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Genes Linked to Cardiovascular Disease Identified by Genomics Researchers

November, 28 2000 -- SEQUENOM, Inc. and Gemini Genomics  today announced the first discoveries from their collaboration formed earlier this year, including the identification of two novel genes linked to cardiovascular disease. There was no previously known association of these genes with levels of high-density lipoprotein (HDL) and cholesterol in the blood, key risk factors for heart disease, atherosclerosis and type II diabetes.

These genes were identified using SEQUENOM's MassARRAY(TM) technology and full genome screen approach and Gemini's DNA samples and clinical data covering common human metabolic diseases. The companies will commercialize the results by jointly licensing discoveries to pharmaceutical and healthcare companies for the subsequent development of diagnostics and therapeutics.

In addition to the new gene discoveries, SEQUENOM and Gemini have confirmed several previously known associations between genes and HDL and cholesterol levels. Among the identified associations were markers in the cholesterol ester transfer protein (CETP) and other genes previously correlated with HDL levels. These confirmations validated the novel strategy employed in the collaboration which permits disease gene discovery at an unprecedented rate.

"Cardiovascular diseases cause 12 million deaths in the world each year. Within a very short period of time, SEQUENOM and Gemini have identified major genetic contributors to HDL and cholesterol levels, top risk factors for cardiovascular disease," said Toni Schuh, Ph.D., SEQUENOM's president and chief executive officer. "This information can be used for potential gene-based therapeutics and diagnostic tests for an individual's susceptibility to cardiovascular disease, bringing us one step closer to eliminating costly and painful diagnostic procedures and ineffective drug prescriptions. The early success of this study was based on the unprecedented data quality and efficiency of our MassARRAY system and automated assay design and the quality and consistency of Gemini's clinical resources."

"Gemini and SEQUENOM formed the collaboration in April this year with the objective of initiating the largest commercial, prospective mining operation for gene-disease associations ever undertaken. These first results were obtained less than six months since we began work on the collaboration, much sooner than we had anticipated," said Dr. Paul Kelly, Gemini's president and chief executive officer. "The findings represent a significant breakthrough in our understanding of the causes of cardiovascular disease and offer the very real prospect of developing novel therapeutic and diagnostic solutions for this and other chronic diseases."

Collaboration

Gemini has amassed a vast clinical resource of DNA and associated clinical information that is unparalleled in terms of depth and breadth of human disease coverage. It is this resource, collected with reference to the latest advances in clinical and genetic research within each targeted therapeutic area that provides the potential for partnering with innovative genomics technologies. These partnerships create valuable intellectual property by discovering genes associated with common, chronic human diseases.

For this collaboration, SEQUENOM used its capability to characterize SNPs in pools of hundreds of DNA samples in a single reaction without any further optimization. Through sample pooling, SEQUENOM is able to screen many SNPs across the genomes of many individuals simultaneously to identify SNPs and genes with medical utility rapidly and accurately. This full genome screen approach is possible due to the high data quality of the MassARRAY system.

"SEQUENOM has the ability to analyze SNPs located in virtually all genes of the human genome," said Andreas Braun, M.D., Ph.D., SEQUENOM's chief medical officer. "More than 400,000 SNP assays are already designed that enable a hypothesis-free validation strategy of human genetic variability in disease populations. The collaboration with Gemini is clearly a proof-of-concept for this scientific strategy, which is available to the life science arena."

About Gemini Genomics plc

Gemini (Nasdaq: GMNI) is a clinical genomics company focused on the discovery and commercialization of novel gene-based targets. Gemini's approach integrates comprehensive clinical data and detailed genetic information from a wide range of human population groups, including twins, disease affected families, isolated (founder) populations and drug trial subjects. By investing in leading edge bioinformatics technologies, Gemini is able to effectively apply these resources to the acceleration of disease gene identification, target discovery, and drug development. With offices in the United States, United Kingdom, and Sweden, Gemini aims to maximize revenue generation arising from the commercialization of its discoveries by retaining control over the gene discovery process and taking advantage of the greater potential value offered by later-stage licensing opportunities. For more information about Gemini Genomics, visit the company's website, www.gemini-genomics.com.

About SEQUENOM, Inc.

SEQUENOM (Nasdaq: SQNM) supplies systems and implements programs for the systematic, large-scale validation of genetic variations and their medical utility. The Company is able to complete full genome screens, the analysis of a disease association of many SNPs across all genes in the human genome and in many individuals. SEQUENOM's SNP analysis solution consists of the highly accurate and efficient MassARRAY system, an automated assay development process and assay database, the ability to analyze hundreds of samples in a single reaction and a proprietary DNA bank for a proven health-based concept for genetic marker validation. As a leader in SNP analysis, SEQUENOM has sold 17 MassARRAY systems to customers. SEQUENOM uses its MassARRAY technology with a novel scientific strategy to identify the medical utility of SNPs for diagnostic and therapeutic applications. SEQUENOM is headquartered in San Diego, California with offices in Hamburg, Germany and Boston, Massachusetts.

 

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