Genetic Liver Diseases

Research

Research on Genetic Liver Diseases

Mayo Clinic has made a number of important contributions to the treatment of genetic liver diseases such as Alpha-1 Antitrypsin Deficiency (AAT), primary oxalosis, Wilson's disease and hereditary hemochromatosis (HHC). Here are a few of those contributions:

• Mayo Clinic doctors published the first clinical description of Alpha-1 Antitrypsin deficiency in 1969.
• Mayo Clinic participated in the original Registry for Alpha-1 Antitrypsin deficiency (1988-1996), funded by the National Institutes of Health.
• Mayo Clinic is nationally recognized as a Clinical Resource Center by the Alpha One Foundation — a nonprofit organization that supports clinical research and health resource information for patients with Alpha-1 Antitrypsin deficiency and their families.
• Mayo Clinic researchers are studying new treatments for primary oxalosis at its Hyperoxaluria Center. The center compiles statistics on patient outcomes and houses an international data registry.
• Mayo participates in research on hereditary hemochromatosis (HHC) such as the effectiveness of liver transplantation for the disease looking at the incidence of the disease through clinical epidemiology studies. Mayo has a patient registry that gathers blood and tissue samples from patients for genetic research.
• Mayo researchers are studying exciting new methods of treatment such as gene therapy, which allows physicians to treat a disorder by inserting a missing gene into a patient's cells instead of using drugs or surgery.
• Mayo researchers are testing hepatocyte transplantation, which involves the transfer of normal liver cells into a diseased liver.
• Mayo researchers are continuing to improve pediatric screening for genetic liver disease, for example Wilson's disease screening.

Mayo Publications

See a list of publications by Mayo Clinic doctors on genetic liver diseases on PubMed, a service of the National Library of Medicine.