Investigating genetic variants in CHD2 linked to neurodevelopmental disorders
Official title: Deep mutational scanning of CHD2 for variant interpretation in neurodevelopmental disorders
Funded at Northwestern University at Chicago · NIH-10811491 · Data updated 2026-11-12
This study is looking at how changes in a specific gene called CHD2 might be linked to conditions like epilepsy, intellectual disability, and autism, and it aims to help patients with unclear genetic test results understand their genetic information better.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Northwestern University at Chicago NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project start | September 15, 2023 |
| Project end | August 31, 2025 |
| Funding year | 2023 |
| Award (this year) | $420,790 |
| NIH project number | 1R21NS131937-01A1 |
| Project ID | NIH-10811491 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with neurodevelopmental disorders linked to CHD2 variants or those with uncertain genetic test results.
✕Less likely to help
Patients without any genetic variants in CHD2 or those with unrelated neurodevelopmental disorders may not benefit from this research.
What this research studies
This research focuses on understanding how specific genetic changes in the CHD2 gene contribute to neurodevelopmental disorders such as epilepsy, intellectual disability, and autism. By using advanced techniques to analyze how these genetic variants affect protein function, the study aims to clarify the role of these variants in disease. Patients with uncertain genetic test results will benefit from this research as it seeks to provide clearer interpretations of their genetic information. The research employs high-throughput assays to assess the impact of these variants on protein levels and DNA methylation.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and interpretation of genetic variants, improving diagnosis and treatment options for patients with neurodevelopmental disorders.
How similar studies have gone: Previous research has shown promise in using high-throughput assays to interpret genetic variants, indicating that this approach could yield valuable insights.
Where this research is happening
-
Northwestern University at Chicago
Chicago, United States Active
Researchers
- Principal investigator: Carvill, Gemma Louise — Northwestern University at Chicago
- Study coordinator: Carvill, Gemma Louise
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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.