Understanding how RNA splicing affects gene expression and disease
Revealing molecular determinants of transcript-specific regulation in pre-mRNA splicing via rapid in vivo kinetic rate measurements
This study is looking at how our cells correctly edit genes, which is important for our health, and it aims to help people understand how mistakes in this process can lead to diseases.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cornell University NIH-funded |
| Lab location | 1 site (Ithaca, United States) |
| Project ID | NIH-10805426 on NIH RePORTER |
What this research studies
This research investigates the mechanisms of pre-messenger RNA (pre-mRNA) splicing, which is crucial for gene expression in humans and other eukaryotes. By examining how the spliceosome, the molecular machine responsible for splicing, distinguishes between correct and incorrect splice sites, the study aims to uncover the regulatory elements involved in this process. The approach involves advanced kinetic measurements to analyze splicing dynamics in living cells, providing insights into how splicing errors can lead to various diseases. Patients may benefit from a deeper understanding of the genetic factors that contribute to their conditions.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with genetic disorders associated with alternative splicing mutations.
Not a fit: Patients with conditions unrelated to RNA splicing or gene expression may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new strategies for diagnosing and treating diseases linked to splicing errors.
How similar studies have performed: Previous research has shown promising results in understanding RNA splicing mechanisms, indicating that this approach could yield valuable insights.
Where this research is happening
Ithaca, United States
- Cornell University — Ithaca, United States (Active)
Researchers
- Principal investigator: Pleiss, Jeffrey a — Cornell University
- Study coordinator: Pleiss, Jeffrey a
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.