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Genetic testing in the age of anxiety. From rhetoric to narrative.Leontini, Rose, School of Sociology, UNSW January 2005 (has links)
The debate on genetic testing for Huntington???s disease has been dominated heavily by the bioethical and biomedical discourses. Yet upon analysis, both discourses are highly inadequate for understanding the complexity of the difficult choices people are faced with, and the inter-personal relations that are central to decisions regarding the uptake of genetic tests. The purpose of this thesis is two-fold. Firstly, to conduct a theoretically-informed critical analysis of the existing bioethical discourse on genetic testing for Huntington???s disease, that draws primarily on the work of contemporary feminist thinkers. Secondly, to explore how people with a genetic risk for Huntington???s disease negotiate the available choices between certainty and uncertainty; how they experience the liminality of ???being at risk??? in everyday life; how they manage their social environments; and how they interpret their own situation. The matter of ???choice??? is heightened because of the ready availability of genetic testing for Huntington???s disease, and the moral rhetoric that accompanies the provision of genetic services. Empirically, the research draws on the narratives by eleven people with a family history of Huntington???s disease, through which they discuss their fears of living in the shadow of the fatal disease, and consider their choices on reproduction and genetic testing. Their narratives will be analysed through the work of Foucault and Goffman, as well as a wide range of contemporary sociologists.The thesis being proposed is that decisions on genetic testing cannot be said to be ???individual???, but are instead dispersed among the social relations between the self and others, reflecting and transforming the values, competing desires, and the discourses that are prevalent in their social worlds. This is achieved through the discursive production of a web of narratives through which both individuals and institutions attempt to govern, with varying degrees of success, the implications of this relatively new field of knowledge.
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Genetic testing in the age of anxiety. From rhetoric to narrative.Leontini, Rose, School of Sociology, UNSW January 2005 (has links)
The debate on genetic testing for Huntington???s disease has been dominated heavily by the bioethical and biomedical discourses. Yet upon analysis, both discourses are highly inadequate for understanding the complexity of the difficult choices people are faced with, and the inter-personal relations that are central to decisions regarding the uptake of genetic tests. The purpose of this thesis is two-fold. Firstly, to conduct a theoretically-informed critical analysis of the existing bioethical discourse on genetic testing for Huntington???s disease, that draws primarily on the work of contemporary feminist thinkers. Secondly, to explore how people with a genetic risk for Huntington???s disease negotiate the available choices between certainty and uncertainty; how they experience the liminality of ???being at risk??? in everyday life; how they manage their social environments; and how they interpret their own situation. The matter of ???choice??? is heightened because of the ready availability of genetic testing for Huntington???s disease, and the moral rhetoric that accompanies the provision of genetic services. Empirically, the research draws on the narratives by eleven people with a family history of Huntington???s disease, through which they discuss their fears of living in the shadow of the fatal disease, and consider their choices on reproduction and genetic testing. Their narratives will be analysed through the work of Foucault and Goffman, as well as a wide range of contemporary sociologists.The thesis being proposed is that decisions on genetic testing cannot be said to be ???individual???, but are instead dispersed among the social relations between the self and others, reflecting and transforming the values, competing desires, and the discourses that are prevalent in their social worlds. This is achieved through the discursive production of a web of narratives through which both individuals and institutions attempt to govern, with varying degrees of success, the implications of this relatively new field of knowledge.
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Modulation of adult neurogenesis in mouse models of neurodegenerative diseaseUnknown Date (has links)
Adult neurogenesis is affected in neurodegenerative diseases and also represents an important therapeutic target. The goal of this dissertation research was to test the hypothesis that regeneration of neurons and glia in the adult brain can be manipulated by neurotrophic drugs in the context of two mouse models of neurodegenerative disease : Parkinson's disease and Huntington's disease.... These findings have implications for the pathophysiology of Huntington's disease and neurodegeneration in general. Specific alterations to the SVZ neurogenic niche parallel some of the pre-motor symptoms of Parkinson's disease and Huntington's disease. This dissertation research contributes to the growing body of literature concerning the pharmacological modulation of SVZ-derived neurogenesis designed to attenuate the progressive loss of neurons in neurodegenerative diseases and perhaps delay the onset of symptoms. / by Mark Harvey McCollum. / Vita. / Thesis (Ph.D.)--Florida Atlantic University, 2012. / Includes bibliography. / Mode of access: World Wide Web. / System requirements: Adobe Reader.
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The role of BimEL in the pathogenesis of Huntington's diseaseUnknown Date (has links)
Huntington's Disease (HD) is a devastating neurodegenerative disorder caused by an expanded polyglutamine repeat within the Huntingtin gene IT15. In this study we demonstrated that Bcl-2 interacting mediator of cell death Extra Long (BimEL) protein expression was significantly increased in cells expressing mutant Huntingtin (mHtt). Moreover, striatal BimEL expression remained high in an R6/2 HD mouse model throughout the disease progression. Utilizing novel BimEL phospho-mutants we demonstrated the phosphorylation of Ser65 to be important for the stabilization of BimEL. We provided evidence that impaired proteasome function, increased JNK activity and reduced striatal BDNF lead to changes in the phosphorylation of BimEL, thereby promoting its stabilization specifically within the striatum of R6/2 mice. Furthermore, knocking down BimEL expression prevented mHtt-induced cell death in a HD cell culture. Taken together, these findings suggest that BimEL may contribute to the selective neurodegeneration and pathogenesis of HD. / by Rebecca Leon. / Thesis (Ph.D.)--Florida Atlantic University, 2012. / Includes bibliography. / Mode of access: World Wide Web. / System requirements: Adobe Reader.
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