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: | Cyril Pottier |
| Institution: | VIB |
| Department: | CMN |
| Country: | |
| Proposed Analysis: | We study frontotemporal dementia (FTD) and early-onset Alzheimer’s disease (EOAD). Due to the complex phenotypic presentation of FTD, patients are often misdiagnosed for AD. We hypothesize that patients with AD and FTD share common genetics factor. We generated whole genome sequencing data from 517 FTD patients and 838 controls and recently demonstrated that genetic variants at the HLA locus, on top of being associated with AD, are associated with FTD. This adds to the growing body of genetic factors that are associated with both disease such as TREM2, MAPT, GRN and C9ORF72. We have now extended our cohort of whole genome sequenced FTD and controls. We are requesting access to the ADSP sequence data to i) combine our own generated next-generation sequencing data with the publicly available sequencing data for both novel risk variant detection and gene-based analysis; ii) query the ADSP control and AD patient data set for variants that we have found as associated with FTD risk; and ii) to perform gene-based association analysis in ADSP data with candidate FTD/ALS genes to determine the impact of these genes across dementias. Single variants as well as structural variants will be assessed. The phenotypic outcome measure we would use is absence or presence of AD, as well as age at onset, age at diagnosis or age at study inclusion where available. Our work builds on the hypothesis that Alzheimer’s disease and related dementias have common pathways underlying their pathology and therefore it is highly relevant to patients with Alzheimer’s disease to study our candidate genes in the ADSP data set. Please note that our studies do not include the study of population origins or ancestry. |
| Additional Investigators |
