New NOTCH2 gene mutations identified as likely Alagille cause
Researchers in Italy have identified 10 new mutations in the NOTCH2 gene, which has been linked to Alagille syndrome, in nine children and one…
Andrea Lobo, PhD, Science Writer — 
Articles by Andrea Lobo
Seven new ABCB11 gene mutations identified as cause of PFIC2
Seven new ABCB11 gene mutations were identified as the likely cause of progressive familial intrahepatic cholestasis (PFIC2), according to a study that analyzed the…
Atypical biliary tract abnormalities found in Alagille syndrome baby
A six-month-old baby with Alagille syndrome showed atypical biliary tract abnormalities, including a narrower main bile duct and a gallbladder with a corkscrew-like shape,…
Blood biomarkers may aid newborn cholestasis diagnosis: Study
Measuring blood levels of bile acids, a component of bile, and the gamma-glutamyl transferase (GGT) enzyme may aid newborn cholestasis diagnosis by distinguishing between…
Dupilumab works as itching treatment in Alagille case: Report
The use of dupilumab, an approved anti-inflammatory antibody-based treatment, worked to ease itching, known medically as pruritus, in a young woman with Alagille syndrome…
Certain fatty molecules may help diagnose liver disease in pregnancy
Blood levels of certain fatty molecules, called short-chain fatty acids (SCFAs), in pregnant women may help diagnose intrahepatic cholestasis of pregnancy (ICP), according to…
Gut bacterium B. longum linked to better biliary atresia outcomes
Levels of Bifidobacterium longum (B. longum), a well-known probiotic, in the gut are significantly reduced in children with biliary atresia, a study in Taiwan…
PFIC therapy IN016 earns FDA’s rare pediatric disease designation
The U.S. Food and Drug Administration (FDA) has granted rare pediatric disease designation to IN016, Innorna’s experimental therapy that aims to address the root…
Abuse suspected for skin bruising in case of PFIC2 liver disease
An 8-month-old girl with type 2 progressive familial intrahepatic cholestasis (PFIC2) who was seen at a hospital emergency department with extensive skin bruising was suspected…
Intrahepatic cholestasis of pregnancy risks mothers, newborns
Pregnant women with intrahepatic cholestasis of pregnancy (ICP) have an increased risk of other pregnancy-related problems, including gestational diabetes and preeclampsia, or sudden high…
