Description

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. 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.

Principal Investigators

Richard Myers
Hudson Alpha
Erik Roberson
University of Alabama
Nicholas (Nick) Cochran
Hudson Alpha

Funding Sources

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.

Publications

  • Wright CA. Contributions of rare and common variation to early-onset and atypical dementia risk. Cold Spring Harbor molecular case studies. 2023 Jun. PubMed link