We design and evaluate antisense oligonucleotides (ASOs), CRISPR/Cas9 gene editing, and other RNA-based strategies to correct or modulate disease-causing mechanisms at the transcript or genome level. These approaches include exon skipping, splicing modulation, gene correction, and inhibition of toxic RNA species, and are tested in relevant patient-derived cellular models.

We develop and characterise cellular models using primary patient cells, immortalised lines, iPSC-derived cells, and CRISPR/Cas9-edited models to replicate disease mechanisms in vitro. A key focus of this research line is the development of quantitative and scalable assays—including in-cell and on-cell western-based methods such as myoblots and collablots, droplet digital PCR, and other custom immunodetection approaches—designed to enable robust and reproducible evaluation of therapeutic candidates.

We carry out small molecule screening to identify compounds that modulate RNA metabolism, improve muscle health, or enhance the efficacy or delivery of nucleic acid therapeutics. These studies use our disease models and validated quantitative readouts to support both discovery and preclinical validation.

We are strongly committed to transparency and reproducibility in preclinical research. A transversal element of our work is the effort to reduce publication bias, including the dissemination of negative or inconclusive results when methodologically sound, to contribute to a more rigorous and efficient scientific process.