- A robust European Clinical Research Network (CRN) was built and supported extensive data/sample sharing.
- A pan-European virtual biobank and Data Portal were established and sustained, hosting harmonized clinical and omics data across cohorts. A robust and secure data management plan along with detailed guidelines and a governance framework has been set in place for upload and storage of data as well as access along with legal documentation to enable data sharing between partners in full compliance with applicable regulatory guidelines including the General Data Protection Regulation (GDPR). This model has served as blueprint for other IHI projects. The Data Portal and aligned virtual biobank are also subject to a sustainability effort based on the rules and regulations of the Consortium Agreement and these additional GDPR aspects. The Data Portal (and the aligned virtual biobank) are also subject to sustainability requirements set out in the Consortium Agreement, together with additional GDPR considerations. These measures are intended to maximise public access to the biosamples and data curated and generated during the lifetime of the BIOMAP in the line with the BIOMAP Consortium Agreement.
- A “Glossary” for harmonization of clinical data from diverse cohorts was established and published open access (doi: 10.5281/zenodo.4746584) and the vast majority of BIOMAP datasets has been harmonized based on the glossary. Likewise, a framework standardization for the definition of AD and PSO severity outcomes was set up (doi: 10.1093/bjd/ljae080). For processing of molecular data respective consented pipelines were established.
- Genetic studies identified novel loci and genetic mechanisms contributing to disease severity, progression, and comorbidities, and pinpointing potential therapeutic targets (doi: 10.1038/s41467-025-56719-8; doi: 10.1001/jamacardio.2024.2859).
- Omics analyses revealed candidate disease subtypes/endotypes, associated molecular signatures, and biomarkers (doi: 10.1038/s41467-023-41180-2; doi: 10.1101/2023.10.04.23296543; doi: 10.1038/s41588-023-01545-1; doi: 10.1186/s12967-024-04879-4).
- Analyses on population-based cohorts, disease registries and clinical studies identified key host and environment factors modulating the skin microbiome and characterized the disease dysbiosis as well as the differential impact of established treatments (dois: 10.1111/all.15742; 10.1038/s41467-022-33906-5; 10.1016/j.jdermsci.2022.04.007; 10.1111/bjd.20072; doi: 10.1093/bjd/ljae471).
- Clinical disease trajectories were identified, and initial findings on AD subtypes based on trajectory, severity and clusters of multimorbidity were published (dois: 10.1038/s41598-022-26357-x; 10.1111/bjd.19885).
- First AD and Pso candidate endotypes along with associated molecular signatures were identified and published (dois: 10.1016/j.jaci.2022.02.001; 10.1016/j.jaci.2020.06.012; 10.1016/j.jid.2023.02.010). The results were extensively verified by federated analysis of Industry partners and are currently being in the process of written up for publications.
- Spatial and flow cytometry analyses provided insights into immune cell networks and their roles in disease endotypes (doi: 10.1038/s41467-024-44994-w; doi: 10.1016/j.jaci.2022.04.027).
- CRISPR/Cas9-based tools for generating in vitro model systems for multiomics analyes have been established and published (doi: 10.1016/j.jid.2023.02.021) and are accessible for BIOMAP partners.
- Multiple publications and tools were released such as a glossary for clinical data harmonisation (doi: 10.5281/zenodo.4746584) an R package designed for unsupervised clustering analysis in patient stratification tasks using either single- or multi-omics data (
https://github.com/UEFBiomedicalInformaticsLab/COPS(si apre in una nuova finestra)) and an interactive disease map (doi: DOI: 10.1093/bjd/ljaf491) providing valuable publicly accessible resources for the research community.
