Clinical Trial Update, Pitolisant sites coming to Australia.

We were incredibly excited to share that TEMPO, the Harmony Biosciences phase three trial of Pitolisant in people with PWS, is coming to Australia. PWRFA has been working behind the scenes for months to make this trial happen and for years to build the overall clinical trial ecosystem in Australia.

TEMPO is a randomised, double blind, placebo-controlled trial, that will include an open-label extension phase. The TEMPO study will investigate the impact of Pitolisant on excessive daytime sleepiness and behaviour in PWS. The study seeks to recruit 134 people globally, with multiple trial sites located around Australia. To read more information about Harmony Biosciences and Pitolisant see here https://www.harmonybiosciences.com/science/.

We at PWRFA are incredibly grateful for this opportunity as trials within Australia are hard to procure due to our natural geographical isolation, our smaller population size and clinician workforce.

We will keep you up to date with all the latest information as it becomes more available.

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SAVE THE DATE - 2024 Asia Pacific PWS Conference

We are delighted to deliver the 2024 Asia Pacific PWS Conference, in partnership with PWSA (Australian parents’ support organisation), PWS New Zealand, PWS Thailand and PWS Malaysia.

Reflecting the gap in PWS psych capability in Australia, we have both Dr Deepan Singh and Prof Tony Holland headlining the two days.

Friday 30th August will be a dedicated research day, designed for scientists and clinicians to share the latest PWS research, whilst enabling access for families.  We will also showcase learnings from the PWS Centre of Expertise.

Please put this conference in your diaries for 30-31 August 2024.

2023 Showcase celebrates PWS research

Scientists Prof Tony Hannan (Florey Institute), Dr Emma Baker (MCRI), Dr Claudine Kraan (MCRI), Assoc Prof  David Godler (MCRI), Prof David Amor (MCRI) and Prof Marnie Blewitt (WEHI).

We were thrilled to host our 2023 Research Showcase at the Melbourne Lyceum Club last month to connect and celebrate the building momentum in Australian Prader-Willi research.

Magic happens at events like these, where our community - families, scientists and supporters - come together to further PWS research.  

It was wonderful to hear our panel of researchers, Professor Marnie Blewitt, Associate Professor David Godler and Dr Claudine Kraan share the work they are undertaking to change lives with PWS.  It was humbling and uplifting to hear that Assoc Prof Godler started working on PWS in response to meeting our Founder Kathlene Jones.  We are filled with hope when hearing that Prof Blewitt’s team has grown to four full-time and three part-time scientists, working on gene activation at WEHI.   

The night was a very special celebration of the progress in Australian PWS research, with real momentum building in our community’s priority areas, including the PWS Centre of Expertise, the Chromosome 15 biobank, clinical trials, model systems like brain organoids and cell lines, and work on two technology fronts to activate the PWS genes (medicinal chemistry for a potential drug and ASOs).

We were delighted to provide a sneak peak of the Australian PWS Research Roadmap, laying out our vision to harness and direct the talent of leading Australian experts to improve clinical outcomes and deliver better treatments for people living with PWS.

In 2024 our focus will remain on building cross-sector relationships, with and between scientists, clinicians, industry and government, and ensuring that the patient and family voice is embedded in all research initiatives.

We look forward to continuing to accelerate and embed our work on both a national and global scale, all with our wonderful PWS community’s support.  So many in our community who support our work aren’t personally touched by PWS, and we thank all those investing your time, energy and resources to improving life for our children and adults.

 Finally, our most heartfelt thanks to hosts Sue Morphett and Charles Sitch for their ongoing generosity and support.

Parents Sandra Peles, Kathlene Jones, Katie Albanis, Tina Costanzo, Brendan Bostock and Susi Bostock.

PWRFA Research Director Diane Webster, CEO Kathlene Jones, Board Director Susan Blair, and Chair Duncan McGauchie.

Kathlene Jones, Prof Marnie Blewitt, Leo Lui and Diane Webster.

What is the history of the Prader-Willi Foundation Australia May event?

In 2019, PWRFA was fortunate to be able to host in person events in Sydney, Melbourne, Newcastle, Orange and WA. These events provided a truly incredible opportunity for PWS families and friends to come together and celebrate exercise and enjoy a sense of community. In 2020, we pivoted to a digital only campaign and launched the 'MOVE' initiative. In 2021, we were fortunate to be able to hold a hybrid online and in person MOVE 15KM campaign. This worked extremely well and saw individuals and teams participate on their own or in a local group to MOVE for PWS.

