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RNA to the RESCUE: Evaluation to Assess the Clinical Utility of RNA Sequencing in Establishing a Genetic Diagnosis or Adjudicating a Previously Established Genetic Diagnosis.
Sponsor: University of California, San Francisco
Summary
The goal of this observational study is to see if ribonucleic acid (RNA) sequencing can improve the diagnostic yield and accuracy of genetic testing compared to gene sequencing alone. Participants will be asked to share their medical history and prior genetic testing results, and to donate a blood sample for testing.
Official title: RNAseq for the Evaluation of Splicing and Cryptic or Unrecognized Effects
Key Details
Gender
All
Age Range
2 Years - Any
Study Type
OBSERVATIONAL
Enrollment
100
Start Date
2025-08-06
Completion Date
2030-12
Last Updated
2026-08-26
Healthy Volunteers
No
Conditions
Interventions
RNA sequencing
Total RNA will be isolated from blood samples, processed, and analyzed to compare the RNA-Seq profile of each participant.
Locations (1)
University of California, San Francisco
San Francisco, California, United States