- Country: 臺灣TAIWAN
- Official Title: 名譽教授/主治醫師
- Department: 高雄醫學大學/高雄醫學大學附設中和紀念醫院
Speech Title
Precision Medicine for Genetic Neuromuscular Diseases: Exemplified by Spinal Muscular Atrophy
遺傳性神經肌肉疾病的精準醫療：以脊髓性肌肉萎縮症為例
Precision medicine has revolutionized the treatment landscape for genetic neuromuscular diseases (GNMD), with spinal muscular atrophy (SMA) serving as a prime example. Once the leading genetic cause of infant mortality worldwide, SMA—caused by mutations in the SMN1 gene—now benefits from targeted interventions that have significantly altered the disease’s natural progression and improved patient quality of life.
Breakthroughs in SMA targeted therapies, such as gene replacement (onasemnogene abeparvovec) and splicing modifiers (nusinersen, risdiplam), have dramatically enhanced patient outcomes. This presentation explores the precision medicine approach to SMA, focusing on the critical role of early genetic diagnosis, individualized therapy development, and tailored treatment strategies. It also highlights the necessity of a multidisciplinary approach to care, along with the integration of newborn screening and theranostics to optimize clinical results. By showcasing the mechanisms of action, clinical efficacy, and current research in these therapies, this discussion extends to the broader implications for other GNMDs, emphasizing the ongoing potential for innovation in precision medicine across the field.