Mount Sinai Center for Undiagnosed Conditions
Mount Sinai Center for Undiagnosed Diseases
This program offers advanced genetic testing and expert team evaluations for children and adults with rare, unexplained health problems.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11158880 on NIH RePORTER |
What this research studies
You would work with a multidisciplinary team at Mount Sinai that uses exome, genome, and RNA sequencing plus long-read sequencing and AI-based tools to find genetic causes of unexplained illnesses. The center builds on Mount Sinai’s existing Undiagnosed Disease Program and partners with the Undiagnosed Diseases Network to review complicated cases. If a promising genetic change is found, the team may do functional studies using models like fruit flies to help show whether a variant causes disease. The program plans to enroll about 35–50 pediatric and adult patients per year for clinical visits and genomic testing in the Mount Sinai Clinical Research Unit.
Who could benefit from this research
Good fit: Children and adults who have a suspected genetic rare disorder that remains undiagnosed despite prior testing and who can provide records and travel to Mount Sinai are ideal candidates.
Not a fit: People whose condition is clearly non-genetic or already fully explained by prior testing, or those unable/unwilling to participate in clinic visits or sample collection, may not benefit.
Why it matters
Potential benefit: If successful, this work could lead to a diagnosis or clearer genetic explanation that guides treatment, monitoring, or family planning.
How similar studies have performed: Other Undiagnosed Diseases Network centers and Mount Sinai’s own program have a track record of diagnosing previously unsolved cases, so this approach builds on proven methods rather than being entirely experimental.
Where this research is happening
New York, United States
- Icahn School of Medicine at Mount Sinai — New York, United States (Active)
Researchers
- Principal investigator: Gelb, Bruce D — Icahn School of Medicine at Mount Sinai
- Study coordinator: Gelb, Bruce 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.