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Researchers Discover Gene Believed Responsible for Age-Related Macular Degeneration

Published: Mar 11, 2005

BOSTON, DALLAS, Texas and SAN DIEGO, March 10 /PRNewswire-FirstCall/ -- Researchers from Boston University School of Medicine (BUSM), University of Texas Southwestern Medical Center at Dallas (UT Southwestern), and SEQUENOM, Inc. , report the discovery of a genetic variation that is the strongest known risk factor associated for age-related macular degeneration (AMD). Published in the March 10, 2005 online issue of the journal Science, the study entitled "Complement Factor H Polymorphism and Age-Related Macular Degeneration" details the discovery of the gene that may account for approximately fifty percent of the cases of AMD in the population.

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"Considering that AMD is such a common and complex condition with multiple risk factors, we did not expect that we would identify a gene that is responsible for almost half of the cases," said author Lindsay A. Farrer, PhD, chief of the genetics program at BUSM, and a professor of medicine, neurology, genetics and genomics, epidemiology and biostatistics at BUSM.

The biological basis of this disorder, which is the most common cause of blindness in the elderly, is unclear. However, it was strongly suspected that genetics did play a role. The researchers tested single nucleotide polymorphisms (SNPs) for association of AMD in a region of 14 million base pairs on chromosome 1q25-31 where a gene for AMD had been previously localized in families with multiple persons affected with AMD. Using two independent case-control populations, the researchers found that possession of at least one copy of histidine at position 402 of complement factor H (CFH) increased the risk of AMD almost three-fold.

"Given the rapid aging of the population, an estimated 3 million people will have complications of AMD by the year 2020. We hope our findings will create new avenues for developing preventative and therapeutic strategies for AMD," added co-author and retina specialist Albert O. Edwards, MD, PhD, President of the Institute for Retina Research at the Presbyterian Hospital of Dallas, Texas. Edwards conducted his research while on faculty at UT Southwestern.

"We are pleased to be part of this important collaboration with BU School of Medicine and UT Southwestern and that the use of our MassARRAY(R) System in this large-scale association study helped contribute to the discovery of the genetic variations associated with AMD," stated Charles Cantor, Ph.D. SEQUENOM's Chief Scientific Officer. "We recognize that the identified genetic targets may be suitable for molecular diagnostic purposes."

This research was funded by a grant from the National Eye Institute. About Boston University School of Medicine

Boston University School of Medicine is a leading academic and research institution, with an enrollment of nearly 630 students and nearly 2,400 full- time, part-time and volunteer faculty members. The School of Medicine is nationally known for its programs in Alzheimer's disease, arthritis, cardiovascular disease, cancer, human genetics, pulmonary diseases and dermatology, among others. The School is affiliated with Boston Medical Center, its principal teaching hospital, and Boston Veterans Administration Medical Center. Along with Boston Medical Center, the School of Medicine is a partner in Boston HealthNet, a consumer-driven urban health network.

About Presbyterian Hospital of Dallas

Established in 1966, Presbyterian Hospital of Dallas (PHD) has provided nearly 39 years of service and is the anchor hospital of Presbyterian Healthcare System, a part of the faith-based, non-profit Texas Health Resources system. PHD is a recognized clinical program leader, providing technologically advanced care in services to patients in Women and Infants, Cardiovascular, Orthopedic, Neuroscience, Digestive/Surgery, Oncology, and Ambulatory Care. PHD is a regional referral hospital for North Texas and beyond. The 866-bed facility maintains approximately 4,000 employees and an active medical staff of more than 1,000 physicians.

About SEQUENOM

SEQUENOM is committed to providing the best genetic analysis products that translate genomic science into superior solutions for molecular medicine and biomedical research. The Company's proprietary MassARRAY system is a high- performance DNA analysis platform that efficiently and precisely measures the amount of genetic target material and variations therein. The system is able to deliver reliable and specific data from complex biological samples and from genetic target material that is only available in trace amounts.

SEQUENOM(R) and MassARRAY(R) are registered trademarks of SEQUENOM, Inc.

Except for the historical information contained herein, the matters set forth in this press release including statements regarding the creation of new avenues for developing preventative and therapeutic strategies for AMD and further validation for molecular diagnostic purposes, 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 the development and commercialization of any new technology, and particularly those associated with preventative and therapeutic strategies or molecular diagnostics for disease, and other risks detailed from time to time in SEQUENOM's SEC filings, including SEQUENOM's most recently filed Quarterly Report on Form 10-Q and Annual Report on Form 10-K for the year ended December 31, 2003. These forward-looking statements are based on current information that is likely to change and speak only as of the date hereof.

Photo: NewsCom: http://www.newscom.com/cgi-bin/prnh/20040415/SQNMLOGOAP Archive: http://photoarchive.ap.org/PRN Photo Desk, photodesk@prnewswire.comSEQUENOM, Inc.

CONTACT: Amy Caterina, Investor Relations of SEQUENOM, Inc.,+1-858-202-9033, acaterina@sequenom.com; or Gina M. DiGravio, Public Relationsof Boston University, +1-617-638-8491, gina.digravio@bmc.org; or LindaGoelzer, Public Relations of Presbyterian Hospital, +1-214-345-4960,lindaGoelzer@texashealth.org

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