Skip to main content

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.

Posted by on in News

Membership of the Human Variome Project Consortium is now available

Posted by on in News

The Human Variome Strategic Plan is availble to view.

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.

Posted by on in News

Dates for the next Human Variome Project Conference released

Posted by on in News

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.

...