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Media Release
For Immediate Release

Paris, 11 May – Some 200 researchers are taking part in the third Human Variome Project meeting which began at UNESCO headquarters on 10 May. The Director-General of UNESCO, Irina Bovoka, has granted the Organization’s patronage to the meeting, which is focused on how human genetic variation data can be collected and shared and used to develop treatments against disease.

The Human Variome Project is an international consortium of researchers committed to reducing the burden of genetic disease on the world’s population. The consortium believes that the collection of information on every instance of a genetic variation and its effect on human health is the only way that the vision can be achieved. The sharing of information on genetic variation and its consequences among scientists and within civil society allows existing treatments to be delivered more effectively to patients and new treatments and cures to be developed.

The complete sequencing of the human genome met with worldwide acclaim, not only because a significant mountain had been climbed but because scientists acquired the potential to simplify the analysis of both non-inherited and inherited genetic disease. The next frontier is the discovery and documentation of all variations present in human genes so that the results of the Human Genome can be put to practical use for disease treatment and prevention. The Human Variome Project, gathering and sharing genetic variation data, aims to make this happen.

"UNESCO wishes to underline the importance of utilizing basic research to meet societal needs and bringing together scientists and civil society for dialogue and co-operation" said Walter Erdelen, UNESCO Assistant Director-General for Natural Sciences, in his welcoming address to the meeting. “The multidisciplinary nature of the Human Variome Project, which includes scientists and practitioners from different disciplines (molecular biologists, geneticists, clinicians, epidemiologists, bioinformaticians and IT specialists), allows for basic research findings to be accessible to and useful for clinicians and the people they serve.”

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Welcoming Address by Mr Walter Erdelen  UNESCO Assistant Director-General for Natural Sciences at the Human Variome Project Implementation & Integration Meeting

UNESCO, 11 May 2010

Excellencies,
Ladies and Gentlemen,

On behalf of the Director-General of the Untied Nations Educational, Scientific and Cultural Organization, let me welcome you to this, the third Human Variome Project Meeting on Implementation and Integration.  I would first like to emphasise how important this Meeting is – by bringing together scientists from around the world to identify, through research, the variations in genes that cause inherited and non-inherited diseases.

UNESCO’s main objective is to contribute to peace and security in the world by promoting collaboration among nations through education, science, culture and communication and information. Established in 1945, UNESCO is the sole agency in the UN System having a unique mandate for the sciences, the “S” in UNESCO.  The Organization acts as an advocate for science, as a platform for sharing ideas and standard setting, and promotes dialogue between scientists and policy makers.

It empowers and catalyses innovative initiatives in the field of international cooperation in science, in particular through networks and capacity building activities.

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HVP3: Implentation and Integration commences at UNESCO with an opening address by Assistant Director-General Walter Erdelen and a plenary lecture from Sir John Burn

Individuals who work in the area to collect and share human variation information are invited to nominate either themselves or others for membership of the Human Variome Project’s interim Scientific Advisory Committee.

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Membership of the Human Variome Project Consortium is now available

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The Human Variome Strategic Plan is availble to view.

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News from the Human Variome Project Coordinating Centre

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.

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Dates for the next Human Variome Project Conference released

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Researchers go global on genes for advancement of research

The Human Variome Project was recently a feature in Science Magazine in their Policy Forum section.

Media Release
STRICT EMBARGO 6AM FRI 7 Nov
News Editors, News Desks
Issued: Thursday 06 Nov

An Australian led global initiative to improve the diagnosis of genetic disorders and reduce errors in the reporting of genetic variations will be published in the prestigious scientific journal Science on Friday 7 November (AUS).

“There is a staggering close to 40 percent error rate in some reporting of genetic variations,” says Professor Richard Cotton, lead author of the paper, Convenor of the Human Variome Project and honorary researcher at the University of Melbourne. 

“This means clinicians and specialists cannot solely rely on the research literature to inform the life and death decisions of diagnosis and prognosis of genetic disorders.”

Over 60 percent of people worldwide will be affected by a genetic change at some point in their lives that can result in a range of diseases such as cystic fibrosis, epilepsy and cancer.

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