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“Bubble boy” rapid diagnostic

This article was originally published in The Gray Sheet

Executive Summary

Newborn screening test validation study is under way, using 5,000 blood samples from Maryland state health lab in Baltimore, National Human Genome Research Institute explains Feb. 22. Developed by NHGRI researchers, the blood test measures the number of rings within a maturing T-cell linked to receptor gene activity. Newborns with severe combined immunodeficiency (SCID) tend to have 30 rings or fewer, compared with a 1,000-average in healthy babies, NHGRI researchers find. A hurdle for the test's commercialization is the 1.5% false-positive rate, which NHGRI's Jennifer Puck, MD, concedes as "too high to be practical for screening." SCID affects roughly one in every 50,000-100,000 births, according to NHGRI...

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