A center to diagnose undiagnosed diseases
Yale Diagnostic Center of Excellence for Undiagnosed Diseases
The Yale Diagnostic Center of Excellence is working to help people and families who have mysterious health issues by using advanced technology to find answers, especially for those who might not have easy access to care, and they’re also training local healthcare providers to improve the whole experience for patients.
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-10980039 on NIH RePORTER |
What this research studies
The Yale Diagnostic Center of Excellence aims to identify and diagnose undiagnosed diseases that affect many individuals and families. By utilizing advanced techniques like next-generation sequencing and bioinformatics, the center will work closely with community healthcare organizations to provide access to diagnostic services, especially for underserved populations. Patients will undergo a tiered evaluation process to enhance the chances of receiving a diagnosis, and the center will also offer training to community healthcare providers. This collaborative approach seeks to improve the overall patient experience and increase diagnostic yields for rare diseases.
Who could benefit from this research
Good fit: Ideal candidates include individuals with undiagnosed diseases, particularly those from economically disadvantaged backgrounds or minority groups.
Not a fit: Patients with well-defined diagnoses or those who do not meet the criteria for participation in the Undiagnosed Diseases Network may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to accurate diagnoses for patients with previously undiagnosed conditions, improving their treatment and quality of life.
How similar studies have performed: Previous initiatives within the Undiagnosed Diseases Network have shown success in diagnosing rare conditions, indicating that this approach is promising.
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.