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I am a developmental biologist who identifies and characterises genes required for normal embryonic development in mouse. I translate this information into the genetic diagnosis and developmental understanding of congenital malformations in humans.
Identification Of Genes Responsible For Disorders Of Sexual Development Using Genome-wide Copy Number Analysis
Funder
National Health and Medical Research Council
Funding Amount
$305,774.00
Summary
Congenital conditions in which development of the gonads or anatomical sex is abnormal are surprisingly common. The underlying cause of these problems is most often the failure of genes responsible for the proper development of testes or ovaries. Only a small proportion of patients can be explained by mutations in known gonad determining genes. We will analyse DNA from these patients on very high density microarrays to identify new genes that cause abnormalities in testis or ovary development.
Linking mutant zebrafish phenotypes with their underlying genetic lesions. Zebrafish mutants have been generated with many interesting abnormalities, but to understand these abnormalities, the defective genes must be identified by positional cloning. We seek to identify the defective genes underpinning four mutants. Mutant #562 develops a normal nervous system which then undergoes rapid degeneration. The mutant flotte lotte has abnormal gut development. Two mutants with defective early blood for ....Linking mutant zebrafish phenotypes with their underlying genetic lesions. Zebrafish mutants have been generated with many interesting abnormalities, but to understand these abnormalities, the defective genes must be identified by positional cloning. We seek to identify the defective genes underpinning four mutants. Mutant #562 develops a normal nervous system which then undergoes rapid degeneration. The mutant flotte lotte has abnormal gut development. Two mutants with defective early blood formation will be studied. We will establish techniques for several steps that will be useful for all zebrafish mapping projects. We expect the genetic characterization of these mutants to provide new insights into nerve cell survival, gut development, and blood formation.Read moreRead less
Molecular genetic analysis of genes controlling morphogenesis: Dimorphic switching in the fungus Penicillium marneffei. Fungi exist in two predominant growth forms; unicellular yeast and multicellular mould (filamentous hyphae). Some fungi can alternate between these two forms in response to environmental stimuli, a process known as dimorphic switching. The cells of these two forms have distinctive shapes and physiological capacities established by genome-wide expression patterns that are trigge ....Molecular genetic analysis of genes controlling morphogenesis: Dimorphic switching in the fungus Penicillium marneffei. Fungi exist in two predominant growth forms; unicellular yeast and multicellular mould (filamentous hyphae). Some fungi can alternate between these two forms in response to environmental stimuli, a process known as dimorphic switching. The cells of these two forms have distinctive shapes and physiological capacities established by genome-wide expression patterns that are triggered by signalling pathways. This research aims to understand the fundamental mechanisms controlling dimorphic switching using Penicillium marneffei, a model system. P. marneffei switches between yeast and filamentous forms in response to temperature. Uncovering the molecular mechanisms that control dimorphic switching has important implications for biotechnology and medicine.Read moreRead less
Molecular control of embryonic patterning: The function of Rhou gene in mediating response to WNT signalling. The scientific knowledge gained from this investigation of the early development of embryos will inform us of how the essential building blocks of the body are assembled, and provide insights into the genetic and developmental causes of birth defects. This will benefit the health professionals, the research community, the education sector and the general public, by underpinning the form ....Molecular control of embryonic patterning: The function of Rhou gene in mediating response to WNT signalling. The scientific knowledge gained from this investigation of the early development of embryos will inform us of how the essential building blocks of the body are assembled, and provide insights into the genetic and developmental causes of birth defects. This will benefit the health professionals, the research community, the education sector and the general public, by underpinning the formulation of new research hypotheses, enriching the curriculum and the provision of informed counselling. The embryological expertise developed for this project will enhance the nation's research capability through the sharing of skills and knowledge with a national network of academic and industrial research teams. Read moreRead less
Identification of the targets of a novel metalloproteinase inhibitor used for the treatment of human head lice. Human head lice are difficult to control. This project examines a new type of ovicidal treatment that prevents louse eggs from hatching. The goal is to understand precisely how this treatment is ovicidal, so that even more effective products might be designed. Beyond the benefits of providing a safe and reliable treatment option for a troublesome pest, the development of this product ....Identification of the targets of a novel metalloproteinase inhibitor used for the treatment of human head lice. Human head lice are difficult to control. This project examines a new type of ovicidal treatment that prevents louse eggs from hatching. The goal is to understand precisely how this treatment is ovicidal, so that even more effective products might be designed. Beyond the benefits of providing a safe and reliable treatment option for a troublesome pest, the development of this product will be a significant step forward for the Australian pharmaceutical industry.Read moreRead less
Ultra-high-throughput genotyping of Eucalyptus trees: Development and application of diversity array technology for genomic studies. A major international eucalypt genomic project is underway. Australia needs to take part because the Australian public would expect Australia to be at the forefront of research on one of its national symbols. Eucalypts are critically important to biodiversity and commercial forestry. The development of the proposed generic eucalypt DArT chip will help keep Australi ....Ultra-high-throughput genotyping of Eucalyptus trees: Development and application of diversity array technology for genomic studies. A major international eucalypt genomic project is underway. Australia needs to take part because the Australian public would expect Australia to be at the forefront of research on one of its national symbols. Eucalypts are critically important to biodiversity and commercial forestry. The development of the proposed generic eucalypt DArT chip will help keep Australia at the forefront of genetic and genomic research in eucalypts and help develop our biotechnology industry. Such research is essential for future forest tree breeding. Furthermore, eucalypt forests are one of our most important natural assets and their continual preservation requires that we develop better knowledge of their natural genetic variation and development.Read moreRead less
Copy Number Analysis Of Patients With Gonadal Abnormalities Using High Density Microarrays And MLPA
Funder
National Health and Medical Research Council
Funding Amount
$311,187.00
Summary
Congenital conditions in which development of the gonads or anatomical sex is abnormal are surprisingly common. The underlying cause of these problems is most often the failure of genes responsible for proper development of testes or ovaries. Only a small proportion of patients can be explained by mutations in known gonad determining genes. We will analyse DNA from these patients on very high density microarrays to identify new genes that cause abnormalities in testis and ovary development.
Genetic and epigenetic control of developmental competence. Development is an important biological process of life and understanding development has important medical and economic benefits for Australia. This research aims to study development using a simple, easily manipulated and well established experimental organism, a fungus, as a model for development in other organisms, including humans. In addition, fungi directly impact on life at many levels. Fungi can be pathogens of humans, other ani ....Genetic and epigenetic control of developmental competence. Development is an important biological process of life and understanding development has important medical and economic benefits for Australia. This research aims to study development using a simple, easily manipulated and well established experimental organism, a fungus, as a model for development in other organisms, including humans. In addition, fungi directly impact on life at many levels. Fungi can be pathogens of humans, other animals or plants significantly affecting our health, agriculture and industry. Fungi are also beneficial to other organisms, especially to many plants, and are used to manufacture pharmaceuticals and enzymes used in the health and biotechnology industries.Read moreRead less