Spinal Muscular Atrophy - Webinar - Ambry Genetics

Spinal Muscular Atrophy - Webinar - Ambry Genetics

Ambry Genetics via YouTube Direct link

Spinraza - 1st SMA Treatment

19 of 29

19 of 29

Spinraza - 1st SMA Treatment

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Spinal Muscular Atrophy - Webinar - Ambry Genetics

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

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