How cells edit gene messages before making proteins
Official title: Biochemistry of Pre-mRNA Splicing
Funded at Cold Spring Harbor Laboratory · NIH-11285280 · Data updated 2026-11-12
This project is learning how human cells cut and join RNA messages to control which proteins are produced, with the goal of helping people with genetic diseases caused by splicing errors like Duchenne muscular dystrophy.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cold Spring Harbor Laboratory NIH-funded |
| Lab location | 1 site (Cold Spring Harbor, United States) |
| Project start | July 1, 1989 |
| Project end | February 28, 2027 |
| Funding year | 2026 |
| Award (this year) | $806,400 |
| NIH project number | 5R01GM042699-35 |
| Project ID | NIH-11285280 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with genetic disorders caused by abnormal RNA splicing—such as Duchenne muscular dystrophy—or those willing to donate blood or tissue samples for research would be the most relevant participants.
✕Less likely to help
Patients with diseases unrelated to RNA splicing or those unwilling or unable to provide samples are unlikely to receive direct benefit from this predominantly laboratory-focused work.
What this research studies
I would be hearing from a team that studies the molecular machines that recognize where RNA should be cut and joined, which determines which parts of a gene make it into the final message. They use lab experiments, cell-based tests, animal models, and computer analyses to see how small RNAs, RNA-binding proteins (such as SRSF1), and drugs or antisense oligonucleotides change splicing. The researchers also map protein-protein interactions and seek structural details to explain how splicing decisions are made. Results are intended to clarify how patient mutations disrupt splicing and to guide better diagnostics and splicing-targeting therapies.
Why it matters
Potential benefit: Could improve genetic diagnosis and help develop therapies (for example antisense oligonucleotides or small molecules) that correct harmful splicing errors in diseases like Duchenne muscular dystrophy.
How similar studies have gone: Antisense oligonucleotide therapies that modify splicing have reached patients in conditions like Duchenne muscular dystrophy, demonstrating this approach can work, even as many basic splicing mechanisms remain under active study.
Where this research is happening
-
Cold Spring Harbor Laboratory
Cold Spring Harbor, United States Active
Researchers
- Principal investigator: Krainer, Adrian R — Cold Spring Harbor Laboratory
- Study coordinator: Krainer, Adrian R
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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.