Improving newborn genome screening to find urea cycle disorders
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-11285457 · Data updated 2026-11-12
This project improves how newborn genome sequencing finds urea cycle disorders in babies by making genetic variant results easier to interpret.
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 | 2026 |
| Award (this year) | $767,869 |
| NIH project number | 5R01HD114863-03 |
| Project ID | NIH-11285457 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates would be newborns (and their parents) enrolled in newborn genome sequencing programs or newborn screening efforts, especially where UCD risk is a concern.
✕Less likely to help
Patients with conditions unrelated to the five targeted urea cycle genes or older individuals beyond the newborn period may not directly benefit from this project.
What this research studies
If your baby had newborn genome sequencing, this work aims to reduce unclear genetic results that leave parents unsure what a finding means. The team will build and use laboratory tests and computer tools to better characterize genetic changes in five genes that cause urea cycle disorders (OTC, ASS1, ASL, ARG1, and SLC25A15). They will combine functional lab data with variant interpretation platforms so sequencing reports give clearer, more accurate answers. The goal is to make newborn screening more reliable for conditions that can cause dangerous ammonia buildup in early life.
Why it matters
Potential benefit: If successful, this could allow newborn screening to identify more babies with urea cycle disorders quickly and reduce uncertain genetic results that delay treatment.
How similar studies have gone: Other groups have used newborn genome sequencing and functional assays for variant interpretation, but this project focuses specifically on building validated platforms for five UCD genes where uncertainty remains a major problem.
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.