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Genetic Medicine

What Is Exon Skipping?

Genes are often read in sections. Some sections, called exons, are stitched together into the final RNA message that tells a cell how to make a protein. In some diseases, one damaged section disrupts the whole message. Exon skipping uses a therapy, often an ASO, to hide a selected exon during RNA processing so the cell skips over it.

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Plain-English explanation

Genes are often read in sections. Some sections, called exons, are stitched together into the final RNA message that tells a cell how to make a protein. In some diseases, one damaged section disrupts the whole message. Exon skipping uses a therapy, often an ASO, to hide a selected exon during RNA processing so the cell skips over it.

Why it matters

Exon skipping is most familiar in Duchenne muscular dystrophy, where certain therapies aim to help cells make a shorter form of dystrophin. It is not a cure and it only applies to specific mutations, but it shows how precision medicines can be matched to a person's exact genetic change.

How it works

An exon-skipping drug binds to pre-mRNA near a target exon. This changes how the cell's splicing machinery reads the message. If skipping the exon restores the reading frame, the cell may produce a shorter protein that still has some function. The key questions are whether the right exon is skipped, whether enough protein is made, and whether that protein changes clinical outcomes families can feel.

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Key terms

ExonSplicingDystrophinReading FrameASO

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