The Prader-Willi Research Foundation of Australia (PWRFA) is delighted to be joined by the US Foundation for Prader-Willi Research (FPWR) to support cutting edge Prader-Willi syndrome (PWS) research by Ass/Prof Marnie Blewitt at Australia’s Walter and Eliza Hall Institute (WEHI).
PWRFA’s donors have funded earlier stages of Ass/Prof Blewitt’s research, which allowed her to identify and test compounds that inhibit SMCHD1, a protein which silences PWS-region genes on the maternal chromosome 15. These genes are known to cause PWS and it is hoped that by inhibiting SMCHD1, we can allow these vital genes to reactivate.
Based on the success of Ass/Prof Blewitt’s early stage work the US FPWR is investing in the next research stage, which will allow testing on patient cells displaying PWS and Shaafs Yang Syndrome.
If Ass/Prof Blewitt can show that eliminating SMCHD1 does activate the target genes in these cells, this will serve as proof-of-concept for a potential genetic therapy for both PWS and Schaafs Yang Syndrome. While proof-of-concept remains a long way from a viable and available treatment, it is a vital step toward addressing these underlying genetic conditions.
“Ass/Prof Blewitt’s work gives people with PWS and their families incredible hope for a life-changing treatment,” PWRFA CEO Kath Jones said today.
“PWS is such a complex, multisystemic condition that treatment of each symptom would involve an enormous research and development effort – while requiring a person receiving treatments to take many medicines and undergo a significant number of interventions.”
“Targeting the genetic cause of PWS on the other hand could mean a more focused treatment development, and produce a treatment which is more comprehensive, more effective and easier to administer.”
You can learn more about Ass/Prof Blewitt’s amazing work in this short video.