Understanding how changes in spliceosome function affect diseases
Genomics-based approaches to understanding mechanistic alterations of spliceosome function in disease states
This study is looking at how changes in a part of our cells called the spliceosome can lead to diseases like cancer and genetic disorders, and it aims to help us understand these changes better so we can find new ways to treat these conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Rochester NIH-funded |
| Lab location | 1 site (Rochester, United States) |
| Project ID | NIH-11010367 on NIH RePORTER |
What this research studies
This research investigates how mutations and changes in the spliceosome, a complex responsible for gene splicing, contribute to diseases like cancer and genetic disorders. By using a genetically stable cell system, researchers will model specific genetic alterations to observe their effects on gene expression and splicing events. This approach aims to identify which splicing changes are linked to disease and how they operate at a molecular level, potentially leading to new insights into disease mechanisms.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with genetic disorders or cancers that are known to involve splicing factor mutations.
Not a fit: Patients whose conditions are unrelated to spliceosome function or splicing alterations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and treatment options for patients with genetic diseases and cancers linked to spliceosome dysfunction.
How similar studies have performed: Previous research has shown promising results in understanding spliceosome function and its implications in various diseases, indicating that this approach has potential for success.
Where this research is happening
Rochester, United States
- University of Rochester — Rochester, United States (Active)
Researchers
- Principal investigator: Boutz, Paul Lawrence — University of Rochester
- Study coordinator: Boutz, Paul Lawrence
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.