Gene-Mappers Take New Aim at Diseases

tratto da The New York Times 30 Oct 2002

A $100 million project to develop a new kind of map of the human genome was announced today by an international consortium. Its goal is to hasten discovery of the variant genes thought to underlie common human diseases like diabetes, asthma and cancer.

The consortium includes government agencies from Japan, China and Canada, and The Wellcome Trust of London. Its largest contributor, from the United States, is the National Institutes of Health, which is investing $39 million over the project's three years.

The map will be constructed by analysing the genomes of people in four ethnic groups: Japanese, Chinese, the Yoruba people of Nigeria, and Americans of Northern and Western European descent. If these four groups do not capture a thorough enough pattern of human variation, more may be added later.

The principle underlying the map is a discovery about the human genome made only a year ago by Dr. Mark J. Daly and colleagues at the Whitehead Institute in Cambridge, Mass. They found that human DNA has been inherited generation after generation in large, unchanged blocks, up to 100,000 units in length, from the ancestral human population and, contrary to what had been assumed, has not yet been thoroughly mixed by the vigorous shuffling of DNA from the maternal and paternal chromosomes that takes place between generations.

These large blocks of DNA are known as haplotypes, and the new map, called the International HapMap, will chart the location of these blocks throughout the human genome. Dr. Eric Lander, Dr. David Altshuler and other members of the Whitehead Institute have rapidly expanded on Dr. Daly's discovery, and the N.I.H. has boldly built the hapmap project around it.

The goal of the hapmap is not to find disease genes directly, but to create a general tool that will allow others to do so. It is designed to work in general populations and does not require patients to be related to one another, unlike the basis of the Decode approach in Iceland.




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