Results for Alagille Syndrome

1 - 10 of 10

Dr. Krantz's lab identifies and characterizes the molecular etiology of syndromic and non-syndromic developmental disorders. He has identified genes for several genetic conditions (Cornelia de Lange Syndrome, CHOPS syndrome, Alagille syndrome, hearing loss) implicating critical molecular pathways in human disorders for the first time. He has been at the forefront of studying the integration of genomics into clinical settings.

E-mail:

krantz [at] chop.edu

Nancy B. Spinner, PhD

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.

E-mail:

spinner [at] chop.edu

David A. Piccoli, MD

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.

E-mail:

piccoli [at] chop.edu

Kathleen Loomes, MD

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.

E-mail:

loomes [at] chop.edu

Elizabeth B. Rand, MD

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.

E-mail:

rand [at] chop.edu

Coming Full Circle: From Former Patients to Future Scientists

Published on

Aug 23, 2022

in Cornerstone Blog

Two former CHOP patients are working in the labs of the scientists who helped them when they were young.

Three Key Questions for Breaking Into Translational Research

Published on

Dec 5, 2017

in Cornerstone Blog

Collaborating with clinicians and getting involved with patient advocacy groups can help basic scientists connect their benchwork to the bedside.

Spinner Laboratory

Research in the Spinner Lab focuses understanding the etiology and expressivity of pediatric developmental disorders. The lab uses genomic methods to focus on the multisystem disorder Alagille syndrome and biliary atresia, a likely heterogeneous and poorly understood condition.

Fred and Suzanne Biesecker Pediatric Liver Center

Researching the causes of liver diseases and new ways to treat children with these disorders using a bench-to-bedside approach that integrates clinical care, clinical research, and basic science research.

Krantz Laboratory

The Krantz lab focuses on identifying molecular etiologies of multisystem developmental diagnoses, structural birth defects, and intellectual disability. Using cellular and animal models, the investigators study newly identified genes towards identification of therapeutic targets.