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From 20 to 23 June, Melbourne will
host an elite group of international geneticists, I’m writing to give you early notice of the event because:
1.
some of the key participants will be willing and able to talk to the
media about some
2.
we will be using the event to highlight the impact that mutations have on
human 3. we hope that the meeting will conclude with the announcement of a plan to create a global database of human mutations (variomes), and headquarter it here in Melbourne. The meeting is sponsored by the WHO and will be attended by representatives of the OECD, European Commission, UNESCO, Google and the US Centers for Disease Control. Key participants in the conference include:Sir Walter Bodmer, Oxford University – one of the creators of the Human Genome Project. His team is now looking at human variation including § remnants of Viking genes in the Scots; § evidence in Central Asia confirming that humans first migrated out of Africa and then only dispersed into Europe and the Orient some 30,000-50,000 years ago. Charles Scriver, McGill University, Montreal – Scriver also a creator of the Human Genome Project, was a pioneer in using vitamin D to prevent rickets, and in screening programs to detect genetic and nutritional diseases in newborns especially phenylketonuria. As a result of his work, Quebec’s health care system was the first in the world to provide a system for identifying and treating genetic diseases. Michael Katz, USA – runs the global programs of the March of Dimes. Founded by Roosevelt to fight polio, the March of Dimes is working to give all babies a fighting chance against the threats to their health: prematurity, birth defects, low birthweight – a huge challenge in the developing world. Michael is a passionate advocate for mass vaccination of children and young people in order to prevent birth defects in newborns. Richard Gibbs, Baylor College, Houston – born in Warrnambool and educated in Melbourne, Richard was part of the Human Genome Project team, and now heads one of the world’s largest gene sequencing efforts. His group is exploring the human genome as well as the cow, rat, honey bee, sea urchin, rhesus macaque, the orang-utan and, in conjunction with Melbourne researchers, the wallaby genome. About the meetingThe Melbourne meeting and the project are the brainchild of Melbourne researcher Professor Richard Cotton, Director of the Genomics Disorders Research Centre. “Ten percent of any human disease is caused by inherited mutations,” says Richard. “Sixty percent of us will be affected by mutations at some time in our lives. Mutations have a substantial social and economic cost.” “We think there are over two million mutations directly causing disease in the human genome,” says Richard. “Some 100,000 mutations have been discovered. But there is no systematic global system for collecting and sharing complete and accurate information on these mutations with clinicians around the world. And 95 percent of human mutations are yet to be discovered,” he says. “If we could give researchers, clinicians, genetic counsellors and affected families fast reliable access to up to date and accurate information on mutations, and the damage they cause, it would transform genetic medicine by: § enabling doctors to rapidly diagnose and inform patients with rare diseases; § allowing new diagnostics; § helping researchers develop new treatments for hundreds of genetic diseases including cystic fibrosis and thalassemia; § assisting in uncovering the causes of common diseases such as breast cancer and asthma. “In 1991 I started the journal Human Mutation. I was shocked to discover that no one was responsible for collecting information on mutations. So I used the journal to promote ways of collecting and making information available on a small scale. But now, in the aftermath of the Human Genome Project, it’s time to do the job properly,” Richard says. “It’s time for a global human variome (human gene variation) project,” Richard says. “I see the Melbourne meeting as a major step towards establishing this project.” It will require around $US60 million over five years to establish the project. “With a concerted effort, I believe that we could have the system set up to document mutations and make the information available globally to clinicians and researchers within three to five years.” The Melbourne meeting will bring 55 of the world’s authorities on mutations and other related DNA variations together to plan how information should be collected, validated, stored, and made available to the world. The conference will be opened by one of the world’s most eminent geneticists Sir Walter Bodmer FRS of Oxford, UK. The Commonwealth government has contributed over $100,000 towards the conference and planning. The Victorian government have contributed $60,000 along with contributions from The Melbourne University, The CASS Foundation, Myer Foundation and the Ian Potter Foundation. |
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enquiries: please contact the people and organisations mentioned in our media
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