Cerebellar cytoskeleton clues to neurodevelopmental disorders
Official title: Cytoskeletal pathways of cerebellar dysregulation in neurodevelopmental disorders
Funded at University of Pennsylvania · NIH-11364222 · Data updated 2026-11-12
A study to understand how a protein in brain cells called βII-spectrin affects cerebellar circuits and contributes to disorders like ADHD, autism, and epilepsy in children.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | August 23, 2024 |
| Project end | June 30, 2029 |
| Funding year | 2026 |
| Award (this year) | $808,459 |
| NIH project number | 5R01MH136674-03 |
| Project ID | NIH-11364222 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children and families affected by neurodevelopmental disorders with variants in SPTBN1 or similar cerebellar pathway disruptions.
✕Less likely to help
Most children without these specific genetic variants are unlikely to benefit from these findings.
What this research studies
Researchers will explore how loss of βII-spectrin in cerebellar granule cells changes nerve cell connections and signaling. They will use mouse models and advanced imaging plus electrophysiology to map where the brain wiring goes awry. The work combines cellular biology, live and super-resolution imaging, and behavior tests to link molecular defects to developmental symptoms. Findings could point to why some kids with specific genetic variants experience cognitive and motor challenges and seizures.
Why it matters
Potential benefit: Better understanding of disease mechanisms could guide future therapies for neurodevelopmental disorders linked to SPTBN1 variants.
How similar studies have gone: Previous work in mice showed cerebellar βII-spectrin loss produces relevant behavioral and neural changes, supporting this approach.
Where this research is happening
-
University of Pennsylvania
Philadelphia, United States Active
Researchers
- Principal investigator: Lorenzo, Damaris N — University of Pennsylvania
- Study coordinator: Lorenzo, Damaris N
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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.