Melbourne, Australia — Australian researchers are at the forefront of genetic science, pursuing a groundbreaking approach that aims to correct the root cause of Prader-Willi Syndrome (PWS), a rare, complex genetic disorder associated with insatiable hunger (hyperphagia) and developmental challenges.
Scientists at institutions like the Walter and Eliza Hall Institute of Medical Research (WEHI) are investigating whether a genetic fault that causes PWS can be overcome by “waking up” silent genes. PWS is typically caused by the absence of a set of paternal genes on chromosome 15 (specifically, the 15q11-q13 region), as the equivalent maternal genes are silenced, a phenomenon called imprinting.
The research focuses on using chemical compounds to target and temporarily silence a key enzyme, SMCHD1, which acts as a gene silencer. By inhibiting SMCHD1, researchers have successfully reactivated the silenced maternal copy of the crucial genes, such as MAGEL2, in laboratory models. The long-term goal is to develop a safe and effective drug that could keep these maternal genes active, potentially reducing the severe symptoms and significantly improving the quality of life for the estimated one in 17,000 Australians born with the syndrome.
This advancement is part of a broader, collaborative effort supported by the Prader-Willi Research Foundation of Australia (PWRFA) to accelerate treatments and establish Australian research platforms, including the Chromosome 15 Biobank, to link genetic data with clinical history.