Non-Communicable Diseases

Molecular Genetics

In Trieste, the RNA Biology Group (M. Baralle) has a long-standing interest in the elucidation of the molecular mechanisms that control processing of human genes and their relevance for human disease. The Mouse Molecular Genetics Group (Muro) develops animal models mimicking human hereditary mutations: a specific interest is the Crigler-Najjar Syndrome, a condition characterised by elevated blood levels of bilirubin and a lifelong risk of encephalopathy. The Human Molecular Genetics Group (Pagani) explores the molecular basis of splicing defects associated with haemophilias, cystic fibrosis and spinal muscular atrophy. For these conditions, gene therapy using AAV vectors offers new therapeutic opportunities. 

Highlights 

An interesting collaborative study between the Mouse Molecular Genetics and Molecular Medicine groups in Trieste demonstrated how long-lasting gene therapy can be achieved. This was done by repeated gene transfer using serotype switching of the gene delivering Adeno Associated Virus and thereby attaining long-lasting therapeutic levels of expression of the gene product (Bockor et al., 2017, Gene Ther. 24, 649). This has very important consequences for treatment of the specific disease in question, Crigler-Najjar Syndrome Type 1, but also for gene therapy approaches in general.