Completed
In normal infants, motor units are established postnatally They are lost early and precipitously in patients with SMA
Class Central Classrooms beta
YouTube videos curated by Class Central.
Classroom Contents
Spinal Muscular Atrophy - Webinar - Ambry Genetics
Automatically move to the next video in the Classroom when playback concludes
- 1 Intro
- 2 Learning Objectives
- 3 Spinal Muscular Atrophy (1891-1892)
- 4 Spinal Muscular Atrophy (Type 1)
- 5 SMA Incidence and Prevalence Are Different
- 6 Age of Onset Classification (Munsat et al. MDA, 1992)
- 7 FUNCTIONAL CLASSIFICATION Continuum of severity-Phenotypic spectrum
- 8 Discovery of SMN1 gene
- 9 SMN Protein Function?
- 10 SMA Type & SMN2 Copy Number
- 11 Autosomal Recessive Inheritance
- 12 5% SMA"Non-carrier" Parents?
- 13 Carrier Frequency of 5 SMA
- 14 SMA Therapeutics
- 15 Therapeutic Strategies for SMA
- 16 SMA Clinical Trials Anti-Sense Oligos (ASO)
- 17 Nusinersin/Spinraza: Modulating Splicing of SMN2 to Increase Normal SMN Protein
- 18 Nusinersin/Spinraza Studies
- 19 Spinraza - 1st SMA Treatment
- 20 Spinraza at BCH
- 21 Gene Therapy at BCH
- 22 SMA Drug Pipeline
- 23 PTC-Roche Pharmaceuticals: Oral SMN2 splicing modifier
- 24 SMA Carrier Screening
- 25 New Born Screening for SMA
- 26 SMA Patient Care
- 27 In normal infants, motor units are established postnatally They are lost early and precipitously in patients with SMA
- 28 Use of Multiple Therapies
- 29 Thank you!
