A network to diagnose rare diseases in children in Southern California
Official title: Southern California Undiagnosed Disease Network
Funded at University of California-Irvine · NIH-10979427 · Data updated 2026-11-12
This study is working to help kids with rare diseases get the right diagnosis faster by teaming up with experts and local health partners, so they can receive the care they need.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California-Irvine NIH-funded |
| Lab location | 1 site (Irvine, United States) |
| Project start | August 1, 2024 |
| Project end | July 31, 2028 |
| Funding year | 2024 |
| Award (this year) | $817,856 |
| NIH project number | 1U01NS139215-01 |
| Project ID | NIH-10979427 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children aged 0-11 years who are experiencing undiagnosed medical conditions.
✕Less likely to help
Patients with well-defined diagnoses or those outside the age range of 0-11 years may not benefit from this research.
What this research studies
This research aims to improve the diagnosis of rare diseases in children by leveraging the expertise of UC Irvine and Children's Hospital of Orange County. It focuses on providing comprehensive evaluations for patients with undiagnosed conditions, utilizing advanced clinical testing and data science. The project will create a regional hub that collaborates with community health partners to serve medically underserved populations, ensuring that patients receive timely and accurate diagnoses. By collecting detailed genetic and phenotypic data, the initiative seeks to enhance understanding and treatment options for these complex conditions.
Why it matters
Potential benefit: If successful, this research could lead to faster and more accurate diagnoses for children with rare diseases, improving their quality of life.
How similar studies have gone: Similar initiatives have shown promise in improving diagnostic processes for rare diseases, indicating that this approach could be effective.
Where this research is happening
-
University of California-Irvine
Irvine, United States Active
Researchers
- Principal investigator: Vilain, Eric J. — University of California-Irvine
- Study coordinator: Vilain, Eric J.
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.