Graduate Research Degree Awarded - Megan Ball

Congratulations to Megan Ball - Doctor of Philosophy Awarded 15 September 2026

Degree: Doctor of Philosophy

Supervisors: Prof David Thorburn, Prof John Christodoulou,  Dr Alison Compton

Advisory Committee: Prof David Amor,  Dr Michelle de Silva

Thesis Title: Improving the diagnostic pathway for children suspected of mitochondrial disease

Thesis Summary:

This thesis examines how the integration of genomic sequencing and multi-omic technologies can improve the diagnosis of mitochondrial disease across different clinical settings. Using three complementary cohorts, including publicly funded genome sequencing in outpatients, ultra-rapid genomic sequencing in intensive care, and multi-omic investigation of unresolved cases, it demonstrates the diagnostic value of genome sequencing as the first-line test for suspected mitochondrial disease. It also highlights the need for sustainable and equitable integration of genomics and multi-omics into routine clinical practice.

Date awarded: 15 September 2026