Analyzing genomes and gene activity in patients with rare diseases
Official title: Integrative analysis of whole genomes and transcriptomes from multiple cell types in rare disease patients
Funded at Icahn School of Medicine at Mount Sinai · NIH-11047697 · Data updated 2026-11-12
This study is looking at the genes and how they work in people with rare diseases to find new causes that might help doctors diagnose and treat these conditions better.
Quick facts
| Grant type | R01 grant |
|---|---|
| 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 | May 15, 2023 |
| Project end | February 29, 2028 |
| Funding year | 2025 |
| Award (this year) | $591,630 |
| NIH project number | 5R01HL161365-03 |
| Project ID | NIH-11047697 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with rare diseases, particularly those with unexplained genetic causes.
✕Less likely to help
Patients with common diseases or those whose conditions have well-established genetic causes may not benefit from this research.
What this research studies
This research investigates the genetic and molecular underpinnings of rare diseases by analyzing whole genomes and gene activity from various blood cell types in affected patients. By utilizing advanced statistical and computational methods, the study aims to identify novel genetic causes that are often missed by traditional sequencing techniques. The research will focus on a well-characterized group of rare disease patients, leveraging their genomic and transcriptomic data to enhance understanding of these complex conditions. This approach may lead to improved diagnostic capabilities and targeted therapies for patients with rare diseases.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and personalized treatment options for patients with rare diseases.
How similar studies have gone: Previous research has shown promise in using genomic and transcriptomic analyses to uncover genetic causes of rare diseases, indicating that this approach has potential for success.
Where this research is happening
-
Icahn School of Medicine at Mount Sinai
New York, United States Active
Researchers
- Principal investigator: Turro, Ernest — Icahn School of Medicine at Mount Sinai
- Study coordinator: Turro, Ernest
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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.