This study (UAB IRB study title: Evaluation of Genomic Variants in Patients with Neurologic Diseases) is to evaluate patients with early onset and/or atypical neurodegenerative diseases that are suspected to have a genetic component using whole genome sequencing. In addition, relatives of probands are also sequenced when available. A total of 61 patients were sequenced. When a diagnostic genetic variant is identified, the result is validated with clinical sanger and the result is returned to the patient. Patients for which a diagnostic variant is not identified are available for analysis in larger case-control studies if consent is given to do so.
Access to Whole Genome sequencing data is available through an approved NIAGADS application. Once approved, the dataset will be transferred via S3/FTP or external hard drive, as the size exceeds 15TB.
The results published here are in whole or part based upon data generated by the HudsonAlpha Institute for Biotechnology and the University of Alabama at Birmingham and supported by the Daniel Foundation of Alabama and the HudsonAlpha Memory & Mobility Fund.