MELBOURNE, Oct. 27 (Xinhua) -- Researchers in Australia 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 rare genetic disorder.
Researchers at Australia's Walter and Eliza Hall Institute of Medical Research (WEHI) found that removing a protein called SMCHD1 lifted the genetic "brake," allowing healthy but dormant genes to switch back on, according to a WEHI statement released Tuesday.
In Prader-Willi syndrome, the protein switches off certain genes essential for development and brain function, contributing to developmental delays, intellectual disability and an insatiable appetite that can lead to obesity. About 400,000 people worldwide live with the condition, the statement said.
The study, published in Science Advances, used CRISPR gene-editing, stem-cell and genomic technologies to examine the effects of removing SMCHD1 in patient-derived cells and animal models.
Current treatments mainly address symptoms rather than the underlying cause, often relying on multiple medications, surgeries and specialist care, providing limited relief, the researchers said, adding that potential new therapies targeting the cause of Prader-Willi syndrome are now advancing through a WEHI spinout company. ■
