Undiagnosed and Rare Liver Disease

Improving Outcomes for Children With Rare Liver Diseases

The Undiagnosed and Rare Liver Disease Center at Cincinnati Children’s focuses on translational and clinical research to improve outcomes and seek a cure for progressive familial intrahepatic cholestasis (PFIC) and related diseases.

By integrating multidisciplinary approaches—including in vitro studies, in vivo modeling, clinical trials, and a comprehensive patient registry—we hope to develop novel therapies and improve diagnostic capabilities for these patients.

We build on the expertise and support from the Liver Care Center at Cincinnati Children’s, recognized by US News & World Report as one of the best pediatric liver care programs in the country.

Working closely with patients and families—from identifying genetic causes for a disease, to making a diagnosis and providing personalized therapies—we are dedicated to finding a cure for PFIC and other rare liver diseases.

Our interdisciplinary team of experts includes basic researchers, physicians and geneticists. Together, we are working to engage patients and families, secure sustainable funding, and foster collaborative research projects.

National Organization for Rare Disorders (NORD) Rare Disease Center of Excellence
Rare Disease Center of Excellence

A Network of World-Class Experts Collaborating to Diagnose and Treat Rare Diseases

As a Rare Disease Center of Excellence, we are committed to solving the greatest medical challenges and unmet needs of the rare disease patient community.