[ASC-media] Melbourne leads WHO global mutation initiative

Niall Byrne niall at scienceinpublic.com.au
Tue Nov 29 16:50:44 EST 2005

What’s that mutation?

Melbourne leads WHO global mutation initiative 

An elite group of international geneticists will meet in Melbourne,
Australia, next June to initiate a global project that will catalogue human
mutations and help transform our understanding and treatment of genetic

Victorian Innovation Minister John Brumby announced today that the Victorian
Government will contribute $60,000 to stage the World Health Organisation
sponsored conference. 

The project is the brainchild of Melbourne researcher Professor Richard
Cotton, Director of the Genomics Disorders Research Centre. 

“Ten percent of human disease is caused by inherited mutations,” says
Richard. “Most of us will be affected by inherited mutations at some time in
our lives. 

They have a substantial social and economic cost.” 

“We think there are over two million mutations in the human genome,” says

“Some 100,000 mutations have been discovered. But there is no global system
for collecting and sharing 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 information on mutations, and the damage
they cause, it would transform genetic medicine: 

§	enabling doctors to rapidly diagnose 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 $US5 million 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 to clinicians and
researchers -globally within three to five years.”

The World Health Organisation sponsored meeting in Melbourne will bring 50
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.

John Brumby announced the conference at a business dinner in Toronto,
Canada, today. 

For further information please contact Professor Richard Cotton, ph +61 3
9288 2980,  cotton at unimelb.edu.au or Niall Byrne, ph +61 3 5253 1391,
niall at scienceinpublic.com


Niall Byrne
Science in Public
Ph +61 3 5253 1391
Mobile +61 417 131 977
work email: niall at scienceinpublic.com
private/personal email: niallprivate at scienceinpublic.com 
PO Box 199, Drysdale Vic Australia www.scienceinpublic.com  

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