A flurry of high-profile scientific manuscripts published in October 2005 describe both the content and uses of HapMap, a catalog that maps human genetic variation and relates it both to disease and to human evolutionary history. HapMap gives scientists worldwide a first good look at the “order in variety” that is the human genome.
All these studies are grounded in data presented in a significant paper published in the Oct. 27, 2005 issue of the journal Nature by an international consortium of more than 200 researchers from Canada, China, Japan, Nigeria, the United Kingdom and the United States. In this paper, the authors describe the patterns of genetic variation in hundreds of human DNA samples collected from four sites around the world.
Perhaps the most striking finding in this mountain of data is the overwhelming evidence for previous work that suggested that human genetic variants located physically close to each other in the genome are collectively inherited as groups, or “haplotypes.” The comprehensive catalog of human genetic variation, now known as the “HapMap”, is publicly available to the biomedical research community. The implications – and potential value – of the genome’s haplotype structure for medicine has only begun to be realized.
“Built upon the foundation laid by the human genome sequence, the HapMap is a powerful new tool for exploring the root causes of common diseases. We absolutely require such a resource so that we can develop new and much-needed approaches to understand these diseases, such as diabetes, bipolar disorder, cancer and many others, ” said David Altshuler, director of the program in Medical and Population Genetics of the Broad Institute of Harvard and MIT and associate professor of genetics and of medicine at Massachusetts General Hospital and Harvard Medical School. Altshuler and Peter Donnelly, of the University of Oxford in England, are the corresponding authors of the Nature paper.