Accelerating Genetic Breakthroughs for Rare Neuromuscular Disorders

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The Harry Perkins Institute of Medical Research (Perkins) is advancing understanding of rare neuromuscular diseases through cutting-edge research, innovative technologies, and strong patient engagement. Their work spans gene discovery, diagnostic improvements, and the development of new therapies, with a focus on translating scientific breakthroughs into real-world health impacts.

The Challenge

Rare diseases collectively affect around 400 million people worldwide, half of them children. More than 80% are genetic, and sadly, about 30% of affected children die before their fifth birthday. Neuromuscular disorders comprise hundreds of rare conditions that affect nerves and muscles, causing symptoms from mild weakness to severe disability. Many children require lifelong support, such as assisted breathing or mobility aids.

Despite more than 700 genes being linked to these diseases, standard clinical testing leaves over half of patients without a diagnosis. Without answers, families face uncertainty, limited treatment options, and difficulty connecting with others facing similar challenges.

The Perkins team is recognised as a world leader in this field. To date, they have identified over 25 new disease genes and delivered thousands of genetic diagnoses to families. Their goal is clear: ensure every family receives a timely and accurate diagnosis, opening the door to better treatment, research, and hope.

Project Overview 

The team’s research focuses on:

• Gene discovery: Identifying new genes and structural variants causing rare neuromuscular diseases
• Timely diagnosis: Providing genetic results to patients and families
• Global sharing: Contributing to national and international genetic databases
• Muscle biology research: Understanding nerve and skeletal muscle development
• Biobanking: Preserving patient samples and cell lines for future studies
• Capacity building: Mentoring the next generation of scientists in rare disease genomics

Key highlights in the past year

• Discovery of six new disease genes (2024): These breakthroughs span rare conditions affecting muscles from birth to adulthood, sensory neuropathies, and neurodevelopmental disorders. Each discovery provides families with a definitive genetic diagnosis, opening the door to tailored care and participation in clinical trials.
• Novel rigid spine myopathy discovery (2025): PhD candidate Lein Dofash identified a new genetic cause of rigid spine syndrome. The team is collaborating with a US start-up producing mevalonic acid and clinical partners, including at the NIH, to explore precision medicine trials for patients with disorders in this pathway.
• Discovery of JPH1-related congenital myopathy: Dr Mridul Johari and Associate Professor Gina Ravenscroft identified that loss-of-function variants in the JPH1 gene cause a rare, debilitating form of congenital myopathy, primarily affecting the facial and eye muscles.
• Pioneering diagnostic technology: The NATA-accredited diagnostic tool now screens over 70 Australasian patients with Facioscapulohumeral muscular dystrophy, enabling more accurate diagnoses and access to emerging therapies.
• First gene panel for infertility and pregnancy loss: PhD candidate Jasmine Chew curated the first gene panel (worldwide) for unexplained infertility and recurrent pregnancy loss.
• Cutting-edge 3D muscle disease modeling: Hearts & Minds Investments co-funded the Mantarray instrument, allowing the team to generate realistic engineered muscle tissues in-house, enabling precise study of disease mechanisms and testing of potential therapies.
• Investing in the next generation of scientists: PhD student Carolin Scriba graduated, and new talent continues to join the team, ensuring ongoing innovation in rare disease genomics and long-term research capacity.

Media and Coverage:

• HMGCS1-related myopathy breakthrough – West Australian News
• JPH1-related myopathy discovery – Harry Perkins Institute
• NATA accreditation for FSHD diagnostic tool – Harry Perkins Institute

The team’s research is delivering real-world outcomes: new gene discoveries are giving families definitive diagnoses, access to clinical trials, and hope for targeted therapies. The team is excelling in advancing knowledge through publications, conferences, awards and media engagement, with new groundbreaking technology, and in building research capacity by training the next generation of scientists. 

Hearts & Minds is also supporting a second project at Harry Perkin’s, developing patient-centric models and treatments for neuromuscular disorders, which further enables the team’s research goals. You can learn more about the exciting highlights of this project here.

‍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.