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ITI, Sequenom and UCSF to Develop Advanced Diagnostic Test for Severe Combined Immunodeficiency in Newborns
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ITI, Sequenom and UCSF to Develop Advanced Diagnostic Test for Severe Combined Immunodeficiency in Newborns

ITI, Sequenom and UCSF to Develop Advanced Diagnostic Test for Severe Combined Immunodeficiency in Newborns
News

ITI, Sequenom and UCSF to Develop Advanced Diagnostic Test for Severe Combined Immunodeficiency in Newborns

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

"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.

Dr. Puck continued, "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 measures the amount of genetic target material and variations therein. The system is able to deliver specific data from complex biological samples and from genetic target material that is only available in trace amounts.
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