Periodic Reporting for period 6 - BIOMAP (Biomarkers in Atopic Dermatitis and Psoriasis)
Okres sprawozdawczy: 2024-04-01 do 2025-03-31
Atopic dermatitis (AD) and psoriasis (Pso) remain two of the most prevalent and impactful inflammatory skin diseases. BIOMAP was established to address the significant heterogeneity, unpredictable disease trajectories, and lack of predictive biomarkers characterizing these conditions. The project brought together a broad European network of researchers, clinicians, industry, and patient representatives to generate a refined understanding of the underlying biology of AD and Pso.
The core objectives of BIOMAP included defining endotypes, identifying molecular biomarkers, integrating clinical and multi-omics data, and laying the groundwork for a precision medicine approach to inflammatory skin disease. Throughout the project, extensive harmonization of clinical data, generation and integration of omics profiles, and application of advanced analytic frameworks have enabled the identification of new disease mechanisms and potential therapeutic targets.
The core objectives of BIOMAP included defining endotypes, identifying molecular biomarkers, integrating clinical and multi-omics data, and laying the groundwork for a precision medicine approach to inflammatory skin disease. Throughout the project, extensive harmonization of clinical data, generation and integration of omics profiles, and application of advanced analytic frameworks have enabled the identification of new disease mechanisms and potential therapeutic targets.
- 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(odnośnik otworzy się w nowym oknie)) and an interactive disease map (doi: DOI: 10.1093/bjd/ljaf491) providing valuable publicly accessible resources for the research community.
- 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(odnośnik otworzy się w nowym oknie)) and an interactive disease map (doi: DOI: 10.1093/bjd/ljaf491) providing valuable publicly accessible resources for the research community.
BIOMAP’s integrative approach has delivered foundational insights into the pathobiology of atopic dermatitis and psoriasis. By identifying stable and dynamic disease endotypes and providing candidate biomarkers, the project is paving the way toward proactive, stratified care models. The infrastructure developed, e.g. data platform and security model, glossary for harmonization, analytic tools, and resources generated, e.g. harmonized datasets, biomarker findings, model systems, are set to inform future research and innovation in precision medicine, with potential socio-economic benefits through improved disease classification, risk prediction, treatment selection and drug development. A number of these results are in the process of being made available as part of a sustainability effort to foster further collaborations and progress.