Investigating genetic variants in CHD2 linked to neurodevelopmental disorders
Deep mutational scanning of CHD2 for variant interpretation in neurodevelopmental disorders
['FUNDING_R21'] · NORTHWESTERN UNIVERSITY AT CHICAGO · NIH-10811491
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
| Phase | ['FUNDING_R21'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | NORTHWESTERN UNIVERSITY AT CHICAGO (nih funded) |
| Locations | 1 site (CHICAGO, UNITED STATES) |
| Trial ID | NIH-10811491 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with neurodevelopmental disorders linked to CHD2 variants or those with uncertain genetic test results.
Not a fit: Patients without any genetic variants in CHD2 or those with unrelated neurodevelopmental disorders may not benefit from this research.
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 performed: 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
CHICAGO, UNITED STATES
- NORTHWESTERN UNIVERSITY AT CHICAGO — CHICAGO, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: CARVILL, GEMMA LOUISE — NORTHWESTERN UNIVERSITY AT CHICAGO
- 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.
Conditions: Cancers