A Genome-wide Association Study In 2000 Glaucoma Cases With Matched Controls Using Equimoloar DNA Pools
Funder
National Health and Medical Research Council
Funding Amount
$610,267.00
Summary
Glaucoma is a common cause of loss of vision worldwide but we are unable to predict which people are at high risk of blindness. We aim to discover the genetic risk factors for glaucoma. We will use cutting edge genetic technology to assess the whole genome in thousands of patients with glaucoma. We hope to identify important new glaucoma genes, which could lead to the development of diagnostic tests and treatments which will provide the most cost-efficient ways to prevent glaucoma blindness.
Understanding The Causes Of Childhood Congenital Anomalies Of The Kidney And Urinary Tract
Funder
National Health and Medical Research Council
Funding Amount
$609,748.00
Summary
Congenital anomalies of the kidney and urinary tract (CAKUT) is a common cause of renal failure in children. The majority of patients with CAKUT do not know the underlying cause of their renal anomalies. In this proposal we will characterise the developmental events that are perturbed in three mouse models of CAKUT and identify the causal gene responsible in each mouse model. We will translate this information to the clinic by screening patients with CAKUT for mutations in these newly identified ....Congenital anomalies of the kidney and urinary tract (CAKUT) is a common cause of renal failure in children. The majority of patients with CAKUT do not know the underlying cause of their renal anomalies. In this proposal we will characterise the developmental events that are perturbed in three mouse models of CAKUT and identify the causal gene responsible in each mouse model. We will translate this information to the clinic by screening patients with CAKUT for mutations in these newly identified genes.Read moreRead less
Transcriptional Control Of Blood Vessel Development By Sox18
Funder
National Health and Medical Research Council
Funding Amount
$468,564.00
Summary
Blood vessels play an essential role in maintaining the supply of nutrients to every organ and tissue in the body. Improper development of blood vessels in the embryo can compromise survival of the embryo, and defects in the ability of blood vessels to grow, regenerate and adapt to change during adult life can be life-threatening. The growth of new blood vessels (angiogenesis) is also an important factor in the ability of solid tumours to grow during the progression of cancer. It is therefore of ....Blood vessels play an essential role in maintaining the supply of nutrients to every organ and tissue in the body. Improper development of blood vessels in the embryo can compromise survival of the embryo, and defects in the ability of blood vessels to grow, regenerate and adapt to change during adult life can be life-threatening. The growth of new blood vessels (angiogenesis) is also an important factor in the ability of solid tumours to grow during the progression of cancer. It is therefore of fundamental importance in the health sciences to gain an understanding of how blood vessels form and regenerate. As a result of our collaborative research efforts, we have discovered a gene, Sox18, that appears to regulate blood vessel development by controlling the formation and-or behaviour of endothelial cells, which line the blood vessels and make them impermeable. Our research so far indicates that MICE WITH DEFECTS IN SOX18 DIE FROM VASCULAR DEFECTS, underlining the importance of this gene. THIS PROJECT IS CONCERNED WITH FINDING OUT HOW SOX18 WORKS - exactly what goes wrong in mice lacking this gene, whether Sox18 can influence endothelial cell behaviour in cell culture, how Sox18 comes to be active in endothelial cells, what genes are switched on by Sox18, and what genes Sox18 co-operates with in its role in endothelial cells. The answers to these questions will not only provide fundamental basic information about how blood vessels development is controlled, but also sow the seeds for possible future therapies in which blood vessel development could be stimulated (eg in wound healing) or suppressed (eg in tumour progression) through pharmaceutical intervention.Read moreRead less
Synthetic regulators of gene expression. RNA plays many essential roles in cells, from information transfer and regulation of gene expression to scaffolding macromolecular structures and catalysis. Despite these realisations the current approaches to manipulate RNA are limited in many respects. This project will use synthetic biology approaches to engineer synthetic regulators of RNAs in living cells. These studies will provide new tools for use in biological research and provide insights into h ....Synthetic regulators of gene expression. RNA plays many essential roles in cells, from information transfer and regulation of gene expression to scaffolding macromolecular structures and catalysis. Despite these realisations the current approaches to manipulate RNA are limited in many respects. This project will use synthetic biology approaches to engineer synthetic regulators of RNAs in living cells. These studies will provide new tools for use in biological research and provide insights into how natural proteins control gene expression. Furthermore, this project will use these tools to understand the mechanisms of how proteins are synthesised in mammalian mitochondria.Read moreRead less
