Epigenetic Hyperglycemic Cell Memory Causes Vascular Complications In Type 1 Diabetes
Funder
National Health and Medical Research Council
Funding Amount
$332,140.00
Summary
This project seeks to identify how epigenetic change in response to hyperglycemia can cause vascular complications of diabetes, and how this contributes to “hyperglycemic memory”; a phenomena where cells may undergo gene modifications which increase risk to further complications later in a patients life. These studies are the first of their kind and will characterize the types of epigenetic change that can cause human disease.
I am a geneticist using multidisciplinary genetic and genomic approaches to study transcriptional mechanisms and molecular pathogenesis in autoimmunity and haematological malignancies.
Identification Of Genes For Non-syndromic Intellectual Disability And Walker-Warburg Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$399,984.00
Summary
Mental retardation (MR) affects 3% of people and the cause is still largely unknown. Walker-Warburg syndrome (WWS) is an inherited cause of severe MR that also includes eye and muscle disease. Recent studies suggest that there are at least ten WWS genes. This project will identify MR and WWS genes by searching for gene alteration (mutations) that affected families have in common. Knowledge of the genetic causes will lead to better understanding of normal brain development and therapies.
I am a molecular geneticist with a special interest in molecular pathology determining the inherited and somatic genetic events that predispose to, and advance cancer development. Much of this work has immediate translatability to clinical genetics practi
Intron encoded RNA regulatory networks in yeast. This project has the capacity to transform our understanding of the evolution, development and genetic variation of complex organisms, as well as the self-organization of complex systems in general. The national and community benefits of the project will be to maintain Australian leadership in advanced genetics and genome-phenome informatics. It will provide a platform for many applications in biology and biotechnology, including new genetic diagn ....Intron encoded RNA regulatory networks in yeast. This project has the capacity to transform our understanding of the evolution, development and genetic variation of complex organisms, as well as the self-organization of complex systems in general. The national and community benefits of the project will be to maintain Australian leadership in advanced genetics and genome-phenome informatics. It will provide a platform for many applications in biology and biotechnology, including new genetic diagnostics and an informed basis for the engineering of complex traits in agriculture. The project will also provide insights into the structure of biological communication and control systems with applications in information science and the programming of integrated complex systems in other domains.Read moreRead less
Non-HFE Haemochromatosis In Australia: Natural History And Molecular Characterisation
Funder
National Health and Medical Research Council
Funding Amount
$179,948.00
Summary
Hereditary haemochromatosis (HH) is a disorder characterised by excessive iron absorption and build up of iron in body organs such as the liver. The excess iron can be toxic and cause disease. Most HH is caused by mutations in the HFE gene. Other forms are caused by mutations in other genes. This project will characterise a new form of HH that is unrelated to any of the previously known genes. The project aims to find the gene for this new condition by genetic analysis in a large family.
Molecular Basis Of Mitochondrial Complex I Deficiency, The Most Common Energy Generation Disorder
Funder
National Health and Medical Research Council
Funding Amount
$515,750.00
Summary
Oxygen is needed by every cell in the body to burn fuels (ie sugar, fat and protein) in small power plants inside each cell called mitochondria. In Australia, about 50 children born each year have inherited disorders of mitochondrial energy generation. The most severe disorders cause infant death, while others cause a range of degenerative diseases later in life, particularly affecting brain, muscle and heart. In most cases we do not have any effective treatments. A major problem in understandin ....Oxygen is needed by every cell in the body to burn fuels (ie sugar, fat and protein) in small power plants inside each cell called mitochondria. In Australia, about 50 children born each year have inherited disorders of mitochondrial energy generation. The most severe disorders cause infant death, while others cause a range of degenerative diseases later in life, particularly affecting brain, muscle and heart. In most cases we do not have any effective treatments. A major problem in understanding mitochondrial energy generation disorders is that the genetic causes are incredibly diverse. So far more than 20 genes have been shown to cause mitochondrial disorders, and it is likely that over one hundred more genes remain to be discovered. In addition to the regular genes that cause these and other genetic disorders, mitochondria are unique in carrying 37 extra genes located in a different part of the cell away from the rest of the human genome, and inherited only from the mother. This grant focuses on the most common energy generation disorder, known as Complex I deficiency. Complex I requires 43 separate components to be assembled together in order to work properly, but mutations in the 43 genes encoding these components are not present in most patients. We believe that the most common problems will be in genes involved in assembling the 43 components rather than in the components themselves. We will use a number of methods to pinpoint where in the genome the causative genes are located and then home in on the exact changes in the genes that cause disease. Identifying these genes will allow us to improve future diagnosis and prevention of mitochondrial disease. Understanding the basic biology may also allow us to develop new methods of treatment. Recent studies suggest that milder mitochondrial problems also contribute to a range of more common diseases such as diabetes and Parkinson disease, so any new treatments could potentially have wide application.Read moreRead less
Dissecting insect gut function to understand insecticide detoxification. Massive quantities of chemical insecticides are used daily to control the insect pests that threaten agriculture, human health and the welfare of domestic pets. Insects readily evolve resistance to these chemicals reducing the effectiveness of pest control, increasing the amount of chemical used and increasing costs to consumers. This project examines the way in which insects adapt to the extreme stress imposed on them by ....Dissecting insect gut function to understand insecticide detoxification. Massive quantities of chemical insecticides are used daily to control the insect pests that threaten agriculture, human health and the welfare of domestic pets. Insects readily evolve resistance to these chemicals reducing the effectiveness of pest control, increasing the amount of chemical used and increasing costs to consumers. This project examines the way in which insects adapt to the extreme stress imposed on them by chemical insecticides. A thorough understanding of this adaptation process is required before insecticide resistance can be effectively managed or prevented. Read moreRead less
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0775587
Funder
Australian Research Council
Funding Amount
$532,000.00
Summary
Correlating Genomics and Proteomics for Systems Biology: integrating the '-omics'. Acquisition of the infrastructure requested will maintain and extend the expertise developed by researchers in NSW and will allow retention and attraction of leading researchers who can contribute to understanding how genes and proteins interact in the development of the organism - the central focus of systems biology. The enhancement of the facility will allow a better understanding of biomolecular interactions ....Correlating Genomics and Proteomics for Systems Biology: integrating the '-omics'. Acquisition of the infrastructure requested will maintain and extend the expertise developed by researchers in NSW and will allow retention and attraction of leading researchers who can contribute to understanding how genes and proteins interact in the development of the organism - the central focus of systems biology. The enhancement of the facility will allow a better understanding of biomolecular interactions in health and disease, providing both community and national benefits. The focus of this LIEF application is to provide infrastructure platforms for the study of the systems biology of organisms and additional capacity by the facility for the expected increased demand for this technology in this new area. Read moreRead less