Article

Modulating splicing in 5’ untranslated regions to treat rare haploinsufficient disease

2025-12-09

Abstract excerpt

Rare genetic disorders collectively impact over 300 million people worldwide, yet around 95% have no specific treatments. For the many rare disorders caused by haploinsufficiency, effective therapies need to upregulate protein expression. However, therapeutic upregulation is often not straightforward. Increasing protein translation of the wildtype allele through inhibiting repressive upstream open reading frames (...

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Literature Corpus work: 51d88010-4b71-52bf-a817-d3496dc14a10
DOI: 10.64898/2025.12.07.692584

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