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Title page for ETD etd-02072014-094006

Type of Document Dissertation
Author Koran, Mary Ellen Irene
Author's Email Address maryellen.i.koran@vanderbilt.edu
URN etd-02072014-094006
Title Imaging and Genetics of Two Amyloid Related Diseases: Alzheimer’s Disease and Down Syndrome
Degree PhD
Department Human Genetics
Advisory Committee
Advisor Name Title
Jonathan Haines Committee Chair
Brian Welch Committee Member
Chun Li Committee Member
Dana Crawford Committee Member
Tricia Thornton-Wells Committee Member
  • imaging
  • genetics
  • amyloid
  • alzheimers
  • aging
  • down
  • downs
  • MRI
  • PET
Date of Defense 2013-12-13
Availability unrestricted
Alzheimer’s 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 Alzheimer’s 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 Alzheimer’s 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 Alzheimer’s Disease.
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