Understanding the genetic causes of Coats Plus Disease
Molecular Basis of Coats Plus Disease
This study is looking into Coats Plus Disease, a rare genetic condition that causes developmental challenges, to better understand the genetic changes behind it and find new ways to help improve treatment options for those affected.
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 ID | NIH-11100348 on NIH RePORTER |
What this research studies
This research investigates Coats Plus Disease, a rare genetic disorder that leads to serious developmental issues affecting multiple systems in the body. The study focuses on understanding the genetic mutations that cause this condition, particularly those affecting the CST complex, which is crucial for maintaining genome stability. By exploring how these mutations impact cellular processes during replication stress, the research aims to uncover potential therapeutic strategies that could improve patient outcomes. Patients may benefit from insights gained into the disease mechanisms and possible future treatments.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Coats Plus Disease or those exhibiting symptoms related to this condition.
Not a fit: Patients with unrelated genetic disorders or those not affected by Coats Plus Disease may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and treatment options for patients with Coats Plus Disease.
How similar studies have performed: While the specific mechanisms of Coats Plus Disease are being explored, similar research into genetic disorders has shown promise in identifying therapeutic targets and improving patient care.
Where this research is happening
North Chicago, United States
- 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
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.