Iron, ferroptosis and the biology of ageing. This project aims to determine how and when regulation of iron is lost. Failing iron metabolism during life may dictate the rate of ageing by driving a newly discovered cell death program. Combining biology, chemistry and physics, this collaborative project aims to transform the understanding of the fundamental mechanisms of biological ageing. Anticipated outcomes include new assays for measuring iron in biology and identification of potential pathway ....Iron, ferroptosis and the biology of ageing. This project aims to determine how and when regulation of iron is lost. Failing iron metabolism during life may dictate the rate of ageing by driving a newly discovered cell death program. Combining biology, chemistry and physics, this collaborative project aims to transform the understanding of the fundamental mechanisms of biological ageing. Anticipated outcomes include new assays for measuring iron in biology and identification of potential pathways that regulate death signaling and lifespan. Outcomes will benefit life sciences and biotechnology industries.Read moreRead less
Understanding The Pathogenesis Of Mitochondrial Disease Using IPS Cells
Funder
National Health and Medical Research Council
Funding Amount
$640,372.00
Summary
Induced pluripotent stem (iPS) cells are stem cells derived from adult skin cells that can be converted into cell types such as neurons. iPS cells offer great promise in understanding and treating inherited disorders. However, there are concerns that the “epigenetic memory” of iPS cells has not been completely erased, which may limit the utility of iPS cells. We will evaluate and validate the use of iPS technology in mouse and human models of inherited disorders affecting energy generation.
Investigating novel pathways in ferroptosis. This project aims to develop new tools to investigate iron-mediated cell death and uncover new pathways involved in ageing. Accumulation of iron leads to frailty in late life, a process that appears common to all animals. Iron becomes reactive and inappropriately triggers a cell death process called ferroptosis leading to dysfunction. To understand these processes and to identify means to intervene, this project aims to use genetic approaches to ident ....Investigating novel pathways in ferroptosis. This project aims to develop new tools to investigate iron-mediated cell death and uncover new pathways involved in ageing. Accumulation of iron leads to frailty in late life, a process that appears common to all animals. Iron becomes reactive and inappropriately triggers a cell death process called ferroptosis leading to dysfunction. To understand these processes and to identify means to intervene, this project aims to use genetic approaches to identify new cell pathways that regulate ferroptosis. This project also aims to develop new tools to study this process. Outcomes of this project may include the identification of potential strategies to alter late life frailty with an expected benefit to life sciences and biotechnology industries.Read moreRead less
The role of dysregulated signalling by TORC1 in mitochondrial disease. The mitochondria are tiny subcellular compartments responsible for producing over 90 per cent of the cell's energy. Mitochondrial defects feature both in genetic diseases that directly affect the mitochondria and in most neurodegenerative diseases. These incurable diseases are expected to eclipse cancer as the second major cause of death worldwide by 2040. Using a simple model organism, Dictyostelium, previous research showed ....The role of dysregulated signalling by TORC1 in mitochondrial disease. The mitochondria are tiny subcellular compartments responsible for producing over 90 per cent of the cell's energy. Mitochondrial defects feature both in genetic diseases that directly affect the mitochondria and in most neurodegenerative diseases. These incurable diseases are expected to eclipse cancer as the second major cause of death worldwide by 2040. Using a simple model organism, Dictyostelium, previous research showed that dysregulated intracellular signalling by a cellular energy-sensing alarm protein is responsible for diverse cellular pathologies in mitochondrially diseased cells. This project will determine the role in these pathways of a second cellular stress-sensing protein complex, TORC1. New treatment possibilities may emerge.Read moreRead less
Novel Fragile X Syndrome Prevalence Estimates In 100,000 Australian Newborns, Prognostic And Health-economic Outcomes: A Retrospective Newborn Screening Study
Funder
National Health and Medical Research Council
Funding Amount
$769,866.00
Summary
Fragile X syndrome (FXS) is a common heritable cause of intellectual disability and co-morbid autism, caused by epigenetic silencing of the FMR1 gene. This will be the world’s largest FXS mutation prevalence study conducted in 100,000 newborns using a novel test targeting epigenetic changes, and will also explore the prognostic outcomes, costs and benefits associated with FXS newborn screening, providing conclusions regarding expanding the current newborn screening in Australia to include FXS.