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Mr Chairman, fellow Board members, members of the Human Variome Project Consortium.

Last November, the Human Variome Project held the first ever meeting of the International Confederation of Countries Advisory Council in my home city of Beijing. Representatives from all twelve HVP Country Nodes, as well as representatives from many human genetics societies, met to discuss one thing: how to get information on genetic variants and their effect on patients out of countries and into international databases so that global health can be improved.

It is a difficult problem, and it is a problem that we must solve together in order for the Human Variome Project to be judged a success. Our genome is the common thread that binds humanity. Information about our genome must therefore belong to all of humanity. There is no way to justify the retention of this information within national borders. No one country can discover all there is to know about our genome on their own. No one country has a large enough population to find anywhere near the total amount of variation possible. It is only by working together that we will know enough to make a difference to human health.

But this information does not exist in a vacuum. It must be generated. DNA must be sequenced, variants must be classified and phenotypes described. And it is an unfortunate reality that not every country has the technical or knowledge capacity to be able to do this routinely and effectively. Usually, as I’m sure we can all agree, diversity is a thing to be celebrated. But the huge diversity that is present in the world’s ability to provide adequate genetic healthcare is a problem and needs to be improved.

If we look to the mission of the Human Variome Project, it states that we are working to alleviate needless human suffering for many millions of the world’s people by facilitating the collection, curation, interpretation and sharing of data on genetic variation. This facilitation can come in many forms. Yes we are primarily concerned with producing standards and guidelines for databases. But the Human Variome Project has always recognised the need to assist researchers and healthcare professionals who are working to build capacity in their own countries.

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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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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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