Neurogenetics

Neurological disorders caused by genetic mutations often present significant diagnostic and therapeutic challenges due to their rarity, genetic complexity, and variability in clinical presentation. Our research group is dedicated to advancing the understanding, diagnosis, and treatment of these conditions through cutting-edge genomic and molecular approaches.

Our work focuses on the following key research areas:

1. Diagnosis and Treatment of Neurogenetic Diseases: We are committed to developing functional studies for the characterization and classification of variants of uncertain significance (VUS). To achieve this, we combine in silico analysis using AI tools like SpliceAI and Pangolin with molecular studies, including splicing reporter assays, gene/protein expression studies, and gene silencing and replacement techniques. By integrating these molecular findings with thorough clinical history reviews, we aim to determine the pathogenicity of novel genetic variants identified through genomic studies (such as exome and whole genome sequencing) in various neurological diseases.

We are collaborating with researchers from the Basque Country and Catalonia, as well as with European (1M1M) and American (N=1 Collaborative) groups, to establish the Spanish Network for Personalized RNA Therapies.