What causes Coats plus at the molecular level
Official title: Molecular Basis of Coats Plus Disease
Funded at Rosalind Franklin Univ of Medicine & Sci · NIH-11245734 · Data updated 2026-11-12
Researchers are looking at how problems in a DNA-protecting protein complex lead to the DNA-copying errors that cause Coats plus in affected people.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Rosalind Franklin Univ of Medicine & Sci NIH-funded |
| Lab location | 1 site (North Chicago, United States) |
| Project start | January 1, 2023 |
| Project end | December 31, 2026 |
| Funding year | 2026 |
| Award (this year) | $400,847 |
| NIH project number | 5R01GM146376-05 |
| Project ID | NIH-11245734 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with genetically confirmed Coats plus (pathogenic CTC1, STN1, or TEN1 variants) or family members interested in contributing samples or clinical information would be most relevant for related participation.
✕Less likely to help
People without Coats plus or without CST mutations and anyone seeking immediate clinical treatments are unlikely to receive direct benefit from this basic laboratory research.
What this research studies
You may hear that scientists are focusing on the CST protein complex (CTC1/STN1/TEN1) that normally protects DNA during cell division and keeps genomes stable. They will examine how cells respond when DNA copying stalls, including processes like fork reversal, bypass synthesis, repriming, and firing backup start sites, and how those actions are controlled. The team will map the signaling and protein recruitment at stalled replication forks to see what goes wrong when CST is defective. Most work will be done in lab-grown human cells and model systems to trace molecular steps that lead to the organ problems seen in Coats plus.
Why it matters
Potential benefit: If successful, this work could point to targets or strategies to protect DNA replication and eventually lead to therapies that reduce tissue damage in Coats plus.
How similar studies have gone: Previous lab studies have clarified parts of CST function and genome-stability pathways, but turning that knowledge into treatments for Coats plus remains largely untested.
Where this research is happening
-
Rosalind Franklin Univ of Medicine & Sci
North Chicago, United States Active
Researchers
- Principal investigator: Chai, Weihang — Rosalind Franklin Univ of Medicine & Sci
- Study coordinator: Chai, Weihang
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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.