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State Lab of Hygiene Identifies First SCID Baby Using New TREC Assay
MADISON, Wis. – The Wisconsin State Laboratory of Hygiene (WSLH) at the University of Wisconsin-Madison has identified the first baby with classical Severe Combined Immune Deficiency (SCID) as part of the state's newborn screening program. In January 2008 Wisconsin became the first state to screen all newborn babies for Severe Combined Immune Deficiency (SCID). SCID babies, if undiagnosed, eventually develop severe life-threatening infections with a 100% mortality rate, usually within the first year of life. With prompt diagnosis and treatment before the infections, SCID is curable when treated by bone marrow transplant. This is the first and only condition on the newborn screening panel that is curable if diagnosed very early in an infant's life. SCID refers to a collection of inherited immunodeficiencies characterized by profound defects of both T cell and B cell arms of the immune system. It is sometimes known as "bubble boy disease". In an extraordinary collaborative effort in 2007, Dr. Mei Baker, science director of the WSLH's Newborn Screening Program, worked closely with Drs. John Routes and William Grossman, both with the Children's Hospital of Wisconsin and Medical College of Wisconsin, to develop a molecular assay that detects the absence of TRECs (T cell Receptor Excision Circles) using dried bloodspots and determined that it was the most effective way to diagnose SCID. TRECs are small pieces of DNA generated in T cells as they mature. Funding for this initiative was provided by the Jeffrey Modell Foundation, Children's Hospital of Wisconsin and the WSLH. "This is the first time a molecular assay is being used as a primary screening test in newborn screening," says Dr. Baker. "The SCID test is a perfect example of applying advanced molecular knowledge and technology in public health newborn screening programs." In fall 2008 the WSLH received a three-year $1.5 million grant from the Centers for Disease Control (CDC). Part of the grant from CDC will be used to train laboratories in other states to perform the TREC assay. "State public health laboratories and newborn screening lead the way in identifying infants with life threatening conditions. This has always been part of our public health mission, and we believe that there will be additional opportunities to expand newborn screening as a result of the work here in Wisconsin," says Dr. Charles D. Brokopp, Director of the Wisconsin State Laboratory of Hygiene. In May, U.S. Department of Health and Human Services Secretary Kathleen Sebelius added SCID to the uniform newborn screening panel, which serves as a guide for what disorders states should include as part of their newborn screening testing programs. Wisconsin screens the more than 70,000 babies born annually in our state for 48 disorders that if left untreated can lead to slow growth, developmental delays, blindness and even death. Posted By: Jan Klawitter, WSLH Public Affairs Manager
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