Newborn screening: using gene and metabolite data to refine true vs false positives
Official title: Multiplex gene sequencing and metabolomics analysis from newborn dried blood spots to improve screening and diagnosis of metabolic disorders.
Funded at Yale University · NIH-11608554 · Data updated 2026-11-12
A study using genetic and metabolomic data from newborn blood spots to better distinguish real metabolic disorders from false alarms.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project start | September 1, 2020 |
| Project end | August 10, 2028 |
| Funding year | 2026 |
| Award (this year) | $182,753 |
| NIH project number | 2R56HD102537-06A1 |
| Project ID | NIH-11608554 on NIH RePORTER |
Who could benefit from this research
✓Could help
Newborns who had positive or unclear results on initial newborn screening in California with documented outcomes and available archived dried blood spots.
✕Less likely to help
Newborns with negative screens or without archived samples may not directly benefit from this study.
What this research studies
This project will analyze archived newborn screening samples with known outcomes to see which genomic and metabolomic markers best separate true disease from false positives. Researchers will perform targeted sequencing and expanded metabolomic profiling on dried blood spots, then combine these results with standard screening data and patient info. Using statistical and machine-learning methods, they aim to identify markers and approaches that could become scalable second-tier tests to improve diagnosis for newborns.
Why it matters
Potential benefit: If successful, this work could reduce unnecessary follow-up tests and accelerate accurate diagnoses for newborns with metabolic disorders.
How similar studies have gone: Previous work suggests that combining genomic and metabolomic data improves classification of true vs false positives, but validation in a larger, focused set is needed.
Where this research is happening
-
Yale University
New Haven, United States Active
Researchers
- Principal investigator: Scharfe, Curt — Yale University
- Study coordinator: Scharfe, Curt
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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.