Campi Flegrei: Tigem resumes work in the laboratories following post-earthquake inspections

“The resumption of Tigem’s scientific activities is important not only for our Institute, but for the entire community working on rare genetic diseases. A gradual return to the laboratories means continuing the programmes and collaborations built up over the years and preserving a place where research, innovation and training feed into one another. Over recent weeks, we have witnessed an extraordinary capacity for collaboration and a strong sense of responsibility from the entire Tigem community: it is thanks to this collective strength that we can now look forward with confidence to the full resumption of activities,” says Alberto Auricchio, scientific director of Tigem.

“The story of Tigem demonstrates how the generosity of donors and the quality of Italian research can give rise to a centre of excellence recognised worldwide. The resumption of activities is a sign of confidence and continuity for research into rare genetic diseases and for those awaiting new answers from science. I would like to extend my sincere thanks to Federico II University, CEINGE and Vanvitelli University for the willingness and spirit of collaboration they have shown over the past few weeks.”

The Telethon ETS Foundation is one of Italy’s leading biomedical charities, founded in 1990 on the initiative of a group of patients suffering from muscular dystrophy. Its mission is to find cures for rare genetic diseases through scientific research of the highest standard, selected in accordance with internationally recognised best practice. Through an approach that is unique in Italia, it oversees the entire ‘research chain’, handling fundraising, the selection and funding of projects, and the research itself, carried out in its own centres and laboratories. The Telethon Foundation also develops partnerships with public healthcare institutions and pharmaceutical companies to translate research findings into treatments accessible to patients. Since its inception, it has invested 790 million euros in research, funded 3,186 projects involving 1,958 researchers and studied 676 diseases.

To date, thanks to the Telethon Foundation, which is responsible for its production and distribution, the first stem-cell-based gene therapy for the treatment of ADA-SCID – a severe immunodeficiency that compromises the body’s defences from birth – is available in the European Union. Another gene therapy now available, resulting from the Telethon Foundation’s research and collaboration with the pharmaceutical industry, is for metachromatic leukodystrophy, a severe genetic neurodegenerative disease. Gene therapy for another immunodeficiency, Wiskott-Aldrich syndrome – also the result of the Foundation’s research – has recently been granted marketing authorisation in the United States and the European Union by the respective regulatory authorities.

Other conditions for which gene therapy, developed by the Foundation’s researchers, is currently being evaluated in patients include beta-thalassaemia, mucopolysaccharidosis type 6 and type 1, and Usher syndrome type 1B. Furthermore, within the Telethon Foundation’s institutes, targeted therapeutic strategies for other genetic disorders are being studied or developed. At the same time, research into the underlying mechanisms and potential therapeutic approaches for diseases for which no treatment is yet available continues in all the laboratories funded by the Foundation.