New stops mapped on the genomic road
The SNP Consortium Ltd., a Bethesda, MD-based collaborative effort among the Wellcome Trust of London and 13 pharmaceutical and technological companies to create a public database of human genetic markers called single nucleotide polymorphisms (SNPs), wants to determine how frequently those minute genetic variations occur in major populations. The database will accelerate use of gene-based technologies in drug development and pharmaceutical research.
The consortium, querying researchers from academia and private industry, studied SNP allele frequency for at least 60,000 SNPs. SNPs occurring in at least 20% of a major population are sufficiently common to be used as genetic markers for navigating the human genome.
"Just as certain diseases are more common in some populations than others, individual SNPs may occur frequently in some populations and rarely in others," says Arthur Holden, SNP Consortium chairman and chief executive officer.
"Without knowledge of allele frequency, one cannot be certain that a set of markers is relevant to a population being studied. The consortium therefore believes that such annotation will enhance significantly the value of the SNP map to the worldwide research community," he explains.
The consortium’s two-year plan includes constructing a map of SNPs that will help pinpoint genetic differences that predispose some people to diseases and underlie individual responses to treatment. So far, 296,990 SNPs have been mapped. (See http://snp.cshl.orgfor details.)
In July, 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. By the end of 2000, the number of SNPs mapped and made publicly available may exceed 750,000.
Human Genome Sciences Inc. in Rockville, MD, plans to initiate human clinical trials of B-lymphocyte stimulator (BlyS) in patients with common variable immunodeficiency (CVID), a serious defect of the immune system. BLyS is an endogenous protein that stimulates the production of antibodies. Patients with CVID produce insufficient amounts of antibodies (immunoglobulins), making them vulnerable to infection. Human Genome Sciences researchers think giving BLyS to those patients will allow them to produce their own antibodies to fight infection. (See www.hgsi.com for more information.)
Companies such as GenMatrix.com offer tools for analyzing the human genome. GenMatrix.com is a leading Internet provider of bioinformatics software solutions for the analysis of DNA sequence data. It recently launched AnalyGen, a suite of bioinformatics Web tools for researchers in academia and industry. The tools are accessible at www.genmatrix.com.
Genomics will be one of the hot topics discussed at the American Society of Health-System Pharmacists’ 35th Annual Midyear Clinical Meeting, Dec. 3-7, in Las Vegas. Seminars will explore the following topics:
- how genomics will influence the future of health care;
- current applications of human gene therapy;
- the impact of genomics on drug discovery and development;
- the ethical implications of advances in genomics.
Next month’s Drug Utilization Review will focus on the effects of gene therapy on pharmacists and the way they practice pharmacy.
Subscribe Now for Access
You have reached your article limit for the month. We hope you found our articles both enjoyable and insightful. For information on new subscriptions, product trials, alternative billing arrangements or group and site discounts please call 800-688-2421. We look forward to having you as a long-term member of the Relias Media community.