How faulty heme transport can cause congenital hydrocephalus
Official title: Defective heme transport in the development of congenital hydrocephalus
Funded at University of California, San Francisco · NIH-11126670 · Data updated 2026-11-12
This project is finding out whether problems moving heme, an oxygen-carrying molecule, in developing brain cells lead to congenital hydrocephalus in infants.
Quick facts
| Grant type | R01 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, 2021 |
| Project end | June 30, 2026 |
| Funding year | 2025 |
| Award (this year) | $616,679 |
| NIH project number | 5R01NS123168-05 |
| Project ID | NIH-11126670 on NIH RePORTER |
Who could benefit from this research
✓Could help
People most directly affected would be infants and families with congenital hydrocephalus, especially those with known or suspected FLVCR2-related genetic forms.
✕Less likely to help
Patients whose hydrocephalus is caused by non-genetic factors (for example post-hemorrhagic or obstructive causes) may not see direct benefits from these findings in the near term.
What this research studies
The team uses mouse models that carry the same gene changes seen in a genetic form of congenital hydrocephalus to study how heme movement affects the developing brain. They manipulate heme transporter genes (including FLVCR2 in blood vessel cells and FLVCR1a in neural progenitor cells) and examine brain blood vessels, oxygen levels, and neural stem cell behavior. The investigators combine genetics, cell biology, tissue analysis, and brain imaging to track how disrupted heme handling links abnormal angiogenesis and disrupted cell differentiation to enlarged brain ventricles. Results are intended to clarify disease mechanisms that could point to new treatment targets.
Why it matters
Potential benefit: If successful, this work could identify new ways to prevent or treat congenital hydrocephalus by targeting heme transport or related blood-vessel and oxygen problems in the developing brain.
How similar studies have gone: Related animal studies already link FLVCR2 and FLVCR1a defects to abnormal brain vessels, hypoxia, and hydrocephalus, but human treatments based on this mechanism remain untested.
Where this research is happening
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University of California, San Francisco
San Francisco, United States Active
Researchers
- Principal investigator: Arnold, Thomas Darmody — University of California, San Francisco
- Study coordinator: Arnold, Thomas Darmody
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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.