Rare Diseases

Neuromuscular disorders include many rare conditions, such as Duchenne Muscular Dystrophy and Spinal Muscular Atrophy, that adversely impact respiratory health.

Despite advances in treatment for these conditions over the years, death usually occurs from respiratory failure. As there is a shortage of evidence in children to guide respiratory management, we are investigating the trajectory of lung disease in children with neuromuscular disorders in order to inform the development of clinical protocols and management guidelines in this vulnerable group. We collaborate with international centres such as Stanford University and have strong partnerships with the Muscular Dystrophy Association of Western Australia and with the broader neuromuscular community through our consumer reference group.

Childhood interstitial lung disease (chILD) is a rare group of diseases that can be challenging to diagnose and even more challenging to treat. These diseases range in severity, with some being fatal, yet specific treatments are generally not available. Our teams have joined a global network of researchers and clinicians in the search for new treatments for chILD, using our expertise in cell biology and stem cell technology to contribute to the discovery pipeline.