An X‑chromosome genetic hotspot linked to inherited eye and brain disorders
Homeotic hotspot in the human genome for eye and brain disease
['FUNDING_R01'] · UNIVERSITY OF CALIFORNIA AT DAVIS · NIH-11128696
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
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA AT DAVIS (nih funded) |
| Locations | 1 site (DAVIS, UNITED STATES) |
| Trial ID | NIH-11128696 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: 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.
Not a fit: 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.
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 performed: 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
DAVIS, UNITED STATES
- 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.
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.