Disease Pathways & Biomarkers

Drugs Targets and Biomarkers
DPB Research Labs

The Disease Pathways & Biomarkers (DPB) comprises 5 Research Labs in the Lisbon and Porto poles, including 21 integrated members (15 permanent faculty; 3 MD PhD; 5 non-permanent research staff) who directly supervise 12 PhD students.

 

The DPB operates primarily in the UCIBIO Health program, where we aim to discover early biomarkers for chronic diseases, in close collaboration with Hospitals in Porto, Coimbra and Lisbon. Key examples are biomarkers for kidney disease (endothelial dysfunction, tubular, fibrotic & inflammatory injuries), cancer (breast, pancreas, colorectal), and neurological disorders (stroke and neurodegeneration). Using cutting-edge technologies such as multi-omics approaches, bioinformatics, genome editing (e.g. CRISPR/Cas9), and advanced imaging techniques, we also aim to decipher complex disease pathways and identify molecular targets for intervention.

 

The DPB activities encompass fundamental research, translational studies, and clinical applications, contributing for personalized medicine approaches, namely stroke clinical trials for new diagnostic and prognostic biomarkers Also, we will continue to develop open-source bioinformatic pipelines (github.com/comicsfct), data analysis software (sites.google.com/view/mitoneuro/software), novel disease models, and gene editing strategies, sharing them with the scientific community.

 

Further, DPB researchers will continue to train Master and PhD students, and contribute to the scientific and broader society via organization of scientific meetings (e.g. internationals such as mitoporto.com), workshops/courses (e.g. Computational Biosciences using HPC systems in collaboration with the national infrastructure INCD), and outreach events (e.g. disease awareness weeks).

 

DPB contributions will be fostered by successful and long-term international collaborations (e.g. Ana Pombo MDC Berlin; Elisa Espinet, Meritxell Rovira IRB Barcelona; Mike Murphy MRC Cambridge; Michael Duchen UCL London).


Recent publications
Raposo, AC; Caldas, P; Jeremias, J; Arez, M; Mateus, FC; Barbosa, P; Sousa-Luís, R; Agua, F; Oxley, D; Mupo, A; Eckersley-Maslin, M; Casanova, M; Grosso, AR; da Rocha, ST. 2025. Gene reactivation upon erosion of X chromosome inactivation in female hiPSCs is predictable yet variable and persists through differentiation. Stem Cell Reports, 20, DOI: 10.1016/j.stemcr.2025.102472
Kraft, M; Schoofs, H; Petkova, M; Andrade, J; Grosso, AR; Benedito, R; De Roo, AK; Boon, LM; Vikkula, M; Kapp, FG; Hägerling, R; Potente, M; Mäkinen, T. 2025. Angiopoietin-TIE2 feedforward circuit promotes PIK3CA-driven venous malformations. NATURE CARDIOVASCULAR RESEARCH, DOI: 10.1038/s44161-025-00655-9
Mafalda Soares; Inês Saraiva Wemans; Paulo Caldas; Simão Teixeira da Rocha; Ana Rita Grosso. 2025. X-linked transcriptome dysregulation across immune cells in systemic lupus erythematosus. Biology of Sex Differences, DOI: 10.1186/s13293-025-00750-3
Mollet, IG; Viana-Soares, R; Cardoso-Pires, C; Soares, NL; Marto, JP; Mendonca, M; Queiroga, CSF; Carvalho, AS; Sequeira, CO; Teixeira-Santos, L; Fernandes, TP; Aloria, K; Pereira, SA; Matthiesen, R; Viana-Baptista, M; Vieira, HLA. 2024. Identification of human circulating factors following remote ischemic conditioning (RIC): Potential impact on stroke. FREE RADICAL BIOLOGY AND MEDICINE, 224, DOI: 10.1016/j.freeradbiomed.2024.08.017
Dantas, T; Abreu, CMC; De-Castro, MJG; Grosso, AR; Valente, JD; Xavier, GD. 2024. 25 de Abril Sempre! Portuguese Science and the 50th anniversary of the Carnation Revolution. Communications Biology, 7, DOI: 10.1038/s42003-024-06229-y