CSC researchers publish landmark 30-year study on Crigler-Najjar syndrome
Posted on April 16, 2020
STRASBURG, PA- A new study summarizes more than 30 years of clinical experience and describes the clinical course of 28 individuals homozygous for damaging mutations in the UGT1A1 gene who were born between 1984 and 2015 with Crigler-Najjar syndrome. This morbid and life-threatening disorder is characterized by high levels of toxic bilirubin in the blood which can lead to irreversible brain damage or death. The study yields novel insights about the pathophysiology of bilirubin encephalopathy, demonstrates principles of effective phototherapy, and provides a framework to judge emerging molecular therapies. The project was a broad collaborative effort led by clinicians and researchers at the Clinic for Special Children (CSC) and appears in the journal Hepatology.
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