Genetics of telomere disorders such as dyskeratosis congenita
Molecular Genetics of the Telomere Biology Disorders
This project looks at how genetic changes cause telomere disorders in children and aims to find ways to slow or reverse dangerous bone marrow failure.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project ID | NIH-11122254 on NIH RePORTER |
What this research studies
Researchers are studying the genetic mutations that cause telomere biology disorders like dyskeratosis congenita, focusing on how these mutations lead to very short telomeres and bone marrow failure in children. They are concentrating on TINF2 mutations that may give the TIN2 protein a new or stronger harmful function and using lab-grown and patient-derived cell models developed by collaborating labs to explore those mechanisms. The team is building better preclinical systems so potential interventions can be tested in the lab. The long-term goal is to identify new treatments that protect blood cells and other organs affected in kids with these disorders.
Who could benefit from this research
Good fit: Children or young adults with dyskeratosis congenita or related telomere biology disorders, especially those with known mutations in TINF2 or other telomere-related genes, would be the ideal candidates for related studies or sample donation.
Not a fit: People without telomere-related genetic mutations or those who need immediate clinical interventions like urgent bone marrow transplant may not directly benefit from this basic genetic research in the short term.
Why it matters
Potential benefit: If successful, this work could point to therapies that prevent or reverse telomere shortening and reduce life-threatening bone marrow failure in affected children.
How similar studies have performed: Previous research has identified many telomere genes and produced some models, but the focus on TINF2 gain-of-function effects and the creation of improved preclinical systems is a newer and partly untested direction.
Where this research is happening
Houston, United States
- Baylor College of Medicine — Houston, United States (Active)
Researchers
- Principal investigator: Bertuch, Alison a — Baylor College of Medicine
- Study coordinator: Bertuch, Alison a
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.