Understanding the genetic causes of Coats Plus Disease
Molecular Basis of Coats Plus Disease
['FUNDING_R01'] · ROSALIND FRANKLIN UNIV OF MEDICINE & SCI · NIH-10992639
This study is looking into Coats Plus Disease, a rare genetic condition that causes serious developmental issues, to understand how certain genetic changes affect DNA stability and to find new ways to help manage the disease for patients.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | ROSALIND FRANKLIN UNIV OF MEDICINE & SCI (nih funded) |
| Locations | 1 site (NORTH CHICAGO, UNITED STATES) |
| Trial ID | NIH-10992639 on ClinicalTrials.gov |
What this research studies
This research investigates Coats Plus Disease, a rare genetic disorder that leads to serious developmental defects affecting multiple systems in the body. The study focuses on the genetic mutations that disrupt genome integrity, particularly those involving the CST complex, which is crucial for maintaining DNA stability during replication. By exploring the mechanisms that lead to genome instability under stress, the research aims to uncover potential therapeutic strategies for managing this condition. Patients may benefit from insights into disease progression and new treatment options that could arise from this work.
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 other genetic disorders not related to genome stability or those without symptoms of Coats Plus Disease may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for patients with Coats Plus Disease.
How similar studies have performed: While research on genome stability is ongoing, this specific investigation into Coats Plus Disease represents a novel approach to understanding this rare condition.
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.