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Principal Investigator  
Principal Investigator's Name: Arsen Arakelyan
Institution: Institute of Molecular Biology NAS Armenia
Department: Bioinformatics
Country:
Proposed Analysis: Spasmodic dysphonia (SD) is task-specific focal dystonia with an implied existence of genetic risk factors. Our study aims to identify genetic factors associated with brain abnormalities in SD and compare them to those in Alzheimer's disease (AD). We have performed quantitative trait locus analysis (QTLA) linking the cortical thickness measures from sMRI to the single nucleotide polymorphism data of 120 SD patients obtained with whole-exome sequencing. Several potential regions were found in the QTLA. We would like to request access to the ADNI database to perform the comparative analysis of SD with AD as well as the healthy control group since published data suggest the overlap between AD and SD risk alleles at some chromosomal loci. We will overlap SNPs available in both ours and AD datasets (to obtain a list of common SNPs) and run QTLA with PLINK against 150 sMRI regions mapped with FreeSurfer in our SD group.
Additional Investigators  
Investigator's Name: Arman Simonyan
Proposed Analysis: We will overlap SNPs available in both ours and AD datasets (to obtain a list of common SNPs) and run QTLA with PLINK against 150 sMRI regions mapped with FreeSurfer in our SD group.