How cells protect chromosome ends with telomere proteins
Molecular interactions and regulatory events in telomere maintenance
['FUNDING_R01'] · CASE WESTERN RESERVE UNIVERSITY · NIH-11323991
This project looks at how the telomere proteins POT1 and TPP1 keep chromosome ends safe, which could help people with cancers or inherited telomere disorders.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | CASE WESTERN RESERVE UNIVERSITY (nih funded) |
| Locations | 1 site (CLEVELAND, UNITED STATES) |
| Trial ID | NIH-11323991 on ClinicalTrials.gov |
What this research studies
This work focuses on POT1-TPP1, the protein pair that caps the ends of chromosomes and helps control telomerase activity to maintain telomeres. Researchers will study genetic variants found in patients and use biochemical and cell-based laboratory experiments to see how those changes affect telomere structure and genome stability. The team will map protein interactions and regulatory steps that guide telomere maintenance and test how disrupted function leads to DNA damage responses. Findings are intended to connect specific mutations to cellular problems that can lead to cancer or other telomere-linked diseases.
Who could benefit from this research
Good fit: People with inherited telomere syndromes, familial cancers, or known mutations in POT1 or TPP1 would be the most relevant candidates to follow the project or contribute samples.
Not a fit: Patients whose illnesses are unrelated to telomere biology or who do not carry relevant telomere-protein mutations are unlikely to see direct benefit from this research.
Why it matters
Potential benefit: If successful, the project could reveal how specific mutations disrupt telomere protection and point toward new diagnostic markers or targeted treatments for cancers and inherited telomere disorders.
How similar studies have performed: Previous research has linked POT1 mutations to cancer and telomere dysfunction, providing a strong foundation, but the detailed molecular mechanisms are still being worked out.
Where this research is happening
CLEVELAND, UNITED STATES
- CASE WESTERN RESERVE UNIVERSITY — CLEVELAND, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: TAYLOR, DEREK JAMES — CASE WESTERN RESERVE UNIVERSITY
- Study coordinator: TAYLOR, DEREK JAMES
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.