I am an epidemiologist using high quality data collections and novel methods to generate new knowledge that will help reduce the impact or prevalence of birth defects and related disability.
Production Of Humanised Mouse Models For Haemoglobin E And 0-thalassaemia
Funder
National Health and Medical Research Council
Funding Amount
$280,693.00
Summary
The proposed study aims to identify and characterise genes critical to male fertility using two mouse models of infertility: 1) Joey mouse line: an ENU induced model of sperm abnormalities. Following linkage analysis, candidate genes will be selected for sequencing to identify the causal mutation. 2) Ggn knockout mice. The role of the testis-specific gene, Ggn will be characterised through a phenotypic analysis of Ggn knockout mice and a series of expression and biochemical analyses. Both models ....The proposed study aims to identify and characterise genes critical to male fertility using two mouse models of infertility: 1) Joey mouse line: an ENU induced model of sperm abnormalities. Following linkage analysis, candidate genes will be selected for sequencing to identify the causal mutation. 2) Ggn knockout mice. The role of the testis-specific gene, Ggn will be characterised through a phenotypic analysis of Ggn knockout mice and a series of expression and biochemical analyses. Both models will be of direct value in the identification of commercially relevant contraceptive targets, as well as furthering our understanding of male reproductive function.Read moreRead less
I am a molecular geneticist with a primary focus on the identification of genes and sequence variants underlying susceptibility to, and progression of, various tumour types _ in particular tumours of the skin (moles and melanoma), oesophagus, ovary, lung
Bipolar affective disorder (BP), or manic-depressive illness, is a major cause of disability and mortality worldwide. It has a lifetime prevalence of about 1% and suicide risk of about 20%. The disorder is characterised by episodes of mania or hypomania and depression, appearing in varying succession, with or without intermission. Twin, family, and adoptive studies point to a strong genetic component leading to the development of bipolar disorder, with a heritability of the order of 80%. Yet the ....Bipolar affective disorder (BP), or manic-depressive illness, is a major cause of disability and mortality worldwide. It has a lifetime prevalence of about 1% and suicide risk of about 20%. The disorder is characterised by episodes of mania or hypomania and depression, appearing in varying succession, with or without intermission. Twin, family, and adoptive studies point to a strong genetic component leading to the development of bipolar disorder, with a heritability of the order of 80%. Yet the identification of the genetic basis of the disease has proved exceedingly difficult, with numerous studies producing no definitive data. The lack of convincing results has been interpreted as an indication of complex genetic mechanisms and underlying differences between affected families and ethnic groups. Genetically isolated populations, where most individuals descend from a small number of founders, are believed to hold great potential for understanding the genetic basis of complex diseases, such as bipolar disorder. Affected subjects in such populations are likely to share the same predisposing genes, making these genes easier to identify. During the last 10 years, we have been involved in the study of bipolar disorder in one such population, with very promising results. In this project, we propose to take the research further by collecting more affected families, confirming the current positive findings and narrowing down the search to a small region, possibly a single gene. If successful, the study will be a major breakthrough which, by identifying a molecular pathway and disease mechanism, will contribute valuable and generally valid information on the biological basis of mood disorders.Read moreRead less
Population dynamics and genetic variation of plants with contrasting fire responses. We combine the traditional concerns of population viability analyses with the modern techniques of DNA fingerprinting for precise genotyping of individual plants and their seeds. We expect major breakthroughs in our understanding of how fire-killed species have survived thousands of years of frequent burning by Aborigines (by identifying seeds dispersed long distances from burnt parents); how paternity of offspr ....Population dynamics and genetic variation of plants with contrasting fire responses. We combine the traditional concerns of population viability analyses with the modern techniques of DNA fingerprinting for precise genotyping of individual plants and their seeds. We expect major breakthroughs in our understanding of how fire-killed species have survived thousands of years of frequent burning by Aborigines (by identifying seeds dispersed long distances from burnt parents); how paternity of offspring changes over the lifespan of plants which retain their seeds for many years; at what age within-plant genetic variation is at a maximum as a guide to optimal fire management; and the extent that deleterious somatic mutations explain low seed set among long-lived species.Read moreRead less
Sex, parthenogenesis and adaptation: a novel laboratory 'natural selection' experiment testing the adaptive significance of sexual and asexual reproduction. One of the greatest challenges for evolutionary biology is explaining the widespread occurrence of sexual reproduction. Many theoretical models show some inherent benefits of sex, however these models make assumptions that little or no empirical data exists for. Using a novel phenomenon found in the parasitoid wasp genus Trichogramma, I will ....Sex, parthenogenesis and adaptation: a novel laboratory 'natural selection' experiment testing the adaptive significance of sexual and asexual reproduction. One of the greatest challenges for evolutionary biology is explaining the widespread occurrence of sexual reproduction. Many theoretical models show some inherent benefits of sex, however these models make assumptions that little or no empirical data exists for. Using a novel phenomenon found in the parasitoid wasp genus Trichogramma, I will investigate the adaptive significance of sexual and asexual reproduction in a laboratory natural selection experiment and therefore directly test the theory for the evolution and maintenance of sex. This will be the first such test in a higher organism.Read moreRead less
Fine Mapping Of A Significant Linkage Region For Endometriosis
Funder
National Health and Medical Research Council
Funding Amount
$518,250.00
Summary
Endometriosis is a common disorder affecting up to 10% of women. In this condition, a special type of tissue that normally lines the inside of the womb (the 'endometrium') starts to grow outside the womb, mostly in the pelvis (lower abdomen). Common symptoms are severe pelvic pain, menstrual problems and infertility. The disease has a major impact on women's health, relationships, productivity and life choices. The mechanisms that cause endometriosis are not well understood. Genetic factors infl ....Endometriosis is a common disorder affecting up to 10% of women. In this condition, a special type of tissue that normally lines the inside of the womb (the 'endometrium') starts to grow outside the womb, mostly in the pelvis (lower abdomen). Common symptoms are severe pelvic pain, menstrual problems and infertility. The disease has a major impact on women's health, relationships, productivity and life choices. The mechanisms that cause endometriosis are not well understood. Genetic factors influence a woman's risk of developing endometriosis and finding genes and pathways leading to this disease would be a major advance. This will help design better approaches for the diagnosis, prevention and treatment of endometriosis. Since 1996, nearly 4,000 women with endometriosis plus their families have joined our genetic study. This includes around 1,000 families with two or more sisters who both have the disease. We have looked at the DNA from these sisters and found significant evidence for a gene or genes affecting endometriosis on one chromosome. No one else has linked this location with endometriosis. We are now focusing our efforts in the laboratory on this area, which contains approximately 250 genes. The aim of our new project is to study genes in the region in more detail to pinpoint the gene or genes responsible for risk of endometriosis.Read moreRead less
Assessing the potential for and success of animal tranlocation: The Eastern Bristlebird as a case study. Translocation is set to become an important tool in the biodiversity conservation "toolbox", especially in securing species of small, cover-dependent, poorly dispersed passerine birds. Although there is a good theory for translocations, too few have been studied in detail to direct actions or predict outcomes. This project will develop a translocation methodology for the endangered Eastern Br ....Assessing the potential for and success of animal tranlocation: The Eastern Bristlebird as a case study. Translocation is set to become an important tool in the biodiversity conservation "toolbox", especially in securing species of small, cover-dependent, poorly dispersed passerine birds. Although there is a good theory for translocations, too few have been studied in detail to direct actions or predict outcomes. This project will develop a translocation methodology for the endangered Eastern Bristlebird and use detailed trapping and radio-tracking to determine the success of founder populations and the impacts of removing animals from source sites.Read moreRead less