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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.

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Posted by on in News

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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