The challenge

Rare diseases collectively affect around 400 million people worldwide, half of whom are children. Approximately 30% of children diagnosed with a rare disease die before their 5th birthday. More than 80% of rare diseases are genetic.¹ 

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Neuromuscular disorders are one group of rare diseases and are a diverse collection of hundreds of genetically distinct conditions that affect the nerves and muscles. The most common symptom is muscle weakness. While severity varies, many children experience significant disability and may require lifelong support with breathing, feeding or mobility.

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Although researchers have identified more than 700 genes linked to these conditions, more than half of people living with a neuromuscular disease still do not receive a genetic diagnosis after standard clinical testing. Without knowing the underlying cause, families are left without clear answers about their condition, future care or treatment options.

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Professor Gina Ravenscroft and her team at the Harry Perkins Institute of Medical Research (Perkins) are working to change this by uncovering previously unknown genetic causes of rare diseases and helping more families receive an accurate diagnosis.

The role of philanthropy

Hearts & Minds funding, as nominated by Magellan Investment Partners, has helped Perkins retain talented researchers and support the next generation of scientists through PhD scholarships, ensuring critical expertise remains focused on rare disease research.

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During 2025–26, the team identified four previously unknown neuromuscular disease genes and improved the interpretation of several other rare genetic conditions. Among these discoveries was a diagnosis for Valentina, a young girl in Sydney living with an ultra-rare condition, giving her family long-awaited answers.

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Hearts & Minds support has also contributed to the team's role in establishing the Rare Care Comprehensive Centre (RCCC) in Western Australia. Bringing together healthcare, research, education, disability and family support services, the Centre aims to provide more coordinated care for people living with rare diseases while accelerating research and future clinical advances. 

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As part of this initiative, Hearts & Minds support has also contributed to Professor Gina Ravenscroft’s appointment as the inaugural Dr Patricia Kailis Chair in Rare Diseases at the University of Western Australia, strengthening Australia's capacity to lead rare disease research for years to come.

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Early impact

To date, researchers at Perkins have identified more than 30 previously unknown disease genes and helped provide accurate genetic diagnoses to more than 1,000 patients and families. Each new diagnosis represents far more than a scientific discovery. It can guide medical care, inform future family planning, connect families with others facing the same condition and, increasingly, open the door to emerging precision medicine approaches.

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What this could unlock

The Perkins team is continuing to search for the genetic causes of rare neuromuscular diseases that remain unsolved. This includes identifying new disease genes, improving genetic diagnosis for patients and families, and building knowledge about how these conditions develop.

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The team is also continuing to build valuable research resources, including patient biobanks, and train the next generation of rare disease researchers. By sharing discoveries with researchers around the world, this work helps improve understanding, diagnosis and future care for people living with rare diseases.

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With continued philanthropic support, more families can receive timely answers, researchers can accelerate the search for new treatments, and Australia can continue to strengthen its role in rare disease research.

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Funding support from Hearts & Minds, as nominated by Magellan Investment Partners. This content was last updated in July 2026. For further information, visit Harry Perkins Institute of Medical Research.

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_{¹ Source: Gürkan, H. & Satkın, N. B. (2025). The Importance of Genetic Diagnosis in Rare Diseases. Balkan Medical Journal, 42(2), 92–93.}