- Despite advances in omics technologies, 30-80% of individuals with rare diseases still lack a molecular genetic diagnosis due to difficulties integrating diverse data types and specialised expertise dispersed across multiple centres.   - To address these challenges, the EU-funded Solve-RD...

The Royal Academy of Sciences of Spain (RAC) has awarded the Ramón y Cajal Medal 2025 to Tomàs Marquès Bonet (Barcelona, 1975) in recognition of his outstanding scientific career.   According to the nomination text, "Marquès-Bonet’s dedication to primate research has contributed to the...

- A positive response to therapy in a paediatric patient with a renal rhabdoid tumour has enabled researchers to identify immune cells with anti tumour activity in this rare cancer, which affects roughly of 12 children per year in Spain and has an extremely low survival rate. - After receiving...

- A new open-source toolkit turns complex phenotypic data into actionable insights, accelerating the discovery of rare disease diagnoses and aids cohort building for cross-disease analytics. - Pheno-Ranker helps researchers classify patients and find similar cases with just a few clicks, by...

- The project is part of an international collaboration supported by The Mark Foundation’s ASPIRE grant, co-funded by the...

- Researchers from the Centro Nacional de Análisis Genómico (CNAG, Spain), together with the St. Jude Children’s Research Hospital (USA) and the University of Adelaide (Australia), have developed a revolutionary...