An integrated molecular approach to human gene regulation. This proposal aims to reveal how the interaction of nuclear RNA and protein molecules control gene regulation in the face of cell stress. To understand how genetic variation leads to changes in the expression of genes, we need new insights into the fundamental principles underpinning complex gene regulatory systems. Building on the discovery of paraspeckles, novel gene regulatory structures, this project will yield insights into gene reg ....An integrated molecular approach to human gene regulation. This proposal aims to reveal how the interaction of nuclear RNA and protein molecules control gene regulation in the face of cell stress. To understand how genetic variation leads to changes in the expression of genes, we need new insights into the fundamental principles underpinning complex gene regulatory systems. Building on the discovery of paraspeckles, novel gene regulatory structures, this project will yield insights into gene regulation that will help fill these knowledge gaps. This will provide a more comprehensive understanding of RNA-mediated gene regulation, and will open up new research opportunities to target RNA based gene regulatory complexes.Read moreRead less
Investigations into the antibacterial mechanism of action of cannabidiol. This project aims to understand how the compound cannabidiol is able to kill bacteria by examining its interactions with bacteria from a genetic and molecular level. This research is critical, because future development of cannabidiol and design of improved analogs is predicated on knowing how it works. Expected outcomes include the first detailed understanding of how cannabidiol interacts with bacteria. This should lead ....Investigations into the antibacterial mechanism of action of cannabidiol. This project aims to understand how the compound cannabidiol is able to kill bacteria by examining its interactions with bacteria from a genetic and molecular level. This research is critical, because future development of cannabidiol and design of improved analogs is predicated on knowing how it works. Expected outcomes include the first detailed understanding of how cannabidiol interacts with bacteria. This should lead to significant benefits, including high impact publications, additional collaborations with industrial partner Botanix, and a new class of antibiotics to overcome antibiotic resistance.Read moreRead less
Chemical signalling in the sea. This project aims to understand how eggs attract and select sperm, and how the environment influences these interactions. Differential sperm chemotaxis, a form of mate choice involving chemical signalling between eggs and sperm, has only been described in mussels, but may be a widespread form of gamete-level sexual selection. The project will study the biochemical and molecular basis of differential sperm chemotaxis in mussels, and the stability of gamete-level in ....Chemical signalling in the sea. This project aims to understand how eggs attract and select sperm, and how the environment influences these interactions. Differential sperm chemotaxis, a form of mate choice involving chemical signalling between eggs and sperm, has only been described in mussels, but may be a widespread form of gamete-level sexual selection. The project will study the biochemical and molecular basis of differential sperm chemotaxis in mussels, and the stability of gamete-level interactions under different environmental conditions. Improved fundamental knowledge of reproduction in a commercially important marine species may yield future commercial benefits for Australia’s marine food production sectorRead moreRead less
Control points in nitrogen uptake: enhancing the response of cereals to nitrogen supply and demand. Vast amounts of nitrogen fertiliser are applied to cereal crops to maintain yields. By uncovering what limits nitrogen uptake in cereals, this project will provide the scientific basis for improving nitrogen use efficiency and decreasing fertiliser use, with significant economic and environmental benefits.
Engineering improved and multifunctional gene editing systems. Advances in genome editing have enabled the targeted modulation of gene expression in cells and provided new tools for biotechnology. This project will combine computational design and genetic selection to deliver the next generation of precision gene editing tools. These new technologies can be used for modification of genes in any cellular compartment and will be useful for understanding and improving energy metabolism. Increased c ....Engineering improved and multifunctional gene editing systems. Advances in genome editing have enabled the targeted modulation of gene expression in cells and provided new tools for biotechnology. This project will combine computational design and genetic selection to deliver the next generation of precision gene editing tools. These new technologies can be used for modification of genes in any cellular compartment and will be useful for understanding and improving energy metabolism. Increased cellular energy production can be harnessed to make valuable biological products, with unprecedented efficiency.Read moreRead less
eGenomics - Next generation biomonitoring of threatened species. DNA is the molecule of life and exists everywhere in the environment as a largely untapped source of information on evolution, biodiversity, and ecosystem health. Our overriding aim is to start mining that information to benefit threatened species. Based on optimized ancient DNA methods, powerful sequencing technology, whole genome analyses, and RNA profiling, we present a novel and holistic framework for genetic biomonitoring. In ....eGenomics - Next generation biomonitoring of threatened species. DNA is the molecule of life and exists everywhere in the environment as a largely untapped source of information on evolution, biodiversity, and ecosystem health. Our overriding aim is to start mining that information to benefit threatened species. Based on optimized ancient DNA methods, powerful sequencing technology, whole genome analyses, and RNA profiling, we present a novel and holistic framework for genetic biomonitoring. In two parallel model systems we will study corals and reptiles to improve environmental detection while simultaneously obtaining information on their population health. This will foster more efficient conservation of endangered species that are of tremendous importance to our marine and terrestrial ecosystems.Read moreRead less