Genetic Underpinnings Of Tremor Disorders
Posted Date: Sep 27, 2022
- Investigator: Luca Marsili
- Specialties:
- Type of Study: Observational/Survey
The recent advances in the fields of genetics with long-read sequencing (LRS) technologies have now reached a high level of accuracy and yield that allows their application to variant detection at a scale of tens to thousands of samples. Current LRS platforms and variant calling algorithms allow the detection and validation of new variants that were impossible to detect only a few years ago. For this purpose, we plan to study a cohort of patients with tremor disorders, with particular attention to those with familiar inheritance, and analyze their DNA through the most recent techniques based on the LRS and whole genomic sequencing (WGS) analyses
Criteria:
Patients With A Clinical Diagnosis Of Tremor Disorder, And Affected Or Unaffected Relatives (Any Degree) Of Patients Already Enrolled In The Study (And Thought To Be Carriers Of Possible Pathogenic Variants) Will Be Enrolled In The Study.
Keywords:
Essential Tremor, Long-Read Sequencing, Genetics
For More Information:
Luca Marsili
5135582003
marsilla@ucmail.uc.edu