Systemic Auto-Inflammatory Diseases (SAIDs) are a growing number of rare conditions with monogenic or multifactorial genetic etiology, causing deregulation of the mechanisms that control innate immune responses. For specific monogenic SAID, personalised medicine (PM) is already an established reality. However, there is evidence that personalised approaches could be beneficial also for other SAIDs, 70-80%, known as “undefined” (uSAIDs) due to the fact that molecular testing cannot provide diagnostic confirmations.
The present proposal will link some of the largest registries and bio-sample repositories on SAIDs in Europe to i) analyse available data and produce new omics, ii) generate standardised protocols and common bioinformatics pipelines for data management and analysis, iii) simplify reuse of data in compliance with FAIR principles and GDPR. We will also develop appropriate tools to decode the disease complexity, thus improving SAIDs classification, diagnosis and prognosis, and supporting the discovery of novel therapies.
EP PerMed Confernece 2025
At the EP PerMed conference on personalised medicine research in February 2025, we spoke to PerSAIDs coordinator Isabella Ceccherini. At our conference, Isabella highlighted the need for additional datasets to validate their results for translation into clinical practice. Transnational collaboration through the ERA PerMed funding scheme has enabled the consortium to expand it’s scope and increase the number of patients and data sets collected.
