This invited lecture provided an updated overview of the current landscape of Spinal Muscular Atrophy (SMA) and Pompe disease treatments, delivered during the Region-9 Genomics (R9-GEM) 2025 event at Nakhon Ratchasima Hospital under the theme “Integrating Genomics for Personalized Patient Care.” The talk highlighted recent advances in genetic diagnostics, emerging disease-modifying therapies, and practical considerations for implementing personalized treatment strategies in clinical practice. Emphasis was placed on how genomics enables earlier diagnosis, informs therapeutic decision-making, and expands new possibilities for improving outcomes in patients affected by SMA and Pompe disease.