This year our incredible PWS family and friends have achieved amazing things - organising and attending our Finding 15 Walks, participating in runs, treks and walks in Australia and abroad, hosting large events, and asking friends and family to donate money to fund Prader-Willi Syndrome research in Australia. We salute the support, dedication and effort of these Rockstars. Research costs money, and without your efforts to raise money this work doesn’t happen. So, where has your money gone? It’s been a busy year at Prader Willi Research Foundation Australia (PWRFA). Here’s some of what we have achieved and what we are working towards:
PWS Clinical Trials in Australia
PWRFA supports local and international clinical trials in Australia including 2 Hyperphagia Phase 3 trials
Livoletide – currently recruiting
Carbetocin – recruiting to commence soon
Newborn Experience Research
We recently launched our first-ever grant for research proposals to support the Newborn Experience of kids and families living with PWS. This $25,000 grant-generated a number of proposals. Our Scientific Advisory Council has narrowed the group down to 3 promising options. PWRFA will select the winning proposal to begin research shortly.
Magel 2 Epigenetic Research
Through PWRFA many PWS families have already invested in A. Prof Marnie Blewitt’s groundbreaking research into the Magel 2 gene cluster, which impacts people living with PWS. We are now up to Stage 3 of this research and it is attracting new interest from large donors keen to support this work. This year PWRFA invested $10,000 to support A. Prof Blewitt’s PhD student Meg Iminitoff. Meg will use this funding to travel to Europe to study development of human cell models of PWS. This work will be vital in advancing A. Prof Blewitt’s work.
Exercise Training Research
This year we committed PWRFA donor funds to support Prof Nora Shields research into exercise training and its impact on people living with PWS. Prof Shield’s pilot project was subsequently awarded national Medical Research Future Fund (MRFF) funding allowing Prader Willi Research Foundation Australia and the US Foundation of Prader Willi Research (FPWR) to co-fund a PhD top-up to support this research and investigate the effects of exercise among younger people living with PWS
New Research Project Development
In addition to these important projects, PWRFA Research Director Dr Diane Webster is currently working with Australian Scientists and our Scientific Advisory Council on 6 potential new research projects covering a range of issues including growing our epigenetic program of work, research infrastructure and brain development.
Better PWS Healthcare Model
In the last year the PWRFA was able to join with Rare Voices Australia to attend the Commonwealth Parliament in Canberra for a series of meetings to advocate for development of healthcare centres of excellence for rare diseases including PWS. We have also been developing our own PWS specific healthcare model – leveraging centres of excellence to connect GPs and specialists around Australia with specialist information and support for patients with PWS. We have allocated $50,000 of donor funds to this project and will hope to launch our own pilot project launched in the first half of 2020.
International Cooperation
PWRFA also funded our Research Director Dr Webster to attend the FPWR’s conference in October. She was able to connect with scientists and families from all over the world to understand how Australia researchers can collaborate and coordinate their work on PWS to ensure we are all pushing in the right direction
Victorian Parliament Advocacy
Recently PWRFA partnered with Victorian MPs James Newbury and Juliana Addison to hold an event for Victorian MPs to meet PWS families, researchers, supporters and the PWRFA. We were able to educate and advocate for funding for medical research and better healthcare services for people living with PWS.2019 has been a significant year for PWRFA and the families and friends that have raised money with Australia’s only PWS focused research foundation. With so many projects moving ahead we can really feel momentum building for our mission. With your continued help, 2020 will be an even bigger year – moving us closer and closer to the future all of our children deserve.