ICGEB - Mouse Molecular Genetics
We have been involved in the generation of mutant mouse strains since the early ’90s, in the study of phenotypes, function of genes and proteins related to human diseases and possible therapies.
We generated mouse models of the fibronectin and b-adducin genes and studied their role in pathological conditions.
We are now focusing our attention to genetic diseases targeting the liver, such as the Crigler-Najjar Syndrome (CNSI), using a mouse model recently developed in our lab. CNSI results in severe jaundice since birth, with lifelong risk of bilirubin encephalopathy and death if untreated. Liver transplantation (OLT) is currently the only definitive treatment available. In the framework of a European collaborative project aiming to treat CNSI patients we are performing the pre-clinical experiments required to reach the clinics. We are expanding our research to other important liver diseases (OTC and MSUD), with the goal of providing alternative therapies to patients other than OLT.