Neuromuscular diseases

Neuromuscular diseases encompass a wide range of conditions that affect the muscles and the nerves that control them, often leading to progressive weakness and disability. Among these, muscular dystrophies are particularly challenging due to their genetic complexity and the lack of effective treatments. Our research aims to deepen the understanding of these diseases at both the clinical and molecular levels, with the goal of developing new therapeutic strategies.

Our research group is focused on the following key areas:

1. Clinical Characterization and Molecular Basis of Muscular Dystrophy Due to Snurportin Mutations: Building on our recent discovery of pathogenic variants in the SNUPN gene responsible for a newly identified form of muscular dystrophy (Iruzubieta et al., Brain 2024), this research line aims to expand the clinical characterization to additional families and conduct molecular studies. We will investigate the expression and function of both wild-type and mutant Snurportin-1 using in vitro models (such as condensate formation and protein interactions), ex vivo studies (derived from patient myoblasts), and in vivo analyses (using a knockout mouse model). Furthermore, we are initiating a collaboration with Viralgen to develop a gene therapy for SNUPN using AAV (adeno associated vectors). 

FUNDING