Beyond the Exome
Researcher: Professor David Thorburn
New genomic technologies are transforming diagnosis of mitochondrial disease (mito) and other inherited diseases but perhaps half of all children…
Functionalism of mitochondrial Complex I accessory subunits
Scholar: Marris Dibley
Marris Dibley is exploring what can go wrong inside the tiny machinery of the mitochondria. Marris is a PhD candidate…
Functionalisation of mitochondrial Complex I accessory subunits in health and disease
Scholar: Marris Dibley
Mitochondrial complex I is the largest of the five enzymes which combine to perform oxidative phosphorylation, the primary source of…
Impaired gene expression causes mitochondrial disease
Scholar: Kara Perks
Did you know that our cells actually switch genes on and off at certain times, depending on input from their…
Neuropathogenic mechanisms of mitochondrial dysfunction
Scholar: Sophia Frentz
Existing treatments for mitochondrial disease (mito) only alleviate symptoms rather than addressing their underlying cause. Scientists like Sophia Frentz are working…
Global Metabolic Profiling of Mitochondrial Diseases
Researcher: Dr Anthony Dona
Dr Anthony Dona works in the field of metabolic profiling at the University of Sydney’s Kolling Institute of Medical Research.…
Drug Screening to Rescue OXPHOS Defective Cells
Researcher: Professor Mike Ryan
Professor Mike Ryan is leading a project to discover compounds that can treat mitochondrial disease (mito). He is the head…
Determining the genetic basis of Leigh Syndrome
Scholar: Nicole Lake
The most common childhood mitochondrial disease presentation is Leigh syndrome, which is a progressive neurodegenerative disease with an onset that…
Identification of novel pathogenic mutations in genes causing inborn errors of metabolism
Scholar: Michael Nafisinia
There are over 1,500 genes involved in the normal functioning of the mitochondria. So far, only about 250 genes have…
Stem cell model of Leber’s Hereditary Optic Neuropathy
Researcher: Dr Raymond Wong
Dr Wong received funding from the Mito Foundation to research a treatment for Leber’s Hereditary Optic Neuropathy (LHON), one of…