Modeling Ataxia Telangiectasia in a human stem cell model of Purkinje cells
Official title: Modeling Ataxia Telangiectasia (A-T) in a Novel Laminar System for Human Stem Cell-Derived Purkinje Cells
Funded at Rockefeller University · NIH-11605226 · Data updated 2026-11-12
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.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Rockefeller University NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | September 1, 2026 |
| Project end | August 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $593,250 |
| NIH project number | 1R56NS146969-01A1 |
| Project ID | NIH-11605226 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with Ataxia Telangiectasia or those carrying ATM mutations, contributing patient-derived cells for modeling.
✕Less likely to help
Healthy individuals’ cells may be used to create control Purkinje cells, which do not have A-T mutations.
What this research studies
We’ll turn patients’ skin or blood cells into stem cells and then coax them to become Purkinje-like brain cells in a special laminar chip, closely mimicking the human cerebellum. This model will let scientists compare how cells from someone with A-T differ from those of a healthy person, focusing on how they develop and communicate. The study aims to uncover the cellular and molecular reasons for Purkinje cell loss in A-T and how ATM mutations drive these changes. Findings could point to targets for future therapies and help explain why mouse models don’t fully reproduce the human condition.
Why it matters
Potential benefit: A better understanding of how A-T damages the cerebellum could guide the development of targeted treatments.
How similar studies have gone: Previous work shows that human iPSC-derived Purkinje cells can model cerebellar biology, but this specific laminar system for A-T is novel.
Where this research is happening
-
Rockefeller University
New York, United States Active
Researchers
- Principal investigator: Hatten, Mary Elizabeth — Rockefeller University
- Study coordinator: Hatten, Mary Elizabeth
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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.