Commentary
Video
The Clinical Shift Toward Genomic Therapies in Neuromuscular Medicine: Omer A. Abdul Hamid, MD
The neuromuscular neurologist at Nemours Children's Hospital in Florida talked about the increasing role of genomic medicine in neuromuscular disorders. [WATCH TIME: 4 minutes]
WATCH TIME: 4 minutes
"We're living in the time of genetic medicine, where now we have a better understanding of genetics and what causes the underlying mechanisms of disease."
Pediatric neuromuscular medicine addresses a spectrum of inherited and acquired disorders that impair muscle function in children, such as spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD). Early diagnosis for these conditions may be crucial; for instance, newborn screening for SMA can help enable timely intervention with therapies like nusinersen (Spinraza; Biogen), risdiplam (Evrysdi; Genentech), and onasemnogene abeparvovec (Zolgensma; Novartis), which have shown significant improvement in patient outcomes. Thus, these advancements possibly underscore the importance of integrating genetic testing and early therapeutic strategies in pediatric care.
The promise of genetic therapies in neuromuscular diseases is exemplified by the development of antisense oligonucleotides (ASOs) and gene therapies targeting specific genetic mutations.1 For example, ASOs like nusinersen have demonstrated efficacy in modifying splicing defects in SMA, leading to improved motor function. Similarly, gene therapy approaches, such as the use of adeno-associated virus vectors to deliver functional genes, have shown potential in treating various neuromuscular conditions. These advancements in genetic therapies can potentially transform the landscape of pediatric neuromuscular medicine, offering hope for more effective and personalized treatments.
Adding to this clinical perspective, Omer A. Abdul Hamid, MD, explored how genomic therapies may transform the landscape of neuromuscular disorder treatment by targeting diseases at their genetic roots in a recent conversation with NeurologyLive®. Hamid, neuromuscular neurologist at Nemours Children's Hospital in Florida, emphasized the complexity of implementing these therapies in clinical practice. Hamid also highlighted the importance of collaboration among colleagues and the use of artificial intelligence to streamline documentation and communication processes. Looking ahead, he expressed optimism about ongoing research and innovations in gene delivery and early diagnostic strategies, especially in newborn screening.
