Do unclear changes in the ANKRD17 gene cause neurodevelopmental problems?
Official title: In vivo assessment of variants of uncertain significance in the intellectual disability gene ANKRD17
Funded at Boston Children's Hospital · NIH-11182583 · Data updated 2026-11-12
This project checks whether unclear (uncertain) changes in the ANKRD17 gene lead to neurodevelopmental disability so families and doctors can better understand genetic test results.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | September 4, 2024 |
| Project end | August 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $221,250 |
| NIH project number | 5R21HD113926-02 |
| Project ID | NIH-11182583 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are people (often children) with neurodevelopmental disability who carry an ANKRD17 variant currently labeled as a variant of uncertain significance.
✕Less likely to help
Patients without an ANKRD17 variant or whose ANKRD17 variant is already classified as clearly pathogenic or clearly benign are unlikely to benefit directly from this work.
What this research studies
If a child has a genetic change in ANKRD17 that experts cannot classify, this project uses living models to see what those changes do to development. Researchers will introduce specific uncertain ANKRD17 variants into mice and observe whether those changes produce developmental or cardiovascular effects similar to what is seen in humans. The team focuses on variants that likely reduce gene activity (haploinsufficiency) and uses a rapid in vivo testing strategy because full gene loss is lethal in mouse embryos. The results will provide experimental evidence that could help clinical labs reclassify uncertain variants under standard guidelines.
Why it matters
Potential benefit: If successful, this work could help reclassify ANKRD17 uncertain variants so families receive clearer diagnoses and guidance.
How similar studies have gone: Similar animal-model approaches have clarified variant effects for some other genes, but applying this in vivo strategy to ANKRD17 is new and exploratory.
Where this research is happening
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Boston Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Warman, Matthew L — Boston Children's Hospital
- Study coordinator: Warman, Matthew L
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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.