Temporal Data Mining of The Rare Disease Patient Journey in Brazil

• Grant number: 25/24181-1
• Support Opportunities: Scholarships abroad - Research Internship - Master's degree
• Start date: January 09, 2026
• End date: June 29, 2026
• Field of knowledge: Health Sciences - Collective Health - Public Health
• Principal Investigator: Domingos Alves
• Grantee: Letícia Fontanelli Straube de Souza
• Supervisor: Carlo Combi
• Host Institution: Faculdade de Medicina de Ribeirão Preto (FMRP). Universidade de São Paulo (USP). Ribeirão Preto , SP, Brazil
• Institution abroad: Università degli Studi di Verona, Italy
• Associated to the scholarship: 24/19360-1 - Artificial Intelligence Applied to Rare Diseases: Optimizing the Diagnostic Itinerary in the Care Network, BP.MS

Abstract

This RIA project is linked to the master's project funded by FAPESP (process number: 2024/19360-1) entitled "Artificial Intelligence Applied to Rare Diseases: Optimizing the Diagnostic Pathway in the Care Network", as well as to a broader project, also funded by FAPESP, under the Public Policy Research Program (process number: 2023/10203-8). In this context, the overall objective is to advance and deepen theoretical and practical knowledge in temporal data mining of clinical data with a focus on explainability, applying these techniques to the analysis of patient entry trajectories for rare diseases in the National Inquiry of the Rede RARAS (which includes information on diagnosis, treatment, comorbidities, hospitalization, and follow-up of patients with or without confirmed diagnosis, encompassing approximately 20.000 records). The process will include stages of preprocessing, data handling, normalization, and validation, fully complying with the Brazilian General Data Protection Law (LGPD), in addition to the study, selection, and implementation of temporal mining methodologies on a subset of the Rede RARAS data. The international experience will allow the incorporation of innovative methodologies into the national project, strengthening scientific rigor, transparency and the applicability of the results, while also broadening the researcher's academic training and integration into international research networks. The expected outcomes include the identification of temporal patterns in the journey of patients with rare diseases, the publication of joint articles and the transfer of the acquired knowledge to the research group in Brazil and to Rede RARAS.