La Caixa Foundation backs research into new treatments for a rare disease

”la Caixa”  Foundation has selected 34 new biomedical research projects of excellence for the CaixaResearch Health Research 2025 Programme, which is endowed with €26 M. These projects will be carried out by 25 research centres, hospitals, and universities in Spain and Portugal.

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

Among the awardees is Dr. Maria Macias, head of the Structural Characterization of Macromolecular Assemblies lab at IRB Barcelona, whose research on Myhre syndrome has been selected to receive funding. 
 

New treatments for a rare disease: Myhre syndrome

Myhre Syndrome is a rare, 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 signalling, there is currently no effective treatment. Existing therapeutic options are limited to symptom management, and these symptoms often worsen, leading to complications such as heart defects, intellectual disability, and respiratory problems.

Dr. Macias’ team has already identified promising compounds that act on the defective gene and modulate its abnormal function. Now, working alongside researchers from the University of Santiago de Compostela (USC), through this new project, they plan to identify new, even more compounds, which will then be tested in cellular models, including cells derived from patients, with the goal of developing effective treatments. This project will shed light on Myhre Syndrome and offer hope to patients and their families by developing innovative treatments that address the underlying cause of the disorder and improve the quality of life for people living with the disease.

The CosmoCaixa Science Museum will be hosting the award ceremony this afternoon, which will be attended by various representatives of the 'la Caixa' Foundation, including the Deputy Director General for Research and Grants, Àngel Font, and the Deputy General Director, Esther Planas. Also present at the ceremony will be the President of the Luzón Foundation, María José Arregui, and the Vice President of Research at Breakthrough T1D, Esther Latres, in addition to the researchers leading the projects.