A patient-derived motor platform for diagnostics and drug discovery in neuromuscular diseases : a dissertation presented in fulfilment of the requirements for the degree of Doctor of Philosophy in Biochemistry, Massey University, Manawatū, New Zealand. EMBARGOED to 7 May 2027.

Abstract

This research developed patient-derived multicellular disease models to advance diagnosis and drug discovery for neuromuscular and neurodegenerative diseases, such as malignant hyperthermia and motor neurone disease. A biobank of stem cells reprogrammed from patients facilitated the creation of “mini organoids” that replicate disease features. A muscle-on-chip platform utilised a microfluidic system for precise drug delivery, demonstrating potential to replace invasive diagnostics, and in ALS models, a novel repurposed drug effectively reduced key disease markers. The outcome is a scalable, patient-specific platform designed to enhance disease understanding, improve diagnostics, and expedite therapies for incurable and complex diseases.