The Telethon Institute of Genetics and Medicine (TIGEM) is a multidisciplinary research Institute devoted to studying the mechanisms underlying rare genetic diseases and to developing innovative therapies. With the support of Fondazione Telethon, the European Community and many other funding agencies, TIGEM's research groups are engaged in numerous clinical trials and collaborative projects. In addition, TIGEM's alliances with various universities offer the Institute additional resources and provide opportunities for excellent students. TIGEM is a Telethon Foundation research centre in Pozzuoli, Italy. TIGEM comprises several research groups and over 200 staff members, all dedicated to understanding the molecular mechanisms behind rare genetic diseases and developing novel treatments. These diseases, often overlooked by pharmaceutical industries, are most common in children and adolescents. TIGEM’s research falls into three main themes: Cell Biology and Disease Mechanisms, Genomic Medicine, and Molecular Therapy. Our research is supported by a number of in-house highly specialised facilities, as well as significant international support in the form of funding and collaborative opportunities.