Blog

Today is a sad day. Our colleague, collaborator, champion and friend, Professor David Rimoin, Inaugural Chair of our International Scientific Advisory Committee, passed away after a brief battle with pancreatic cancer.

David was a true friend of the Human Variome Project. Despite his many other commitments: Director of the Medical Genetics Institute and Steven Spielberg Family Chair in Pediatrics Cedars-Sinai, Professor of Pediatrics, Medicine, and Human Genetics at the David Geffen School of Medicine at the University of California, Los Angeles, David's support and work for the Human Variome Project was tireless. David's tenure as the first Chair of the Project's International Scientific Advisory Committee was incredibly productive. In this role he oversaw the establishment and growth of the Human Variome Project Consortium to include over 700 individual members, twelve HVP Country Nodes and 33 gene/disease specific databases. David was also particularly instrumental in starting discussions around establishing an HVP Country Node in the United States.

David will be sorely missed by every member of the Human Variome Project Consortium. His energy and enthusiasm for the Project, and for the field of medical genetics, was evident to all who were lucky enough to meet him. At our meetings, he was always a leading voice in every discussion. He will be missed, and our upcoming 4th biennial meeting in Paris in just a few short weeks, will not be the same without him.

Our thoughts are with David's family at this time.

The international Human Variome Project Consortium and the Human Variome Project Chinese Node

Recognising that our genes are fundamental to human life and diversity and are a common thread that binds all peoples and cultures,

Emphasising that the free and open sharing of information on genetic variations and their effects will improve human health by enabling faster, cheaper and more accurate diagnosis, therapy and treatment,

Recalling that Article 1 of the UNESCO Universal Declaration on the Human Genome and Human Rights states, “The human genome underlies the fundamental unity of all members of the human family, as well as the recognition of their inherent dignity and diversity,”

Noting that the mantra of the Human Variome Project is sharing data · reducing disease, and

Today, it was recognised by the delegates of the international 3rd Human Variome Project Meeting that the aims of the Human Variome Project have strong synergies with the aims of UNESCO Natural Sciences Sector.  In this regard, delegates noted, in particular, the UNESCO strategy of promoting international multidisciplinary programmes in order to reinforce intergovernmental and partner organisation cooperation to strengthen national capacities in the basic sciences and science education. Parallels were also observed with the objectives of the World Health Organisation for expanding the role of genetics in medicine and health.  Delegates agreed that, in the area of genetics and bioinformatics,  the objectives of UNESCO and WHO can be addressed through the formation of international collaborative efforts such as the Human Variome Project to create sound and just frameworks from which to further the research and application of genomic technologies. It was seen that joint endorsement and advocacy of the Human Variome Project by both UNESCO and WHO would advance the work of the Human Variome Project—collecting, curating, organising and sharing variation data—which, in turn, will encourage global collaborations and improve health services worldwide through translation of scientific research to meet societal needs.   Delegates at the meeting therefore charged the Human Variome Project Coordinating office with the task of moving  forward a dialogue with UNESCO and WHO with the view to exploring possibilities for the Project to come under the joint auspices of the two Organisations.

In the past two months we have had the opportunity to speak with Patrick Willems of GENDIA several times regarding the proposed mutaDATABASE project. We commend Patrick for the energy and vigour with which he is approaching the challenges that the Human Variome Project was created to address. The mutaDATABASE project is an ambitious undertaking that would eventually see a locus specific database in operation for every human gene. Obviously, this is a goal that is shared by the Human Variome Project.

However, there exists a substantial amount of overlap between aspects of the mutaDATABASE project and several other initiatives being run or facilitated by the Human Variome Project, the Human Genome Variation Society and GEN2PHEN. As one of the core values of the Human Variome Project is “efficiency” we strongly urge all of these overlapping initiatives to combine their efforts to minimise wasteful duplication of effort. The upcoming Human Variome Project meeting (http://www.humanvariomeproject.org/meetings/paris/) would be an ideal opportunity for a substantial discussion on these issues.

The Human Variome Project strongly supports all efforts to reduce the amount and severity of the burden of genetic disease on Human Society and actively encourages all projects designed with this objective in mind. It is only through working together, as a consortium, as a discipline, and as a planet, that we will accomplish our goals and alleviate some of the worst of human suffering.

The Genomic Disorders Research Centre, the coordinating office of the Human Variome Project, is pleased to announce that abstracts are now being accepted for consideration by the scientific committee of the 3rd Human Variome Project Meeting. This meeting will formally discuss the next steps for the Human Variome Project, focussing on 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 now being discovered. Abstract submissions are invited from anyone interested in collaborating in this area. 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. All abstracts will be sent to the Session Chairs for discussion, even in cases where the authors are unable to attend.

Background

The 3rd Human Variome Project Meeting is being held from the 10th to the 14th of May, 2010 at the UNESCO Headquarters, 7 place de Fontenoy, Paris, France.

The Genomic Disorders Research Centre, the Coordinating Office of the Human Variome Project, is pleased to announce the next step in the Human Variome Project’s evolution, the Project Roadmap has been completed and ratified by the Project’s International Planning Group. The Project Roadmap 2010–2012 is now available to be viewed at the Human Variome Project website. The Project Roadmap 2010–2012 serves multiple purposes. It:

• clarifies the definition of the Human Variome Project;
• outlines an overarching strategic vision for the Human Variome Project;
• documents the new internal structure for the Human Variome Project Consortium; and
• outlines several internal processes for the creation and adoption of Standards, Guidelines and Partner/Affiliated projects.

In line with the new internal structure for the Human Variome Project Consortium, nominations are now called for an interim international Scientific Advisory Committee which will be elected by the delegates of the 3rd Human Variome Project Meeting, which is being held from the 10th to the 14th of May, 2010 at the UNESCO Headquarters, 7 place de Fontenoy, Paris, France. Nominations can be made by visiting the Human Variome Project website.

We would also like to thank the members of the international Planning Group for their time and effort over the past four years. They have been instrumental in bringing the Human Variome Project to this stage, from where it can now move forward as a mature entity to assist those people working with inherited disease.