Prader-Willi Research Foundation Australia

PWRFA exists to transform clinical outcomes and available treatments for people living with Prader-Willi Syndrome. We fund cutting-edge research to help people with Prader-Willi Syndrome live independent lives, free from the most debilitating symptoms. PWRFA funding has accomplished the following achievements within the research and development space.

 

• 2018 – PWRFA Funded Professor Marnie Blewitt from WEHI to test and develop a potential mechanism for activating the Magel2 gene cluster. The Blewitt lab is now working on a global contender for a geneactivation treatment for PWS, with 4 full-time and 3 part-time scientists. We continue to fund Prof Blewitt’s research.

 

• 2020 – Establishment of a Chromosome 15 Biobank in collaboration with A/Prof David Godler at the MCRI.

 

• 2023 -PWRFA announced funding for Australia's first PWS dedicated Nurse Coordinator, as the first stage in the PWS Centre of Expertise. Working with the clinical team at Queensland Children’s Hospital the nurse will provide PWS centric care coordination for newborns and children diagnosed with PWS.

   

   

• 2023 – Funding Professor Marnie Blewitt at WEHI (Walter and Eliza Hall Institute of Medical Research) to progress early work on an antisense oligonucleotide (ASO), which so far indicates some activation of the silenced maternal genes in the PWS region. This a potential treatment relevant to all people with PWS.

 

PWRFA is a registered health charity, ABN 21 605 291 816, with DGR status.