The Fondazione Italiana Fegato will develop a personalized, non-invasive cellular model to investigate the mechanisms underlying the disease
Generating pluripotent stem cells from a simple urine sample to study a rare genetic disease and its liver complications in the laboratory: this is the aim of a research project by the Fondazione Italiana Fegato ETS in Trieste focusing on Prader-Willi syndrome.
The project, entitled *“Generation of induced pluripotent stem cells from urine samples: a pilot study in patients with Prader-Willi syndrome”*, is made possible thanks to a contribution from the Fondazioni Benefiche Alberto e Kathleen Casali ETS. It is the result of a collaboration between the Fondazione Italiana Fegato, the IRCCS Istituto Auxologico Italiano, the University of Trieste, and the Philippines’ Department of Science and Technology, known as DOST.
Prader-Willi syndrome is a rare genetic disorder characterized by uncontrollable appetite, severe obesity, and metabolic abnormalities, with an increased risk of developing hepatic steatosis. To investigate the mechanisms underlying the disease, researchers will use an innovative, non-invasive approach: cells present in urine samples will be isolated and reprogrammed into induced pluripotent stem cells, known as hiPSCs. These cells can differentiate into different cell types, making it possible to reproduce specific features of the disease in the laboratory. Samples will be collected at the IRCCS Istituto Auxologico Italiano – San Giuseppe Hospital in Piancavallo and subsequently analyzed in the laboratories of the Fondazione Italiana Fegato in Trieste.
“Being able to obtain stem cells from a sample collected without the need for invasive procedures represents an important advantage, particularly in the study of rare diseases,” explains Cristina Bellarosa, Senior Scientist and Group Leader of the Innovative Models Unit at the Fondazione Italiana Fegato. “These cells could serve as a personalized model to investigate the mechanisms underlying the syndrome and explore new potential therapeutic strategies. The protocol developed as part of this project could also be applied in the future to other rare genetic diseases, contributing to the development of new models for personalized medicine.”
The project specifically involves a Filipino PhD student at the University of Trieste, as part of an agreement between DOST, the Fondazione Italiana Fegato, and the University of Trieste. The young researcher will work alongside a master’s degree student from the same university, within a framework of international scientific training and collaboration.
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