Undiagnosed and Rare Liver Disease
Research Programs

Research to Help Diagnose and Treat Rare Liver Diseases

At the Undiagnosed and Rare Liver Disease Center, we focus on translational and clinical research to improve outcomes and seek a cure for progressive familial intrahepatic cholestasis (PFIC) and related diseases. 

Our current research centers on three areas of focus.

Genetic Mutations and Patient Outcomes

Our goal is to determine the link between different genetic mutations causing PFIC (genotypes) and patient outcomes. To do this, we are investigating the mechanisms by which the known genetic mutations cause cholestasis. By following up with our patients year-over-year, we are able to assess their prognosis with and without liver transplantation.

In addition to this, we study the risk of developing liver cancer and extrahepatic manifestations in patients with different genetic mutations.

Associated Research Labs

Factors That Impact Outcomes

The goal of this research is to identify nutritional and metabolic factors that impact the outcomes of infants with PFIC.  

Genetic Causes of Undiagnosed Liver Diseases

We are investigating the genetic causes of formerly undiagnosed PFIC-like liver diseases by developing a comprehensive liver disease gene panel and offering it to patients who are seeking genetic testing.

In the lab, we use iPSC-derived hepatocytes, liver organoids, zebrafish and mouse models to identify new variants and genes and validate their causality.

Associated Research Labs