Another 200,000 novel single nucleotide polymorphisms released
"The SNP Consortium has exceeded its objectives, mapping roughly twice as many SNPs as originally projected, all within a shorter period of time," says Arthur Holden, chairman and CEO of The SNP Consortium. "The availability of this more extensive SNP map, sooner than expected, will enable medical scientists in industry, academic, government, and independent laboratories to accelerate the pace of their own research efforts."
The consortium's SNP data set can be accessed via the Internet, both through The SNP Consortium's website (http://snp.cshl.org), and "dbSNP" (http://www.ncbi.nlm.nih.gov/SNP), a public database maintained by the National Institutes of Health's National Center for Biotechnology Information.
Formed in April 1999, The SNP Consortium's initial two-year plan had been to map at least 150,000 SNPs, evenly distributed throughout the genome. The consortium has been able to exceed this target as the amount of human genetic sequence data available through the efforts of the Human Genome Project has increased significantly.
In July 2000, The SNP Consortium and the Human Genome Project announced a collaborative effort to generate a new set of human DNA sequence information that will contribute up to 250,000 additional SNPs. It is now anticipated that The SNP Consortium will complete all necessary sequencing by September 30, and that by year-end the total number of SNPs mapped and made publicly available may exceed 750,000.
Single nucleotide polymorphisms, which occur roughly every thousand bases throughout human DNA, are valuable genetic markers because of their simplicity, frequency, and relatively even distribution throughout the genome. A high-density map of these genetic signposts will allow researchers to navigate the genome more quickly and efficiently, in search of genes associated with disease. By comparing SNP patterns in various patient and control populations, medical researchers hope to identify genetic differences that predispose some but not others to diseases, and that underlie variability in individual responses to treatment.
A SNP map that is extensive, reliable, widely accepted, and freely available to medical researchers worldwide is expected to enhance understanding of disease processes and facilitate discovery, development and delivery of safer and more effective treatments. Ultimately, SNP technology may lead to the development of "personalized medicine," in which disease prevention strategies and treatments are more closely tailored to an individual's genetic profile.
Already, third parties have made use of The SNP Consortium's data in efforts to detect and analyze associations between SNPs and various disease states.
The SNP Consortium is organised as a non-profit entity whose goal is to create and make publicly available a high-quality SNP map of the human genome. The Consortium's members include the Wellcome Trust, the world's largest biomedical research charity; 10 pharmaceutical companies including AstraZeneca, Aventis Pharma, Bayer, Bristol-Myers Squibb, F. Hoffman-La Roche, Glaxo Wellcome, Novartis Pharmaceuticals, Pfizer, Searle (now part of Pharmacia), and SmithKline Beecham; and Motorola, IBM, and Amersham Pharmacia Biotech. Academic centers including the Whitehead Institute for Biomedical Research, Washington University School of Medicine in St. Louis, the Wellcome Trust's Sanger Centre, Stanford Human Genome Center, and Cold Spring Harbor Laboratory are involved in SNP identification and analysis. Orchid BioSciences performs third-party validation and quality control testing on SNPs identified through the consortium's research.
For more information, contact Mary Prescott or Jeanne Corrigan of BSMG Medical & Health Communications at 312-397-6604, or email mprescot@bsmg.com or jcorrigan@bsmg.com.
Edited by Laura DeFrancesco
Managing Editor, Bioresearch Online