Annotating brain tumor and birth defect genetic drivers
Official title: Annotating the phenotypes of variants driving embryonal brain tumors and birth defects
Funded at University of California, San Francisco · NIH-11295247 · Data updated 2026-11-12
Researchers are studying how genetic differences that cause birth defects may also drive embryonal brain tumors, with the goal of clearer DNA clues for kids.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Francisco NIH-funded |
| Lab location | 1 site (San Francisco, United States) |
| Project start | September 1, 2026 |
| Project end | August 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $328,000 |
| NIH project number | 1R03CA309623-01 |
| Project ID | NIH-11295247 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are children and young patients whose birth defects or brain tumors have associated genetic data available in the Kids First Data Resource Center.
✕Less likely to help
Patients without the relevant genetic data or those outside the pediatric age range may not directly benefit.
What this research studies
This project looks at how shared genetic variants influence brain tumors in children with birth defects, using patient-derived brain tissue data. It will map which cells carry these driver variants and how they change gene activity and epigenetic marks. The team will annotate known and new driver variants and compare their patterns in tumor samples and congenital disease contexts. The work builds on existing pediatric data resources to connect genetics with cellular behavior, aiming for better diagnostics and future precision therapies.
Why it matters
Potential benefit: If successful, this work could improve genetic testing and guide targeted treatment strategies for children affected by both birth defects and embryonal brain tumors.
How similar studies have gone: Preliminary data and related studies have shown that shared variants can influence tumor biology and development, supporting the plausibility of this approach.
Where this research is happening
-
University of California, San Francisco
San Francisco, United States Active
Researchers
- Principal investigator: Diaz, Aaron Antonio — University of California, San Francisco
- Study coordinator: Diaz, Aaron Antonio
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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.