There are many active research projects accessing and applying shared ADNI data. Use the search above to find specific research focuses on the active ADNI investigations. This information is requested annually as a requirement for data access.
| Principal Investigator | |
| Principal Investigator's Name: | Lien Nguyen |
| Institution: | University of Florida |
| Department: | Molecular Genetics and Microbiology |
| Country: | |
| Proposed Analysis: | In this study, we test a hypothesis that novel repeat expansion mutations are associated with a subset of Alzheimer’s disease cases. The identification of repeat expansion mutations that preferentially associate with AD would provide novel insights into AD genetics and strategies for disease diagnosis and therapeutic development and accelerate research to advance our understanding of disease mechanisms. Methodology: We will screen known and novel repeat expansion mutations using genomic DNA samples to determine frequencies of the expansion mutations in AD and cognitively normal control populations. Repeat primed PCR, Southern blot, and/or long-read sequencing experiments will be conducted for genotyping repeat expansion mutation and studying repeat length and content. We will analyze patient's clinical data and genetic characteristics to study if repeat expansion mutations associate with clinical features of disease. |
| Additional Investigators | |
| Investigator's Name: | Laura Ranum |
| Proposed Analysis: | In this study, we test a hypothesis that novel repeat expansion mutations are associated with a subset of Alzheimer’s disease cases. The identification of repeat expansion mutations that preferentially associate with AD would provide novel insights into AD genetics and strategies for disease diagnosis and therapeutic development and accelerate research to advance our understanding of disease mechanisms. Methodology: We will screen known and novel repeat expansion mutations using genomic DNA samples to determine frequencies of the expansion mutations in AD and cognitively normal control populations. Repeat primed PCR, Southern blot, and/or long-read sequencing experiments will be conducted for genotyping repeat expansion mutation and studying repeat length and content. We will analyze patient's clinical and genetic data to study if repeat expansion mutations associate with clinical features of disease. |
