ODINO (Optimization of the Diagnostic Approach for Inborn Errors of Immunity Leading to Hyper-Inflammation) is an international research project dedicated to improving diagnostic methods for inborn errors of immunity (IEI) that lead to hyper-inflammation. These conditions, grouped under the term Systemic Autoinflammatory Diseases (SAID), are often characterized by an excessive inflammatory response that can significantly impact patients' quality of life.
The ODINO project aims to optimize the diagnostic approach to these rare diseases by utilizing advanced bioinformatics tools, innovative functional studies, and an in-depth analysis of unclassified genetic variants. ODINO focuses on three key areas:
- Validation of current tools: ODINO leverages Human Phenotype Ontology (HPO) terms to accurately classify autoinflammatory diseases and validate their real-world application through detailed genetic and clinical analysis.
- Study of phenotypic variability: The team explores the genetic and epigenetic factors that explain phenotypic differences in patients carrying the same mutations, using tools like Polygenic Risk Score (PRS), transcriptomics, and epigenomics.
- Characterization of genetic variants: The project aims to provide a unified strategy for evaluating variants of unknown significance (VUS) in genes associated with SAID, leading to better interpretation of genetic data.
Through collaboration between leading research centers in Italy, the Netherlands, France, and Australia, ODINO is a multidisciplinary initiative bringing together experts in immunology, genetics, bioinformatics, and biostatistics. The findings from this research will be shared on platforms accessible to the scientific community, such as the Infevers and Eurofever databases, facilitating the dissemination of knowledge and enhancing the diagnosis of autoinflammatory diseases.
ODINO represents a significant step forward in improving care for patients with these rare and complex conditions by providing clinicians with more precise tools for diagnosis and personalized therapeutic management.
ODINO is a research project stemming from the 2022 Joint Transnational Call (JTC) of the European Joint Programme on Rare Diseases (EJP RD). It officially started on June 1st, 2023, for a duration of 36 months.
ODINO is designed to interact seamlessly with existing reference platforms such as Infevers and Eurofever, which serve as essential resources for clinicians and researchers working on autoinflammatory diseases.
- Infevers is a comprehensive, publicly accessible database of mutations associated with monogenic autoinflammatory disorders. Users can explore detailed information about gene variants and the scientific literature supporting each entry.
- Eurofever is a large, international registry hosted by PRINTO (Pediatric Rheumatology INternational Trials Organisation) that collects clinical data on patients with autoinflammatory diseases. It provides access to aggregated epidemiological and phenotypic data, helping to improve disease classification and support clinical research.