Sarepta’s AAV gene therapy for this disease, Elevidys, introduces a “micro” form of this disease’s affected protein, but was paused by the FDA in June 2025 after two patients died from side effects. For 10 points each:
[10m] Name this degenerative X-linked disease whose symptoms include Gower’s sign, in which patients must “walk” their hands up their thighs to stand.
ANSWER: Duchenne Muscular Dystrophy [accept DMD; prompt on muscular dystrophy]
[10h] Other therapies for Duchenne’s involve these molecules, which comprise the ALS disease-modifying drug tofersen. The spinal muscular atrophy drug Spinraza uses these short, synthetic RNA-binding sequences to alter SMN2 expression.
ANSWER: antisense oligonucleotides [or ASOs or AONs; prompt on morpholinos, phosphorodiamidate morpholino oligomers, or PMOs by asking “morpholinos are other examples of what sequences?”]
[10e] Antisense oligonucleotides can be used to “skip” these genomic sequences in order to restore the reading frame of functional dystrophin. These sequences are retained in mRNA during splicing.
ANSWER: exons
<AY, Biology>