World Rare Disease Day: Area Science Park strengthens its commitment to research
On 28 February, World Rare Disease Day is celebrated worldwide, drawing attention to a major health and social challenge: today, around 300 million people globally live with a rare disease, and treatments exist for only 5% of these conditions. According to data reported by the European Commission, between 27 and 36 million patients are affected across Europe, including more than 2 million in Italy, and in 70% of cases the disease manifests during childhood. These figures highlight the need for the scientific community to strengthen its commitment to research in order to accelerate and improve the diagnostic phase, open new therapeutic perspectives and support patients along what is often a complex care pathway.
This is a particularly sensitive and important research area that requires coordinated efforts and the use of tools capable of connecting highly diverse expertise and, above all, transforming heterogeneous and complex data into knowledge useful for the diagnosis and treatment of rare diseases.
Area Science Park remains actively engaged in this field. Through regional and national research projects and initiatives, the organisation has long contributed to advancing scientific knowledge in the area of rare diseases.
Within the activities linked to the MIRA project, funded by the Friuli Venezia Giulia Region, the Data Engineering Laboratory – LADE is currently developing a virtual assistant based on artificial intelligence technologies to improve the timeliness of diagnosis. Artificial intelligence has the potential to speed up the identification of symptoms associated with rare diseases, suggest to physicians and researchers when further diagnostic tests may be necessary, and ultimately support specialists in formulating a diagnosis. The virtual assistant – currently being tested together with the Friuli Centrale University Health Authority (ASUFC), the project’s lead partner – is being developed by the LADE laboratory in collaboration with Aindo, an innovative company based in the Area Science Park science and technology campus and specialised in the use of synthetic data that ensure both privacy protection and data reliability.
More recently, the Ministry of University and Research (MUR) announced a €21 million funding allocation in support of the INGenIO project (Next-Generation Digital Infrastructure for the Study of Rare Diseases: Target Identification Driven by Multi-Omics and AI for Precision Drug Discovery and Delivery), coordinated by Area Science Park. The project aims to develop an integrated, interoperable and distributed infrastructure for the diagnosis of rare diseases, the understanding of their molecular mechanisms and the identification of personalised therapies. By bringing together specialised expertise and advanced instrumentation across the national territory, the project will cover the entire research pipeline, from disease investigation and computational modelling to the synthesis of new candidate drugs.
Area Science Park’s commitment in this field builds on the organisation’s consolidated experience in designing and implementing research infrastructures, particularly in the life sciences domain. Examples include PRP@CERIC (Pathogen Readiness Platform for CERIC-ERIC Upgrade), an infrastructure dedicated to the study of pathogens, and ORFEO, the data centre that represents the digital core of Area Science Park’s research activities, supporting advanced projects every day in artificial intelligence, materials science, computational biology and genomics.