TELETHON ELECTRON MICROSCOPY CORE FACILITY (TEEMCOF)

It is intended to establishment a Telethon Electron Microscopy Core Facility (TeEMCoF) within the structures of the Department of Cell Biology and Oncology (DCBO) of the Consorzio Mario Negri Sud (CMNS) in Santa Maria Imbaro, Italy. The aim will be to provide standard (short-term assistance) and advanced (long-term assistance) electron microscopy instrumentation and expertise to key Telethon projects and scientists that need access to sophisticated morphological and cell biological approaches in their studies of genetic diseases. The publication of the initial sequencing of the human genome has allowed many laboratories involved in genetic analyses of diseases to move forward at significantly greater speeds. However, to understand this knowledge at the level of the biology and biochemistry of the proteins responsible for such genetic diseases (functional genomics), these scientists have need of instrumentation and expertise that is often beyond the capabilities of their own laboratories, particularly from a financial point of view. Furthermore, a number of Telethon scientists have already expressed an interest in such a Telethon-assisted Electron Microscopy Core Facility.The DCBO already has an international reputation in the analysis of protein behaviour and function in fixed and living cells. This has been possible through the building up of instrumentation and technical knowledge, and through the training of personnel. We propose to extend these complex and expensive studies, and to make them available (free of charge) to Telethon research groups. This will allow these groups to extend their own studies to the analysis of gene product function and behaviour at the cellular level.Therefore, with the help of Telethon and in collaboration with Telethon-supported scientists, we intend to further our understanding of functional genomics from the cellular to the whole-body level in order to design new tools in the detection and treatment of genetic diseases.