#SeminarIRSJD · Development of gene therapies for neuromuscular diseases

Auditori J. Plaza · Hospital Sant Joan de Déu Barcelona


  • Dra. Ana Maria Buj-Bello, researcher in INSERM (France).

Exclusive seminar for staff of the institution.


Gene transfer using recombinant adeno-associated viral (AAV) vectors represents a promising approach to treat human diseases. In this presentation, I will provide an overview of our work on the development of AAV-based gene therapies for two severe pediatric diseases, X-linked myotubular myopathy (XLMTM) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), and current challenges in the field.