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Sequenom Announces Publication Acceptance of Manuscript From Age-related Macular Degeneration Validation Study

SAN DIEGO, April 28, 2011 /PRNewswire/ -- Sequenom, Inc. (NASDAQ: SQNM), a life sciences company providing innovative genetic analysis solutions, today announced the acceptance for publication of the manuscript, "Clinical Validation of a Genetic Model to Estimate the Risk of Developing Choroidal Neovascular Age-related Macular Degeneration." The article will appear in the June issue of Human Genomics. The study, conducted by the company's wholly-owned subsidiary, Sequenom Center for Molecular Medicine (Sequenom CMM), was modeled using approximately 2000 case and control samples obtained from the University of Iowa, the University of Utah, Harvard University, Columbia University and the University of Melbourne.  


The successful completion and peer reviewed acceptance of this study for publication coincides with the introduction of RetnaGene™ AMD, a laboratory developed test (LDT) to assess the risk of developing Choroidal Neovascularization (CNV), the wet form of age-related macular degeneration (AMD), a common eye disorder of the elderly that can lead to blindness. The comprehensive set of genetic markers genotyped at the study centers were tested in a model to demonstrate the clinical validation of RetnaGene AMD LDT, providing the first commercial validation performed on a large collection of patients specifically targeting CNV.

"The LDT was designed to provide the most accurate assessment of risk based solely on genetic markers that are static through life and avoided inclusion of self-reported variables (e.g. smoking history) or non-static factors (BMI, education status) that might otherwise introduce inaccuracies in calculating a patient's risk of disease," said the lead author of the study, Dr. Gregory Hageman, John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah.

"Identifying an increased risk of developing wet AMD in the elderly population should help retinal specialists tailor the management of individual patients via the design and implementation of personalized regimens. This could potentially lead to improved detection of wet AMD at an earlier stage, before much vision loss has occurred," said Dr. Ronald Lindsay, Executive Vice President of Research and Development at Sequenom.  

Sequenom CMM plans to exhibit at the 2011 Association for Research in Vision and Ophthalmology (ARVO) annual meeting May 1-5. Sequenom CMM will also present its results of the analytical validation of the LDT performed using both blood and buccal swabs.  In February 2010, Sequenom CMM entered into an exclusive worldwide licensing agreement with Optherion, Inc. to develop and commercialize tests to predict genetic predisposition to late stage AMD.

Other contributing principal investigators included Karen Gehrs, M.D., Center for Retina and Macular Disease, Winter Haven, FL; Margaret M. DeAngelis, Ph.D., John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah;  Robyn H. Guymer, M.D., Ph.D., and Paul N. Baird, Ph.D., Centre for Eye Research Australia, Royal Victorian Eye & Ear Hospital, University of Melbourne, Australia; and Rando Allikmets, Ph.D., Departments of Ophthalmology and Pathology and Cell Biology, Columbia University, New York City.

About AMD

AMD is an insidious progressive eye disorder that starts with relatively harmless tiny yellow deposits on the retina (the light sensitive tissue in the eye) and increases in prevalence and severity with age. Neovascular or 'wet AMD', develops in 10 to 20% of all cases, causes profound loss of central vision and is the leading source of legal blindness in people over age 50 in the developed world. It is caused by abnormal growth of fragile and leaky blood vessels (choroidal neovascularization or 'CNV') in the macula (a small area where vision is keenest at the center of the retina) in response to chronic inflammatory stress.

A predictive test that identifies patients at higher than average risk to develop wet AMD has the potential to improve clinical management by transforming surveillance protocols and improve therapeutic decision-making. A patient's knowledge about being at higher risk also makes it easier to take certain preventative steps such as no longer smoking, and switching to a healthier diet rich in vitamins, antioxidants, certain carotenoids, and omega-3 fatty acids. Smoking and diet are reported to be among the most important modifiable risk factors associated with AMD.

Incidence of AMD

AMD is the most common cause of visual impairment and the leading cause of blindness in the elderly population in the developed world, the prevalence of which increases with advancing age. It is estimated that there are currently 9.1 million patients in the USA with AMD, 1.7 million suffering with the vision-threatening late stage complications of choroidal neovascularization (CNV) or geographic atrophy. Moreover, it is predicted that the number of cases of early AMD will increase to 17.8 million by 2050 and if untreated, cases of late-stage blinding AMD will increase to 3.8 million.

