Scientists from six countries are to begin work on a major new project to identify human genetic variations associated with common diseases, it was announced last week. The US National Institutes of Health (NIH) has secured funding of $100 million over the next three years for the work, which has been dubbed the 'HapMap Project'. Researchers will study DNA samples from 200-400 people to try and uncover the genetic differences linked to illnesses such as heart disease, cancer and diabetes.
Since the publication of a consensus human genetic code two years ago, scientists have been seeking to identify the variations that predispose people to common diseases. The HapMap project will look for genetic markers that have been inherited together in a block over many generations, indicating that they are physically close to each other.
To identify these 'haplotype blocks', researchers will study people from China, Nigeria, Japan and the US. Between them, these populations are thought to represent the majority of human genetic variation. It is hoped that scientists will then be able to pinpoint genes involved in, for example, diabetes, by looking for slight differences in these haplotype blocks in people with the disease.
The project will build on recent efforts to pinpoint single-letter variations in the human genetic code, known as SNPs (single-nucleotide polymorphisms). Scientists will be able to focus their attention on subsets of SNPs likely to be involved in a particular disease, once data from the HapMap project has narrowed down the regions of interest. As it becomes available, information from the project will be made available to the entire
scientific community via the Internet. 'Essentially, the HapMap is a very powerful shortcut that represents enormous long-term savings in studies of complex disease' said Dr David Bentley of the Sanger Institute in the UK.