Australian scientists reactivate blocked healthy genes to target rare Prader-Willi syndrome
Researchers at the Walter & Eliza Hall Institute in Melbourne have identified a way to reactivate dormant healthy genes by removing the SMCHD1 protein, offering a potential disease-modifying approach for Prader-Willi syndrome.
A research group at Melbourne's Walter & Eliza Hall Institute has demonstrated that eliminating the SMCHD1 protein can lift a genetic “brake” and reactivate healthy genes that are otherwise silent in Prader-Willi syndrome. Using advanced CRISPR editing, stem-cell cultures from patients, and animal models, the scientists showed that the targeted deletion restores activity of genes essential for normal brain development.
The work appears in the journal Science Advances and marks a move toward interventions that correct the underlying genetic cause rather than merely managing symptoms such as constant hunger and intellectual disability. Current treatments largely rely on medication, surgery and ongoing monitoring. The institute has already helped launch a biotech company to develop therapies based on this gene-reactivation approach.
Why it matters
It opens a path toward treating the genetic root of a rare disorder affecting many worldwide.
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