Evidence map›Paper›PMID 42853925›Full record

ArticleScience advances2026

SMCHD1 is a target for gene activation therapy to treat Prader-Willi syndrome.

Megan Iminitoff, Anna Le Fevre, Tamara Cameron, Hannah K Vanyai, Caleb Chew, Sarah A Kinkel, Kelsey Breslin, Susanne Theiß, Quentin Gouil, Merlin Thomas and 4 more

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Article in Science advances, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Megan IminitoffThe Walter and Eliza Hall Institute of Medical Research, Parkville 3052, VIC, Australia.ORCID 0009-0005-0513-3392
Anna Le FevreThe Walter and Eliza Hall Institute of Medical Research, Parkville 3052, VIC, Australia.ORCID 0000-0001-5843-9516
Tamara CameronThe Walter and Eliza Hall Institute of Medical Research, Parkville 3052, VIC, Australia.ORCID 0000-0002-1125-1871
Hannah K VanyaiThe Walter and Eliza Hall Institute of Medical Research, Parkville 3052, VIC, Australia.ORCID 0000-0001-7761-0606
Caleb ChewThe Walter and Eliza Hall Institute of Medical Research, Parkville 3052, VIC, Australia.ORCID 0009-0000-7747-0367
Sarah A KinkelThe Walter and Eliza Hall Institute of Medical Research, Parkville 3052, VIC, Australia.
Kelsey BreslinThe Walter and Eliza Hall Institute of Medical Research, Parkville 3052, VIC, Australia.ORCID 0000-0003-4616-8215
Susanne TheißInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Quentin GouilThe Walter and Eliza Hall Institute of Medical Research, Parkville 3052, VIC, Australia.ORCID 0000-0002-5142-7886
Merlin ThomasDepartment of Diabetes, Monash University, Clayton, VIC, Australia.
James M MurphyThe Walter and Eliza Hall Institute of Medical Research, Parkville 3052, VIC, Australia.ORCID 0000-0003-0195-3949
Christian P SchaafInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Andrew KeniryThe Walter and Eliza Hall Institute of Medical Research, Parkville 3052, VIC, Australia.ORCID 0000-0002-4061-9540
Marnie E BlewittThe Walter and Eliza Hall Institute of Medical Research, Parkville 3052, VIC, Australia.ORCID 0000-0002-2984-1474

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder caused by loss of expression from the active paternal allele at an imprinted cluster on chromosome 15. Current treatments address individual symptoms rather than the underlying cause of disease. Because all patients preserve a normal but epigenetically silenced maternal copy of these genes, activation of this copy offers a potential disease-modifying therapy. Here, we investigated the epigenetic regulator SMCHD1. First, we demonstrated that SMCHD1 represses the PWS locus in both mice and humans, supporting its relevance as a therapeutic target. Second, we found that SMCHD1 represses the entire PWS locus in neural lineages, extending its previously known role beyond only part of the cluster. Deleting

Indexed as

Chromosomal Proteins, Non-HistoneGenetic TherapyPrader-Willi SyndromeAnimalsChromosomes, Human, Pair 15Disease Models, AnimalEpigenesis, GeneticFemaleGenomic ImprintingHumansHypothalamusMiceChromosomal Proteins, Non-HistoneSmcHD1 protein, mouse

Identifiers

PMID42853925
PMCPMC13651870

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.