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

Access to this information could transform the outcomes for many people in developing countries.

For a sample of the expected rewards, look at the work of Professor Raj Ramesar, a professor at the division of human genetics at the University of Cape Town.

Ramesar studied the genes of a family who suffered from a heredity eye disease, which led to their becoming gradually blind.

Ramesar's team traced the gene defect down to an enzyme Carbonic Anhydrase. It turned out there was a drug on the market that targeted this enzyme. Now family members use that drug, successfully halting their progression to blindness.

The variome project will provide information on this, and on four thousand other genetic disorders known to be directly caused by mutations, making it rapidly available to anyone with internet access.

In Delhi, Samir Brahmachari, the director of the Institute of Genomics and Integrative Biology, has mobilised his country's richest resourcepeople.

"In this respect India and the developing world are resource rich," said Brahmachari. "The human variome project is a chance for developing countries to participate fully and determine their research agenda."

"People who say the developing world should just focus on infectious diseases and water have got it wrong. If we don't keep an eye on the future we'll always be 50 years behind."

The reason developing countries are so 'genetically rich' is that they are composed of multiple populations that are genetically similar--a result of people marrying within their tribal groups. Genetically similar people are a goldmine for teasing out gene-disease relationships, which is why companies like DeCode Genetics are mining the population of Iceland. But says Brahmachari, "We are like a thousand Icelands."

Brahmachari's goldmine has already yielded nuggets. They have identified the genetic va
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Contact: Niall Byrne
niall@scienceinpublic.com
61-352-531-391
Research Australia
5-Jul-2006


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