Current international research projects

Siena is once again a leader in scientific research and biomedical innovation.

The ApreciseKUre project, developed at the University of Siena by the research group led by Professor Annalisa Santucci, won the 5th Uniamo Rare Disease Award, a prestigious honor presented on October 22 at the Leopolda Health Forum in Florence.

The award recognizes an initiative conceived entirely in Tuscany that combines scientific excellence, digital innovation, and social commitment. ApreciseKUre is a digital ecosystem for precision medicine dedicated to alkaptonuria (AKU), an ultra-rare genetic disease affecting approximately 1,300 people worldwide. The platform, designed and coordinated by the Siena-based group, integrates genetic, biochemical, and clinical data from researchers, physicians, and patients, and uses advanced artificial intelligence (AI) techniques to analyze complex patterns, identify subgroups, and personalize treatments.

The database currently contains data from over 210 AKU patients from various countries and is continually enriched with new information, including medical images and case reports published in the literature. This multidimensional approach enables a more comprehensive understanding of the disease and paves the way for increasingly targeted therapeutic strategies.

A distinctive feature of the project is its close collaboration with the patient community, through the aimAKU – Italian AKU Patients Association, of which Professor Annalisa Santucci is also vice president. Together, researchers and patients co-design tools, research priorities, and data collection methods, building a participatory research model that centers on the individual and knowledge sharing.

Thanks to its modular and scalable structure, the ApreciseKUre platform is designed to be replicated for other rare diseases, overcoming the limitations imposed by data scarcity and information fragmentation.

“This recognition,” said Professor Annalisa Santucci, “is a recognition of collaboration. It demonstrates that when science, institutions, and patients work together, we can truly build a more equitable, inclusive, and personalized medicine for each individual.”

The Uniamo Award thus confirms the University of Siena’s role as an international center of excellence in rare disease research and reaffirms the importance of the link between scientific innovation and civic engagement.