Undiagnosed and Rare Liver Disease
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Healthcare Professionals: Expert Interpretation of Liver-Related Genetic Tests

We support clinicians caring for patients with presumed or suspected genetic-based liver diseases in children or adults. Our team offers expert interpretation of genetic testing results. We will collaboratively review your questions and contact you to discuss. Call 513-636-5706 or email curl@cchmc.org.

We are specifically interested in investigating liver disease with unknown etiology presenting in any of the following phenotypes:

  • cholestasis
  • acute liver failure
  • extrahepatic manifestations suggesting genetic disorders
  • clinically significant portal hypertension
  • familial inheritance pattern
  • pregnancy-related cholestasis
  • complicated gallstone disease (intrahepatic) or childhood onset gallstones
  • steatohepatitis with normal BMI and/or pruritus

Please note: This is a peer-to-peer educational session. It does not replace clinical care or provide direct patient diagnoses.

Patients and Families

For General Information

For more information about the Undiagnosed and Rare Liver Disease Center, call 513-636-5706 or email curl@cchmc.org.

To Volunteer for a Research Study

There are numerous studies that are investigating rare liver diseases. Learn more about our current research studies and enroll in our patient database.

To Help Fund Research

Cutting-edge research requires funding to explore new ideas that could potentially be groundbreaking. Your gift contributes to those explorations, that can then be leveraged into grant applications for numerous funding agencies. Learn more and help fund our research.