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In April, ten large pharmaceutical companies and the U.K. Wellcome Trust philanthropy announced the establishment of a consortium headed by Arthur L. Holden to find and map 300,000 common DNA sequence variations. The goal is to generate a widely accepted, high-quality, extensive, publicly available map using single-nucleotide polymorphisms (SNPs) as markers evenly distributed throughout the human genome. SNPs can occur in both coding (gene) and noncoding regions.
SNPs may help scientists identify small genetic differences that could predispose people to disease or influence their response to a drug. A SNP map thus may be of great value for biomedical research and for developing pharmaceutical products or medical diagnostics. Also, the map is expected to simplify navigation of the much larger genome map being generated by researchers in the Human Genome Project (HGP).
Consortium Members and Laboratories
The international member companies, which together are committing at least $30million, are Bayer Group AG, Bristol-Myers Squibb Co., Glaxo Wellcome PLC, Hoechst Marion Roussel AG, Monsanto Co., Novartis AG, Pfizer Inc., Roche Holding Ltd., SmithKline Beecham PLC, and Zeneca Group PLC. The Wellcome Trust is contributing at least $14million.
The laboratories searching for SNPs are located at the Whitehead Institute, Sanger Centre, Washington University (St.Louis), and Stanford University. Data management and analysis will take place at Cold Spring Harbor Laboratory, which will scan for sequence matches in public databases to help determine a SNP's genomic location. Other research sites will use various processes. Expectations are to have 150,000 SNPs mapped by mid-2001.
Industry-Sponsored Public Map
The SNP consortium views its map as a way to make available an important, precompetitive, high-quality research tool that will spark innovative work throughout the research and industrial communities. Several groups (including some in the HGP) are working to find SNPs, but the likelihood of duplication is small because of the estimated 3million SNPs in the human genome, and the potential payoff is high.
Because the value of SNP technology is not yet proven for finding subtle genetic differences related to disease and pharmaceutical development, the creation of a joint map distributes the financial risk. If widely accepted, the joint map could serve as an important standard for the U.S. Food and Drug Administration and other regulatory agencies.
The SNP consortium will use DNA resources from a pool of samples obtained from 24 individuals representing several racial groups. This is a subset of the DNA reference panel for SNP identification being collected by the NIH National Human Genome Research Institute. The anonymous, voluntary DNA contributions are made with informed consent specifically for this use.
SNP data will be made available through a consortium Web site (http://snp.cshl.org) at quarterly intervals during the project's first year and at monthly intervals during the second year. SNPs also will be deposited in the public dbSNP database (http://www.ncbi.nlm.nih.gov/SNP/).
The electronic form of the newsletter may be cited in the following style:
Human Genome Program, U.S. Department of Energy, Human Genome News (v10n3-4).
The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.