Spinal Muscular Atrophy: Faster Diagnosis, More Targeted Therapies

Understanding Spinal Muscular Atrophy (SMA) is one of the most important challenges in pediatric medicine. A major obstacle in this disease is that, for some patients with specific genetic mutations, diagnosis still takes too long, delaying the start of therapy.

In this context, the project, promoted in collaboration with the Fondazione Visitatrici per la Maternità Ada Bolchini Dell’Acqua ETS, aims to identify molecular markers useful for monitoring disease progression and assessing the efficacy of currently available therapies. Researchers at the “Centro Dino Ferrari” are using advanced genetic sequencing technologies to identify mutations in the SMN1 gene and create patient-specific in vitro models.

This approach will allow for faster SMA diagnosis and timely initiation of effective treatments such as antisense oligonucleotides, small molecules, and gene therapy. The ultimate goal is to improve clinical monitoring and therapeutic efficacy, accelerate diagnosis, and pave the way for an increasingly personalized therapeutic approach.