Mechanisms Of Premature Cranial Fusion: Role Of Retinol Binding Protein 4 In Osteogenesis And Suture Fusion
Funder
National Health and Medical Research Council
Funding Amount
$555,855.00
Summary
Craniosynostosis is a condition where the skull bones fuse prematurely, affecting skull shape, vision and cognition. It occurs in 1 in 2,500 births. The only treatment is surgery, which is life-threatening, costly and may need to be repeated. By studying how fusion happens in this project we may be able to devise therapies to minimize the risks and need for re-operation. Here, we hope to show that modification of a single substance in the skull of mouse models can prevent premature bone fusion.
Histone Demethylase KDM6A Is A Novel Target For Treating Craniosynostosis In Children With Saethre-Chotzen Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$548,854.00
Summary
Children with Saethre-Chotzen syndrome exhibit premature fused coronal sutures, and other skull/ skeletal malformations. Surgical intervention is the only treatment option to ensure optimal cognitive and skeletal development. Our studies have identified a candidate molecular pathway that regulates bone formation by cranial bone cells from these patients. Targeting this key molecular regulator with chemical inhibitors will help prevent the premature fusion of cranial sutures.
Tyrosine Kinase Receptor C-ros-oncogene 1 Mediates Twist-1 Haploinsufficiency Induced Craniosynostosis In Children: A Novel Therapeutic Target
Funder
National Health and Medical Research Council
Funding Amount
$562,863.00
Summary
Children with Saethre-Chotzen syndrome exhibit premature fussed coronal sutures, and other skull/ skeletal malformations. Surgical intervention is the only treatment option to ensure optimal cognitive and skeletal development. Our studies have identified a candidate molecular pathway that regulates bone formation by cranial bone cells from these patients. Targeting these key molecular signalling components with chemical inhibitors will help prevent the premature fusion of cranial sutures.
The Role Of UPF3B And Nonsense Mediated MRNA Decay Surveillance In The Pathology Of Intellectual Disability.
Funder
National Health and Medical Research Council
Funding Amount
$789,954.00
Summary
Proper functioning of the nonsense mediated mRNA decay (NMD or 'mRNA police') is crucial for any cell to ensure normal development and function. When NMD is compromised the outcome is learning and memory problems, autism or schizophrenia. Under this project we study malfunctioning NMD using stem and neuronal cells derived from patients' skin cells. Some of the affected genes might be considered for therapeutic interventions. NMD is relevant to 1000s of human disorders and as such it is of fundam ....Proper functioning of the nonsense mediated mRNA decay (NMD or 'mRNA police') is crucial for any cell to ensure normal development and function. When NMD is compromised the outcome is learning and memory problems, autism or schizophrenia. Under this project we study malfunctioning NMD using stem and neuronal cells derived from patients' skin cells. Some of the affected genes might be considered for therapeutic interventions. NMD is relevant to 1000s of human disorders and as such it is of fundamental importance.Read moreRead less
Non-equilibrium presolvation electron processes at the gas-liquid interface. The interaction of low-temperature plasma electrons with liquids has served as a reducing agent in various technological applications in water treatment, agriculture, biofuels and medicine. Predictive control of the plasma-liquid interface is essential to unlocking the potential of these applications, and this has been limited by the absence of the relevant non-equilibrium transport theory describing electrons at the pl ....Non-equilibrium presolvation electron processes at the gas-liquid interface. The interaction of low-temperature plasma electrons with liquids has served as a reducing agent in various technological applications in water treatment, agriculture, biofuels and medicine. Predictive control of the plasma-liquid interface is essential to unlocking the potential of these applications, and this has been limited by the absence of the relevant non-equilibrium transport theory describing electrons at the plasma-liquid interface together with fundamental data describing electron interactions with liquids. The project will develop a state of the art presolvation electron transport model informed by world first measurements of electron cross-sections for radicals and liquids and apply it to model plasma electrochemistry processes.Read moreRead less
About one in eight known genetic disorders involve DNA alteration that activates a cellular quality control mechanism that disables the affected gene. This mechanism is more efficient in some individuals than others. It can influence disease outcomes and severity. We will engineer and apply tools and models to measure and manipulate this crucial cellular mechanism. This will allow us to predict disease severity as well as to intervene where a manipulation of this mechanism will be beneficial.
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE120100021
Funder
Australian Research Council
Funding Amount
$150,000.00
Summary
A diagnostics platform for advanced plasma-chemical analysis. A wide range of production processes involve the use of plasmas to modify materials, but they are not well understood. This project will give Australian researchers the tools to look inside plasma processes and fully characterise them for the first time, unlocking new knowledge and providing new insight into the plasma processing environment.
Identification Of Genes For X-linked Mental Retardation.
Funder
National Health and Medical Research Council
Funding Amount
$675,228.00
Summary
We propose to identify novel heritable causes of intellectual disability using 22 large and well-characterised families from Australia. In these families we have refined the location of the genetic defect to the chromosome X and excluded the contribution of all so far known genes. We will achieve this using the technology of massive parallel sequencing. At the completion of the project we will have identified novel causes of intellectual disability and devised tests to identify them.
Genetic dissection of a regulatory deubiquitlyation network. The potential impact of this work is widespread, because although it is known that ubiquitlyation has regulatory consequences in multicellular eukaryotes, individual networks have not been completely described in higher eukaryotes. Knowledge gained about fundamental processes in the A. nidulans model system is directly applicable to fungi used in biotechnology in the food, beverage, enzyme and pharmaceutical production industries, and ....Genetic dissection of a regulatory deubiquitlyation network. The potential impact of this work is widespread, because although it is known that ubiquitlyation has regulatory consequences in multicellular eukaryotes, individual networks have not been completely described in higher eukaryotes. Knowledge gained about fundamental processes in the A. nidulans model system is directly applicable to fungi used in biotechnology in the food, beverage, enzyme and pharmaceutical production industries, and to fungal pathogens. Since the fungal genes that form the basis of this project are conserved in higher eukaryotes including humans, the knowledge will be transferable to these systems. A further benefit that cannot be overstated is the research education and training opportunities provided.
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Electron scattering and transport for plasma-liquid interactions. The project aims to address the emerging technologies associated with the interaction of plasmas with liquids and biological matter, including plasma medicine. The project expects to generate new knowledge on the role of electron-induced processes through the development of complete and accurate sets of microscopic cross-sections for electrons with biomolecules within tissue. This microscopic data will inform new microscopic model ....Electron scattering and transport for plasma-liquid interactions. The project aims to address the emerging technologies associated with the interaction of plasmas with liquids and biological matter, including plasma medicine. The project expects to generate new knowledge on the role of electron-induced processes through the development of complete and accurate sets of microscopic cross-sections for electrons with biomolecules within tissue. This microscopic data will inform new microscopic models for non-equilibrium electron transport in liquids and biological matter, and its coupling to plasmas. The expected outcomes of this project include progress towards the optimisation of safety/efficacy of future generation plasma medicine devices through detailed understanding of plasma-biological tissue interactions.Read moreRead less