· Landmark study creates “user’s guide” to the human genome; will aid in finalizing the assembly of the genome and in applying genomics to create better medicine.
· Leverages deCODE’s genealogical resources, genotyping capabilities and software; results and data made freely available to the research community.
· Showcases the capacity that deCODE uses to isolate high-quality targets for drug development and diagnostics.
Reykjavik, ICELAND, June 9, 2002 — A paper by a team of scientists from deCODE genetics (Nasdaq/Nasdaq Europe:DCGN) presenting the highest-resolution recombination map of the human genome ever developed will be published tomorrow in the online edition of the scientific journal Nature genetics. Entitled “A high-resolution recombination map of the human genome,” the paper represents a necessary step for enabling more detailed analysis of the genetics of human disease and thus an important new resource for applying genomics to create better medicine. It is also a major contribution to efforts to refine the assembly of the sequence of the human genome. The paper will be available tomorrow on the internet at www.nature.com.
The study provides the locations of more than 5,000 polymorphic microsatellite markers, which are used as signposts in the genome for locating genes linked to diseases or other conditions. The locations of approximately 2 million SNPs, or single-letter variations in the genome, have also been determined with reference to this accurate new framework. Genetic maps have been used extensively in human genetics to assist in the mapping of disease genes and to help with the assembly of the human DNA sequence. However, previous maps have been “coarse grained,” simply because of the limitations of the resources used to create them. Based on a much larger sample size, deCODE’s map has about 5 times greater resolution than those in use today. This resolution has also enabled the deCODE team to create detailed maps specific for each sex. These revealed interesting information about the location and control of recombination — the genetic shuffling that takes place in each generation — and dramatic differences between recombination rates and patterns in men and women.
“This is a major achievement in human genetics and we are proud to be able to make our results and data available to researchers around the world,” said Dr. Kari Stefansson, CEO of deCODE and one of the lead authors. “It is a validation of the power of deCODE’s resources and the quality of our science.”
“The availability of the sequence of the human genome provided an enormously valuable tool for genomic research. However, the sequence data themselves provide only the beginning. Our study is the obligatory next step: a high-resolution framework for analyzing how and where the genome changes between generations. This is critical for tracking genes and mutations influencing health, either contributing to or protecting against disease,” Dr. Stefansson added. “At deCODE we have used our unrivalled expertise in genotypic analysis to locate major genetic factors in more than twenty common diseases. We constructed this high-resolution genetic map because we needed to refine our marker sets for our own research. And while we will continue to enjoy the research advantages of our proprietary resources, we also felt that it was important to make the data in this study available to the scientific community. Our improved marker and SNP data suggest where the assembly of the human sequence can be improved and will provide valuable tools for everyone working to apply genetics to develop new methods for fighting disease and promoting health. This underscores the effectiveness of our genetics operation, which has as its goal to discover genetic variations that cause the common diseases of Man. These variations provide a key to the discovery of drug targets and diagnostic markers of unprecedented quality.”
Along with the microsatellite and SNP location data, the paper provides 104 suggested modifications to the August 2001 ‘freeze’ of the human genome assembly. One of the findings that emerged as a result of the sex specific maps, is that recombination – the shuffling of chromosomal material that occurs in the formation of sperm and eggs and creates significant genetic variation between parents and offspring – does not occur evenly or randomly across the genome. Rather, recombination rates vary widely and frequently across each chromosome, and increase in inverse proportion to the size of the chromosome. Strikingly, the recombination rate in women is on average 1.6 times that in men, and varies significantly both between women and between offspring of the same mother. This does not, however, seem to apply to men. As recombination likely plays an important role in evolution, these results suggest that women may play a bigger role in evolution than do men. These systematic differences also suggest that recombination is influenced by factors outside the genome.
deCODE’s study utilized the company’s unique combination of resources for studying human genetics: the world’s largest genotyping facility, genealogical data covering the entire Icelandic population, and proprietary software for analyzing genotypic data from large sample groups. The deCODE team constructed the map by genotyping 869 volunteers, consisting of parents and offspring from 146 Icelandic families, with 5,136 microsatellite markers placed across the genome. This framework provided approximately five times the resolution of the current standard map. By following how these markers were passed from parents to their children, deCODE scientists were able to gain detailed and unprecedented insight into how these markers were passed from parents to offspring and thus where recombinations occurred. With these data it was possible to precisely pinpoint the genetic and physical location of the microsatellite markers on the chromosomes. Using that framework, the location of some two million known SNPs was then also determined.
deCODE genetics is using population genomics to create a new paradigm for healthcare. With its uniquely comprehensive population data, deCODE is turning research on the genetic causes of common diseases into a growing range of products and services — in gene discovery, pharmaceuticals, DNA-based diagnostics, pharmacogenomics, in silico discovery tools, bioinformatics and medical decision support systems. deCODE is delivering on the promise of the new genetics.SM Visit us on the web at www.decode.com.
Any statements contained in this presentation that relate to future plans, events or performance are forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. These forward-looking statements are subject to a number of risks and uncertainties that could cause actual results to differ materially from those described in the forward-looking statements. These risks and uncertainties include, among others, those relating to technology and product development, integration of acquired businesses, market acceptance, government regulation and regulatory approval processes, intellectual property rights and litigation, dependence on collaborative relationships, ability to obtain financing, competitive products, industry trends and other risks identified in deCODE’s filings with the Securities and Exchange Commission. deCODE undertakes no obligation to update or alter these forward-looking statements as a result of new information, future events or otherwise.