Urine-derived cells to help diagnose undiagnosed rare diseases
Official title: Urine-Derived Cell RNA Sequencing to Improve Diagnosis in Undiagnosed UDN Participants.
Funded at Baylor College of Medicine · NIH-11536611 · Data updated 2026-11-12
This project checks whether RNA sequencing from urine cells can reveal disease-causing gene changes in people with rare, undiagnosed conditions when blood or tissue samples aren’t helpful.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project start | July 1, 2014 |
| Project end | July 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $160,000 |
| NIH project number | 3U01NS134348-12S2 |
| Project ID | NIH-11536611 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with undiagnosed rare diseases who have not yet received a molecular diagnosis after standard genomic testing and for whom urine-derived cell RNA-seq could be feasible.
✕Less likely to help
Patients whose conditions do not show RNA-level changes in urine-derived cells or who cannot provide suitable urine samples may not benefit.
What this research studies
Many people with rare diseases remain without a diagnosis after standard genetic testing. This study uses RNA sequencing on urine-derived cells to find abnormal gene activity that may be missed by DNA testing alone, offering a non-invasive option. Researchers will culture urine cells, perform transcriptome analysis, and explore methods to unmask hidden transcripts that could point to a diagnosis. The plan focuses on about 20 undiagnosed participants from the Undiagnosed Diseases Network who lacked usable RNA samples. If successful, this approach could broaden access to RNA-based insights without invasive procedures.
Why it matters
Potential benefit: If successful, patients with undiagnosed rare diseases may receive clearer diagnoses and better-guided management from non-invasive RNA data.
How similar studies have gone: Preliminary data show reproducible RNA-seq performance from urine-derived cells and good coverage of disease-relevant genes, supporting potential utility.
Where this research is happening
-
Baylor College of Medicine
Houston, United States Active
Researchers
- Principal investigator: Lee, Brendan — Baylor College of Medicine
- Study coordinator: Lee, Brendan
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.