Graduate Research Degree Awarded - Rocio Rius

Congratulations to Rocio Rius - Graduate Research Degree Awarded 18 January 2021.

Degree: PhD
Supervisors: Prof John Christodoulou (Principal), Dr Nicole van Bergen, Prof David Thorburn, Dr Alison Compton

Advisory Committee: A/Prof Shireen Lamande (Chair), A/Prof Tiong Tan
Thesis Title: Advancing the diagnosis of mitochondrial diseases with genomic sequencing
Thesis SummaryThe aim of this thesis is to assess the utility of genome sequencing (GS) in the diagnosis of mitochondrial diseases. Patients with suspected mitochondrial disease from retrospective and prospective cohorts were analysed through trio or singleton GS. GS identified causative single nucleotide and copy number variants in both nDNA and mtDNA. Functional studies were performed to confirm pathogenicity of novel variants in known and novel disease genes. This study highlights the effectiveness of GS in the diagnosis of mitochondrial diseases.

Date awarded: 18 January 2021