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Plotting a Course 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.

HapMap Project website: http://www.hapmap.org

An October 27, 2002 press release with additional background information is available at:
http://genome.gov/10005336

Participating groups and their contributions are listed at:
http://www.hapmap.org/groups.html

Contact Information:

United States
Lincoln Stein
Associate Professor
Cold Spring Harbor Laboratory
Cold Spring Harbor, New York
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+1 516-367-8457

Larry Thompson
Chief, Communications and Public Liaison Branch
National Human Genome Research Institute
Bethesda, Maryland
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+1 301-594-0954

Lisa Marinelli
Whitehead Institute/MIT Center for Genome Research
Cambridge, Massachusetts
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+1 617-252-1420

Canada
Anie Perrault
Génome Canada
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+1 613-296-7292

United Kingdom
Don Powell
Media Officer
Wellcome Trust Sanger Institute
Hinxton
Cambridge
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+44 1223 494956

China
Huanming Yang
Beijing Genomics Institute
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+86 10-8049-4969

Japan
Yusuke Nakamura
RIKEN and University of Tokyo
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+81 3-5449-5372

Nigeria
Clement Adebamowo
University of Ibadan
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+234 2-2410995

Charles Rotimi
Howard University
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+1 202-806-5419
 
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