Switching a healthy gene back on could change life for 400,000 people with Prader-Willi syndrome

About 400,000 people worldwide live with Prader-Willi syndrome, a complex condition affecting the brain that brings lifelong physical and developmental challenges — and no treatment that tackles its root cause. At WEHI in Melbourne, researchers found why: healthy genes that should be working are silenced by a genetic 'brake', a protein called SMCHD1. In a world-first study, removing that brake switched the dormant genes back on, restoring their activity in patient-derived cells and in animal models without causing problems elsewhere in the body. The work is now being carried toward new medicines through WEHI spinout Togglelux Therapeutics — early days, but the first clear path yet to treating the condition at its source.

SDG 3 · Good health and well-being — Mechanism: tech innovation