Biomedical Research Group on Rare Diseases (GIRBER) at the University of Salamanca

Committed to scientific progress in rare diseases

The GIRBER is a biomedical research group specialising in rare diseases at the University of Salamanca, combining scientific excellence with social commitment to advance translational research.

Our multidisciplinary and highly specialised team employs the latest advanced genomics technologies, bioinformatics, and cellular models, combined with profound clinical expertise to unravel the molecular mechanisms underlying these pathologies.

We work with a clear objective: to translate scientific knowledge into tangible clinical applications that positively impact the quality of life of patients and families affected by rare diseases.

Research Lines



Phenotypes - Functional Genetics of Rare Diseases

We investigate the impact of genetic variants on rare diseases through advanced cellular models. Our objective is to correlate genomic alterations with clinical manifestations, laying the groundwork for personalised therapies and enhancing genetic counselling for affected families.



Advanced Molecular Diagnosis of Ultra-Rare Diseases

We develop Next-generation sequencing (NGS) panels and bioinformatics pipelines to identify mutations in undiagnosed cases. We combine genomics and functional analysis to reduce the diagnostic odyssey, providing responses to patients with extremely rare diseases.



Cancer and Rare Diseases

We study molecular targets in tumours associated with rare syndromes (such as neurofibromatosis), using omics techniques.



RASopathies

We characterise alterations in the RAS/MAPK pathways through multi-omics approaches, ranging from mutations to the dysregulation of protein networks, our findings contribute to the understanding of syndromes such as Noonan, Legius, and neurofibromatosis type 1.

Research Team

Composed of a multidisciplinary team of experts in biomedicine specialising in rare diseases, our group integrates diverse specialties to drive significant advances in the diagnosis and understanding of these conditions. Each researcher contributes their unique expertise and scientific commitment to transform knowledge into tangible solutions that improve patients' lives.