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Cost-effective screening of a deadly disease in newborns

 

Narrator:       This is Science Today. A pediatrician from the University of California, San Francisco, has pioneered a cost-effective screening method for a deadly immune disease that affects newborns. It's called severe combined immunodeficiency, or SCID, and recently, the disease was both costly and difficult to detect.

Puck:             Since there are so many, we can't identify the individual mutations and therefore we have to think of a way to find babies with SCID without relying on their particular DNA make-up.

Narrator:       Dr. Jennifer Puck devised a screening method that used the same dried blood sample already being collected at birth to detect a host of other genetic conditions. As of last August, all babies born in the state of California were screened for SCID using Puck's method, and about a dozen have already been identified as having the disease.

Puck:             Just in the first six months we have found so many cases of SCID that the frequency here in California is about two to three times what people were estimating before the screening program started.

Narrator:       For Science Today, I'm Larissa Branin.