What is the impact of the funds raised at the May event?

  • PWRFA funds support scientists like Dr Leighton, who is working to understand how SNORD116 works

  • PWRFA funds support scientists like Dr Waryah and Prof Blewitt who are investigating PWS gene activation strategies

  • PWRFA funds support scientists like Professor Nixon whose work will lead to a better understanding of sleep-disordered breathing in PWS

We'd love for you to join us this May but Moving 15 KM to help us drive the research forward for all people with PWS.

See what some of the teams will be getting up to over on https://www.facebook.com/PWRFA

Congratulations to Meg Iminitoff

Congratulations to Meg Iminitoff who reached the finals of the 3MT (3 minute thesis competition) at The Univseristy of Melbourne. This is a prestigious competition where PhD students have the chance to present their thesis to a non-specialist audience. It enables them to share their research findings in clear and concise language with the wider community. Meg works with Professor Marnie Blewitt and has received funding from PWRFA to work on PWS.

https://melbourne-cshe.unimelb.edu.au/events/3mt/video-archive/2021-grand-final

PWS Research Update - Held on 10 February 2021

Click here to see the recording of the webinar.

GUEST SPEAKERS:

A/Prof David GodlerAssociate Professor within the Department of Paediatrics, University of Melbourne, group leader of the Diagnosis and Development Laboratory at the Murdoch Children’s Research institute (MCRI)Topics: Australian First Chromosome 15 …

A/Prof David Godler

Associate Professor within the Department of Paediatrics, University of Melbourne, group leader of the Diagnosis and Development Laboratory at the Murdoch Children’s Research institute (MCRI)

Topics: Australian First Chromosome 15 Imprinting disorders Biobank: Aiming to Enhance Prader Willi Research and Clinical Practice

Read more…

Meg IminitoffPhD candidate - Professor Marnie Blewitt’s Laboratory at Walter and Eliza Hall Institute (WEHI)Topics: Investigating the epigenetic regulator SMCHD1 as a potential therapeutic target for the treatment of Prader-Willi SyndromeRead more…

Meg Iminitoff

PhD candidate - Professor Marnie Blewitt’s Laboratory at Walter and Eliza Hall Institute (WEHI)

Topics: Investigating the epigenetic regulator SMCHD1 as a potential therapeutic target for the treatment of Prader-Willi Syndrome

Read more…

Dr Lauren RiceResearch Fellow at the Brain and Mind Centre, University of Sydney and The Children’s Hospital Westmead Clinical SchoolTopic: Oxytocin, GABA and Mindfulness Projects UpdateRead More…

Dr Lauren Rice

Research Fellow at the Brain and Mind Centre, University of Sydney and The Children’s Hospital Westmead Clinical School

Topic: Oxytocin, GABA and Mindfulness Projects Update

Read More…

Cara SchofieldPhD candidate with Professor Nora Shields - School of Physiotherapy at La Trobe UniversityTopic: Investigating the barriers and facilitators to exercise for people with Prader-Willi syndrome throughout the lifespan.Read more…

Cara Schofield

PhD candidate with Professor Nora Shields - School of Physiotherapy at La Trobe University

Topic: Investigating the barriers and facilitators to exercise for people with Prader-Willi syndrome throughout the lifespan.

Read more…

Dr Charlene WaryahResearch Fellow, Cancer Epigenetics - Harry Perkins Institute of Medical ResearchTopic: Epigenome editing to re-activate silenced PWS genesRead more…

Dr Charlene Waryah

Research Fellow, Cancer Epigenetics - Harry Perkins Institute of Medical Research

Topic: Epigenome editing to re-activate silenced PWS genes

Read more…

Possible genetic triggers of autism symptoms and motor issues identified for several rare diseases

New research on the genetics of Prader-Willi and Angelman syndromes could help in developing personalised therapies for associated mental illness and autism features. Prader-Willi syndrome (PWS) and Angelman syndrome (AS) have few treatments for associated complications including autism spectrum disorder (ASD) and mental health issues such as psychosis.    

