Australian Magel 2 research closer to waking dormant maternal PWS genes
JAN 2018 – News from the Prader-Willi Research Foundation of Australia:
Associate Professor Marnie Blewitt at the Walter and Eliza Hall Institute of Medical Research (WEHI) has identified 3 well known medical compounds which are non-toxic, and all inhibit the activity of a protein known as SMCHD1. SMCHD1 normally keeps the maternal copy of MAGEL2 (a gene associated with PWS) and the neighbouring genes switched off, prompting the body to use the paternal copy instead, which is missing in PWS patients.
In Phase 2 of this project Associate Professor Blewitt plans to use mouse models to test whether inhibiting SMCHD1 with the new drugs activates these genes, in particular in brain cells where their function is most important. They will then be in a position to begin testing what impact activating these genes has on PWS symptoms.
Importantly, Associate Professor Blewitt has focused on testing widely used compounds which are already approved for human use, making the pathway to market shorter for any compounds shown to benefit PWS patients.
Phase 1 of this project was successfully completed with fundraising from PWSA Victoria, and the PWRFA, including community members Justin Johnson, Libby Johnson, Winnie Johnson, Fergus Johnson and the rest of Team Mabel who raised $27,000. PWRFA launched a targeted fundraising campaign to raise $28,000 for Phase 2, which they have achieved through seed funding from the Johnson family of Team Mabel, public donations of over $10,000 and $10,000 in matched donations from PWSA(NSW). PWRFA hope that when Phase 2 is underway, it will take about 6 months, with results expected in the second half of 2018.
