Improving detection of urea cycle disorders in newborns using genome sequencing
Official title: Development and application of variant interpretation platforms to advance detection of urea cycle disorders by newborn genome sequencing
Funded at Pacific Northwest Research Institute · NIH-11078212 · Data updated 2026-11-12
This study is working on improving how we find certain genetic disorders in newborns that can affect their health, using new technology to better understand their genes, so that babies can get the right care as soon as possible.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Pacific Northwest Research Institute NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project start | May 1, 2024 |
| Project end | February 28, 2029 |
| Funding year | 2025 |
| Award (this year) | $775,840 |
| NIH project number | 5R01HD114863-02 |
| Project ID | NIH-11078212 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are newborns, particularly those who may be at risk for urea cycle disorders.
✕Less likely to help
Patients who are older than four weeks or those without a family history of urea cycle disorders may not benefit from this research.
What this research studies
This research focuses on enhancing the detection of urea cycle disorders (UCDs) in newborns through advanced genome sequencing techniques. It aims to address the challenges of interpreting genetic variants that may indicate these disorders, which can lead to severe health issues if not diagnosed early. By developing better variant interpretation platforms, the project seeks to improve the accuracy and reliability of newborn screening for UCDs, ultimately leading to timely diagnosis and treatment. The research will specifically target five types of UCDs, utilizing innovative methodologies to analyze genetic data.
Why it matters
Potential benefit: If successful, this research could lead to earlier and more accurate diagnoses of urea cycle disorders in newborns, significantly improving health outcomes.
How similar studies have gone: Previous research has shown promise in using genome sequencing for newborn screening, indicating that this approach could be effective for detecting urea cycle disorders.
Where this research is happening
-
Pacific Northwest Research Institute
Seattle, United States Active
Researchers
- Principal investigator: Dudley, Aimee M — Pacific Northwest Research Institute
- Study coordinator: Dudley, Aimee 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.