An X‑chromosome genetic hotspot linked to inherited eye and brain disorders
Official title: Homeotic hotspot in the human genome for eye and brain disease
Funded at University of California at Davis · NIH-11128696 · Data updated 2026-11-12
This project looks at how DNA insertions near the SOX3 gene on the X chromosome cause several inherited eye and brain conditions by changing which cells genes turn into, using patient cells and lab models.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California at Davis NIH-funded |
| Lab location | 1 site (Davis, United States) |
| Project start | August 1, 2022 |
| Project end | June 30, 2027 |
| Funding year | 2025 |
| Award (this year) | $451,102 |
| NIH project number | 5R01EY033742-04 |
| Project ID | NIH-11128696 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are people (or families) with X‑linked or unexplained inherited eye or brain conditions such as BASR, foveal dysgenesis, retinitis pigmentosa, spinocerebellar ataxia, or undiagnosed cases suspected to involve Xq27 insertions.
✕Less likely to help
People whose diseases are unrelated to Xq27, SOX3, or genetic causes (for example purely acquired eye or brain injuries) are unlikely to benefit directly from this project.
What this research studies
Researchers will work with cells donated by people who have X‑linked eye or brain disorders and reprogram those cells into stem cells to study development in the lab. They will use a new PCR test to find the exact DNA insertion breakpoints and 3D genome mapping (Hi‑C) to see how those insertions change chromatin architecture around SOX3. Lab-grown retinal and cerebellar cell types and single‑cell RNA sequencing will show how ectopic SOX3 expression can change cell identity or trigger degeneration. The team will also search for additional patients with similar Xq27 insertions to expand understanding of the range of affected conditions.
Why it matters
Potential benefit: If successful, this work could explain the genetic cause of several rare eye and brain disorders and lead to better genetic testing and targets for future treatments.
How similar studies have gone: The underlying discovery of Xq27 insertions affecting SOX3 builds on prior human genetic findings, but combining patient iPSCs with 3D genome mapping and single‑cell profiling for these disorders is a relatively new and specialized approach.
Where this research is happening
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University of California at Davis
Davis, United States Active
Researchers
- Principal investigator: Glaser, Thomas M. — University of California at Davis
- Study coordinator: Glaser, Thomas M.
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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.