Mapping protein changes that cause cystic fibrosis
Official title: Applying Spatial Covariance to Understand Human Variation in Genetic Disease
Funded at Scripps Research Institute, the · NIH-11318888 · Data updated 2026-11-12
This project uses a new computer method to map how genetic changes in the CFTR protein affect its folding and trafficking, with the goal of guiding treatments for people with cystic fibrosis.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Scripps Research Institute, the NIH-funded |
| Lab location | 1 site (La Jolla, United States) |
| Project start | August 1, 2023 |
| Project end | April 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $460,000 |
| NIH project number | 5R01HL166410-04 |
| Project ID | NIH-11318888 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with cystic fibrosis, especially those with known or unclear CFTR mutations who can share genetic information or biological samples, would be the most relevant participants.
✕Less likely to help
People without cystic fibrosis or whose condition is not caused by CFTR genetic changes are unlikely to receive direct benefit from this project.
What this research studies
This work uses a machine-learning approach called variation spatial profiling (VSP) to map the role of every amino acid in the CFTR protein based on human genetic variation. The team combines these computational maps with a method called VarC to define how residues interact and how those interactions drive protein folding and function. Laboratory studies will connect these maps to how cells fold and traffic CFTR through the exocytic pathway and how proteostasis and COPII systems manage misfolded protein. The research aims to identify ways, including small molecules, to improve CFTR folding and trafficking for people with cystic fibrosis.
Why it matters
Potential benefit: If successful, this could help predict which CFTR mutations cause harmful protein changes and point to therapies that restore CFTR folding and function for people with cystic fibrosis.
How similar studies have gone: Related computational and laboratory work on CFTR has helped guide drug development for some mutations, but this specific VSP/VarC mapping approach is a novel and broader method.
Where this research is happening
-
Scripps Research Institute, the
La Jolla, United States Active
Researchers
- Principal investigator: Balch, William Edward — Scripps Research Institute, the
- Study coordinator: Balch, William Edward
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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.