Ironman for Lucy: Matt’s Mission for Prader-Willi Syndrome

Some challenges in life are chosen, while others are handed to us. For Matt, tackling an Ironman isn’t just about pushing his limits; it’s about making a difference for his little sister Lucy, who has Prader-Willi syndrome (PWS).

"Half of me is quite excited, and the other half is nervous, I signed up at the start of the year to challenge myself—it’s been a while since I’ve done competitive sport. But putting all these disciplines together—swimming, cycling, running—this is something I’ve never done before"

What started as a personal goal soon became something much bigger. When Matt committed to the gruelling event, he realized he could also use the opportunity to raise awareness and funds for Prader-Willi syndrome research.

Why Raise Awareness?

For Matt, the decision to dedicate his Ironman to Lucy and others living with PWS was simple.

1. "It’s extra motivation." The thought of Lucy keeps him going on tough training days.

2. "I wanted to help out." As a family, Matt has seen the incredible impact of the Prader-Willi Research Foundation Australia for his family

3. "This is my chance to play my part."

With a fundraising target of $20,000 that has already been reached, Matt is making an impact. "Not many people know what PWS is or how it affects people and their families. I want to change that," he explained.

Understanding Prader-Willi Syndrome, what Matt wants people to know,

For Lucy, the past year has been particularly challenging. "Her symptoms have become more exaggerated, and as a family, we’re still learning how to navigate it. It’s an ever-evolving condition—not something limited to childhood," Matt explains.

While PWS might show up in a medical definition, the reality is far more nuanced. "It’s so hard to convey to others what it’s like. No two people experience it the same way, and the challenges keep shifting over time," he says.

Still, for Matt and his family, every small step forward makes a big difference. "Anything that improves quality of life, even just a little, is awesome. That’s why I’m doing this."

Matt’s Message

For those who’ve followed his journey, Matt hopes his Ironman inspires others to take an interest in PWS and how they can help. Whether it’s supporting research or simply learning about the syndrome, Matt believes raising awareness is crucial.

"Lucy is my biggest inspiration for this race," he says. "She’s the reason I’ll cross that finish line, no matter how long it takes."

So as the Ironman day looms, Matt’s focus is clear: "It’s coming around quicker than I expected, but I’m ready. It’s all about finishing."

Join Matt in his mission by supporting his fundraiser or simply spreading the word about PWS. Together, we can help families like Matt’s navigate the complexities of this rare condition and improve lives—one step (or Ironman) at a time.

On December 1st, Matt is taking part in the WA Ironman over in Busselton. A casual Sunday involving a 3.8km swim, 180km ride and 42.2km run.

Visit: https://personalchallenge.gofundraise.com.au/page/Matt-12217337 to donate

What does PWRFA mean to you featuring A/Prof David Godler

We recently had the honor of chatting with A/Prof David Godler about what inspired his journey into the field of PWS research and what PWRFA means to him. We are humbled he acknowledged the pivotal role PWRFA and our founder Kathlene Jones in igniting his interest in PWS. After 8 years working within the field, the friendships formed within our community and their stories serve as a constant source of inspiration.  His current work utilizes the Australian chromosome 15 imprinting disorders biobank which he established and partially funded by our family donors. This is one of the many achievements he lists   about his work with PWS.  

  • What project are you currently working on?  

My group works on several projects using different state of the art genomic technologies, tissues and clinical information from the NICHD Brain and Tissue Bank for Developmental Disorders at the University of Maryland in the US and our Australian chromosome 15 imprinting disorders biobank.   

These projects aim to provide: 

1) new knowledge about changes in genes and proteins most affected in different types of cells in the brain and blood of people affected with Prader-Willi syndrome (PWS) and how they contribute to the severity of the disorder, including serious mental illness. This will enable evidence-based choices around the best targeted treatments and supports.  

2) a list of genes and proteins which can be analysed to predict who is most at risk of developing specific features of PWS and for interventions that could improve quality of life for the affected individuals and their families. 

We also aim to use this information to identify existing medications used for other conditions to target biological processes most affected in PWS in future clinical trials. 

Together this knowledge will enable us to address a number of pressing needs for people with PWS, their families and clinicians caring for them.  

This research would not be possible without an extensive team of local and international expert collaborators, including Prof Merlin Butler and Dr Olivia Veatch from the University of Kansas Medical Centre (US), Prof Katrina Williams (Monash University), Prof David Amor and A/Prof Mirana Ramialison (MCRI), Dr Quang Bui (University of Melbourne) and Prof Anthony Hannan (Florey Institute of Neuroscience and Mental Health). 

  • What have you achieved since you started working on PWS? 

I started working on PWS in 2016 not long after meeting Kathlene just prior to PWRFA being established. Since then, we have established Australia’s first chromosome 15 imprinting disorders biobank, developed a new newborn screening approach now being trialled in Australia and the US to identify infants with PWS (and other conditions), gained new knowledge on health economics of PWS in Australia, explored the biology underlying autism symptoms in Australian patients with PWS, developed new methods to analyse changes in thousands of genes in different types of cells that may contributed to different features of PWS at different ages.   

  • What inspired your work into PWS?  

Meeting Kathlene in 2016, and that 1st PWRFA conference at University of Melbourne was part of it. Meeting and forming friendships with the families and getting to understand their stories was another major factor. I get Christmas cards with photos of children with PWS sent to me each year. These photos are in my office in the most visible place. When the going gets tough, looking at them drives me and gives me the reason to do what I do.        

  • What does PWRFA mean/done for you? 

In collaboration with PWRFA we have developed and will keep developing the Australian first chromosome 15 imprinting disorders biobank. It is now being used to help us to better understand how changes to genes and proteins cause the variability in severity of physical, intellectual and behavioural challenges that people with PWS experience. Our research focuses on why sub-groups of people with PWS have higher incidence rates of autism-like behaviours and mental health issues, and how these can be more effectively treated. These data are being analysed using advanced AI software to identify new biological pathways affected in PWS, that would be used to develop new treatments or repurpose existing drugs. This biobank is also available to other researchers and industry, maximising the benefit of sample collections from people with PWS. 

Thank you, A/Prof David Godler, for sharing your passion for PWS research. We can’t wait to hear you present at our upcoming conference in August.  

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.