A resource initiative to improve diagnosis and treatment of immune system disorders.
Official title: New York Regional Inborn Errors of Immunity Resource Initiative League (NY-ROYAL)
Funded at Columbia University Health Sciences · NIH-10917020 · Data updated 2026-11-12
This study is helping people with rare immune system disorders by connecting them to expert labs that can better understand their genetic test results, so they can get the right diagnosis and treatment faster.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | September 1, 2023 |
| Project end | August 31, 2028 |
| Funding year | 2024 |
| Award (this year) | $820,780 |
| NIH project number | 5R24AI167802-02 |
| Project ID | NIH-10917020 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with inborn errors of immunity who have genetic variants that are currently classified as unknown significance.
✕Less likely to help
Patients with well-characterized immune disorders that do not involve genetic variants of unknown significance may not benefit from this research.
What this research studies
This research focuses on inborn errors of immunity (IEI), which are rare immune system disorders affecting 1 in 10,000 individuals. The project aims to establish a regional resource that connects patients with variants of unknown significance (VUSs) in their genetic testing to specialized laboratories for further evaluation. By facilitating case reviews and targeted assessments, the initiative seeks to improve the accuracy of genetic diagnoses and enable timely treatments such as bone marrow transplantation or gene therapy. This approach leverages advancements in genome sequencing to address the challenges of interpreting complex genetic data.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and effective treatments for patients with inborn errors of immunity.
How similar studies have gone: Other research has shown success in utilizing genetic sequencing and bioinformatics to improve diagnosis and treatment of rare genetic disorders, indicating that this approach is promising.
Where this research is happening
-
Columbia University Health Sciences
New York, United States Active
Researchers
- Principal investigator: Milner, Joshua D. — Columbia University Health Sciences
- Study coordinator: Milner, Joshua D.
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.