In a paper in the Oct. 27 issue of the journal Nature, more than 200 researchers from Canada, China, Japan, Nigeria, the United Kingdom and the United States describe the initial results from their public-private effort to chart the patterns of genetic variation that are common in the world's population. The results provide overwhelming evidence that variation in the human genome is organized into local neighborhoods, called haplotypes, that usually are inherited as intact blocks of information.
At the project's outset in October 2002, the consortium set an ambitious goal of creating a human haplotype map, or HapMap, within three years. The Nature paper marks the attainment of that goal with its detailed description of the Phase I HapMap, consisting of more than 1 million markers of genetic variation, called single nucleotide polymorphisms (SNPs). The consortium is also nearing completion of the Phase II HapMap that will contain nearly three times more markers than the initial version and will enable researchers to focus their gene searches even more precisely on specific regions of the genome.
"This represents a milestone for medical research. Built upon the foundation laid by the human genome sequence, the HapMap provides a powerful new tool for exploring the root causes of common diseases. Such understanding is required for researchers to develop new and much-needed approaches to prevent, diagnose and treat diseases, such as diabetes, bipolar disorder, cancer and many others, " said David Altshuler, M.D., Ph.D., of the Broad Institute of Harvard and MIT in Cambridge, Mass., who along with Peter Donnelly, Ph.D., of the University of Oxford in England
Contact: Geoff Spencer
NIH/National Human Genome Research Institute