Improving newborn genome screening to find urea cycle disorders
Development and application of variant interpretation platforms to advance detection of urea cycle disorders by newborn genome sequencing
['FUNDING_R01'] · PACIFIC NORTHWEST RESEARCH INSTITUTE · NIH-11285457
This project improves how newborn genome sequencing finds urea cycle disorders in babies by making genetic variant results easier to interpret.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | PACIFIC NORTHWEST RESEARCH INSTITUTE (nih funded) |
| Locations | 1 site (SEATTLE, UNITED STATES) |
| Trial ID | NIH-11285457 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: 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.
Not a fit: 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.
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 performed: 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
SEATTLE, UNITED STATES
- PACIFIC NORTHWEST RESEARCH INSTITUTE — SEATTLE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: DUDLEY, AIMEE M — PACIFIC NORTHWEST RESEARCH INSTITUTE
- Study coordinator: DUDLEY, AIMEE M
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 below.