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  • South has 'key role' studying genetic links to disease


Researchers in developing nations are at the forefront of global efforts to develop a database of information about how human genetics influences disease.

The Human Variome Project, launched at a meeting in Melbourne, Australia last month (20-23 June), will gather information on 4,000 diseases caused by faulty genes and make the data publicly available over the Internet.

Developing nations will have a key role to play in the project because they are often have populations that are genetically similar due to people marrying within ethnic groups. This makes the task of finding single genes with links to disease easier.

At the meeting, researchers in India and South Africa were praised for their efforts to date.

Raj Ramesar of the University of Cape Town in South Africa studied the genes of a family with a hereditary eye disease that gradually causes blindness.

He found that the family had a mutation in their gene for an enzyme called carbonic anhydrase. By using a drug that targets this enzyme, and that was already on the market, the family halted their progression to blindness.

In India, researchers identified which genetic variants stop the asthma drug salbutamol from working effectively.

The finding by Samir Brahmachari, director of the Institute of Genomics and Integrative Biology in Delhi, and colleagues could allow India to test people to see whether they need alternative drugs.

Brahmachari's team also identified two genetic variations that predispose people to schizophrenia.

"The Human Variome Project is a chance for developing countries to participate fully and determine their research agenda," he said.

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

The Human Variome Project will document the 200,000 mutations of human genes that are known to cause disease and a further two million that scientists also suspect are linked to illness.

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