Hidden 'poison' gene segments that affect epilepsy and brain development
Poison exons in epilepsy and neurodevelopment
This project aims to understand how tiny gene segments called poison exons change brain development and lead to genetic epilepsy so antisense medicines can be used more effectively for patients.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Northwestern University NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project ID | NIH-11095901 on NIH RePORTER |
What this research studies
From the patient's perspective, researchers will use cells made from patient samples and lab-grown brain cells to see when and where poison exons are mistakenly included in gene messages. They will read full-length RNA from single cells and measure proteins to map which poison exons are used during human brain development. The team will test how antisense oligonucleotide (ASO) approaches can correct harmful splicing in patient-derived models. Machine learning will tie genetic variants to splicing changes to help predict which patients carry treatable exon mistakes.
Who could benefit from this research
Good fit: Ideal candidates are people with genetic epilepsies or other neurodevelopmental disorders, especially those with suspected splice-region variants or who can provide samples for lab modeling.
Not a fit: Patients whose epilepsy is not caused by genetic or splicing defects, or who cannot provide samples, may not directly benefit from this work.
Why it matters
Potential benefit: If successful, this work could uncover new targets for antisense therapies and help match patients with genetic epilepsy to more precise treatments.
How similar studies have performed: Antisense oligonucleotide treatments targeting exon mis-splicing have already entered clinical trials for some rare epilepsies, but a full map and predictive tools for poison exons are still new.
Where this research is happening
Chicago, United States
- Northwestern University — Chicago, United States (Active)
Researchers
- Principal investigator: Carvill, Gemma Louise — Northwestern University
- Study coordinator: Carvill, Gemma Louise
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.