Murdoch Children’s Research Institute (MCRI) and University of Kansas Medical Center (KU Medical Center) experts have found that changes in expression levels of the UBE3A gene in white blood cells were associated with social and communication difficulties in PWS and impairment of fine motor and language skills in AS. The team now plan to investigate whether these changes are also seen in patients’ supporting brain cells, called glia. 

READ MORE

Professor Marnie Blewitt shares her work activating the Magel 2 gene cluster on Chromosome 15.

Hear Professor Marnie Blewitt from WEHI talk about her project to identify chemicals that activate one of the two major (silenced) PWS gene clusters, Magel2. A few years ago, Professor Blewitt stumbled across a chemical that silences an enzyme Schmd1 and as a consequence activates the Magel2 gene cluster i.e. a potential medicine for Prader-Willi.

Because she had previously been introduced to PWRFA, Marnie was interested in investigating whether her accidental discovery could be turned into a therapy for Prader-Willi. We initially seed funded her $25,000 to validate her finding and she has then taken her work on to proof of concept of a gene therapy and developed a first chemical candidate for a pharma company to develop into a drug. Pharma companies need more than one chemical candidate to successfully develop a drug, so Professor Blewitt’s work has now been fast-tracked to the National Drug Discovery Centre in the search for more compounds that will silence Schmd1 and activate the silent Magel2 gene cluster. There’s still a way to go and no guarantees but this world-leading research offers so much hope for a medicine for our children.


Complete the signup form here to secure your copy of the Webinar, held on 28 October 2020, with Professor Blewitt discussing her work.

We are proud to be awarded a Perpetual 2020 IMPACT Philanthropy grant

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We are proud to be awarded a Perpetual 2020 IMPACT Philanthropy grant funded by the Laurence G & Jean E Brown Charitable Trust, enabling the establishment of Australia’s first biobank for Prader-Willi syndrome, the Australian Chromosome 15 Biobank.

On behalf of families living with Prader-Willi syndrome in Australia and around the world, the team at the Prader-Willi Research Foundation Australia want to thank the Laurence G. & Jean E. Brown Charitable Trust for their  $65,500 grant to establish this biobank. It will create insight into how genetic changes link to physical, intellectual and behavioural challenges for people with PWS and potential therapeutic pathways.

Given the IMPACT grant has stiff competition from the best of Australian researchers, we are honoured to have been selected.

AUSTRALIAN FIRST CHROMOSOME 15 BIOBANK ANNOUNCED!

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MELBOURNE, AUSTRALIA 6 OCTOBER 2020

For the first time in Australia a purpose-built Biobank will be established to store tissue samples and clinical data for research into rare genetic diseases caused by changes to genes on Chromosome 15, including Prader-Willi Syndrome (PWS) and Angelman Syndrome (AS).

Prader-Willi Research Foundation Australia (PWRFA) founder and CEO Kathlene Jones announced the project today, in partnership with Associate Professor David Godler and Professor David Amor from the Murdoch Children’s Research Institute (MCRI) and the Royal Children’s Hospital (RCH), and Meagan Cross, Chairperson of Foundation for Angelman’s Syndrome Therapeutics (FAST).

“For the first time Australia will have a purpose-built biobank of biological samples from people with genetic diseases caused by changes to genes on Chromosome 15,” Ms Jones said today.

Download Full Media Release

Associate Professor Patricia Crock is the successful applicant for Prader-Willi Research Foundation of Australia's inaugural Newborn Experience grant

We are thrilled to announce that Associate Professor Patricia Crock is the successful applicant for Prader-Willi Research Foundation of Australia's inaugural Newborn Experience grant. 

The funded project will examine the effect of thyroxine on respiratory drive and sleep apnoea in infants aged 0-12 months with Prader-Willi Syndrome and possible central hypothyroidism. A Prof Crock will lead the project, which involves a team of 9 clinicians based in 5 hospitals around Australia (Newcastle, Qld, WA, and 2 in Sydney). This project will provide an evidence base around thyroxine therapy, which is essential to inform broader uptake by clinicians. Dr Crock is based at John Hunter Children's Hospital in Newcastle and collaborates widely with clinicians around Australia and internationally. 

Congratulations Dr Crock, we look forward to hearing the research results!

Meg Imintoff travels to Heidelberg in Germany to visit Professor Christian Schaaf's lab

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Meg Imintoff is the talented scientist working with Professor Marnie Blewitt, and dedicating her PhD to activating the Magel 2 gene cluster in Prader Willi syndrome.

