Modeling DM1 and DM2 Brain Disease with patient-derived brain organoids
Official title: Modeling Myotonic Dystrophy Type 1 and Type 2 (DM1 and DM2) Neuropathology with iPSC-Derived Cortical Organoids
Funded at Regenerative Research Foundation · NIH-11356069 · Data updated 2026-11-12
Scientists will use patient-derived stem cells to grow brain-like organoids to study why DM1 and DM2 affect the brain and behavior.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Regenerative Research Foundation NIH-funded |
| Lab location | 1 site (Albany, UNITED STATES) |
| Project start | June 1, 2026 |
| Project end | May 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $233,550 |
| NIH project number | 1R21NS149030-01 |
| Project ID | NIH-11356069 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with DM1 or DM2 or those carrying related repeat expansions who could donate iPSC lines for research.
✕Less likely to help
Some participants may not directly benefit; this study uses cells derived from patients rather than treating individuals.
What this research studies
This project uses human iPSC-derived cortical organoids to model how repeat-expansion RNAs in DM1 and DM2 disrupt brain cells. It will map how mis-splicing of MAPT and CELF2-driven excitotoxicity contribute to tau changes and neuron loss. The work aims to reveal shared and distinct pathways in cortical dysfunction, which could point to CNS-targeted therapies for myotonic dystrophy. The protocol is designed to work across many iPSC lines to reflect patient diversity and ensure robust findings. Outcomes may inform future treatments that protect the brain in DM1/DM2.
Why it matters
Potential benefit: Could identify brain-specific targets and strategies to prevent cognitive and behavioral decline in DM1/DM2.
How similar studies have gone: Prior iPSC-derived organoid models have successfully captured aspects of CNS disease, supporting this approach as promising but complex.
Where this research is happening
-
Regenerative Research Foundation
Albany, United States Active
Researchers
- Principal investigator: Butler, David C — Regenerative Research Foundation
- Study coordinator: Butler, David C
Related research
Other NIH-funded projects on the same topics.
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This grant explores why myotonic dystrophy can look very different from person to person by studying its genetic changes and how they affect muscle in adults.
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.