Understanding how genetic changes affect protein folding in diseases like cystic fibrosis
Official title: Applying Spatial Covariance to Understand Human Variation in Genetic Disease
Funded at Scripps Research Institute, the · NIH-11074144 · Data updated 2026-11-12
This study is looking at how changes in our genes affect the way proteins, like the one involved in cystic fibrosis, are shaped and work, with the hope of finding better treatments for people with this condition.
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 | 2025 |
| Award (this year) | $460,000 |
| NIH project number | 5R01HL166410-03 |
| Project ID | NIH-11074144 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with cystic fibrosis or those carrying genetic variants associated with protein folding disorders.
✕Less likely to help
Patients with genetic diseases unrelated to protein folding or those without specific genetic variants may not benefit from this research.
What this research studies
This research investigates the relationship between genetic variations and the way proteins fold, which can lead to diseases such as cystic fibrosis. Using a novel machine learning approach called variation spatial profiling (VSP), the study aims to identify how specific genetic changes impact protein structure and function. By focusing on the cystic fibrosis transmembrane conductance regulator (CFTR) protein, the research seeks to uncover the mechanisms behind genetic diseases and explore potential therapeutic strategies to enhance protein function. Patients may benefit from insights that could lead to improved treatments for genetic disorders.
Why it matters
Potential benefit: If successful, this research could lead to new therapies that improve protein function in patients with cystic fibrosis and other genetic diseases.
How similar studies have gone: Other research has shown promise in using machine learning approaches to understand genetic diseases, indicating that this method could yield valuable insights.
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.