PWRFA recently funded Meg to travel to Heidelberg in Germany to visit Professor Christian Schaaf's lab where she gained first-hand experience with new tools and techniques prior to bringing them back with her to the lab in Australia. These tools and techniques are central to the next stage of her gene activation project in the Blewitt lab. 

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When asked about her trip, Meg replied “I am incredibly grateful for the opportunity to visit Professor Schaaf’s lab in Heidelberg. My time in the lab was an amazing experience, where I was able to learn techniques and gain skills that will be very useful to my project going forward. I am excited to pick up here where I left off there and continue moving forward with my research.”

Meg, we are glad your trip was valuable and we look forward to hearing more in the time to come. Thank you again for choosing to invest your time and skills in unravelling the complexity of Prader Willi syndrome.

Prader Willi Research Foundation Australia funds PhD student Meg Iminitoff

We are delighted to fund PhD student Meg Iminitoff to travel to Professor Schaaf’s Lab in Europe this month to learn how to utilise human cells for epigenetics research.

This knowledge and training will be utilised in the up and coming FPWR funded project with Associate Professor Marnie Blewitt exploring the viability of activating the MAGEL2 gene. 

This important piece of work builds on the last 3 years of work understanding the relationship between the gene MAGEL2 and protein SMCHD1 by A Prof Marnie Blewitt, and is hopefully one of many collaborations between PWRFA and FPWR.

We wish Meg safe travels and look forward to hearing the research study results late in 2020.

Kathlene Jones announced as one of Westfield Southland’s Local Hereos 2019

Westfield Southland is granting $10,000 to Prader-Willi Research Foundation Australia to invest in research.

With this money, we are working on improved healthcare management for Prader-Willi syndrome. We are researching how to get better outcomes for our loved ones with PWS with an improved model of health care, including exploring opportunities for a whole of life clinic, providing national access to a PWS specialist doctor, an integrated care plan and connecting our doctors to international research. 

If we can improve health and wellbeing outcomes for our kids, we improve them for our families too. 

A huge thanks to Westfield Southland for the opportunity to raise awareness about Prader-Willi syndrome, and for the very generous grant. 

Visit Westfield Southland

Funds in Action

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.

The Foundation for Prader-Willi Research and Prader-Willi Research Foundation of Australia collaboration

The Foundation for Prader-Willi Research and the Prader-Willi Research Foundation of Australia announce their collaboration to support a new study evaluating the effects of exercise training for individuals with PWS.

The Foundation for Prader-Willi Research and the Prader-Willi Research Foundation Australia announce today their joint support of a new research project, led by Dr. Nora Shields of La Trobe University, evaluating the effects of exercise training in individuals with PWS.

Funding provided by the two organizations will provide top-up funding for a PhD scholarship from La Trobe University in Melbourne. The PhD scholar will join a team of researchers who have received funding from the Australian government, through the Medical Research Future Fund: Rare Cancers, Rare Diseases and Unmet Need program.

“People with PWS have smaller and weaker muscles which makes it difficult for them to do daily activities, to exercise and to control their weight.” Professor Shields said. “Exercise could help people with PWS build up their muscles, burn off extra calories and encourage them to become more active.”

In this study, Dr. Shields, a Professor of Physiotherapy, will oversee a 6-month exercise program and evaluate whether the program makes it easier for people with PWS to complete daily tasks and is cost-effective. 

“We’re excited to partner with the Prader-Willi Research Foundation of Australia to accelerate this important study.  Optimizing exercise in PWS is critical to helping individuals with PWS lead active, healthy and fulfilling lives”, said Theresa Strong, Director of Research Programs for the Foundation for Prader-Willi Research.

“PWRFA is sharply focused on improving life outcomes for people with PWS and their families and we are proud to be partnering with our international colleagues on this important study,” said Kathleen Jones, CEO of the Prader-Willi Research Foundation Australia.

Outcomes of this study will improve clinical care for people with PWS by making available online resources and best practice to help families, exercise professionals, and health agencies implement appropriate exercise training regimens for people with PWS. 

Professor Shields will collaborate with La Trobe colleagues Professor Nicholas Taylor, Professor Christine Bigby, and Associate Professor Luke Prendergast, as well as researchers from the University of Melbourne, the University of Sydney, and Deakin University.

Several hospitals around Australia will also take part in the trial.