Biobanks are key players in scientific research, particularly when samples are accompanied by high-quality structured data collected from registries and health records. The power of data, combined with biobanked samples, stimulates and supports the implementation of innovative research methods to obtain scientific evidence with the ultimate goal of improving therapeutic strategies, particularly in the field of rare diseases.
The current project has three aims:
The first aim is to implement interoperability and to enable secondary use of data, creating a health data ecosystem that follows FAIR principles (Findable, Accessible, Interoperable and Reusable), which can accompany the specimen collection phase. To this end, a model will be developed to guide the collection and integration of information stored within biobanks, disease registries, imaging databases, and electronic health records.
The second aim is to promote the collection of samples compliant with high standards, which, supported by high-quality data, can improve clinical practice for patients with rare diseases and identify potential therapeutic strategies. The first step will be to define a roadmap that addresses system requirements in the five areas outlined by ISO20387. Additionally, the samples already collected during routine care, as well as new samples, will be processed to allow for secondary use and regulatory purposes.
The third aim seeks to foster participant involvement in clinical studies, particularly in the rare disease scenario, encouraging dialogue among all stakeholders: researchers, clinicians, and patients/parents/legal representatives. An innovative digital tool will be implemented to support patients in the informed consent and assent process and to maintain an up-to-date "dynamic informed consent" for the use of samples and data for research purposes.
Four healthcare companies participate in the project:
- IRCCS Rizzoli Orthopaedic Institute
- Azienda Ospedaliera Ospedali Riuniti Villa Sofia Cervello
- Fondazione per la Ricerca Farmacologica Gianni Benzi Onlus
- Agenzia nazionale per i servizi sanitari regionali (Agenas)
The principal investigator of the project is Luca Sangiorgi MD, director of the Rare Skeletal Disorders Department. Alberto Bazzocchi MD, radiologist at the Diagnostic and Interventional Radiology Unit, is participating in the study as a co-investigator.
The project, supported by the European Union, has received a funding of €981,524.00 through the Proof-of-Concept PNRR call, which, as part of the National Plan for Recovery and Resilience (PNRR), has funded programs for the enhancement of patents or patent applications held by research entities.
Principal investigator
Contact persons for research groups
