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Developing new models of mitochondrial diseases using CRISPR/Cas technologies

Aleksandra Filipovska FAA, FAHMS BSc PhD Louis Landau Chair in Child Health Research; NHMRC Leadership Fellow; Deputy Director, ARC Centre of

Systems biology of mitochondrial diseases

Investigators: Professor Aleksandra Filipovska, Dr Stefan Siira Project description This project will focus on new and cutting-edge development of

Mitochondrial Medicine and Biology

Mitochondrial diseases are devastating disorders for which there are no cures or effective treatments. Our project will focus on the prevention of mitochondrial diseases and discovery of effective cures.

Estimating the potential malaria morbidity and mortality avertable by the US President's Malaria Initiative in 2025: a geospatial modelling analysis

Since its inception in 2005, the US President's Malaria Initiative (PMI) has played a major role in the reductions in malaria morbidity and mortality observed across Africa. With the status of PMI funding and operations currently uncertain, we aimed to quantify the impact that a fully functioning PMI would have on malaria cases and deaths in Africa during 2025. 

Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease

Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays.

Quantitative subcellular reconstruction reveals a lipid mediated inter-organelle biogenesis network

The structures and functions of organelles in cells depend on each other but have not been systematically explored. We established stable knockout cell lines of peroxisomal, Golgi and endoplasmic reticulum genes identified in a whole-genome CRISPR knockout screen for inducers of mitochondrial biogenesis stress, showing that defects in peroxisome, Golgi and endoplasmic reticulum metabolism disrupt mitochondrial structure and function. 

ATFS-1 counteracts mitochondrial DNA damage by promoting repair over transcription

The ability to balance conflicting functional demands is critical for ensuring organismal survival. The transcription and repair of the mitochondrial genome requires separate enzymatic activities that can sterically compete, suggesting a life-long trade-off between these two processes.

Engineering new tools to improve energy metabolism

Aleksandra Filipovska FAA, FAHMS BSc PhD Louis Landau Chair in Child Health Research; NHMRC Leadership Fellow; Deputy Director, ARC Centre of

Mitochondrial Gene Therapy

Aleksandra Filipovska FAA, FAHMS BSc PhD Louis Landau Chair in Child Health Research; NHMRC Leadership Fellow; Deputy Director, ARC Centre of

The mitophagy receptors BNIP3 and NIX mediate tight attachment and expansion of the isolation membrane to mitochondria

BNIP3 and NIX are the main receptors for mitophagy, but their mechanisms of action remain elusive. Here, we used correlative light EM (CLEM) and electron tomography to reveal the tight attachment of isolation membranes (IMs) to mitochondrial protrusions, often connected with ER via thin tubular and/or linear structures.