AI for Rare Disease Diagnosis Infrastructure

This case study outlines the MIRA project, which aims to enhance the diagnosis, treatment, and management of rare diseases through the application of artificial intelligence (AI). The project, involving collaboration among the Friuli Centrale Health Authority, the University of Udine, AREA Science Park, and SISSA, focuses on identifying patients at risk of rare diseases by utilizing clinical data and imaging analysis with AI algorithms. A significant aspect of the project is the establishment of a high-performance technological infrastructure powered by renewable energy, designed to support advanced biomedical research. The infrastructure, based on NVIDIA DGX BasePOD, enables the management of large volumes of clinical data and diagnostic images, promotes interdisciplinary collaboration, and ensures energy sustainability. The case study details the technological components of the infrastructure, including NVIDIA DGX H100 systems and networking solutions, and emphasizes the project's goal of creating a robust platform for future scientific initiatives, ultimately positioning Friuli Venezia Giulia as a hub for scientific innovation.