Contact: Mary Prescott 1-312-397-6604, [email protected]
Jeanne Corrigan 1-312-397-6610, [email protected]
THE SNP CONSORTIUM MAKES FIRST SET OF GENE MARKERS PUBLICLY AVAILABLE
- More than 2,000 Novel Single Nucleotide Polymorphisms (SNPs)
Now Accessible to Medical Researchers Worldwide -
- SNP Map To Aid Discovery and Development of Safer and More Effective Therapeutics -
Chicago (November 23) -- The SNP Consortium Ltd., a collaborative effort to create a database of genetic markers called single nucleotide polymorphisms (SNPs), today released into the public domain approximately 2300 newly identified and characterized SNPs. These data thus become available for the free and unrestricted use of biomedical researchers worldwide.
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/), a public database maintained by the National Institutes of Health's National Center for Biotechnology Information.
"Members of the SNP Consortium believe that a high-quality SNP map will prove to be an essential tool for understanding the genetic basis of disease, and as such, should not be subject to intellectual property restrictions," says Arthur Holden, chairman and chief executive officer of The SNP Consortium. "Today's data release is the first of many we plan over the next two years as we work to construct a SNP map that is extensive, reliable, widely accepted, and freely available to medical researchers in industry, academic, government and independent laboratories. We are very excited about this contribution and its impact on speeding up effective pharmacogenomic research within the life sciences sector."
Single nucleotide polymorphisms -- or SNPs (pronounced "snips") -- are minute genetic variations that occur throughout human DNA. Their value as genetic markers resides in their simplicity, frequency, and relatively even distribution throughout the genome (the full set of genetic instructions, encoded in long strands of DNA). Of the roughly 3 billion nucleotide pairs (i.e., the "letters") that make up the genetic code, it is estimated that a SNP -- a single letter variation in the code from one person to the next -- occurs every thousand or so nucleotide pairs.
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. In turn, this knowledge 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.
The SNP Consortium intends over two years to identify 300,000 and map at least 150,000 SNPs, evenly distributed throughout the genome. To date, the Consortium has identified over 15,000 candidate SNPs. The data set released today comprises 2279 SNPs that have been mapped to the locations where they occur on the chromosomes. Protocols for quality assurance indicate a greater than 95 percent confidence level in the validity of the data (that is, that the genetic code indeed varies from one person to another by a single letter at the site of each SNP). Subsequent releases of data will occur as additional SNPs are mapped and their authenticity verified.
As it is constructed, the SNP map will be made publicly available to medical researchers worldwide at the same time it becomes available to members of the Consortium, according to Lincoln Stein, MD, PhD, of the bioinformatics program at Cold Spring Harbor Laboratory, the group responsible for managing the Consortium's SNP database.
The SNP Consortium -- an innovative collaboration among industry, the world's largest medical research charity, and several leading academic institutions -- is organized 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, Motorola BioChip Systems, and ten pharmaceutical companies: AstraZeneca PLC, Bayer AG, Bristol-Myers Squibb Company, F. Hoffmann-La Roche, Glaxo Wellcome PLC, Hoechst Marion Roussel AG, Novartis, Pfizer Inc, Searle, and SmithKline Beecham PLC.
Academic centers including the Whitehead Institute for Biomedical Research, Washington University School of Medicine in St. Louis, the Wellcome Trust's Sanger Centre, and the Stanford Human Genome Center are involved in SNP identification and mapping. The bioinformatics program at Cold Spring Harbor Laboratory organizes, analyzes, and manages the resulting SNP database, and oversees dissemination of the information contained in the database.
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