CENTER FOR IN VIVO FUNCTIONAL GENOMICS

The human genome project closed at the end of the year 2000 has provided with the complete list of all genes present in our genome and that contribute to the organization of a complex organism such as the human being. This immense knowledge will have only a limited impact on human health unless we can acquire deep knowledge on the functional role of each specific gene. At the moment, in fact, only approximately 10% of total genes have a known function, while the remaining 90% is identified on the basis of the DNA sequence, but their function is totally unknown. As matter of fact, the post genomic era started in this millennium has the challenge to decipher the function of all human genes and establish their role in physiopathology. The most informative experimental approach is to generate mutant animal models carrying alterations in specific genes. Mice represent at the moment the animal model of choice being a system technologically versatile. The introduction of specific alterations in single genes is a very complex technology requiring specific know-how in molecular genetics, cell biology, physiopathology and microsurgery in addition to a sophisticated instrumentation. In our laboratory since 1992 we have developed all the necessary competence and more than two hundred mice strains carrying mutations in specific genes have been generated, many of which have been the result of collaborations with research laboratory from other Universities or private pharmaceutical companies. With the present application we propose to share the acquired know-how with the Telethon scientific community whose mission is to unravel the molecular mechanisms of diseases caused by genetic alterations. The facility will allow to the scientists to generate a mouse strain with a targeted alteration in a specific gene providing thus an invaluable tool to establish the role of that gene in genetic disorders.