Understanding DNA damage in neurodegeneration
Origins of DNA damage driving pathology in human neurodegeneration
This study is looking at how changes in the ATM gene can cause early-onset cerebellar ataxia and neurodegeneration, and it’s for people who want to understand why these conditions happen and how we might find new ways to help manage them.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Texas at Austin NIH-funded |
| Lab location | 1 site (Austin, United States) |
| Project ID | NIH-11012917 on NIH RePORTER |
What this research studies
This research investigates how mutations in the ATM gene lead to early-onset cerebellar ataxia and neurodegeneration. By studying the mechanisms behind DNA damage response and the formation of protein aggregates in affected individuals, the research aims to uncover the underlying causes of these conditions. The team analyzes patient tissue samples to identify patterns of protein aggregation and DNA damage that may contribute to disease progression. This work could provide insights into potential therapeutic targets for managing neurodegenerative disorders.
Who could benefit from this research
Good fit: Ideal candidates for this research are adolescents aged 12-20 who have been diagnosed with ataxia-telangiectasia or related disorders.
Not a fit: Patients with neurodegenerative conditions unrelated to ATM mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that slow down or prevent neurodegeneration in patients with ATM-related disorders.
How similar studies have performed: Previous research has shown promising results in understanding DNA damage responses in other neurodegenerative conditions, suggesting that this approach may yield valuable insights.
Where this research is happening
Austin, United States
- University of Texas at Austin — Austin, United States (Active)
Researchers
- Principal investigator: Paull, Tanya T — University of Texas at Austin
- Study coordinator: Paull, Tanya T
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.