Spinal Muscular Atrophy - Webinar - Ambry Genetics

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.

Intro
Learning Objectives
Spinal Muscular Atrophy (1891-1892)
Spinal Muscular Atrophy (Type 1)
SMA Incidence and Prevalence Are Different
Age of Onset Classification (Munsat et al. MDA, 1992)
FUNCTIONAL CLASSIFICATION Continuum of severity-Phenotypic spectrum
Discovery of SMN1 gene
SMN Protein Function?
SMA Type & SMN2 Copy Number
Autosomal Recessive Inheritance
5% SMA"Non-carrier" Parents?
Carrier Frequency of 5 SMA
SMA Therapeutics
Therapeutic Strategies for SMA
SMA Clinical Trials Anti-Sense Oligos (ASO)
Nusinersin/Spinraza: Modulating Splicing of SMN2 to Increase Normal SMN Protein
Nusinersin/Spinraza Studies
Spinraza - 1st SMA Treatment
Spinraza at BCH
Gene Therapy at BCH
SMA Drug Pipeline
PTC-Roche Pharmaceuticals: Oral SMN2 splicing modifier
SMA Carrier Screening
New Born Screening for SMA
SMA Patient Care
In normal infants, motor units are established postnatally They are lost early and precipitously in patients with SMA
Use of Multiple Therapies
Thank you!