Gene therapy basics · USMLE Step 1

Which gene therapy approach could potentially treat a recessive loss-of-function genetic disease by restoring missing protein function?

  1. Gene silencing of a dominant mutant allele in the cell
  2. Adding a functional copy of the defective gene
  3. Germline deletion of every copy of the gene
  4. Overexpression of a non-coding regulatory RNA
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Correct answer: Adding a functional copy of the defective gene

In loss-of-function recessive disorders, adding a correct functional copy of the gene restores protein production and corrects disease — a classic gene-addition application.

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