About Sequenom

Sequenom, Inc. (NASDAQ: SQNM) is a life sciences company committed to improving healthcare through revolutionary genetic analysis solutions. Sequenom develops innovative technology, products and diagnostic tests that target and serve discovery and clinical research, and molecular diagnostics markets. The company was founded in 1994 and is headquartered in San Diego, California. Sequenom maintains a Web site at to which Sequenom regularly posts copies of its press releases as well as additional information about Sequenom. Interested persons can subscribe on the Sequenom Web site to email alerts or RSS feeds that are sent automatically when Sequenom issues press releases, files its reports with the Securities and Exchange Commission or posts certain other information to the Web site.

Sequenom Center for Molecular Medicine

Sequenom Center for Molecular Medicine (Sequenom CMM®) is a CAP accredited and CLIA-certified molecular diagnostics laboratory dedicated to the development and commercialization of laboratory-developed genetic tests for prenatal and ophthalmic conditions. Utilizing innovative proprietary technologies, Sequenom CMM provides test results that can be used as tools by clinicians in managing patient care. Testing services are available only upon request by physicians. Sequenom CMM scientists work closely with key opinion leaders and experts in obstetrics, retinal care and genetics. Our scientists use a variety of sophisticated and cutting-edge methodologies in the development and validation of tests. Sequenom CMM is helping to advance patient care with the power of molecular diagnostics. Visit for more information on laboratory services.

The RetnaGene™ AMD laboratory developed test was developed and its performance characteristics determined by the Sequenom Center for Molecular Medicine laboratory. It has not been cleared or approved by the U.S. Food and Drug Administration (FDA). This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA '88) as qualified to perform high complexity clinical laboratory testing.

Sequenom®, Sequenom® Center for Molecular Medicine® and RetnaGene™ are trademarks of Sequenom, Inc.

©2011 Sequenom Center for Molecular Medicine.

Forward-Looking Statements

Except for the historical information contained herein, the matters set forth in this press release, including statements regarding Sequenom's expected acceptance of samples and product launch and timing thereof for its RetnaGene™ AMD laboratory developed test, the expected publication of the manuscript "Clinical Validation of a Genetic Model to Estimate the Risk of Developing Choroidal Neovascular Age-related Macular Degeneration" in the June issue of Human Genomics, the expected use, application, impact, and the potential for improved patient care, associated with the RetnaGene™ AMD laboratory developed test, Sequenom's plans for exhibition and presentation at the 2011 Association for Research in Vision and Ophthalmology annual meeting, predictions regarding the number of cases of early AMD and late-stage blinding AMD in the future, Sequenom's commitment to improving healthcare through revolutionary genetic analysis solutions and dedication to development and commercialization of laboratory-developed genetic tests for prenatal and ophthalmic conditions, are forward-looking statements within the meaning of the "safe harbor" provisions of the Private Securities Litigation Reform Act of 1995. These forward-looking statements are subject to risks and uncertainties that may cause actual results to differ materially, including the risks and uncertainties associated with reliance upon the collaborative efforts of other parties, Sequenom's ability to develop and commercialize new technologies and products, particularly new technologies such as AMD, prenatal and other diagnostics and laboratory developed tests, Sequenom's ability to manage its existing cash resources or raise additional cash resources, competition, intellectual property protection and intellectual property rights of others, government regulation particularly with respect to diagnostic products and laboratory developed tests, obtaining or maintaining regulatory approvals, ongoing litigation and investigations and other risks detailed from time to time in Sequenom, Inc.'s most recent Annual Report on Form 10-K and other documents subsequently filed with or furnished to the Securities and Exchange Commission. These forward-looking statements are based on current information that may change and you are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date of this press release. All forward-looking statements are qualified in their entirety by this cautionary statement, and Sequenom, Inc. undertakes no obligation to revise or update any forward-looking statement to reflect events or circumstances after the issuance of this press release.

SOURCE Sequenom, Inc.
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