Elucidating the molecular mechanisms underlying migraine and endometriosis via genetic dissection. The research aims to identify genetic variants underlying migraine and endometriosis susceptibility. Advances in the genetics of these common and painful disorders, including identification of genetic biomarkers (genetic variations that can predict disease susceptibility, disease outcome, or treatment response), will offer better rationales for scientific enquiry, helping the discovery of new treat ....Elucidating the molecular mechanisms underlying migraine and endometriosis via genetic dissection. The research aims to identify genetic variants underlying migraine and endometriosis susceptibility. Advances in the genetics of these common and painful disorders, including identification of genetic biomarkers (genetic variations that can predict disease susceptibility, disease outcome, or treatment response), will offer better rationales for scientific enquiry, helping the discovery of new treatment pathways and improve predictions of drug efficacy and safety. Thus providing improved treatment strategies for the individual sufferer and reduce the direct medical and indirect economic costs to individual sufferers as well as to the general community.Read moreRead less
Developing methods for the analysis of massively parallel sequencing data in family studies. This project will develop analytical methods to use the latest, high-throughput method of generating sequencing data, i.e. the letters of the human genome alphabet. These tools will be used to identify the causal mutations in families with inherited disorders, leading to diagnostic tests for these families.
Understanding the molecular mechanisms of intellectual disability. Intellectual disability is frequent in the population, with one in every fifty people in the world directly affected. This project will improve our understanding of the correct development and function of the brain required for cognition by investigating specific roles and regulation of key molecules involved.
Visualising genetic mosaicism during development. Genetic diversity is the variation in DNA sequence among individuals. We now know that there are also differences in the DNA sequences of cells within the same individual, known as genetic mosaicism. The aims of this proposal are 1) to develop a system to visualise genetic mosaicism 2) arising during embryonic development and 3) in the brain, driven by mobile DNA activity. The expected outcome of this proposal is an unprecedented understanding of ....Visualising genetic mosaicism during development. Genetic diversity is the variation in DNA sequence among individuals. We now know that there are also differences in the DNA sequences of cells within the same individual, known as genetic mosaicism. The aims of this proposal are 1) to develop a system to visualise genetic mosaicism 2) arising during embryonic development and 3) in the brain, driven by mobile DNA activity. The expected outcome of this proposal is an unprecedented understanding of the scope and consequences of mobile DNA-driven mosaicism. This work will have significant impacts in developmental genetics and neurogenetics, and has the benefit of introducing an innovative experimental system with the potential to spark international scientific collaboration and recognition.Read moreRead less
Identification of genetic polymorphisms of synaptically expressed genes that contribute to variation in normal brain function. This project focuses on understanding brain functions. Brain and mind disorders are by far the largest contributors to the burden of disability, far exceeding any other disorder. This research will contribute to knowledge through addressing the national research priority promoting and maintaining good health. The research outcomes will form the scientific knowledge base ....Identification of genetic polymorphisms of synaptically expressed genes that contribute to variation in normal brain function. This project focuses on understanding brain functions. Brain and mind disorders are by far the largest contributors to the burden of disability, far exceeding any other disorder. This research will contribute to knowledge through addressing the national research priority promoting and maintaining good health. The research outcomes will form the scientific knowledge base essential for the translation of the project into public benefit through their application in development of new testing paradigms for a range of brain and mind disorders. Read moreRead less
Sino-Australian neurogenetics initiative. This project will undertake large population studies to identify genes that are associated with motor neuron disease, schizophrenia and intracranial haemorrhage. The project will determine genetic markers, aid development of diagnostic tools and identify new therapeutic targets for these common heritable neurological diseases.
Mechanosensitive properties and modulation of N-methyl-D-aspartate (NMDA) receptors by lipid environment. This project will provide new information about the molecular determinants which influence NMDA receptor channel gating that will significantly advance our understanding of a link between NMDA receptor function and many neurodegenerative diseases as well as pain and learning and memory. The outcomes of this project may lead to the discovery of novel lipid-based biomaterials for application i ....Mechanosensitive properties and modulation of N-methyl-D-aspartate (NMDA) receptors by lipid environment. This project will provide new information about the molecular determinants which influence NMDA receptor channel gating that will significantly advance our understanding of a link between NMDA receptor function and many neurodegenerative diseases as well as pain and learning and memory. The outcomes of this project may lead to the discovery of novel lipid-based biomaterials for application in medicine and the drug industry. This research is highly significant in relation to human health. The biological and nutritional aspects of polyunsaturated lipids and dietary fish oils have long been recognized. Thus this project will provide further knowledge that could benefit the health of the nation with consequent reduced health care costs.Read moreRead less
Shaping the vertebrate brain: defining the cellular and genetic drivers . This project aims to uncover specific cellular and genetic mechanisms that control growth and shape of the brain. How brain shape and size changes during evolution of vertebrates is enigmatic but important to know for better understanding of behaviour and function of intact and diseased brain. The project aims to assemble team of national and international experts to build international capacity and unique genetics model t ....Shaping the vertebrate brain: defining the cellular and genetic drivers . This project aims to uncover specific cellular and genetic mechanisms that control growth and shape of the brain. How brain shape and size changes during evolution of vertebrates is enigmatic but important to know for better understanding of behaviour and function of intact and diseased brain. The project aims to assemble team of national and international experts to build international capacity and unique genetics model to generate new knowledge of the cellular and genetic components that drive evolution of different brain parts and shapes the vertebrate brain. In doing so the project aims to provide research training, excellence and knowledge that in future may benefit health and the society. Read moreRead less
Insulin transport into the central nervous system. This project aims to understand transportation of peripheral insulin into the central nervous system and how it maintains energy balance. Insulin is essential for normal physiological functioning in the periphery and central nervous system, but some circumstances, including high-fat diets, reduce insulin signalling in the brain. This project examines the mechanisms of insulin transport into the central nervous system, and may improve our underst ....Insulin transport into the central nervous system. This project aims to understand transportation of peripheral insulin into the central nervous system and how it maintains energy balance. Insulin is essential for normal physiological functioning in the periphery and central nervous system, but some circumstances, including high-fat diets, reduce insulin signalling in the brain. This project examines the mechanisms of insulin transport into the central nervous system, and may improve our understanding of blood brain barrier insulin transport and dysfunction.Read moreRead less
Molecular dissection of the effects of alpha-actinin-3 deficiency on normal variation in skeletal muscle function. We will study the mechanisms by which a common genetic variant influences muscle bulk, muscle strength and the metabolic efficiency of muscle in the general population. Common genetic variants that influence skeletal muscle function have major potential public health implications as they are likely to influence individuals' response to exercise and diet, and to contribute to suscept ....Molecular dissection of the effects of alpha-actinin-3 deficiency on normal variation in skeletal muscle function. We will study the mechanisms by which a common genetic variant influences muscle bulk, muscle strength and the metabolic efficiency of muscle in the general population. Common genetic variants that influence skeletal muscle function have major potential public health implications as they are likely to influence individuals' response to exercise and diet, and to contribute to susceptibility to common diseases such as obesity, diabetes, and the loss of muscle strength in the elderly. In addition, the identification of genetic factors that influence muscle bulk in vertebrates has implications for breeding programs in sheep and cattle and may provide commercial benefit to the livestock industry.Read moreRead less