Understanding how DNA changes affect newborn health screening
Official title: Massively Parallel Biochemical Annotation of Missense DNA Variants to Support Newborn Screening by Whole Genome Sequencing
Funded at University of Washington · NIH-10901730 · Data updated 2026-11-12
This study is exploring a new way to improve newborn screening by using advanced DNA testing to find genetic changes that could lead to treatable health issues, helping doctors catch potential problems earlier and more accurately for babies.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project start | August 23, 2024 |
| Project end | June 30, 2028 |
| Funding year | 2024 |
| Award (this year) | $578,935 |
| NIH project number | 1R01HD115326-01 |
| Project ID | NIH-10901730 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are newborns, particularly those who may be at risk for genetic disorders that are currently difficult to screen for.
✕Less likely to help
Patients who are older than four weeks or those without genetic variants of interest may not benefit from this research.
What this research studies
This research focuses on improving newborn screening by using whole genome sequencing to identify genetic variants that may indicate treatable disorders. The approach involves creating a library of DNA sequences that represent every possible amino acid substitution in proteins, which are then expressed in human cells. By analyzing how these substitutions affect protein function, the research aims to provide better biochemical annotations for variants of unknown significance, ultimately enhancing early diagnosis for newborns. This innovative method seeks to address the limitations of current screening techniques that rely on biomarkers.
Why it matters
Potential benefit: If successful, this research could lead to more accurate and comprehensive newborn screenings, allowing for earlier diagnosis and treatment of genetic disorders.
How similar studies have gone: Other research has shown promise in using genetic sequencing for newborn screening, but this specific approach of massively parallel biochemical annotation is novel.
Where this research is happening
-
University of Washington
Seattle, United States Active
Researchers
- Principal investigator: Gelb, Michael H — University of Washington
- Study coordinator: Gelb, Michael H
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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.