Understanding how genetic mutations affect cilia-related disorders
Integrating functional proteomics, genome engineering, and live-cell microscopy to the study of ciliopathies
This study is looking at how certain genetic changes can cause problems with tiny structures in our cells called cilia, which are important for cell communication and can lead to health issues, and it's designed for anyone interested in understanding more about these conditions and how they affect the body.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Oklahoma Hlth Sciences Ctr NIH-funded |
| Lab location | 1 site (Oklahoma City, United States) |
| Project ID | NIH-10923876 on NIH RePORTER |
What this research studies
This research investigates how specific genetic mutations contribute to disorders known as ciliopathies, which are characterized by dysfunction of cellular structures called cilia. Cilia play a crucial role in cell signaling and communication, and their impairment can lead to various health issues, including developmental delays and organ dysfunction. The study employs advanced techniques such as functional proteomics and live-cell microscopy to analyze the protein composition of cilia and understand the underlying mechanisms of these disorders. By isolating human cilia and using mass spectrometry, the research aims to uncover how protein transport and retention are affected in ciliopathies.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with ciliopathies, such as Bardet-Biedl syndrome, who may benefit from insights into their condition.
Not a fit: Patients with conditions unrelated to ciliary dysfunction or those without a genetic component to their disorder may not receive benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for ciliopathies, improving the quality of life for affected patients.
How similar studies have performed: Previous research has shown promising results in understanding ciliopathies through similar approaches, indicating a potential for significant advancements in this field.
Where this research is happening
Oklahoma City, United States
- University of Oklahoma Hlth Sciences Ctr — Oklahoma City, United States (Active)
Researchers
- Principal investigator: Van de Weghe, Julie Craft — University of Oklahoma Hlth Sciences Ctr
- Study coordinator: Van de Weghe, Julie Craft
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.