Understanding how R-loops affect Ataxia Telangiectasia
Genome-wide dysregulation of R-loops in Ataxia Telangiectasia neurological pathogenesis
This study is looking at how certain structures in our cells, called R-loops, and a gene called ATM are connected to Ataxia Telangiectasia (AT), a condition that affects movement and coordination, to find new ways to help people with this disease.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Emory University NIH-funded |
| Lab location | 1 site (Atlanta, United States) |
| Project ID | NIH-11051880 on NIH RePORTER |
What this research studies
This research investigates the role of R-loops, which are structures formed by RNA and DNA, in the development of Ataxia Telangiectasia (AT), a neurodegenerative disease. The study aims to uncover how mutations in the ATM gene lead to problems in DNA repair and contribute to the symptoms of AT. By examining the relationship between ATM and a protein called METTL3, the research seeks to clarify the molecular mechanisms that underlie the disease. This could help identify new therapeutic targets for patients suffering from AT.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Ataxia Telangiectasia, particularly those experiencing early symptoms of the disease.
Not a fit: Patients with other neurodegenerative diseases unrelated to Ataxia Telangiectasia may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve the quality of life for patients with Ataxia Telangiectasia.
How similar studies have performed: While the specific focus on R-loops in Ataxia Telangiectasia is novel, similar research has shown promising results in understanding DNA repair mechanisms in other conditions.
Where this research is happening
Atlanta, United States
- Emory University — Atlanta, United States (Active)
Researchers
- Principal investigator: Westover, Katherine R. — Emory University
- Study coordinator: Westover, Katherine R.
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.