Improving newborn screening methods for genetic disorders
Official title: Optimal newborn screening algorithms - efficacy and equity
Funded at University of Alabama in Tuscaloosa · NIH-10790222 · Data updated 2026-11-12
This study is working to improve the way newborns are tested for genetic disorders like cystic fibrosis, especially for babies in underserved areas, so that all parents can trust their little ones are getting the right tests and care right from the start.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Alabama in Tuscaloosa NIH-funded |
| Lab location | 1 site (Tuscaloosa, United States) |
| Project start | September 10, 2024 |
| Project end | August 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $223,500 |
| NIH project number | 1R21HD113958-01 |
| Project ID | NIH-10790222 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include newborns, particularly those from African American populations, who are undergoing routine screening for genetic disorders.
✕Less likely to help
Patients who are not newborns or those who do not belong to populations targeted by the screening algorithms may not benefit from this research.
What this research studies
This research focuses on enhancing newborn screening (NBS) algorithms to ensure that all newborns, particularly those in underserved populations, receive accurate and timely testing for genetic disorders like cystic fibrosis. The project aims to create a comprehensive framework that optimizes the combination of tests used in NBS, addressing the variability in testing practices across different states. By analyzing existing screening methods and their outcomes, the research seeks to reduce false positives and negatives, ultimately improving the effectiveness of early diagnosis and treatment for newborns. Parents of newborns will benefit from more reliable screening processes that can lead to better health outcomes for their children.
Why it matters
Potential benefit: If successful, this research could lead to more accurate and equitable newborn screening, ensuring early detection of genetic disorders and improved health outcomes for affected infants.
How similar studies have gone: Previous research has shown that optimizing screening algorithms can significantly improve diagnostic accuracy and reduce healthcare costs, indicating a promising avenue for this study.
Where this research is happening
-
University of Alabama in Tuscaloosa
Tuscaloosa, United States Active
Researchers
- Principal investigator: Bish, Douglas — University of Alabama in Tuscaloosa
- Study coordinator: Bish, Douglas
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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.