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Imaging and Genetics of Two Amyloid Related Diseases: Alzheimers Disease and Down Syndrome

Alzheimers Disease is an irreversible, degenerative disease of the brain that accounts for a majority of dementia cases each year, in both the general population and in patients with Down Syndrome. The advancement of in vivo imaging modalities that detect the neuropathologies associated with both Down Syndrome and Alzheimers Disease present new opportunities to explore these diseases in living human subjects. Imaging biomarkers not only permit earlier, more accurate patient diagnosis, but quantitative, neuropathology-based traits derived from imaging modalities offer increased power to detect associations with large-scale genetic data. This field of investigation has been termed imaging genetics. Imaging genetics studies aim to identify novel risk genes and elucidate gene function and novel mechanisms of disease pathology and etiology. In this dissertation, I have conducted imaging genetics studies of the neuropathologies of Alzheimers Disease and Down Syndrome in order to increase our understanding of the genetic etiology underlying these pathologies. Furthermore, new biomarkers of these pathologies are still needed. Thus, a magnetic resonance imaging sequence which has been shown to detect amyloid beta plaque in mice is explored in human studies in this dissertation. This work contributes novel findings to the body of research aimed at early identification of patients at risk of Alzheimers Disease.

Identiferoai:union.ndltd.org:VANDERBILT/oai:VANDERBILTETD:etd-02072014-094006
Date20 February 2014
CreatorsKoran, Mary Ellen Irene
ContributorsChun Li, Tricia Thornton-Wells, Jonathan Haines, Dana Crawford, Brian Welch
PublisherVANDERBILT
Source SetsVanderbilt University Theses
LanguageEnglish
Detected LanguageEnglish
Typetext
Formatapplication/pdf
Sourcehttp://etd.library.vanderbilt.edu/available/etd-02072014-094006/
Rightsunrestricted, I hereby certify that, if appropriate, I have obtained and attached hereto a written permission statement from the owner(s) of each third party copyrighted matter to be included in my thesis, dissertation, or project report, allowing distribution as specified below. I certify that the version I submitted is the same as that approved by my advisory committee. I hereby grant to Vanderbilt University or its agents the non-exclusive license to archive and make accessible, under the conditions specified below, my thesis, dissertation, or project report in whole or in part in all forms of media, now or hereafter known. I retain all other ownership rights to the copyright of the thesis, dissertation or project report. I also retain the right to use in future works (such as articles or books) all or part of this thesis, dissertation, or project report.

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