The European Joint Program on Rare Diseases has granted three international projects of great relevance to different groups of the Sant Pau Research Institute. These projects, selected through the joint transnational call EJP RD 2023, address several challenges in minority and autoimmune diseases, emphasizing the improvement of diagnosis and treatment.
The first project, called ADTKD-Net, focuses on autosomal dominant tubulointerstitial nephropathy. This disease, characterized by tubular damage and interstitial fibrosis, represents a diagnostic and therapeutic challenge. Researchers from the Nephrology group, led by Dr. Roser Torra, coordinator of minority renal and genitourinary diseases at the Puigvert Foundation, will work on the creation of a European registry of cases to better understand the progression of the disease and identify prognostic biomarkers, opening the door to future personalized therapies.
The second project, OptiMyG, focuses on myasthenia gravis, an autoimmune disease that affects signal transmission between nerves and muscles. Through population studies, national registers and international collaborations, this project – in which Dr. Eduard Gallardo, researcher in the Neuromuscular Diseases group – seeks to identify long-term clinical predictors, evaluate the effectiveness of different treatments and develop immunological biomarkers to improve the stratification of the disease and the prediction of its severity.
The third project, CADANHIS, focuses on CADASIL, a hereditary disease that causes stroke and vascular dementia. This international project brings together experts from several countries, among the researchers are Dr. Israel Fernández and Dr. Elena Muiño, from the Pharmacogenomics and stroke genetics group. The aim of the project is to deepen the understanding of this rare disease and develop new diagnosis and treatment strategies. With a multidisciplinary and collaborative approach. In addition, CADANHIS aims to improve the quality of life of affected patients and offer new hope to their relatives.
With these initiatives, the Sant Pau Research Institute continues to bet on excellence in research into minority diseases, emphasizing international collaboration and the application of scientific results to improve the health of patients.
