Improving Newborn Screening with Whole Genome Sequencing
Official title: Massively Parallel Biochemical Annotation of Missense DNA Variants to Support Newborn Screening by Whole Genome Sequencing
Funded at University of Washington · NIH-11176114 · Data updated 2026-11-12
This project aims to make newborn screening more accurate by better understanding genetic changes found through whole genome sequencing.
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 | 2025 |
| Award (this year) | $643,802 |
| NIH project number | 5R01HD115326-02 |
| Project ID | NIH-11176114 on NIH RePORTER |
Who could benefit from this research
✓Could help
This foundational research does not directly involve patient participation, but its future impact is on newborns who undergo genetic screening.
✕Less likely to help
Patients who are not newborns or those not undergoing whole genome sequencing for screening would not directly benefit from this specific research.
What this research studies
Current newborn screening checks for treatable conditions using blood tests, but many diseases lack clear markers. Whole genome sequencing offers a new way to screen newborns, but it can sometimes miss important genetic changes that are not well understood. This project is developing a new method to quickly and affordably identify which genetic changes might cause problems. We are creating a library of all possible protein changes and testing them in human cells to see how they affect protein function, which will help us better interpret genetic results for newborns.
Why it matters
Potential benefit: If successful, this work could lead to more comprehensive and accurate newborn screening, allowing for earlier diagnosis and treatment of many pediatric diseases.
How similar studies have gone: While the concept of newborn screening is well-established, this specific approach to massively parallel biochemical annotation of DNA variants for newborn sequencing is a novel technological development.
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
Related research
Other NIH-funded projects on the same topics.
-
Adaptive e-learning and smartphones to improve newborn and child care in Tanzania
A new program uses smart devices and tailored online learning to help frontline health workers in Mwanza, Tanzania provide better care for newborns and young children.
-
NoviGuide for Newborn Care in Pakistan
A small NIH grant to test a pocket-sized decision support tool for nurses and doctors to improve newborn care in Pakistan.
-
Newborn screening: using gene and metabolite data to refine true vs false positives
A study using genetic and metabolomic data from newborn blood spots to better distinguish real metabolic disorders from false alarms.
-
Evidence-based practices for managing neonatal hypothermia in newborn nurseries
A doctor-led project will study how common newborn hypothermia affects babies in US nurseries and develop trusted guidelines to improve care.
-
Agricultural livelihoods to improve health for pregnant women with HIV in Kenya
A pregnancy-starting program in Kenya tests whether helping families grow food and earn income can improve the health and nutrition of mothers and their babies, especially for women living with HIV.
-
Agricultural livelihood support for pregnant women and newborns in Kenya
Compares agricultural livelihood support to usual care to help pregnant women in Kenya—including those living with HIV—have better nutrition and healthier newborns.
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.