A center for diagnosing rare and undiagnosed diseases using advanced genomic techniques
Mount Sinai Center for Undiagnosed Diseases
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 ID | NIH-10979318 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals aged 21 and older with rare, undiagnosed disorders who have not found answers through previous medical evaluations.
Not a fit: Patients with well-defined and diagnosed conditions may not benefit from this research.
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 performed: 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
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.