I am a molecular geneticist with a main research focus in the identification and characterisation of genes and molecular pathways involved in intellectual disability and epilepsy.
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.
Symmetry in Differential Geometry. Differential geometry is a major branch of mathematics studying shape by using calculus and differential equations. This is a fundamental research project in this area, especially concerned with the interaction between geometry, differential equations, and symmetry. The mathematical notion of symmetry was already formalised early last century and nowadays lies at the very heart of mathematics and physics. Advances in this area provide essential tools in basic s ....Symmetry in Differential Geometry. Differential geometry is a major branch of mathematics studying shape by using calculus and differential equations. This is a fundamental research project in this area, especially concerned with the interaction between geometry, differential equations, and symmetry. The mathematical notion of symmetry was already formalised early last century and nowadays lies at the very heart of mathematics and physics. Advances in this area provide essential tools in basic science and unexpected technological benefits can easily arise (for example, in medical imaging). Fundamental mathematical research is absolutely necessary if Australia is to maintain a presence on the international scientific stage.
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Classification and Invariants in Complex Differential Geometry. Differential geometry is the study of shape using calculus and differential equations. This is a fundamental research project in this area. Complex differential geometry refers to geometry based on the complex numbers, generally a rich and intriguing setting. Geometries will be distinguished by the construction of suitable invariants, both algebraic and analytic. Classification problems will be solved by these means. Of particular i ....Classification and Invariants in Complex Differential Geometry. Differential geometry is the study of shape using calculus and differential equations. This is a fundamental research project in this area. Complex differential geometry refers to geometry based on the complex numbers, generally a rich and intriguing setting. Geometries will be distinguished by the construction of suitable invariants, both algebraic and analytic. Classification problems will be solved by these means. Of particular interest are geometries with a high degree of symmetry, a critical feature that pervades both mathematics and physics. Twistor theory provides the unifying theme for this project.Read moreRead less
Homotopical structures in algebraic, analytic, and equivariant geometry. This is a project for fundamental research in pure mathematics. It is focused on an emerging subfield of complex geometry concerned with spaces and maps that exhibit exceptional flexibility properties, which often go hand-in-hand with a high degree of symmetry. The project aims to develop the foundations of this new area, solve several open problems, and pursue interconnections with and applications to algebraic geometry, c ....Homotopical structures in algebraic, analytic, and equivariant geometry. This is a project for fundamental research in pure mathematics. It is focused on an emerging subfield of complex geometry concerned with spaces and maps that exhibit exceptional flexibility properties, which often go hand-in-hand with a high degree of symmetry. The project aims to develop the foundations of this new area, solve several open problems, and pursue interconnections with and applications to algebraic geometry, complex analysis, geometric invariant theory, and topology.Read moreRead less
Cell type-specific transgene expression to increase Fe content in cereal grains. The grains industry forms a vital part of the Australian economy and farm sector. Increased iron concentrations of wheat and other cereal grains would greatly increase their nutritional value for people worldwide, thereby increasing their market value and profitability for farmers. High iron wheat would also lower the production costs of many Australian wheat products by reducing or eliminating the need for iron for ....Cell type-specific transgene expression to increase Fe content in cereal grains. The grains industry forms a vital part of the Australian economy and farm sector. Increased iron concentrations of wheat and other cereal grains would greatly increase their nutritional value for people worldwide, thereby increasing their market value and profitability for farmers. High iron wheat would also lower the production costs of many Australian wheat products by reducing or eliminating the need for iron fortification of wheat flour. High iron cereals promote healthy development of young Australians and can improve preventative healthcare by reducing the incidence of iron deficiency anaemia and biochemical deficiency.Read moreRead less
Cerebral Palsy (CP) is a devastating, common developmental brain disorder once assumed to be due to lack of oxygen at birth. Using our unique Biobank with DNA and clinical data from families with a CP child, we are examining the genetic origins of CP and how genes and risk factors in pregnancy contribute. We will use computer modelling and testing in animals and brain cells, to understand causes of CP and devise predictive, preventative and therapeutic strategies.
Neourobiology Of Human Epilepsy: Genes, Cellular Mechanisms,network And Whole Brain
Funder
National Health and Medical Research Council
Funding Amount
$17,652,824.00
Summary
The team is comprised of neurologists, molecular geneticists, physiologists and brain imaging specialists and leads the world in the discovery of the genetic causes of epilepsy. They will continue to identify genes underlying epilepsy and study how genetic variations result in development of seizures. Advanced brain imaging will be used to understand the effects of genetic variation on brain structure and function. This study may lead to new diagnostic methods and treatments for epilepsy.
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.
Role of alanine aminotransferase in improved nitrogen use efficiency (NUE) in cereals. The use of nitrogen-based fertilisers by crop plants is poor where efficiencies (nitrogen taken up to that applied) is often less than 40%. Nitrogen not used is often lost to the environment through leaching and or volatilisation. Improving nitrogen use efficiency (NUE) in agriculture will decrease overall nitrogen fertiliser use and minimise its environmental footprint. This project will characterise a nov ....Role of alanine aminotransferase in improved nitrogen use efficiency (NUE) in cereals. The use of nitrogen-based fertilisers by crop plants is poor where efficiencies (nitrogen taken up to that applied) is often less than 40%. Nitrogen not used is often lost to the environment through leaching and or volatilisation. Improving nitrogen use efficiency (NUE) in agriculture will decrease overall nitrogen fertiliser use and minimise its environmental footprint. This project will characterise a novel NUE technology that when transferred to plants significantly improves NUE. We will define the phenotype at the molecular, biochemical and physiological levels to maximise its adoption to other agricultural crops such as wheat, barley and maize.Read moreRead less