Cerebrospinal fluid (CSF) real-time quaking induced conversion (RT-QuIC) is a highly sensitive and specific test used to diagnose prion disease. Approximately 10% of prion diseases generate a false negative CSF RT-QuIC test result and these cases have specific characteristics including certain prion disease subtypes, younger age of disease onset, and CSF sample discoloration.
Improving the sensitivity of the CSF RT-QuIC test would improve the diagnosis of human prion disease, especially in genetic and rare sporadic prion disease subtypes that most often result in false negative CSF RT-QuIC results today.
Our study aims to improve the overall performance of the currently used RT-QuIC test for diagnosing prion disease by further examining autopsy-confirmed cases of prion disease that generated indeterminate CSF RT-QuIC results. Historical data from the National Prion Disease Pathology Surveillance Center will be analyzed to identify trends, patterns, and relationships that will guide testing protocol adjustments to optimize CSF RT-QuIC sensitivity. Prior false negative RT-QuIC cases will be re-tested after making the changes to the test method to see if there is any performance improvement.
About the Researcher:
Jaime Noguez, PhD
National Prion Disease Pathology Surveillance Center, Case Western Reserve University, University Hospitals Cleveland Medical Center, Cleveland, OH
Dr. Jaime Noguez received her PhD from the University of South Florida. Her postdoctoral training included the completion of a Clinical Chemistry Fellowship at Emory University. She is board certified by the American Board of Clinical Chemistry with extensive knowledge and experience in the development, validation, and clinical implementation of high complexity laboratory tests on a variety of human sample types (blood, urine, cerebrospinal fluid, etc). Dr. Noguez is currently the Section Head of the CSF testing lab at the National Prion Disease Pathology Surveillance Center at Case Western Reserve University as well as the Section Head of Clinical Chemistry and Diagnostic Immunology at University Hospitals Cleveland Medical Center. Her research interests include the development and application of new laboratory-based diagnostics to improve patient care and exploring disruptive technologies to take laboratory medicine to the next level.
- The Michael H. Cole Memorial Research Grant, contributed by Jeanne Cole
- The Harvey L. Hall Memorial Grant, contributed by Lavonne C. Hall
- The Eugene A. Riedel Memorial Research Grant, contributed by Jacqueline Riedel
- The Tom Stivison Memorial Research Grant, contributed by Sandra (Cookie) Stivison
- The CJD Foundation Grant, contributed by the Families of the CJD Foundation