Exploring the link between cohesin and cilia in developmental disorders
Official title: Cohesinopathies and Ciliopathies - What's the Connection?
Funded at Lehigh University · NIH-10786832 · Data updated 2026-11-12
This study is looking at how certain proteins and tiny hair-like structures in our cells work together, especially when changes in their genes can lead to health issues that affect growth and multiple body systems, with the goal of finding better treatments for people with these conditions.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Lehigh University NIH-funded |
| Lab location | 1 site (Bethlehem, United States) |
| Project start | August 1, 2024 |
| Project end | July 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $157,194 |
| NIH project number | 1R03HD114042-01 |
| Project ID | NIH-10786832 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with ciliopathies or cohesinopathies, particularly those experiencing symptoms like hearing loss, skeletal abnormalities, or cardiac defects.
✕Less likely to help
Patients with conditions unrelated to ciliopathies or cohesinopathies may not benefit from this research.
What this research studies
This research investigates the relationship between cohesin proteins and cilia, which are essential for various cellular functions. It focuses on understanding how mutations in genes affecting these structures lead to conditions known as ciliopathies and cohesinopathies, both of which can cause developmental syndromes and multi-system disorders. By examining the role of cohesins in cilia structure and function, the research aims to uncover new insights that could inform treatment strategies for affected patients. The study employs genetic and molecular techniques, including CRISPR, to explore these connections in model organisms.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic approaches for patients suffering from ciliopathies and cohesinopathies.
How similar studies have gone: Previous research has shown promising results in understanding the roles of cohesins and cilia, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Lehigh University
Bethlehem, United States Active
Researchers
- Principal investigator: Iovine, Mary Kathryn — Lehigh University
- Study coordinator: Iovine, Mary Kathryn
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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.