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5% SMA"Non-carrier" Parents?
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Spinal Muscular Atrophy - Webinar - Ambry Genetics
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- 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!
