A center for diagnosing rare and undiagnosed diseases using advanced genomic techniques
Official title: Mount Sinai Center for Undiagnosed Diseases
Funded at Icahn School of Medicine at Mount Sinai · NIH-10979318 · Data updated 2026-11-12
This study is creating a special center at Mount Sinai to help people with rare and hard-to-diagnose diseases by using advanced technology to find out what might be causing their health issues, and it's designed to make sure everyone has access to these new tools.
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 start | August 1, 2024 |
| Project end | July 31, 2028 |
| Funding year | 2024 |
| Award (this year) | $822,709 |
| NIH project number | 1U01NS139213-01 |
| Project ID | NIH-10979318 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals aged 21 and older with rare, undiagnosed disorders who have not found answers through previous medical evaluations.
✕Less likely to help
Patients with well-defined and diagnosed conditions may not benefit from this research.
What this research studies
This research focuses on establishing a Diagnostic Center of Excellence at Mount Sinai to help patients with rare and undiagnosed diseases. The center will utilize advanced genomic techniques, including artificial intelligence and long-read genome sequencing, to identify genetic variants that may be causing these conditions. Patients will be assessed by a multidisciplinary team of experts in genetics and medicine, who will analyze their genomic data to provide accurate diagnoses. The program aims to engage diverse communities and ensure equitable access to cutting-edge diagnostic tools.
Why it matters
Potential benefit: If successful, this research could lead to accurate diagnoses for patients with rare diseases, improving their treatment options and quality of life.
How similar studies have gone: Previous research has shown success in using genomic approaches and AI for diagnosing rare diseases, indicating that this approach is promising.
Where this research is happening
-
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.