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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.

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On February 29th, the entire Human Variome Project Consortium is commemorating Rare Disease Day—an international grassroots advocacy day to raise recognition of rare diseases as a global health challenge. We invite everyone around the world, to join with us and other groups within their own country in recognising both the challenge of rare diseases and the good work being done by millions of researchers, healthcare professionals, patients and their families and carers around the world.

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Media Release
For Immediate Release

Beijing, 13 December — The Human Variome Project Beijing Meeting wrapped up yesterday after five days of high level talks between members of the Human Variome Project Consortium and the Human Variome Project Chinese Node. The meeting focussed on encouraging new international collaborations that will enable the world’s genomic knowledge to be shared in a bid to improve global health. A particular focus of the meeting was how low- and middle-income countries can be supported.

The meeting also saw the official opening of the Human Variome Project Chinese Node, a multi-million dollar initiative of the Chinese Government to dramatically improve the country’s capacity in medical genetics, genetic diagnostics and genetic counselling. The Human Variome Project Chinese Node has also committed to undertaking 25% of the total effort required to complete the Human Variome Project, a figure in line with their contribution to the world’s population.

At the close of the meeting the Human Variome Project Consortium released a joint statement with the Human Variome Project Chinese Node, reaffirming their commitment to the free and open sharing of genetic disease in a manner that protects the privacy and dignity of patients and their families. The Human Variome Project next meets at UNESCO headquarters in Paris in June, at their fourth biennial meeting.

ENDS

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The Human Variome Project Beijing Meeting wrapped up yesterday after five days of high level talks between members of the Human Variome Project Consortium and the Human Variome Project Chinese Node.

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

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The Human Variome Project Beijing Meeting was officially opened this morning at a ceremony involving many local dignitaries including former Ministers of Health and Science.

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The Chairman, Mr David Abraham, and the Scientific Director, Professor Richard Cotton are delighted to announce that Human Variome Project International Limited has been admitted into operational relations with UNESCO (United Nations Educational, Scientific and Cultural Organisation).

The Human Variome Project is pleased to announce that Belgium and Egypt have joined with the Human Variome Project to create HVP Country Nodes.

Media Relase
For Immediate Release

Washington, 2 November — The Human Variome Project today announced that it had exceeded some very important milestones set out in its Project Roadmap 2010-2012 by officially partnering with consortiums to coordinate the collection of genetic data from four countries: China, Kuwait, Malaysia and Australia. “We are very happy to have formed these valuable partnerships so quickly after the release of our Project Roadmap,” said Professor Richard Cotton, the Project’s Scientific Director and a Professorial Fellow of the University of Melbourne, Australia.

“The consortiums from these four countries have initiated what we are calling HVP Country Nodes: secure repositories of all the genetic variants being discovered in the diagnostic laboratories of individual countries,” said Cotton.

HVP Country Nodes will not only be valuable sources of information to inform better diagnostic decisions and healthcare planning within the countries possessing nodes, but will also share portions of their datasets with international gene and disease specific databases.

“This is exactly the kind of work the Human Variome Project was conceived to support,” said Cotton, “The free and open sharing of genetic data across national and cultural boundaries. However, we still need to be sensitive to the different legal and ethical landscapes that are out there. That’s what makes the concept of HVP Country Nodes so powerful: each country gets to control how their data is collected and how it is shared.”

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The Human Variome Project today announced that it had exceeded some very important milestones set out in its Project Roadmap 2010-2012 by officially partnering with consortiums to coordinate the collection of genetic data from four countries: China, Kuwait, Malaysia and Australia.

Professor and Mrs de Kretser, Members of Parliament and other distinguished guests, ladies and gentlemen---

First, I would like to thank Professor and Mrs de Kretser for hosting this function on behalf of the Human Variome Project and in fact those families with inherited diseases. These diseases are often invisible and under-resourced in the community.  The project, large but necessary, aims to collect all faults in all genes and their effects from all countries.

Second, I would like to thank all those both in Australia and in over 30 countries the world over, including the World Health Organisation and UNESCO, who have given enthusiastic and passionate support to the Human Variome Project.  This support has been given because the benefits the project will deliver, are essential for proper genetic healthcare, and indeed this support grows daily.   Many of the enthusiastic Australian supporters are in the room today and we thank them all.

Finally, I would like to thank people who are involved with critical project to show how this project can be accomplished.  Professor Finlay Macrae of the Royal Melbourne Hospital leads an international effort on inherited colon cancer genes and Professor john Coghlan who chairs a project for Australia, funded by the Federal Government and which is driven by Heather Howard.  David Abraham from the CASS Foundation is thanked for chairing the support group.

I now would like to introduce Professor Ingrid Winship, Professor of Adult Genetics, University of Melbourne to explain why the Human Variome Project is essential for the proper delivery of genetic healthcare.

