Identification Of Glaucoma Susceptibility Variants By Exome Sequencing In Extended Pedigrees Showing Prior Evidence Of Gene Segregation.
Funder
National Health and Medical Research Council
Funding Amount
$694,002.00
Summary
Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. In this investigation we aim to identify these genes, with the hope they may offer novel targets for tr ....Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. In this investigation we aim to identify these genes, with the hope they may offer novel targets for treatment or diagnosis.Read moreRead less
Strabismus is the pathological misalignment of the eyes associated with loss of binocular vision and is one of the most common human ophthalmological disorders. Patients with comitant strabismus have full eye movements, whereas patients with incomitant strabismus have limited eye movements, which causes the angle of strabismus to vary with gaze direction. This project aims to define genetic contributors to comitant congenital strabismus.
Leveraging Genomics Strategies To Generate Adult Neurons From IPSCs And Somatic Cells
Funder
National Health and Medical Research Council
Funding Amount
$1,593,336.00
Summary
Recent advances have made it possible to derive myriad specialized human cells from stem cells or by directly reprogramming cell identity. However, these derived cells are generally arrested at a fetal developmental stage, and do not mature to function like adult cells. We will use new genomic, epigenetic, cell reprogramming, and manipulation methods to discover how to derive mature cells, aiming to generate mature neurons for use in neurobiology research, disease modeling, and drug screening.
Preparing Australia For Genomic Medicine: A Proposal By The Australian Genomics Health Alliance
Funder
National Health and Medical Research Council
Funding Amount
$25,000,000.00
Summary
The sequencing of the human genome brings the possibility of more accurate identification of the underlying basis of many diseases. This technology has moved so rapidly, however, that clinical access has been limited. In this application, a national alliance of clinicians, researchers, health economists and policymakers will evaluate the case for clinical genomics across inherited disease and cancer, determine how best to deliver this to the patient and train a capable workforce.
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.
Next generation high throughput lipidomics using adaptive modelling. This project aims to develop a unique high-throughput method to capture the lipidomic profile of human plasma suitable for large human population screening. Lipids are fundamental to every biological system, but our understanding of their regulation in humans have been largely superficial. By incorporating a new lipidomics approach, with genomic data, this project aims to expand our understanding of human biology by identifying ....Next generation high throughput lipidomics using adaptive modelling. This project aims to develop a unique high-throughput method to capture the lipidomic profile of human plasma suitable for large human population screening. Lipids are fundamental to every biological system, but our understanding of their regulation in humans have been largely superficial. By incorporating a new lipidomics approach, with genomic data, this project aims to expand our understanding of human biology by identifying regulators of lipid metabolism. The large diversity in humans necessitate sufficient sample sizes to identify true genetic regulators, but to date techniques capturing phenotypic data (lipids) have been largely limited. It is anticipated that this study will identify new regulators of lipid metabolism in humans.Read moreRead less
Mitigating the risk of cyanobacterial blooms in wastewater ponds. Cyanobacterial blooms in wastewater treatment plants impact on effluent quality and the utility of recycled water, posing a significant risk to the economy, the environment and public health. To understand the causes of cyanobacterial blooms in pond-based wastewater treatment plants and the risk they pose, this project will use the latest molecular techniques to examine how the microbial communities within these systems interact w ....Mitigating the risk of cyanobacterial blooms in wastewater ponds. Cyanobacterial blooms in wastewater treatment plants impact on effluent quality and the utility of recycled water, posing a significant risk to the economy, the environment and public health. To understand the causes of cyanobacterial blooms in pond-based wastewater treatment plants and the risk they pose, this project will use the latest molecular techniques to examine how the microbial communities within these systems interact with each other and their surrounding environment to form blooms and produce toxins and other harmful metabolites. Such knowledge will inform risk assessment and provide strategies for the mitigation of future bloom events, improving the security of our increasingly valuable recycled water resources.Read moreRead less
Fisheries genomics of snapper in Australia and New Zealand Waters. This industry-driven project aims to assemble a strategic research alliance to generate and apply knowledge to a highly significant fisheries resource. It involves collaboration between the five major state government fisheries agencies in Australia, the New Zealand’s Crown Research Institute for seafood and two Australian labs with leadership in fish genetics and genomics. It expects to generate and integrate genomic, environmen ....Fisheries genomics of snapper in Australia and New Zealand Waters. This industry-driven project aims to assemble a strategic research alliance to generate and apply knowledge to a highly significant fisheries resource. It involves collaboration between the five major state government fisheries agencies in Australia, the New Zealand’s Crown Research Institute for seafood and two Australian labs with leadership in fish genetics and genomics. It expects to generate and integrate genomic, environmental and phenotypic datasets for snapper populations from across vast coastal regions of the two countries. The outcomes should substantially enhance intra- and inter-jurisdictional fisheries management and aquaculture initiatives, providing commercial, social and environmental benefits for many stakeholders.Read moreRead less