Homeotic changes in human eye and brain disease linked to Xq27 insertions
Official title: Homeotic hotspot in the human genome for eye and brain disease
Funded at University of California at Davis · NIH-11383526 · Data updated 2026-11-12
Aims to understand why certain DNA insertions at the Xq27 site near SOX3 cause eye and brain disorders by studying patient cells and mouse 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 | 2026 |
| Award (this year) | $454,158 |
| NIH project number | 5R01EY033742-05 |
| Project ID | NIH-11383526 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with X-linked eye or brain disorders linked to Xq27 insertions near SOX3.
✕Less likely to help
Some individuals with the condition may not experience immediate therapeutic benefits from this basic science work.
What this research studies
This grant studies how a large DNA insertion at Xq27 near the SOX3 gene can change cell fates in the eye and brain. Researchers will use patient-derived induced pluripotent stem cells, differentiate them into retinal and neural cell types, and examine chromatin changes and gene activity. They will also test candidate enhancers and use mouse transgenic models to explore disease mechanisms and how these insertions drive abnormal development. The work includes advanced 3D genome mapping and single-cell sequencing to link genetic changes to specific cell outcomes.
Why it matters
Potential benefit: If successful, findings could clarify why these eye and brain disorders occur and point toward targets for future therapies.
How similar studies have gone: Prior work on chromatin architecture and SOX3-related mechanisms supports the feasibility of this approach, but the exact insertions are novel.
Where this research is happening
-
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.
Related research
Other NIH-funded projects on the same topics.
-
How a common virus can cause deadly brain disease (PML)
This work looks at where the JC virus hides and how it gets into the brain in people with weakened immune systems who can develop PML.
-
Shared neuroscience platform to advance brain research and training
A national hub at Stanford provides shared brain-research tools, models, and imaging methods to help scientists study brain development, disease, and behavior using 3D cultures, organoids, and viral vectors.
-
Understanding how mutations in brain cells contribute to brain diseases.
This study is looking at how tiny genetic changes in different brain cells might contribute to conditions like focal cortical dysplasia, which can cause severe epilepsy and other brain-related issues, to help us understand how these changes affect brain health and function.
-
An X‑chromosome genetic hotspot linked to inherited eye and brain disorders
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.
-
A platform for advancing brain research and training
This study is all about bringing together tools and training to help researchers better understand how the brain develops and what happens when it gets sick, so if you're a scientist interested in brain research, this is a great chance to learn new techniques and work with others in the field!
-
Investigating genetic causes of eye and brain diseases
This study is looking at how certain genetic changes can cause eye and brain disorders like BASR syndrome and retinitis pigmentosa, and it's for anyone interested in understanding these conditions better and finding new ways to treat them.
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.