Developing functional systems biology approaches to complement diagnosis of mitochondrial disease
Scholar: Daniella Hock
Mitochondrial disease occurs when the mitochondria – the power plants of cells – fail to produce enough energy for cell…
Viral infection in mitochondrial disease
Researcher: Dr Tara Richman
Dysfunctional mitochondria cause a diverse group of multi-system human pathologies that often result in severe, progressive and lethal diseases for…
Pathogenesis Associated with Dysfunctional Mitochondrial Protein Import
Scholar: Thomas Jackson
Understanding how mitochondria work is the key to finding treatments and cures for the many types of mitochondrial diseases (mito).…
Regulation of one carbon metabolism in Sengers syndrome
Researcher: Diana Stojanovski
Mitochondrial diseases are a major health burden with a prevalence rate of at least 1 in 5,000. These devastating diseases…
Functional Genomics in Gene Discovery and Clinical Practice
Researcher: Professor David Thorburn
This project will focus on improving translation of genomics into optimal clinical practice by addressing the following issues: Improved genomic…
Evaluating the cost-effectiveness of whole genome sequencing for the diagnosis of mitochondrial disease
Researcher: Dr Deborah Schofield
It is anticipated that this research will increase accessibility to early intervention, and completely transform the way mito is treated.…
Utility of FGF21 and GDF15 as Diagnostic and Prognostic Biomarkers
Mitochondrial respiratory chain disorders (MRCD) are a group of disorders often causing multi-system disease. Diagnosis is often difficult and requires…
Could Stem Cell-Derived Tissue Cultures Replace Animal Models
Researcher: Dr Vijay Rajagopal
Mitochondrial disease patients present a wide range of symptoms and across different organ systems that make it difficult to diagnose…
Building a National Clinical Database
Researcher: Professor Carolyn Sue
The lack of knowledge about mitochondrial disease (mito) means that it is extremely difficult to assess the effectiveness of treatments…