Investigating genetic disorders related to cilia and their functions
Genetic and Functional Studies of Human Ciliary Syndromes
This study is looking into ciliopathies, which are genetic disorders that affect tiny structures in our cells called cilia, and it's for people who have these conditions; the researchers want to find new genes that cause these disorders and learn how they impact symptoms, hoping to improve diagnosis and treatment options for patients.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Lurie Children's Hospital of Chicago NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project ID | NIH-10436165 on NIH RePORTER |
What this research studies
This research focuses on ciliopathies, a group of over 100 genetic disorders caused by defects in cilia, which are essential for various cellular functions. The team aims to identify new causal genes and understand how genetic variations affect disease manifestation. By using advanced techniques like genome-wide siRNA screening, they will explore how certain genes influence ciliary function and contribute to these disorders. This work could lead to better diagnostic tools and targeted therapies for affected patients.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with ciliopathies or those with a family history of these genetic disorders.
Not a fit: Patients with non-genetic disorders or those without any known ciliopathy-related conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and treatment options for patients with ciliopathies.
How similar studies have performed: Previous research on ciliopathies has shown promise in identifying genetic causes and developing therapeutic strategies, indicating that this approach has potential for success.
Where this research is happening
Chicago, United States
- Lurie Children's Hospital of Chicago — Chicago, United States (Active)
Researchers
- Principal investigator: Davis, Erica Ellen — Lurie Children's Hospital of Chicago
- Study coordinator: Davis, Erica Ellen
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.