Investigating genetic causes of eye and brain diseases
Official title: Homeotic hotspot in the human genome for eye and brain disease
Funded at University of California at Davis · NIH-10879166 · Data updated 2026-11-12
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.
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 | 2024 |
| Award (this year) | $447,154 |
| NIH project number | 5R01EY033742-03 |
| Project ID | NIH-10879166 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with BASR syndrome, retinitis pigmentosa, or other related genetic disorders affecting the eye or brain.
✕Less likely to help
Patients with non-genetic causes of eye or brain disorders may not benefit from this research.
What this research studies
This research focuses on understanding the genetic mutations that lead to various eye and brain disorders, including BASR syndrome and retinitis pigmentosa. By examining specific DNA insertions in the human genome, the study aims to uncover how these mutations disrupt normal development and function of these organs. The researchers will utilize advanced techniques such as patient-derived stem cells and 3D chromatin interaction assays to explore the underlying mechanisms of these diseases. This approach may help identify new therapeutic targets and improve our understanding of these conditions.
Why it matters
Potential benefit: If successful, this research could lead to new treatments or interventions for patients suffering from genetic eye and brain disorders.
How similar studies have gone: Previous research has shown promise in understanding genetic mutations related to similar disorders, indicating that this approach may yield valuable insights.
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.
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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.