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: | Owen Ross |
| Institution: | Mayo Clinic Jacksonville |
| Department: | Neuroscience |
| Country: | |
| Proposed Analysis: | Our research focusses on genetics of Parkinsonism and related disorders. We are most interested in ADNI’s 267 control genetic data (whole genome sequencing and genome-wide microarray data) and relevant clinical data (age, gender, etc.). There are currently three projects for which we would like to use this data. 1. The first project involves the capture and re-sequencing of Parkinson’s Disease (PD) genome-wide association studies (GWAS) loci. We are using Agilent Haloplex and SureSelect platforms to target the MAPT and LRRK2 genomic regions including introns, exons and 10kb upstream and downstream. We have sequenced 300 cases and 300 controls for MAPT and we are in the process of sequencing 300 cases and 100 controls for LRRK2. We would like to extract all variant data of ADNI’s controls in these regions (from vcf files). We would use this data as an external control group to validate our Next-Generation sequencing data and perform association tests to identify those variants in the GWAS loci that are associated with susceptibility to PD. 2. The second project concerns multiple system atrophy (MSA), a rare sporadic neurodegenerative disorder. We have a 155 MSA patient series (97 pathologically confirmed MSA and 58 clinically diagnosed MSA). We will use whole exome sequencing techniques to sequence all patients and we want to compare the results with those of ADNI control subjects to identify variant increasing risk of MSA. In parallel, we are using GWAS microarray to identify microdeletions in MSA and compare the frequency to that of controls subjects (ADNI chip data) and identify whether homozygous microdeletions cause MSA or not. 3. The third project is to find novel genes involved both in Parkinson’s disease and essential tremor families. At the present moment we have whole genome data for four Parkinson’s disease families and exome data for more than 35 Parkinson’s disease and essential tremor families. We are interested in having access to the 267 control subjects genetic data of the ADNI project to use them as a control population, not only to rule out rare variants from our families based on the variants of the vcf files, but also to use the control subjects’ bam files to compare certain regions with our data to exclude possible copy number variants based on the expected and real coverage of these regions. |
| Additional Investigators |
