Understanding how mutations in a specific gene affect intellectual disability
Official title: MOLECULAR MECHANISMS UNDERLYING INTELLECTUAL DISABILITY CAUSED BY MUTATIONS IN THE CHROMATIN MODIFIER KDM5C
Funded at Albert Einstein College of Medicine · NIH-11184423 · Data updated 2026-11-12
This study is looking at how changes in the KDM5C gene might lead to intellectual disabilities by exploring how these changes affect brain development, and it's designed for anyone interested in understanding more about the causes of these conditions and potential future treatments.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Albert Einstein College of Medicine NIH-funded |
| Lab location | 1 site (Bronx, United States) |
| Project start | July 23, 2021 |
| Project end | May 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $206,532 |
| NIH project number | 5P50HD105352-05 |
| Project ID | NIH-11184423 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with intellectual disabilities linked to mutations in the KDM5C gene.
✕Less likely to help
Patients without mutations in the KDM5C gene or those with intellectual disabilities from other causes may not benefit from this research.
What this research studies
This research investigates the role of the KDM5C gene in causing intellectual disability by examining how mutations in this gene affect brain development and function. The team will use advanced techniques, including human-derived cell models and cerebral organoids, to study gene expression changes and neuronal deficits associated with KDM5C mutations. By analyzing these models, researchers aim to uncover the molecular mechanisms that lead to intellectual disability and related conditions, providing insights that could inform future treatments.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for individuals with intellectual disabilities caused by KDM5C mutations.
How similar studies have gone: Previous research has shown promise in using similar cellular models to study neurodevelopmental disorders, indicating a potential for success in this approach.
Where this research is happening
-
Albert Einstein College of Medicine
Bronx, United States Active
Researchers
- Principal investigator: Secombe, Julie — Albert Einstein College of Medicine
- Study coordinator: Secombe, Julie
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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.