Article

SMCHD1 is a novel target for gene-activation therapy to treat Prader-Willi Syndrome

2026-05-14

Abstract excerpt

<h4>ABSTRACT</h4> Prader-Willi Syndrome (PWS) is a neurodevelopmental disorder caused by lack of gene expression from the active paternal allele at an imprinted gene cluster on chromosome 15. Current treatments have limited efficacy as they target individual symptoms rather than the underlying cause of disease. All patients preserve a normal, yet epigenetically-silenced, copy of the PWS cluster genes; activation...

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Literature Corpus work: c230acf3-bcf9-5298-b3d6-5ed2e51f4149
DOI: 10.64898/2026.05.13.725051

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