Identifying poison exons that affect brain development
Official title: POISEN: A Bioinformatics Pipeline to Identify Poison Exons in Neurodevelopment
Funded at Northwestern University at Chicago · NIH-11071382 · Data updated 2026-11-12
This study is looking at special pieces of RNA that might play a big role in brain development and could help us understand genetic factors behind conditions like Dravet syndrome, so we can create a helpful tool to find these pieces more easily.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Northwestern University at Chicago NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project start | February 11, 2025 |
| Project end | December 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $39,462 |
| NIH project number | 1F31NS141554-01 |
| Project ID | NIH-11071382 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with neurodevelopmental disorders, particularly those with known genetic variants affecting RNA splicing.
✕Less likely to help
Patients without neurodevelopmental disorders or those not carrying relevant genetic variants may not benefit from this research.
What this research studies
This research focuses on understanding how specific segments of RNA, known as poison exons, influence the development of the brain by regulating protein expression. It aims to develop a bioinformatics tool called POISEN to identify these poison exons, which are often overlooked due to their rapid degradation in cells. By analyzing how these exons are spliced in different cell types during neurodevelopment, the research seeks to uncover their role in neurodevelopmental disorders. Patients may benefit from insights gained about the genetic factors contributing to conditions like Dravet syndrome.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for neurodevelopmental disorders caused by abnormal RNA splicing.
How similar studies have gone: While the specific approach of identifying poison exons is relatively novel, similar bioinformatics tools have shown success in other areas of genetic research.
Where this research is happening
-
Northwestern University at Chicago
Chicago, United States Active
Researchers
- Principal investigator: Broad, Mia Suzanne — Northwestern University at Chicago
- Study coordinator: Broad, Mia Suzanne
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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.