Congenital liver disease

The overall goal of our research is to provide solutions to biologically relevant questions and to generate preclinical data that will lead to the development of new clinical therapies for patients with inborn errors of metabolism. Gene transfer and small molecules are hopeful strategies for future therapies, and our research focuses on investigating both of these approaches.
The liver is an attractive organ for gene therapy; hepatocyte genes have long been appreciated because their long-term expression provides a major opportunity for treatment, or perhaps, even a cure for several inborn errors of metabolism. Our efforts are currently focused on developing safe and effective gene therapy for primary hyperoxaluria type 1, Crigler-Najjar syndrome, and alpha1-antitrypsin (AAT) deficiency. To achieve these goals, we are investigating multiple gene therapy platforms, including helper-dependent adenoviral (HDAd) and adeno associated viral (AAV) vectors.

The "Total Award" amount indicated for this project represents the share of the funding of the Telethon Foundation for research by the Tigem institute from July 2016 until last budget year, calculated based on the size of the research group.