".

2. To gather experts and leaders in the strategies and systems required, together with those responsible for collecting data and its users.

3. To gather those who are already collecting mutations within their countries and others who wish to establish a system, especially those from developing countries.

4. To present projects currently underway or in the planning stage that contribute to the achievement of the objectives of the Human Variome Project objective.

5. To examine all areas of the implementation and integration of the overall and individual parts of the project.

6. To identify specific new projects and develop formal collaborative groups to undertake the work and to develop standards.

7. To gather those who are experienced in funding to consider optimal ways for the Human Variome Project to move forward and to identify potential funding sources for the projects.

Reports of previous meetings

Information about the last Human Variome Project and the intense "Planning Meeting" that was held in Spain in May 2008 was published in the Open Access article in Human Mutation.

Information about the 1st Human Variome Project meeting held in Melbourne, 2006 :

Registration Fees

Registration fee includes administration costs, coffee breaks, all lunches and the Welcome reception and the Conference dinner.

to 31st March 2010
1st April - 6th May 2010
Late Registration
7th - 10th May


We have arranged accommodation at a number of nearby hotels. Please visit the Accommodation page for more details. Hotels will release rooms blocked for us on 9th April, you will then need to make all arrangments yourself.