Alagille Syndrome

Dr. Rand's research interests include clinical studies of biliary atresia and studies of immunization, immune suppression, and long-term outcome after transplantation. Her basic science interests in liver development and fibrosis are carried out as collaborations with scientists who utilize the liver tissue bank.

In addition to serving as chief of the Division of Gastroenterology, Hepatology, and Nutrition, Dr. Piccoli pursues research about metabolic and genetic liver disease, inflammatory bowel disease, and rare gastrointestinal disorders. He is a member of the group that discovered Jagged1 and NOTCH2 as the primary causes of Alagille syndrome.

Dr. Loomes' research is focused on clinical and translational studies in pediatric liver disease. She works with National Institutes of Health-funded national consortia to conduct studies investigating the etiology and treatment for rare pediatric liver diseases including biliary atresia, Alagille syndrome, and others. Dr. Loomes also collaborates with other investigators at Children’s Hospital of Philadelphia to investigate genetic causes of pediatric liver disease.

Dr. Spinner's research focuses on the etiology and expressivity of pediatric developmental disorders. She uses genomic methods to focus on the multisystem disorder Alagille syndrome and biliary atresia, a likely heterogeneous and poorly understood condition. She is also interested in using genomic tools to continue to improve diagnostic rates for constitutional genetic disorders.