Mapping a road to understanding human health

International HapMap Project begins the cartography of human genome variation

Tracking down genes involved in health and disease and the response of patients to therapies is a principal goal of contemporary biomedical research. In the December 18 issue of Nature, the International HapMap Consortium describes the new tools and approaches it has developed that will enhance the ability of scientists to identify disease-related genes and to develop corresponding diagnostic and therapeutic measures.

Individual predisposition to disease and differential response to therapies are determined in part by variations in DNA sequence scattered throughout our genetic sequence called single-nucleotide polymorphisms, or SNPs. Many regions of the human genome bear common, telltale variations in DNA sequence that are termed “tag SNPs.” One goal of the International HapMap Project is to map the locations of representative tag SNPs in DNA samples from human populations with ancestry from parts of Africa, Asia, and Europe.

Dr. Lincoln Stein, a bioinformaticist at Cold Spring Harbor Laboratory in New York whose group is one of the major participants in the HapMap project said, “The results of the HapMap project will increase the power and reduce the cost of future large-scale genetic association studies and thereby significantly speed the discovery of genes involved in cancer, heart disease, and other common ailments.”

Dr. David Bentley, Head of Genetics at the Wellcome Trust Sanger Institute in Cambridge (UK) and the leader of another major group involved with the project said, “The HapMap will be applicable to a broad range of medical conditions that have a genetic component, including common human diseases. Because it is vital that such a resource is readily available, the groups contributing to this international project will release their data and the resulting map of variation as a public resource. In that way, we anticipate the maximum medical benefit will accrue in the most rapid fashion.”

The HapMap Project is an international collaboration involving researchers in the United States, Canada, China, Japan, Nigeria, and the United Kingdom. The results generated will be applicable to all human populations, and will be available to researchers around the world.

The $120 million project was officially announced in October 2002 and is expected to take three years to complete.

Since the announcement of the project, DNA samples have been obtained and substantial amounts of variation data have already been mapped and released. Preliminary analyses of the data confirm the utility of the HapMap. The study published in Nature describes in detail the project’s scientific goals and methods.