Advanced Diagnostic Test for Severe Combined Immunodeficiency in Newborns

The Immune Tolerance Institute, Sequenom and the University of California, San Francisco to Develop Advanced Diagnostic Test for Severe Combined Immunodeficiency in Newborns
Tuesday, January 13, 2009; Posted: 04:05 PM

SAN FRANCISCO & SAN DIEGO, Jan 13, 2009 (BUSINESS WIRE) — SQNM | Quote | Chart | News | PowerRating — The Immune Tolerance Institute, Inc. (ITI), and Sequenom, Inc. (NASDAQ: SQNM), today announced a collaboration to develop an advanced newborn screening test for severe combined immunodeficiency (SCID) based on the pioneering work of Jennifer Puck, MD, of the University of California, San Francisco (UCSF). A successful feasibility study was recently completed demonstrating the adaptability of Dr. Puck’s RT-PCR screening assay for SCID diagnosis on the MassARRAY(R) platform developed by Sequenom.

“This collaboration goes to the very heart of ITI’s mission by bringing together the best of industry and academia in order to solve a complex medical problem,” said Dr. Louis Matis, ITI’s President and CEO. “Severe combined immunodeficiency is curable by bone marrow transplantation if it is detected early. The goal of our collaboration is to make newborn screening for this rare but deadly disease a reality and alleviate the terrible suffering for these infants and their families.”

“We are very pleased to collaborate with the Immune Tolerance Institute, UCSF and Dr. Puck to significantly improve outcomes for newborns afflicted with devastating SCID,” said Harry Stylli, Ph.D., President and CEO of Sequenom. “At Sequenom we are committed to developing cutting-edge diagnostic tools that will enable physicians to accurately detect serious genetic disorders as early as possible. This application is reflective of the broad applicability of our MassARRAY system and is in line with our goal of increasing Sequenom’s reach in the field of molecular diagnostics.”

“Although universal newborn screening for metabolic conditions is well established, screening for immune disorders is new,” said Dr. Puck, a Professor in the Department of Pediatrics and the Institute for Human Genetics at UCSF, and Program Director of the Pediatric Clinical Research Center within the UCSF Clinical and Translational Science Institute. “Immunologists and public health professionals have recognized the value of SCID screening, but a high-throughput, sensitive, specific and cost-effective test is needed. This collaboration between UCSF, ITI and Sequenom is an ideal way to translate my laboratory research on T-cell receptor excision circles into the clinic.”

Sequenom’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.

For further information on the SCID Screening Project at ITI, please visit or contact ITI at 650-328-8595.

About Severe Combined Immunodeficiency Disease

Severe combined immunodeficiency (SCID) is a spectrum of genetic disorders leading to profound immune system dysfunction. Without intervention, infants with SCID die of infections early in life. SCID infants treated with bone marrow transplantation before experiencing infections have a better than 95% chance of full recovery, whereas those treated after their health has been compromised by severe infections, have much greater morbidity and mortality. In the absence of screening for SCID, most cases are not diagnosed early; in fact, the exact incidence of the disease is unknown since death often occurs without a definitive diagnosis having been made.

About ITI

The Immune Tolerance Institute (ITI) is a 501(c)(3) non-profit organization founded in partnership with the University of California, San Francisco (UCSF) to fill critical unmet needs for translating fundamental scientific discoveries into new diagnostic tools and therapies for the broad range of diseases related to the human immune system, including autoimmune diseases, allergy, asthma, cancer, and cardiovascular and infectious diseases. ITI is a milestone and value-driven company uniquely positioned at the intersection of academia and biopharma that offers a comprehensive constellation of scientific and bio-pharmaceutical industry expertise and services to convert knowledge-based discoveries into market-accessible products for immune system related conditions. At the company’s Center for Critical Path Immunology, established as part of a recently announced collaboration with Beckman Coulter, Inc., multiple technology platforms are being deployed in integrated fashion to perform comprehensive cellular, molecular and immunological assays on specimens obtained from patients during clinical trials of emerging immunotherapeutics. The mechanistic data that are generated from these assays will be analyzed in parallel with clinical safety and efficacy data using cutting-edge bioinformatic approaches that leverage new insights at the nexus of emerging life science and information technologies. This approach to critical path science is designed to shorten development times, reduce both costs and failure rates in drug development and guide better informed patient selection for targeted therapies. The Institute is led by a management team with roots in both biomedical research and the biotechnology industry, and a board of directors including leaders in translational medicine. For more information, visit

About Sequenom

Sequenom is committed to providing the best genetic analysis products that translate the results of genome science into solutions for noninvasive prenatal and genetic diagnostics, biomedical research, translational research and molecular medicine applications. The Company’s proprietary MassARRAY system is a high-performance (in speed, accuracy and cost efficiency) nucleic acid analysis platform that quantitatively and precisely measures genetic target material and variations. The Company has exclusively licensed intellectual property rights for the development and commercialization of noninvasive prenatal genetic tests for use with the MassARRAY system and other platforms. For more information on Sequenom, please visit the company’s Web site at

Sequenom(R) and MassARRAY(R) are trademarks of Sequenom, Inc.

About UCSF

The University of California, San Francisco, UCSF, is a leading university dedicated to promoting health worldwide through advanced biomedical research, graduate-level education in the life sciences and health professions, and excellence in patient care. (

Safe harbor

Except for the historical information contained herein, the matters set forth in this press release, including statements regarding the expectations of, intentions of, goals of, and future impact of the collaboration to develop an advanced newborn screening test for SCID, and Sequenom’s goal of increasing its reach in molecular diagnostics, 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 new technology and product development and commercialization particularly for new technologies such as molecular diagnostics, reliance upon the collaborative efforts of other parties such as ITI and UCSF, research and development progress, competition, intellectual property protection, government regulation, obtaining or maintaining regulatory approvals, and other risks detailed from time to time in the Company’s SEC (U.S. Securities and Exchange Commission) filings, including the Company’s Annual Report on Form 10-K for the year ended December 31, 2007 and other documents subsequently filed with or furnished to the SEC. 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 the Company 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.

Immune Tolerance Institute, Inc. Louis A. Matis, M.D. 203-292-6940 or Rx Communications Group Eric Goldman (media) 917-322-2563 or Sequenom, Inc. Paul W. Hawran, Chief Financial Officer 858-202-9000 or Investor Relations Contact Lippert/Heilshorn & Associates Jody Cain / Kevin McCabe, 310-691-7100 or Media Relations Pure Communications Sheryl Seapy, 949-608-0841

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