DocTIS data supports a groundbreaking study on cellular inflammation published in Nature Medicine
A major study, entitled “Interpretable inflammation landscape of circulating immune cells”, highlights the value of data generated within the DocTIS Project for advancing the understanding of inflammatory diseases and powering the development of future diagnostic approaches. Its publication in Nature Medicine reflects the scientific relevance of DocTIS data and its contribution to high-impact international research.
The research is based on the analysis of more than 65 million blood cells from over 1,000 healthy individuals and patients across 19 different diseases. By combining large-scale single-cell genomics with advanced computational methods, the study provides new insights into how inflammation manifests across a wide range of pathological conditions, including immune-mediated inflammatory diseases, infections and certain cancers.
Collaboration across research centres
The research was led by the Centro Nacional de Análisis Genómico (CNAG), under the scientific leadership of Dr Holger Heyn, with Dr Juan Nieto as co-corresponding author. The study was primarily developed by a core group of authors, including Dr Laura Jiménez-Gracia, Dr Davide Maspero and Dr Sergio Aguilar-Fernández from CNAG, and Francesco Craighero from the École Polytechnique Fédérale de Lausanne, alongside contributions from a broader group of collaborating researchers.
Beyond this core scientific team, the study involved several partners from the DocTIS Project, and the IMID Consortium, a network of clinicians that facilitated patient recruitment. DocTIS partner institutions contributed clinical data, patient samples, molecular data generation and expertise in immune-mediated inflammatory diseases. These include the Vall d’Hebron Research Institute (VHIR), represented by Dr Sara Marsal, Cardiff University, represented by Dr Ernest Choy, the University of Verona, represented by Dr Giampiero Girolomoni, Charité – Universitätsmedizin Berlin, represented by Dr Britta Siegmund, and CNAG represented by Dr Holger Heyn.
A cellular perspective on inflammation
Inflammation plays a central role in health and disease. While it is essential for host defence and tissue repair, dysregulated inflammatory responses are a hallmark of many chronic conditions.
To address this complexity, the study analyses immune cells circulating in the blood at single-cell resolution. By comparing immune cell states and gene activity patterns across multiple diseases, the researchers identified molecular signatures associated with distinct inflammatory processes and disease progression.
According to CNAG, the study represents the first cellular atlas specifically focused on inflammation, bringing together single-cell data from millions of blood cells across multiple disease contexts. The findings show how circulating immune cells can reflect underlying pathological processes.
The role of DocTIS data
Clinical and molecular data from the DocTIS Project played an important role in enabling this research by providing access to a large number of well-characterised IMID patients and high-quality biological samples from the IMID-Biobank. This contribution supported the large-scale, cross-disease analysis required to explore inflammatory processes at single-cell resolution and illustrates how data generated within DocTIS can be reused to support high-impact research beyond the immediate scope of the project.
Artificial intelligence and diagnostic perspectives
In addition to its biological insights, the study applies artificial intelligence to learn from cellular immune states associated with disease.
By training generative AI models on the cellular atlas, the researchers explored how biological patterns identified in current datasets could be applied to future patients, with further studies required to support clinical translation.
Research context
The publication underlines the importance of collaboration between genomic research centres, clinical partners and European initiatives such as DocTIS.
By combining single-cell technologies, artificial intelligence, well-characterised clinical patients and high quality of biological samples the study contributes to a better understanding of the cellular mechanisms underlying inflammatory diseases and supports ongoing research efforts to improve patient care.
The full scientific article, published in Nature Medicine, is available at: https://www.nature.com/articles/s41591-025-04126-3.
