Driving Change for Muscular Dystrophy

The Challenge

Neuromuscular conditions affect individuals from birth through adulthood, causing muscle weakness, loss of mobility, pain, and fatigue. These conditions vary in severity and onset, often leading to significant disability. In Australia, around 40,000 people live with a neuromuscular condition, including approximately 13,000 in New South Wales.

Hearts & Minds is proud to support two full-time postgraduate scholarships and one part-scholarship, providing financial support to young research talent. The ultimate goal is to develop new treatments and improve the lives of individuals affected by neuromuscular conditions. You can learn more about the Hearts & Minds Scholars and the projects they are leading below.

Project 1: Improving diagnosis of muscle disorders using advanced genetic testing

Scholar recipient: Dr Dennis Yeow

Diagnosing muscle disorders, including muscular dystrophy, can be a lengthy and complex process involving multiple tests over several years. Dr Yeow is developing a new genetic test using Oxford nanopore sequencing, an advanced technology capable of identifying all genetic changes related to these disorders in a single step.

This approach aims to:

• Provide faster, more accurate diagnoses, reducing stress and costs for patients.
• Enable earlier access to appropriate treatments.
• Resolve diagnostic uncertainty for previously unsolved cases, offering patients disease-specific prognostic information, genetic counselling, reproductive risk insights, and management options.

Project outcomes: The project is investigating whether long-read sequencing can improve diagnostic rates and turnaround times compared to standard methods, potentially providing more timely and accurate diagnoses for patients.

Project 2: Studying fatigue in children with Charcot-Marie-Tooth disease‍

Scholar recipient: Miss Monica Marzouk

Fatigue is a major issue for children and teenagers with Charcot-Marie-Tooth disease (CMT), a common inherited nerve disorder causing muscle weakness and sensory loss. Miss Marzouk is taking preliminary steps to develop the CMT Fatigue Scale (CMT-FaS), a tool designed specifically to measure fatigue in paediatric CMT patients.

The project involves four key components:

1. Systematic review – examining how fatigue is measured across all paediatric neuromuscular diseases.
2. Cross-sectional study – determining the prevalence and Impact of fatigue in children with CMT.
3. Longitudinal study – tracking how fatigue prevalence and impact change throughout childhood.
4. Interview study – capturing the lived experiences of children with CMT.

Project outcomes: The project is designed to understand CMT specific fatigue across childhood years. It is an essential step to developing the CMT-FaS for measuring fatigue to provide a foundation for better monitoring and future clinical trials.

Project 3: Improving care for adults with Motor Neuron Diseases

Scholar recipient: Dr Aicee Calma

Adults with neurodegenerative conditions such as Spinal Muscular Atrophy (SMA) and Motor Neuron Disease (MND) require better ways to monitor disease progression and treatment response. Dr Calma’s study follows patients over 18 months, using clinical and electrical tests to track changes in their condition.

The research aims to:

• Identify clinical and electrical markers that predict disease progression.
• Improve understanding of disease trajectories, severity, and complications.
• Guide patient care and optimise treatment strategies for adults living with SMA and MND.

Project outcomes: The study is exploring whether specific clinical and electrical markers can indicate disease progression, potentially helping clinicians better monitor and manage treatment for adults with SMA and MND.

Measuring Impact

Hearts & Minds measures its impact against six core categories as developed by the Association of Australian Medical Research Institutes. These scholarship-supported projects deliver impact across the following indicators: building research capacity through the support of early-career researchers, improving patient health outcomes via faster diagnoses, better symptom management, and more informed care, ultimately enhancing quality of life for individuals affected by neuromuscular conditions.

Through these scholarships, we are proud to empower emerging research talent and drive meaningful advances in neuromuscular health. These projects are expanding scientific knowledge while translating discoveries into real-world benefits for patients — from faster diagnoses and targeted treatments to tools that enhance daily life and care.

‍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 Muscular Dystrophy NSW.

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