Yale Center for Diagnosing Rare and Unexplained Conditions
Yale Diagnostic Center of Excellence for Undiagnosed Diseases
This program helps people with rare or unexplained health problems get advanced genetic testing and expert diagnostic evaluation.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project ID | NIH-11146760 on NIH RePORTER |
What this research studies
If you join, the Yale Diagnostic Center will work with you and community clinics to expand access to expert evaluations and next-generation genetic testing. We use advanced bioinformatics and follow-up lab work, including functional experiments, to search for genetic causes when standard tests come up short. The center partners with community health organizations to reach underinsured and minority patients and provides training to local clinicians. We will also try new ways to make enrollment and the patient experience faster and easier.
Who could benefit from this research
Good fit: Ideal candidates are people with unexplained symptoms or suspected rare genetic conditions who have not yet received a definitive diagnosis, including those from underserved or underinsured communities.
Not a fit: People with a clear, established diagnosis or conditions not suspected to have a genetic basis are unlikely to benefit from this program.
Why it matters
Potential benefit: If successful, this could lead to more accurate diagnoses for people with undiagnosed or rare conditions, enabling better-targeted care and management.
How similar studies have performed: Other Undiagnosed Diseases Network centers have successfully diagnosed many patients using sequencing, bioinformatics, and functional testing, so this builds on proven methods.
Where this research is happening
New Haven, United States
- Yale University — New Haven, United States (Active)
Researchers
- Principal investigator: Jiang, Yong-Hui — Yale University
- Study coordinator: Jiang, Yong-Hui
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.