Understanding SCA7 and how it damages the cerebellum and retina
SCA7 neurodegeneration: Molecular epigenetic basis and therapy
Researchers are using advanced single-cell gene and epigenetic tools in a mouse model to find what damages the brain and eyes in people with SCA7 and to point toward new treatments.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California-Irvine NIH-funded |
| Lab location | 1 site (Irvine, United States) |
| Project ID | NIH-11263608 on NIH RePORTER |
What this research studies
This project studies spinocerebellar ataxia type 7 (SCA7), a genetic disorder that causes cerebellar and retinal degeneration, by examining gene activity and DNA-level regulation at single-cell resolution. The team uses a representative SCA7 266Q knock-in mouse and a Purkinje cell–enriched single‑nucleus RNA-seq method to see which cell types and pathways change before symptoms appear. Their analyses have highlighted problems such as disrupted synaptic organization, imbalance between excitatory and inhibitory signaling, altered aldolase‑C/zebrin‑II patterns, DNA damage, mitochondrial dysfunction, and calcium dysregulation. By mapping these changes in detail, the researchers aim to identify molecular targets that could be tested for therapy development.
Who could benefit from this research
Good fit: People with genetically confirmed SCA7 or family members interested in SCA7 research would be the most relevant candidates for future clinical activities informed by this work.
Not a fit: People without SCA7 or those with very advanced, irreversible vision or cerebellar damage are unlikely to receive direct short‑term benefit from this preclinical research.
Why it matters
Potential benefit: If successful, this work could reveal molecular targets and pathways that lead to treatments to slow or prevent cerebellar and retinal decline in people with SCA7.
How similar studies have performed: Earlier research linked SCA7 to transcription dysregulation and molecular changes, but single‑cell epigenomic approaches are relatively new and translation to therapies is still at an early stage.
Where this research is happening
Irvine, United States
- University of California-Irvine — Irvine, United States (Active)
Researchers
- Principal investigator: La Spada, Albert R — University of California-Irvine
- Study coordinator: La Spada, Albert R
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.