Fondazione Toscana Life Sciences has explicitly identified among its institutional objectives a strategic role in the field of rare diseases, with particular emphasis on acting as a translational bridge between basic research and industrial applications in the biomedical and pharmaceutical sectors. Its activities, conducted in collaboration with regional, national, and international institutions and organizations, include:

• the collection, integration, and dissemination of scientific knowledge and information;
• the development and implementation of targeted research and intervention projects.

Over the years, TLS has actively contributed to this field through several initiatives, including:

• Orphan-1 and Orphan-2 Projects: coordination and management of development activities in the field of protein-based therapeutics, specifically enzyme replacement therapies;
• Rett Syndrome: a collaborative project with North Carolina State University (Prof. Giuseppe Valacchi) aimed at the application of advanced proteomic and bioinformatic approaches to elucidate the molecular mechanisms underlying Rett syndrome;
• Alkaptonuria: a research initiative carried out in partnership with the Department of Biotechnology, Chemistry and Pharmacy of the University of Siena (Prof. Annalisa Santucci), funded by HEAL ITALIA* program with the objective of advancing the understanding of alkaptonuria (AKU) toward a precision medicine framework that accounts for disease heterogeneity and inter-individual variability;
• Methylmalonic Acidemia with Homocystinuria: a research project funded by the Italian Association for Methylmalonic Acidemia with Homocystinuria CBLC – APS, conducted by TLS in collaboration with the Biophysics Division of the CNR in Palermo and the University of Ferrara. The study focuses on the evaluation of the efficacy of a suitably functionalized recombinant protein in patient-derived fibroblasts, with the aim of restoring cellular metabolic function;
• Kedrion Ceruloplasmin Project: a research activity developed by TLS in collaboration with Kedrion Biopharma and the IRCCS San Raffaele Hospital (Milan), aimed at the proteomic characterization of discarded plasma fractions. These fractions represent a valuable resource for potential therapeutic applications and valorization in the context of rare and orphan diseases.

*“Extended ALliance for Innovative Therapies, Advanced Lab research, and Integrated Approaches of Precision Medicine” PNRR, Missione 4 “Istruzione e ricerca” – Componente 2 “Dalla ricerca all’impresa” Investimento 1.3, finanziato dall’Unione europea – NextGenerationEU (’Avviso n. 341 del 15 marzo 2022 del MUR e ss.mm.ii). Codice Progetto: PE0000019.