Graduate Research Degree Awarded - Yau Chung Low

Congratulations to Yau Chung Low - Graduate Research Degree Awarded 24 July 2024

Degree: PhD
Supervisors: Dr Ann Frazier (Principal), Prof David Thorburn
Advisory Committee: Prof Paul Lockhart (Chair), Prof Enzo Porrello

Thesis Title: Human pluripotent stem cell models of the mitochondrial cardiomyopathy disease genes AGK (Sengers syndrome) and TAFAZZIN (Barth syndrome)

Thesis Summary: 

This project focuses on Sengers syndrome and Barth syndrome, both of which are mitochondrial diseases characterised by a range of symptoms including potentially fatal cardiomyopathy. Novel 2D- and 3D-cardiac disease models of Sengers syndrome and Barth Syndrome were generated from CRISPR/Cas9 gene edited human pluripotent stem cells. These disease models were used for further investigation of disease mechanisms and to establish platforms for therapeutic testing. Ultimately, the advances made in this project will be used to facilitate future pre-clinical treatment studies for Sengers syndrome and Barth syndrome, and could be used to investigate other mitochondrial diseases causing cardiomyopathy.

Date awarded: 24 July 2024