Stanford Center for Undiagnosed Diseases
Center for Undiagnosed Diseases at Stanford
Provides advanced genetic, laboratory, and clinical testing and support for people of any age who still lack a diagnosis for their medical condition.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Stanford University NIH-funded |
| Lab location | 1 site (Stanford, United States) |
| Project ID | NIH-11158921 on NIH RePORTER |
What this research studies
If you have an unexplained medical condition after standard testing, this center offers advanced genomic sequencing, laboratory (including cellular) testing, and detailed clinical evaluations to look for candidate disease genes and causes. The team combines bioinformatics and clinical expertise to interpret results and recommend clinical pathways or follow-up testing. They work with patient advisors and community partners to identify and reduce barriers to participation, especially for underserved populations. Some parts of the work can be done with samples or records sent from afar, but in-person visits to Stanford may be needed for full evaluations.
Who could benefit from this research
Good fit: People (including children) who have had standard medical workups but remain undiagnosed and who are willing to provide medical records, biological samples, and participate in clinical evaluations are ideal candidates.
Not a fit: People who already have a clear diagnosis, who cannot provide samples or medical records, or who are unable to travel or participate in evaluations may not receive direct benefit.
Why it matters
Potential benefit: This program could provide a long-sought diagnosis and connect you to more targeted care, resources, or research opportunities.
How similar studies have performed: Centers in the Undiagnosed Diseases Network and similar programs have successfully diagnosed many previously unexplained conditions using genomics and functional testing, though some cases remain unsolved.
Where this research is happening
Stanford, United States
- Stanford University — Stanford, United States (Active)
Researchers
- Principal investigator: Wheeler, Matthew Thomas — Stanford University
- Study coordinator: Wheeler, Matthew Thomas
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 below.