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WEHI researchers have discovered a way to release a genetic 'brake' that silences healthy genes in Prader-Willi syndrome, opening a potential new path to treating the condition.

About 400,000 people worldwide live with Prader-Willi syndrome, a complex and devastating condition that affects the brain, causing lifelong physical and developmental challenges.

In a new study, researchers showed that removing a protein called SMCHD1 lifts a genetic 'brake,' allowing healthy but dormant genes to switch back on. The findings are published in the journal Science Advances.

The discovery offers hope for a treatment that targets the underlying cause of Prader-Willi syndrome and is now being advanced toward potential new medicines through WEHI spinout company Togglelux Therapeutics.

Discovered at WEHI in 2008, SMCHD1 is a protein that helps regulate gene activity.

In Prader-Willi syndrome, it switches off certain genes essential for development and brain function—contributing to symptoms like developmental delays, intellectual disability and an insatiable appetite that can lead to obesity.

People with Prader-Willi syndrome often rely on multiple medications, surgeries and specialist care, but these treatments address symptoms rather than the cause, providing limited relief.

In the new study, the team combined CRISPR gene-editing, stem-cell and genomic technologies to track what happened when SMCHD1 was removed, measuring the effects across thousands of genes and in the most disease-relevant brain tissue.

Lead researcher Marnie Blewitt said one of the study's most important findings was that gene activity could be restored without causing problems elsewhere in the body, a critical step toward developing future treatments for babies and young children.

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