Newborn Screening Test developed for Rare, Deadly Neurological Disorder (IMAGE)
Caption
Soon after birth, a baby's blood is sampled and tested for a number of rare inherited conditions, such as cystic fibrosis and sickle cell anemia. But no such test has existed for a progressive neurodegenerative disease, called Niemann-Pick type C (NPC), that typically is not diagnosed until at least age 2, after neurological symptoms have begun to develop. Now, a study led by Washington University School of Medicine in St. Louis describes a newborn screening test that identifies infants with NPC, an often fatal condition in which cholesterol builds up and eventually destroys brain cells. While there is no cure, early detection and treatment with disease-modifying therapies eventually may save lives and improve prospects for managing the disease in the future.
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US Air Force
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