Diagnostic for Biliary Atresia
Genetic biomarkers that distinguish biliary atresia from other causes of neonatal cholestasis.
Technology Overview
Histological features can identify biliary obstruction in 90.7% of cases, but with a 79-98% variability among individual pathologists. As a consequence, the diagnosis requires intraoperative cholangiogram to evaluate duct obstruction. To develop a non-invasive diagnostic, 15 unique genes linked exclusively to differential expression in Biliary Atresia (BA) have been discovered. IL8 and LAMC2 alone were sufficient to distinguish BA from non-BA. Combining the two genes to generate their first principal component, ROC-AUC, was 0.934 (95%CI: 0.84-1.03), with a sensitivity of 96.9% and specificity of 85.7%. This implies that although the initial list of 15 genes differentiated BA from non-BA, this can also be accomplished with the combined expression levels of only IL8 and LAMC2 while maintaining high sensitivity and specificity.
Applications
- Diagnosis of biliary atresia
- Differentiation of neonatal cholestasis patients
Advantages
- Non-invasive
- Improves consistency of diagnosis
Market Overview
Neonatal cholestasis is a rare disease affecting about one in 2,500 live births, and the incidence of biliary atresia is estimated to be one in 8,000 to 20,000 infants.
BA is the most common cause of severe neonatal liver disease, and if left untreated children usually die within the first two years of life.
Investigator Overview
Jorge Bezerra, MD, Division of Gastroenterology, Hepatology and Nutrition
Technology ID
2014-0420
Business Opportunity
Non-Exclusive License
Stage of Development
Pre-Clinical - Human