Challenge
Rare diseases affect millions worldwide, yet 95% still lack approved treatments. Developing new therapies is slow, costly, and risky: it can take 10–15 years and over $1 billion per drug, with 90% of candidates failing in early trials. One key challenge is that preclinical models often do not accurately reflect human disease. This project aims to create patient-centric cell and animal models that faithfully replicate disease biology, enabling safer and more effective testing of novel treatments.
Project overview
This project focuses on rare genetic muscle diseases, which are diverse conditions often causing progressive muscle weakness. By developing robust laboratory models that reflect patient biology, researchers can test new therapies safely and predict clinical outcomes more reliably. The project targets two main areas:
- Designing and testing new treatments
- Developing and refining cell and animal models
Key highlights in the past year
- Adoption of cutting-edge tools: Dr Joshua Clayton trained in the USA on Mantarray technology to create 3D engineered muscle tissues (EMTs) from patient cells. He was able to generate more than 160 EMTs, proving the technology’s potential for large-scale disease modelling and therapy testing. In early 2025, Hearts and Minds Investments and The Children’s Health and Disability Foundation WA co-funded the team’s purchase of their own Mantarray.
- Community-driven research: Patients living with RYR1 mutations directly inform the team’s approach, ensuring the research reflects real-world needs and experiences.
- First-of-its-kind success in genetic therapy: PhD candidate Jordan Crane achieved the team’s first successful allele-selective knock-down of toxic RYR1 RNA in patient myotubes — potentially a world first.
- Breakthrough in muscle cell transplantation: PhD candidate Darcy Pirotta transplanted myogenic progenitor cells with a bioluminescent reporter gene into a neonatal mouse hindlimb. Bioluminescent signals detected eight weeks later confirmed cell survival, marking a key step toward new therapies. Further analysis ongoing.
Measuring Impact
Hearts & Minds measures its impact across six core categories as developed by the Association of Australian Medical Research Institutes. Key highlights include:
Advancing Knowledge
- Peer-reviewed publication: Published research on ACTA1 gene variants.
- Global sharing: Delivered oral presentations at various conferences worldwide
Research Capacity Building
The Harry Perkins team has diverse leadership and emerging talent:
- Diverse team: Led by Dr Rhonda Taylor and Professor Gina Ravenscroft, the research team includes postdoctoral researchers, PhD candidates and research assistants.
- Fellowship awarded: Dr Joshua Clayton awarded the Safe Harbour Fellowship (2025–2027) for his ongoing Mantarray research.
- Student achievements: PhD candidate Jordan Crane gained international recognition, winning the poster prize at the World Muscle Society Meeting.
Health Impacts
- Better technology: The Mantarray instrument allows creation of realistic 3D muscle models from human cells, giving researchers the ability to study disease processes and test therapies at an unprecedented level of detail.
- Direct diagnostic benefits: To date, the team has identified over 25 new disease genes and delivered thousands of genetic diagnoses to families.
Economic Impacts
- Leveraging funding: Support from multiple organisations allowed acquisition of advanced equipment and expansion of research capacity.
- Building capability: Overseas training in new technologies has equipped the team with unique skills, reducing the need for costly external collaborations in future studies.
Informing Decisions
- Improved diagnostic pathways: Gene discoveries and structural variant identification contribute to more accurate and timely diagnoses for families with rare neuromuscular diseases.
- Patient involvement: Input from RYR1 research buddies has shaped the research approach, ensuring alignment with patient priorities and lived experience.
“I have been impressed and thankful to the research team for their genuine interest and feedback about my lived experience to better inform the research, it is so encouraging to watch how the research team considers and responds to information I am able to provide.
Most significantly for me, I am excited for the potential impact this research could have for future generations impacted by RYR1 mutations. Having a rare disease that has no treatment options has at times felt isolating and disempowering. I am so excited that as a result of this and other ongoing research, future generations may have treatment options available to them that lessen or entirely remove the functional impact of the RYR1 mutation on their muscle weakness and lives”. – an RYR1 research buddy
Each new diagnosis not only changes lives today but also lays the groundwork for tomorrow’s treatments.
Funding support from Hearts and Minds Investments, as nominated by Core Fund Manager, Magellan.
This content was last updated in August 2025, for further information visit Harry Perkins.
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