2022-09-21T04:42:47+03:00[Europe/Moscow] en true <p>Gene therapy</p>, <p>SPINRAZA (nusinersen)</p>, <p>EXONDYS 51</p>, <p>TRIKAFTA</p>, <p>2 copies of F508del mutation; class II</p>, <p>In-frame</p>, <p>Class I</p>, <p>Class III</p> flashcards
Last minute Genomic shit

Last minute Genomic shit

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  • Gene therapy

    -aims to deliver functional copies of target gene where disease manifests.

  • SPINRAZA (nusinersen)

    -survival motor neuron 2 AS-ON

    -indicated for SMA

    -increases exon 7 inclusion and makes full-length SMN protein

  • EXONDYS 51

    -AS-ON

    -treatment of patients who have DMD and cannot produce dystrophin

    -medication recognizes exon 51 and binds; influencing splicing machinery to skip exon 51

  • TRIKAFTA

    -CF medication indicated for patients 6 years or older

    -must have at least one mutation in CFTR gene that is responsibe

  • 2 copies of F508del mutation; class II

    In order to take ORKAMBI, the patient must have what mutation?

  • In-frame

    Orkambi is for patients who possess what type of mutation?

  • Class I

    -CF class with nonsense mutation

    -leads to very short and unstable CFTR protein

  • Class III

    -G551D mutation

    -CFTR protein is trafficked from ER to cell surface, but cl ion gate is closed or faulty