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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.
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.
Deciphering the regulation and function of the epigenome in eukaryotic development and stress response. The epigenome is an additional regulatory code superimposed upon plant and animal genomes that controls how they operate. This project will aim to understand the information encoded in the epigenome and how it changes in development and environmental stress, enabling manipulation of its function in crops and correction of its dysfunction in disease.
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.
Discovery Early Career Researcher Award - Grant ID: DE150100460
Funder
Australian Research Council
Funding Amount
$380,000.00
Summary
Role of DNA methylation in response to low nutrient availability in plants. DNA methylation (mC) is a covalent modification of DNA essential for the establishment and maintenance of correct gene expression patterns and recently suggested to be responsive to some environmental cues in plants. Using cutting edge technologies, this project aims to identify nutrient stress-induced mC changes and investigate the role that these changes may play in transcriptional regulation, as well as assessing whet ....Role of DNA methylation in response to low nutrient availability in plants. DNA methylation (mC) is a covalent modification of DNA essential for the establishment and maintenance of correct gene expression patterns and recently suggested to be responsive to some environmental cues in plants. Using cutting edge technologies, this project aims to identify nutrient stress-induced mC changes and investigate the role that these changes may play in transcriptional regulation, as well as assessing whether these changes can be transmitted to the next generation to confer intergenerational stress responsiveness. Altogether this project aims to provide fundamental knowledge of the role of mC in plant gene regulation and stress response as well as paving the way for the next generation of novel crop-improvement strategies.Read moreRead less
Identifying the diversity and evolution of loci associated with adaptation to aridity/heat and salinity in ancient cereal crops. This project will use ancient grains of wheat, barley and rye to find 'lost' genetic diversity at key genes associated with resistance to aridity, salt and disease. This project will make the proteins of key genes, and study their interaction with the environment over time by measuring ions in the grains to reveal the ancient environmental conditions.
Drugging the undruggable: Development of novel technologies to selectively regulate the expression of targets driving cancer and other diseases. Transcription factors are “undruggable” targets playing a principal role driving cancer. This project will create novel therapeutic strategies to inhibit transcription factors and other elusive targets differentially expressed in diseased cells, without affecting normal tissue. It proposes to construct engineered proteins able to bind and modify specifi ....Drugging the undruggable: Development of novel technologies to selectively regulate the expression of targets driving cancer and other diseases. Transcription factors are “undruggable” targets playing a principal role driving cancer. This project will create novel therapeutic strategies to inhibit transcription factors and other elusive targets differentially expressed in diseased cells, without affecting normal tissue. It proposes to construct engineered proteins able to bind and modify specific key genes deregulated in cancer, to correct their expression and stably reprogram the phenotype of the tumour cell in a normal-like state. It outlines the engineering of novel synthetic agents to block specific protein-protein interactions in cancer cells and to induce potent tumour cell death. This work will generate novel and selective therapeutics to treat un-curable forms of tumours.Read moreRead less
Australian Heritage: constructing the first Aboriginal reference genome. This project aims to use DNA sequencing technologies to generate the first complete and accurate Aboriginal genomes, along with maps of genomic variation around Australia. It will combine a range of advanced analytical methods to integrate past and present indigenous genetic diversity from human populations around the world into a new pan-human reference genome. This project will lead to a step change in our understanding o ....Australian Heritage: constructing the first Aboriginal reference genome. This project aims to use DNA sequencing technologies to generate the first complete and accurate Aboriginal genomes, along with maps of genomic variation around Australia. It will combine a range of advanced analytical methods to integrate past and present indigenous genetic diversity from human populations around the world into a new pan-human reference genome. This project will lead to a step change in our understanding of global human genomic variants and provide a range of new targets relevant to medical biology, while significantly improving our knowledge of human genetic history and its consequences in the modern day.Read moreRead less
High Penetrance Deleterious Mutations In Blinding Glaucoma
Funder
National Health and Medical Research Council
Funding Amount
$1,345,055.00
Summary
This project aims to identify the genes most commonly mutated in individuals with advanced glaucoma. Identification of such genes will lead to improved understanding of glaucoma pathogenesis, a better ability to predict risk, and the identification of drug targets for novel therapies.
System-level characterisation of the siphonophore, Indo-Pacific man o' war. The Indo-Pacific man o' war (bluebottle), is a cnidarian from the siphonophore order. These animals frequent Australian beaches in swarms and cause thousands of stings every year. The project proposes to profile the genome, transcriptome, epigenome, and proteome of the bluebottle to gain insight into its life cycle, its behaviour, and toxins. Expected outcomes include the generation of novel information related to bluebo ....System-level characterisation of the siphonophore, Indo-Pacific man o' war. The Indo-Pacific man o' war (bluebottle), is a cnidarian from the siphonophore order. These animals frequent Australian beaches in swarms and cause thousands of stings every year. The project proposes to profile the genome, transcriptome, epigenome, and proteome of the bluebottle to gain insight into its life cycle, its behaviour, and toxins. Expected outcomes include the generation of novel information related to bluebottle gene regulation and its toxin repertoire, which will be highly beneficial for the design of future sting treatment strategies. Given that the bluebottle is a colony made of functionally specialised polyps, this study will also provide significant novel insight into the origins and evolution of animal multicellularity.Read moreRead less