Identifying poison exons that affect brain development
POISEN: A Bioinformatics Pipeline to Identify Poison Exons in Neurodevelopment
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 ID | NIH-11071382 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with neurodevelopmental disorders, particularly those with known genetic variants affecting RNA splicing.
Not a fit: Patients without neurodevelopmental disorders or those not carrying relevant genetic variants may not benefit from this research.
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 performed: 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
Chicago, United States
- Northwestern University at Chicago — Chicago, United States (Active)
Researchers
- Principal investigator: Broad, Mia Suzanne — Northwestern University at Chicago
- Study coordinator: Broad, Mia Suzanne
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.