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Developing countries take the lead in a global program to catalogue human mutations

riants which make people resistant to the effects of the asthma drug salbutamol (known in Australia as Ventolin).

That information should save the Indian government money. Rather than doctors having to give everyone newer and more expensive drugs, only that small proportion of people who carry the gene variation need the expensive version.

Brahmachari's group have also identified two genetic variations that predispose people to schizophrenia (a disease that 1% of people around the world develop).

While researchers like Brahmachari have started making their own collections, the task of the Human Variome Project is to curate a global collection.

It's a "Tower of Babel" problem. For the collection to work, the individual databases have to be able to communicate with each other.

The success will also only be as good as the data. It must be highly accurate (because lives will depend on it); it has to be well organised and searchable, and most importantly there has to be much, much, more of it.

Melbourne's Richard Cotton was given a mandate to create the project the culmination of a ten year dream for the leader of Australia's Genomic Disorders Research Centre.

"Four in five people will be affected by mutations at some time in their lives," says Richard. "That's why it's essential that we document and share all we know about these mutations and their effect on humanity."

The WHO, OECD, European Commission, UNESCO, Google, US National Institutes of Health, and the US Centers for Disease Control all participated in the meeting, which passed a series of motions agreeing to:

  • Collaborate to create a project that will start out by: curating and documenting the two hundred thousand mutations that have already been discovered and which are know to cause disease; then documenting a further two million mutations thought to be directly responsible for disease; an
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Contact: Niall Byrne
niall@scienceinpublic.com
61-352-531-391
Research Australia
5-Jul-2006


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