About Us

We are a research group at the Department of Biotechnology, Chemistry and Pharmacy (DBCF), University of Siena (UniSI), dedicated to advancing knowledge and care for Alkaptonuria (AKU) through a combined experimental laboratory and computational approach. The group is led by Professor Annalisa Santucci, who also serves as Vice President of aimAKU (the Italian AKU patient association) and Chair of aimAKU’s Scientific Committee. A point of pride for us is our close, long-standing collaboration with aimAKU, the only Italian patient organization devoted to this ultra-rare disease. Clinically, our work is tightly connected to the Azienda Ospedaliera Universitaria Senese (AOUS), which serves as Italy’s national reference center for AKU.

What is AKU?
Alkaptonuria is a very rare inherited metabolic disorder caused by deficiency of the enzyme homogentate 1,2-dioxygenase (HGD). The resulting buildup of homogentisic acid (HGA) leads to connective-tissue deposition (ochronosis), progressive early-onset osteoarthropathy, and potential cardiac and renal complications. Although lifelong, AKU is increasingly manageable thanks to earlier diagnosis, multidisciplinary care, and research-driven therapies, areas to which our team actively contributes.

What we do

Experimental laboratory research: molecular characterization of AKU, biomarker discovery, oxidative-stress and matrix biology, studies on patient-derived specimens, and assay development.
Computational research: multi-omics integration, molecular modelling and simulation, structure–function analyses of HGD, rigorous data curation for our database, and AI-assisted hypothesis generation and drug repurposing.
Translational focus: We bridge bench findings with clinical needs at AOUS, co-designing studies with clinicians and aimAKU to improve diagnostics, monitoring, and quality of life for people with AKU.
Open collaboration & training: We value reproducible science, ethical data stewardship, and training the next generation of researchers and clinicians in rare-disease research.

Our database is designed as a living resource for researchers, clinicians, and the AKU community, aggregating reliable data and tools to accelerate discovery and care. If you are interested in collaborating, contributing data, or learning more about our projects, we would be delighted to connect.