Understanding how ribosomal RNA modifications in nucleoli relate to diseases.
Official title: Ribosomal RNA modification in nucleoli and disease
Funded at Albert Einstein College of Medicine · NIH-11175791 · Data updated 2026-11-12
This study is looking at tiny parts of our cells called nucleoli, which help make important building blocks for proteins, to understand how problems with them might lead to inherited diseases like dyskeratosis congenita, so that patients can learn more about their condition and how it works.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Albert Einstein College of Medicine NIH-funded |
| Lab location | 1 site (Bronx, United States) |
| Project start | September 13, 2024 |
| Project end | August 31, 2025 |
| Funding year | 2024 |
| Award (this year) | $755,156 |
| NIH project number | 1R56HL173197-01 |
| Project ID | NIH-11175791 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with inherited conditions such as dyskeratosis congenita or other disorders related to ribosome biogenesis.
✕Less likely to help
Patients with conditions unrelated to ribosomal RNA modifications or nucleolar function may not benefit from this research.
What this research studies
This research investigates the role of nucleoli, which are essential cellular structures responsible for producing ribosomes, in the context of various diseases. The team will explore how the dense fibrillar component of the nucleolus forms and its significance in the modification and processing of ribosomal RNA. By studying specific proteins involved in this process, the researchers aim to uncover the mechanisms that lead to proper ribosome biogenesis and how disruptions in these processes can contribute to inherited diseases like dyskeratosis congenita. Patients may benefit from insights gained into the molecular underpinnings of their conditions.
Why it matters
Potential benefit: If successful, this research could lead to a better understanding of diseases linked to ribosome dysfunction, potentially informing new treatment strategies.
How similar studies have gone: Previous research has shown promising results in understanding ribosome biogenesis and its implications for disease, suggesting that this approach has the potential for significant findings.
Where this research is happening
-
Albert Einstein College of Medicine
Bronx, United States Active
Researchers
- Principal investigator: Meier, U Thomas — Albert Einstein College of Medicine
- Study coordinator: Meier, U Thomas
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.