The Immune Tolerance Institute, Inc. (ITI), and Sequenom, Inc. 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 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.

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.

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.

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 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.