New York regional program for rare immune disorders (NY-ROYAL)
New York Regional Inborn Errors of Immunity Resource Initiative League (NY-ROYAL)
This program helps people with rare immune problems and unclear genetic test results get matched with labs that can run targeted tests to clarify diagnosis and guide care.
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 ID | NIH-11162341 on NIH RePORTER |
What this research studies
Inborn errors of immunity are rare genetic conditions where finding the exact genetic cause can change treatment options, including curative approaches like bone marrow transplant or gene therapy. NY-ROYAL will build a coordinated New York-area network to review difficult genetic cases and connect clinicians and patients who have variants of unknown significance (VUS) with labs that can perform targeted functional tests and advanced bioinformatic analyses. The effort streamlines how sequencing results are interpreted so VUS can be reclassified more quickly into clear diagnoses. The program also channels clinically important questions back to research labs to develop new tests and improve future patient care.
Who could benefit from this research
Good fit: People with suspected inborn errors of immunity or who have genetic test results showing variants of unknown significance—particularly those receiving care in the New York region—would be the best fit.
Not a fit: Patients without suspected IEI, without relevant genetic variants, those unable to access regional care, or those whose variants cannot be resolved by available tests may not benefit directly.
Why it matters
Potential benefit: If successful, this could shorten time to a genetic diagnosis and open access to curative treatments or precision therapies for people with inborn errors of immunity.
How similar studies have performed: Targeted functional testing and advanced sequence analysis have led to variant reclassification and diagnoses at other centers, but creating a formal regional matching network like this is a newer approach.
Where this research is happening
New York, United States
- 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 below.