Search
Research
Precision HealthListed are The Kids Research Institute Australia research teams involved in our Genetics and Rare Diseases Program. This program sits under the Chronic and Severe Diseases research theme.
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.
Research
Mitochondrial Gene TherapyAleksandra Filipovska BSc PhD Louis Landau Chair in Child Health Research; NHMRC Leadership Fellow; Deputy Director, ARC Centre of Excellence for
News & Events
Ideas Grants to support innovative researchTwo research teams, led by The Kids Research Institute Australia, have been awarded more than $2 million to fund innovative projects.
News & Events
Researchers uncover the hidden wonder of cellsResearchers from The Kids Research Institute Australia and The University of Western Australia have developed a new technique to see inside cells with unprecedented detail, revealing a complicated web of interactions that provides new insights into how cells stay healthy.
Research
In silico evolution of nucleic acid-binding proteins from a nonfunctional scaffoldDirected evolution emulates the process of natural selection to produce proteins with improved or altered functions. These approaches have proven to be very powerful but are technically challenging and particularly time and resource intensive. To bypass these limitations, we constructed a system to perform the entire process of directed evolution in silico.
Research
Mitochondrial gene expression is required for platelet function and blood clottingPlatelets are anucleate blood cells that contain mitochondria and regulate blood clotting in response to injury. Mitochondria contain their own gene expression machinery that relies on nuclear-encoded factors for the biogenesis of the oxidative phosphorylation system to produce energy required for thrombosis.
Research
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiencyWe aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency.
Research
Control of mitophagy initiation and progression by the TBK1 adaptors NAP1 and SINTBADMitophagy preserves overall mitochondrial fitness by selectively targeting damaged mitochondria for degradation. The regulatory mechanisms that prevent PTEN-induced putative kinase 1 (PINK1) and E3 ubiquitin ligase Parkin (PINK1/Parkin)-dependent mitophagy and other selective autophagy pathways from overreacting while ensuring swift progression once initiated are largely elusive.
Research
Systems biology of mitochondrial diseasesInvestigators: Professor Aleksandra Filipovska, Dr Stefan Siira Project description This project will focus on new and cutting-edge development of