Clinical Genomics in 2022- From Testing to Treatment

Clinical Genomics in 2022- From Testing to Treatment

Mary Greeley Medical Center via YouTube Direct link

Exon skipping . Common type of pathogenic variant

17 of 24

17 of 24

Exon skipping . Common type of pathogenic variant

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Clinical Genomics in 2022- From Testing to Treatment

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  1. 1 Intro
  2. 2 Objectives • Understand common indications for genetic testing
  3. 3 Why genetic testing?
  4. 4 Most common pediatric indications
  5. 5 Most common adult indications
  6. 6 Genetics in a pandemic
  7. 7 MITOCHONDRIAL GENOME SEQUENCING
  8. 8 Pretest counseling
  9. 9 ACMG 73
  10. 10 Limitations of genetic testing
  11. 11 Whole exome sequencing Overall yield: - 1/3 of cases solved
  12. 12 2 year old patient
  13. 13 Patient outcome
  14. 14 Treating genetic diseases
  15. 15 Duchenne Muscular Dystrophy
  16. 16 DMD - genetics
  17. 17 Exon skipping . Common type of pathogenic variant
  18. 18 Eteplirsen efficacy
  19. 19 Single patient trials
  20. 20 Ocular Gene Therapy
  21. 21 First Gene Therapy Approved
  22. 22 Spinal Muscular Atrophy Gene Therapy
  23. 23 Gene Therapy Clinical Trials
  24. 24 Summary

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