Functional screen of hydrocephalus and heart-disease genes in a frog model
Official title: The functional screening of congenital hydrocephalus and heart disease genes in Xenopus
Funded at Yale University · NIH-11608553 · Data updated 2026-11-12
A study uses frog embryos to test how human genetic changes might cause congenital hydrocephalus and related heart defects, with the goal of understanding why these conditions occur.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project start | September 11, 2026 |
| Project end | August 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $499,656 |
| NIH project number | 1R56HD120596-01A1 |
| Project ID | NIH-11608553 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are pediatric patients with congenital hydrocephalus and/or congenital heart disease whose genetic data reveal variants under study, or data derived from such patient populations.
✕Less likely to help
Patients without the specific genetic variants studied or without access to future translational follow-up may see no direct benefit.
What this research studies
Researchers at Yale will use the Xenopus frog model to functionally test genes and genetic variants found in patients with congenital hydrocephalus and heart disease. They will combine imaging with genetic screening to identify which variants drive brain ventricle enlargement and cardiac changes. This work aims to map how specific genes contribute to disease when altered, helping to clarify pathogenesis. The project builds on previous work showing OCT imaging can reveal both brain and heart phenotypes in mutant tadpoles. Findings could pave the way for targeted future therapies or diagnostic approaches.
Why it matters
Potential benefit: If successful, the work could improve understanding of why hydrocephalus and heart defects co-occur, guiding future treatments and diagnostics for affected children.
How similar studies have gone: Prior work has shown that functional screening in Xenopus can reveal disease-relevant gene effects, supporting potential translational impact though this exact combination is relatively novel.
Where this research is happening
-
Yale University
New Haven, United States Active
Researchers
- Principal investigator: Deniz, Engin — Yale University
- Study coordinator: Deniz, Engin
Related research
Other NIH-funded projects on the same topics.
-
Accelerating Rheumatic Heart Disease Prevention in Uganda
A program to find people with rheumatic heart disease in Ugandan communities and give them preventive care close to home.
-
Multimodal AI to improve genetic diagnosis of congenital heart disease
A new AI tool uses multiple types of patient data to help doctors find genetic causes of congenital heart disease more accurately.
-
Targeting the brain’s fluid system to treat post-hemorrhagic hydrocephalus
This grant explores a new approach to treating post-hemorrhagic hydrocephalus by studying how the brain’s fluid system and immune cells manage CSF after a brain bleed.
-
Endoscopic versus Shunt Treatment of Hydrocephalus in Infants
A study compares two treatments for hydrocephalus in infants to see which keeps babies cognitively on par with the standard shunt treatment.
-
Endoscopic treatment versus shunt for hydrocephalus in infants
This project tests whether a shunt-free endoscopic procedure can be as good as traditional shunting for babies with hydrocephalus.
-
Endoscopic treatment vs shunt for infant hydrocephalus
Infants with hydrocephalus may be treated with a shunt or a shunt-free procedure called ETV+CPC, and this study compares the two to see if the shunt-free option can keep cognitive outcomes similar.
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.