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It’s wonderful to see so many of you here to support the Human Variome Project. Let me tell you why I have been a strong advocate from the beginning. The Human Genome Project, completed half a century after Watson and Cricks discovery of DNA, signalled a new era in medical research. We now had a roadmap of all the genes and thus of all the proteins that make all function in health and disease. Moreover the information was freely available to any investigator anywhere in the world. However, one major piece of the jigsaw puzzle was missing. We are all interested in what makes up a person – but we’re even more interested in what makes people different. That’s on of the reasons we’re all so fascinated by identical twins we marvel at the likeness. Well the reasons for differences between people are mutations in the genes. That’s why we need to study mutations. We have to detect mutations and curate the information and correlate what we have found with disease processes, particularly genetic diseases. We need to disseminate what we have learnt throughout the medical and scientific community. To avoid people all over the world wastefully re-inventing the wheel, we need a central registry of all this information, standing shoulder to shoulder with the Human Genome Project as an equal partner and equally and freely accessible. In other words, we need the Human Variome Project. This is not just an academic exercise. When we know what gene has gone wrong in a disease we can soon find and study the relevant protein and possibly devise a prophylactic approach, or even a cure.

Well then, why Dick Cotton? Simply put, he is the most imaginative and productive scientist in the world in the field of mutation detection. He is in command of every aspect, every nuance and saw the need for a global project firs of all. He was has the backing of UNESCO, of the World Health Organisation and of most of the international experts in human genetics and genomics. He has a well developed and articulate plan of modest cost.

And why Melbourne? Few cities are as well placed to host this enterprise. Wee have a plenitude of extraordinary medical research institutes and universities. We have a first class position in bio-informatics. We have a remarkable Children’s Hospital and clinical genetics service. We have the Australian Synchrotron to guide the pathway from protein to therapeutics. We have an amazing $100Milllion new supercomputer. We are planning one of the great comprehensive cancer centres of the world. We have a small but thrusting and growing bio-technology industry. Typically for Australia, all these elements and sectors are brilliantly networked internationally in a friendly, non-threatening way.

Dick Cotton is the man, Melbourne is the place, now is the time. Let’s make the Human Variome Project happen, for the benefit of all humanity.

Thank You

Governor, Mrs de Kretser, Ladies and Gentlemen.

My name is David Abraham. I am a Director of The CASS Foundation but otherwise when it comes to the Human Variome Project, I am a layperson. The Human Variome Project can deliver better health outcomes, speedier diagnosis, speedier and more effective treatment, and saves money, lives and personal and family suffering. It is already starting to do this, both in Australia and internationally. My role tonight is to tell you what you can do for the Human Variome Project. I will briefly touch on 4 areas: - Firstly why me and why you? Secondly, why Victoria and why Melbourne? Thirdly, why you should not assume your Government will provide the necessary funds. And lastly, what you can do to assist?

As I said, I am a Director of The CASS Foundation. We fund medical and science research and some education projects. We were introduced to the Human Variome Project a few years ago. We were told that the mapping of the Gene had been a major advance but now it was critical to map the defects in the gene if diagnosis and treatment of many diseases was to be effective, both here in Australia and worldwide. This could make a serious difference. It was described to me that the Human Variome Project was like a wheel, the spokes were each gene project of research, such as colorectal cancer, or Cystic Fibrosis, or in fact so many of the illnesses from which we will inevitably suffer, and that the Hub of the wheel was the coordinating office that set the protocols for collection of the data, and therefore the nerve centre for this project. Knowledge, and access to this knowledge, is critical. I understood this description. My Wife, who is here tonight, and I had 2 God children, both with Cystic Fibrosis. The first, who was born in London, was always a sick child. The second born 2 years later in Melbourne, was immediately diagnosed and treated leading to the oldest then being diagnosed and treated. But he always struggled and later as a young man succumbed. The younger survives today and leads a productive life and is a father himself. But everyone in this room is the same as me. You each know of a family member or a friend who suffers from a sickness that can be traced to a gene defect.

Secondly, why Victoria, why Melbourne? We should understand that Melbourne is recognised as a leading centre for research and innovation. We are able to fight above our weight on the international stage. I was able to attend an International forum in Melbourne a few years ago that eagerly endorsed the establishment of the Human Variome Coordinating office in Melbourne. This again occurred in Paris in May this year under the auspices of UNESCO. The Office could go anywhere, but I am parochial enough to say Melbourne should not lose this opportunity to lead the world and with the guidance of Professor Dick Cotton and his team, that is the endorsed approach of the international professionals in this area and it is a tremendous endorsement of the efforts to date. After all, the Europeans do not want it housed in the US and vice versa, but, and it is a big but, we need to make it happen in Melbourne.

Thirdly, the role of Government. There is a perception that Government gives money for this type of project. Naturally we need Government assistance and in an election year I would hope that more assistance will be forthcoming. But Government seems to find it difficult to fund what is not a pure research project. What we need to do is to convince members on both sides of politics that the Human Variome Project is a fantastic platform that encourages research, that collates and collects and makes available information that inevitably leads to speedier and better diagnosis, better treatment, less cost and relieves suffering. Government has helped, but we do need urgent and increased funding to continue the work of the coordinating office. We also need to demonstrate to the rest of the world community that we in Melbourne can succeed with this important project.

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Monday 2nd August, 2010

Acknowledgments:

Members of Parliament

Professor Richard Cotton
Head of the Genomic Disorders Research Centre at the Florey Neurosciences Institutes
and Mrs Elizabeth Cotton

Sir Gustav Nossal
Emeritus Professor in the Department of Pathology at The University of Melbourne

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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.

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The 3rd Human Variome Project Meeting concluded today with a strong statement by the participants that the Human Variome Project should come under the joint auspices of UNESCO and WHO.

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.

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.