Understanding brain changes in Ataxia Telangiectasia
Official title: Defining cerebellar pathophysiology in Ataxia Telangiectasia
Funded at Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center · NIH-11006342 · Data updated 2026-11-12
This study is looking at how a protein problem in Ataxia Telangiectasia (A-T) affects brain function, especially in movement control, using special mice that have the same issues as people with A-T, to help find new ways to treat this rare condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center NIH-funded |
| Lab location | 1 site (Torrance, United States) |
| Project start | January 15, 2024 |
| Project end | December 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $574,684 |
| NIH project number | 5R01NS131646-02 |
| Project ID | NIH-11006342 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with Ataxia Telangiectasia, particularly those under the age of 11.
✕Less likely to help
Patients with other forms of ataxia or those without a diagnosis of Ataxia Telangiectasia may not benefit from this research.
What this research studies
This research investigates Ataxia Telangiectasia (A-T), a rare genetic disorder that leads to severe motor coordination loss and cerebellar degeneration. The study aims to uncover how deficiencies in the ATM protein affect brain function, particularly in the cerebellum, by using a novel mouse model that mimics the disease. Researchers will analyze the genetic and cellular changes in these mice to better understand the disease mechanisms and identify potential therapeutic targets. This work is crucial as there are currently no effective treatments for A-T.
Why it matters
Potential benefit: If successful, this research could lead to new insights and potential therapies for patients suffering from Ataxia Telangiectasia.
How similar studies have gone: While research on Ataxia Telangiectasia has been ongoing, this specific approach using a novel mouse model represents a new avenue that has not been extensively tested before.
Where this research is happening
-
Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Torrance, United States Active
Researchers
- Principal investigator: Mathews, Paul James — Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
- Study coordinator: Mathews, Paul James
Related research
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Researchers are creating a patient-derived, human cell model of Purkinje cells to understand why this brain disease causes cerebellar degeneration in people with Ataxia Telangiectasia.
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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.