Developing Countries Undertake Cataloguing of Human Mutations

Developing countries have undertaken the lead in a global program to catalogue human mutations in their countries and make it available to anyone with internet access.

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 resource-people.

"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."

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"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."

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Brahmachari's goldmine has already yielded nuggets. They have identified the genetic variants 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; and in the process, creating a resource that can be extended to act as a repository of all information on genetic influences on disease.

. Making the project global in scope, both in data collection and funding.

. Naming the project the "Human Variome Project".

. Giving Richard Cotton and the Genomic Disorders Research Centre a mandate to create the core infrastructure to start the project with the base for the coordinating office located in Melbourne, Australia

"We will be inviting Australian government agencies to contribute the initial seed funding," says Cotton.

"We anticipate that only a few million dollars will be needed for this first stage. Then, based on the enthusiasm we saw at the meeting, we expect the international agencies will rise to the challenge - creating a $50 to $100 million project with the potential to transform the ability of clinicians to identify and prevent diseases with a genetic component - including heart disease, cancers and most genetic disorders."

The first benefits will flow from the project within a year says Cotton. "Researchers, clinicians and patients will be able to quickly access quality controlled data concerning some of the most significant genetic disorders - such as Cystic Fibrosis, Sickle-cell anaemia as well as Cancer and Schizophrenia.

Source: Eurekalert