Investigating new proteins that could help treat a genetic disorder affecting development.
Evaluating novel architectural proteins as therapeutic targets for cohesin dysfunction
This study is looking at Cornelia de Lange Syndrome (CdLS) to understand how certain gene changes affect the body and to find new treatments that could help improve the lives of people with this condition.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-10709896 on NIH RePORTER |
What this research studies
This research focuses on Cornelia de Lange Syndrome (CdLS), a rare developmental disorder caused by mutations in proteins that help maintain chromosome structure. The team is exploring how these mutations disrupt normal gene expression and cellular function. They are using advanced techniques to identify and test new proteins that could potentially correct the issues caused by cohesin dysfunction. By understanding these molecular factors, the research aims to develop targeted therapies that could improve outcomes for patients with CdLS.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Cornelia de Lange Syndrome or those exhibiting symptoms related to cohesin dysfunction.
Not a fit: Patients with other genetic disorders unrelated to cohesin dysfunction may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve developmental outcomes for patients with Cornelia de Lange Syndrome.
How similar studies have performed: While research on cohesin dysfunction is ongoing, this specific approach targeting novel proteins is relatively novel and has not been extensively tested.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Joyce, Eric F. — University of Pennsylvania
- Study coordinator: Joyce, Eric F.
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.