Understanding how SMARCE1 affects gene regulation and chromatin structure
Official title: Investigating SMARCE1 in Regulating Cohesin Activity, Chromatin Folding, and Gene Expression
Funded at University of Pennsylvania · NIH-10996033 · Data updated 2026-11-12
This study is looking at how a protein called SMARCE1 helps organize our genes and could provide new insights into conditions like Cornelia de Lange Syndrome, which might help patients understand more about their genetic challenges.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | September 16, 2024 |
| Project end | September 15, 2027 |
| Funding year | 2024 |
| Award (this year) | $48,974 |
| NIH project number | 1F31HD114273-01A1 |
| Project ID | NIH-10996033 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Cornelia de Lange Syndrome or those exhibiting similar developmental disorders.
✕Less likely to help
Patients without genetic conditions related to cohesin dysfunction may not benefit from this research.
What this research studies
This research investigates the role of SMARCE1 in regulating the cohesin complex, which is crucial for organizing our genetic material into functional structures. By exploring how SMARCE1 influences chromatin folding and gene expression, the study aims to uncover new insights into developmental disorders like Cornelia de Lange Syndrome (CdLS). The approach involves genome-wide screening to identify genetic interactions and mechanisms that may contribute to cohesin dysfunction. Patients may benefit from a better understanding of the genetic factors involved in their conditions.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for patients with Cornelia de Lange Syndrome and related disorders.
How similar studies have gone: Previous research has shown promising results in understanding chromatin regulation and its implications for developmental disorders, suggesting this approach could yield valuable insights.
Where this research is happening
-
University of Pennsylvania
Philadelphia, United States Active
Researchers
- Principal investigator: Wai, May — University of Pennsylvania
- Study coordinator: Wai, May
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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.