Understanding chloride channels and scramblases in the body
Structure and function of chloride channels, transporters and scramblases
This work looks at how chloride channels and related scramblase proteins operate because changes in them can cause inherited bone, kidney, brain, and muscle disorders.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Weill Medical Coll of Cornell Univ NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11249575 on NIH RePORTER |
What this research studies
The team is mapping the shapes and motions of two protein families (CLCs and TMEM16s) that move chloride and lipids across cell membranes. They use high-resolution structural methods, targeted mutations, and laboratory functional tests to see how specific genetic changes alter protein behavior. Because some inherited bone, kidney, brain, and muscle diseases come from mutations in these proteins, the project focuses on the protein forms linked to disease. Understanding the atomic details aims to point to ways to design medicines that correct or compensate for the faulty proteins.
Who could benefit from this research
Good fit: People with inherited conditions tied to CLC or TMEM16 gene mutations—such as certain bone, kidney, muscle, or neurologic disorders—or those with known pathogenic variants are the most relevant group.
Not a fit: Patients with unrelated conditions or those seeking immediate clinical treatment are unlikely to benefit directly from this basic laboratory-focused work.
Why it matters
Potential benefit: If successful, this research could enable development of targeted drugs or diagnostics for disorders caused by faulty chloride channels and scramblases.
How similar studies have performed: Previous structural and functional studies have revealed important insights into these protein families, but many disease-associated conformations remain uncharacterized and require more detailed structural work.
Where this research is happening
New York, United States
- Weill Medical Coll of Cornell Univ — New York, United States (Active)
Researchers
- Principal investigator: Accardi, Alessio — Weill Medical Coll of Cornell Univ
- Study coordinator: Accardi, Alessio
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.