Newborn sequencing with rapid, affordable protein tagging to map amino-acid changes
Official title: Massively Parallel Biochemical Annotation of Missense DNA Variants to Support Newborn Screening by Whole Genome Sequencing
Funded at University of Washington · NIH-11370044 · Data updated 2026-11-12
A new method will quickly map all possible amino-acid changes in proteins to help interpret newborn genome data for faster, more accurate diagnoses.
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 | 2026 |
| Award (this year) | $638,960 |
| NIH project number | 5R01HD115326-03 |
| Project ID | NIH-11370044 on NIH RePORTER |
Who could benefit from this research
✓Could help
Newborns or infants whose health may be affected by genetic variants and whose screening could benefit from more precise interpretation of VOUS.
✕Less likely to help
Patients without genetic variants of uncertain significance or whose conditions are not linked to amino-acid substitutions may see limited benefit.
What this research studies
This project develops VOUSDO, a technology that links every possible amino-acid change in a protein to a readable barcode, allowing rapid interpretation of genetic variants in newborns. By expressing single protein variants in human cells and capturing barcode signals, it aims to show which substitutions may be harmful. The goal is to reduce false negatives in newborn sequencing by providing biochemical context for variants of unknown significance. If successful, this could streamline early detection of treatable conditions from whole-genome data. The work is conducted using a human-cell system to ensure relevance to patient care.
Why it matters
Potential benefit: If successful, it could improve the speed and accuracy of newborn diagnoses from genome sequencing, enabling earlier treatments.
How similar studies have gone: Prior methods struggled with interpreting VOUS; this approach introduces a scalable, direct biochemical readout which is novel in this context.
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.