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The Human Variome Project Consortium today welcomed the United States of America as the 14th HVP Country Node.

"This is fantastic news," said Professor Richard Cotton, the Project's Scientific Director, "Not only for the Human Variome Project, but also for patients in the United States."

The Human Variome Project is extremely pleased to announce that the Czech Republic has officially signed up to the Human Variome Project Consortium as an HVP Country Node. The Czech Republic joins twelve other countries who have established or are in the process of establishing national genetic variation repositories and that have undertaken to share their data with the international community. We are looking forward to working closely with our Czech colleagues.

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 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

...

Media Release
For Immediate Release

Beijing, 9 December — 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. The Human Variome Project Beijing Meeting is a joint meeting of the international Human Variome Project Consortium and the Human Variome Project Chinese Node. It will focus on increasing opportunities for collaboration between China and the international Human Variome Project, which is run out of Melbourne, Australia.

The meeting was addressed by Mr David Abraham, Chairman of the Board, Professor Xitao Li, Human Variome Project Chinese Node Director, Professor Richard Cotton, Human Variome Project Scientific Director, Mr Ramasamy Jayakumar, Programme Specialist at UNESCO, and, via video message, Professor Peter Doherty, Nobel Laureate and 1997 Australian of the Year. A welcome message from the Australian Foreign Minister, the Honourable Kevin Rudd, was also read.

Earlier this year, the Chinese Government committed US$300 million to meeting the goals of the Human Variome Project. This money will be spent to improve clinical genetics services in China and ensure that complete information on mutations in 5,000 genes from around the world is made freely and openly available. This meeting is the first step in this process that will take almost 10 years to complete.

The Human Variome Project Beijing Meeting will be a forum where with the support of China, the necessary international collaborations can be discussed, debated and formalised. It will continue to address the complex issues of how collaborative projects can be initiated and developed to produce positive clinical and research outcomes and allow the work to start. Meeting participants are drawn from the most prominent and representative experts in each of the relevant disciplines worldwide. The Human Variome Project Beijing Meeting aims to take the Project to the next level of international collaboration by specifically:

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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.

Media Release
For Immediate Release

Melbourne, 18 July — 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).

“This is a major step forward for science in Australia, as well as Human Variome Project International Limited, the International Coordinating Office of the Human Variome Project, based in Melbourne,” said Mr Abraham. He also stated that this is a significant endorsement by the international community of the Human Variome Project, a project that has been promoted by its founder Professor Richard Cotton.

“This is the first scientific project approved by UNESCO in Australia,” said Professor Cotton, “and the first genetics project in the world.”

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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).

Media Release
For Immediate Release

Melbourne, 21 January — China committed to the global fight to eradicate genetic disease today with representatives of the Chinese Government pledging around US$300 million to establish a new institute to directly contribute to the work of the Human Variome Project.

The Human Variome Project is an international consortium of clinicians, geneticists and researchers from over 30 countries led by Professor Richard Cotton, a world renowned expert in the area of genetic variation detection and data collection. It was formally initiated in 2006 at a World Health Organisation sponsored meeting in Melbourne, Australia and seeks to facilitate the establishment and maintenance of standards, systems and infrastructure for the worldwide collection and sharing of all genetic variations effecting human disease. The ultimate goal of the Project is to integrate the systematic collection and sharing of genetic variant information into routine clinical practice.

"This is an unprecedented step forward for the field of genetic health," says Professor Richard Cotton, the Project’s Scientific Director and a Professorial Fellow of the University of Melbourne. "By committing this level of funds directly to achieving the vision of the Human Variome Project, China has shown the world that not only do they recognise genetic disease as a serious global health issue, but that they are serious about addressing it"

With a population of some 1.4 billion people, a quarter of the world’s population, there is a huge amount of genetic diversity within China. The new institute, based in Beijing, will leverage that diversity to build new—and supplement existing—databases that catalogue genetic variation within genes implicated in hundreds of genetic diseases.

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The Human Variome Project is an international consortium of scientists, doctors, informaticists and diagnostic laboratory specialists working towards the complete capture and sharing of information on all genetic variation effecting human disease. The ultimate goal is to see the systematic collection and sharing of genetic variant information integrated into routine clinical practice across the globe. The Human Variome Project was initiated at a World Health Organisation sponsored meeting in Melbourne, Australia in 2006 and believes that the free and open sharing of information on genetic variation and its consequences among scientists and within society allows treatments to be delivered more effectively to patients and new treatments and cures to be developed.

Why do we need the Human Variome Project?

Changes in our genes, both small and large, are a fact of life. They drive evolution, constantly introducing phenotypic variability into the population, ensuring that we, as a species, can adapt to changing environments. However, this same process can also cause disease and illness; from the diseases of childhood: cystic fibrosis, muscular dystrophy, Tay-Sachs disease, to name a few, through to the far more common diseases that occur later in life: cancer, diabetes mellitus, Alzheimer’s disease and hypertension.
The statistics are overwhelming: 60% of all humans will be affected by a mutation in their lifetime1; 71% of admissions to a major US paediatric hospital have an underlying genetic basis2; 50% at the Royal Children’s’ Hospital in Melbourne. This, together with the fact that the incidence of diagnosis of genetic disorders at birth is 1% per annum, is clear evidence that genetic disease is a major health problem.

In the past decade, we have seen some wonderful advancements in the biological sciences that have had a direct impact upon our ability to diagnose and care for sick people. Ten years ago, the human genome was sequenced by the thousands of contributors to the Human Genome Project at a cost of US$3 billion: today, a single individual can sequence a full genome in two weeks for a few thousand dollars. Spurred by technological advancements such as this, the pace of new medical research findings is alarmingly fast. But our ability to capture, understand and share the vast amount of information that is being generated on a daily basis is not keeping up. And when it comes to information—such as what mutations cause what diseases— that directly affects the well-being of real people, then our inability to keep up becomes disastrously evident.

The benefits

If researchers, clinicians, genetic counsellors, and affected families were given fast, reliable access to accurate, up-to-date and complete information on all mutations, it will:

  • enable doctors to rapidly diagnose and inform patients with rare diseases;
  • allow new diagnostics;
  • assist researchers to develop new treatments; and
  • assist in uncovering the causes of common diseases, such as breast cancer and asthma.

How it will be achieved

The ultimate goal of the Human Variome Project is to provide a means of automatically sharing high quality data on every instance of genetic variation. To achieve this, the Human Variome Project is facilitating two avenues of collection, both of which are being piloted successfully by critical field studies.

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China committed to the global fight to eradicate genetic disease today with representatives of the Chinese Government pledging around US$300 million to establish a new institute to directly contribute to the work of the Human Variome Project.

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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Posted by on in HVP Country Nodes

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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From the Boston Globe: Patients who go to Brigham and Women’s Hospital for routine care will soon be asked to provide a blood sample for genetic testing, with the results used to build a massive database to help untangle how genes affect human health.

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.