Improving newborn screening for metabolic disorders using advanced gene sequencing and metabolomics.
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-10836039 · Data updated 2026-11-12
This study is looking at a new way to quickly and accurately check for metabolic disorders in newborns using advanced testing methods on their blood samples, which could help reduce the need for extra tests and ensure babies get the right treatment faster.
Quick facts
| Grant type | R01 grant |
|---|---|
| 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 | May 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $478,960 |
| NIH project number | 5R01HD102537-05 |
| Project ID | NIH-10836039 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are newborns who have received a positive screening result for metabolic disorders.
✕Less likely to help
Patients who are not newborns or those who have not undergone newborn screening may not benefit from this research.
What this research studies
This research focuses on enhancing newborn screening processes by utilizing multiplex gene sequencing and metabolomics analysis on dried blood spots collected from infants at birth. The goal is to develop a more efficient method for confirming positive screening results for metabolic disorders, reducing the need for additional blood and urine tests. By integrating advanced DNA sequencing and mass spectrometry technologies, the study aims to identify true cases of metabolic disorders quickly and accurately, which is crucial for timely treatment in newborns.
Why it matters
Potential benefit: If successful, this research could lead to more accurate and efficient screening for metabolic disorders in newborns, allowing for earlier diagnosis and treatment.
How similar studies have gone: Previous research has shown promise in using advanced sequencing and metabolomics for diagnosing metabolic disorders, indicating that this approach could be effective.
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.