Improving Newborn Screening with Whole Genome Sequencing
Massively Parallel Biochemical Annotation of Missense DNA Variants to Support Newborn Screening by Whole Genome Sequencing
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 ID | NIH-11176114 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: This foundational research does not directly involve patient participation, but its future impact is on newborns who undergo genetic screening.
Not a fit: Patients who are not newborns or those not undergoing whole genome sequencing for screening would not directly benefit from this specific research.
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 performed: 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
Seattle, United States
- University of Washington — Seattle, United States (Active)
Researchers
- Principal investigator: Gelb, Michael H — University of Washington
- Study coordinator: Gelb, Michael H
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 below.