Switching sleeping genes back on could treat Prader-Willi at its cause, not just its symptoms

About 400,000 people worldwide live with Prader-Willi syndrome, a condition that affects the brain and body from birth — and every current treatment manages symptoms one by one rather than the cause. At WEHI in Melbourne, Professor Marnie Blewitt's team has now shown a way at the cause itself. In Prader-Willi, a protein called SMCHD1 keeps a set of healthy genes switched off. In a world-first study published in Science Advances, the team removed SMCHD1 and watched those dormant genes switch back on in patient-derived cells and animal models — without disturbing gene activity elsewhere in the body, the safety question that mattered most. 'We thought reactivating the sleeping genes might be possible — what we didn't know was whether we could do it safely,' Blewitt said. 'We now have the strongest evidence that removing SMCHD1 can restore gene activity lost in Prader-Willi syndrome.' Potential therapies are now advancing through a WEHI spinout company.

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