Understanding how genes produce different proteins through splicing
Official title: Mapping proximal and distal splicing-regulatory elements
Funded at Columbia University Health Sciences · NIH-11084414 · Data updated 2026-11-12
This study is looking at how our genes can create different proteins and how mistakes in this process might cause health issues like cancer and neurological disorders, with the hope of finding new ways to tailor treatments for patients based on their unique genetic makeup.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | June 1, 2023 |
| Project end | March 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $595,863 |
| NIH project number | 5R01HG012359-03 |
| Project ID | NIH-11084414 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with genetic disorders linked to splicing abnormalities or those with certain types of cancer.
✕Less likely to help
Patients with conditions unrelated to splicing mechanisms may not receive any benefit from this research.
What this research studies
This research investigates the mechanisms of alternative splicing, a process that allows a single gene to produce multiple protein variants. By mapping the regulatory elements that control this splicing, the study aims to identify how disruptions in these elements can lead to various genetic diseases, including cancers and neurological disorders. The approach involves analyzing genetic variants and their effects on splicing, which could lead to new therapeutic strategies for correcting splicing errors. Patients may benefit from insights that could inform personalized treatment options based on their genetic profiles.
Why it matters
Potential benefit: If successful, this research could lead to new therapies that correct splicing errors associated with genetic diseases.
How similar studies have gone: Previous research has shown success in identifying splicing regulatory elements and their implications in disease, indicating that this approach is promising.
Where this research is happening
-
Columbia University Health Sciences
New York, United States Active
Researchers
- Principal investigator: Zhang, Chaolin — Columbia University Health Sciences
- Study coordinator: Zhang, Chaolin
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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.