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 21.11.2025

A project from IRB Barcelona selected by the “la Caixa” Foundation to study new treatments for a rare childhood disease

The Barcelona Institute of Biomedical Research (IRB Barcelona), based at the Barcelona Science Park, has been selected to carry out a research project within the Health Research 2025, endowed with €26 million, distributed among 25 research centres, hospitals, and universities in Spain and Portugal to implement them. Once again, the foundation demonstrates its commitment to funding 34 new biomedical research projects of excellence with potential social impact.

Among the awardees is Dr. María Macías, head of the Structural Characterization of Macromolecular Assemblies Laboratory at IRB Barcelona, who will develop a project to investigate new treatments for Myhre syndrome, a rare and incurable genetic disease that affects children. Although it is known to be caused by mutations in a gene that plays a crucial role in cellular signaling, there is currently no effective treatment. Available therapeutic options are limited to symptom management, which often worsens and leads to complications such as heart defects, intellectual disability, and respiratory problems.

Dr. Macías’ team at IRB Barcelona has already identified promising compounds that act on the defective gene and modulate its abnormal function. Now, in collaboration with researchers from the University of Santiago de Compostela (USC), they plan to identify new compounds through this project, which will later be tested in cellular models, including patient-derived cells, with the aim of developing effective treatments.

Through this project, new knowledge about Myhre syndrome will be generated, bringing hope to affected individuals and their families through the development of innovative treatments that address the underlying cause of this disorder and improve their quality of life.

The call, for which 714 applications in basic, clinical, and translational research were received in this edition, is specifically aimed at addressing health challenges in various fields: neuroscience, cardiovascular and metabolic diseases, oncology, infectious diseases, and enabling technologies in any of these areas.

The “CosmoCaixa” Science Museum hosted yesterday afternoon the award ceremony, attended by several representatives of the “la Caixa” Foundation, including the Deputy Director General of Research and Grants, Àngel Font, and the Deputy Director General, Esther Planas. Also, present were the President of the Luzón Foundation, María José Arregui, and the Vice President of Research at Breakthrough T1D, Esther Latres, as well as the research teams leading the projects.

» Link to the news: IRB Barcelona website [+]