Creating a new test to screen newborns for treatable diseases
Official title: Development of a Multiplex Proteomics Assay for High-Throughput Newborn Screening of a New Set of Treatable Neonatal Diseases
Funded at Seattle Children's Hospital · NIH-11031373 · Data updated 2026-11-12
This study is working on a new test that can help find more treatable genetic disorders in newborns by looking at tiny samples of their blood, making it easier for doctors to catch these conditions early and start treatment right away.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Seattle Children's Hospital NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project start | April 19, 2023 |
| Project end | January 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $485,737 |
| NIH project number | 5R01HD111410-03 |
| Project ID | NIH-11031373 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are newborns, particularly those within the first few weeks of life, who are undergoing routine screening for genetic disorders.
✕Less likely to help
Patients who are older than four weeks or those who do not have any genetic disorders that can be detected through this new screening method may not benefit from this research.
What this research studies
This research focuses on improving newborn screening programs by developing a new multiplex proteomics assay that can detect a wider range of treatable genetic disorders in newborns. The approach involves analyzing dried blood spots to identify specific proteins that indicate disease, particularly those that are often degraded in affected individuals. By utilizing advanced techniques, the researchers aim to enhance the accuracy and efficiency of early diagnosis, which is crucial for timely treatment. This innovative method could significantly modernize current screening practices and expand the number of conditions that can be detected at birth.
Why it matters
Potential benefit: If successful, this research could lead to earlier and more accurate diagnoses of treatable neonatal diseases, improving health outcomes for affected infants.
How similar studies have gone: Previous research has shown success in using advanced proteomics techniques for disease detection, indicating that this approach has the potential to be effective.
Where this research is happening
-
Seattle Children's Hospital
Seattle, United States Active
Researchers
- Principal investigator: Hahn, Sihoun — Seattle Children's Hospital
- Study coordinator: Hahn, Sihoun
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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.