Novel Technology Designed to Optimize Early Detection of Potentially Fatal Immune System Dysfunction in Infants

The Immune Tolerance Institute, Sequenom and the University of California, San Francisco to Develop Advanced Diagnostic Test for Severe Combined Immunodeficiency in Newborns

16-Jan-2009 - USA

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(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."

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