Explore the molecular genetics and clinical aspects of diagnosing and treating Spinal Muscular Atrophy (SMA) in this informative 56-minute webinar presented by Ambry Genetics. Learn about the natural history of SMA and how recent FDA-approved therapies have transformed the outlook for this once-fatal disorder. Gain insights from expert genetic counselors Elicia Estrella and Brissa Martin as they discuss SMA incidence, classification, inheritance patterns, and therapeutic strategies. Delve into topics such as SMN1 gene discovery, SMN protein function, and the relationship between SMA type and SMN2 copy number. Examine breakthrough treatments like Nusinersen/Spinraza and gene therapy, along with emerging therapies in the drug pipeline. Understand the importance of carrier screening, newborn screening, and comprehensive patient care for SMA. This webinar provides valuable knowledge for healthcare professionals, researchers, and anyone interested in the latest advancements in SMA diagnosis and treatment. Read more