Faster newborn heel‑prick blood test to find treatable genetic conditions
Official title: Development of a Multiplex Proteomics Assay for High-Throughput Newborn Screening of a New Set of Treatable Neonatal Diseases
Funded at Seattle Children's Hospital · NIH-11283949 · Data updated 2026-11-12
This project is building a quicker dried‑blood‑spot test to detect many treatable genetic diseases in newborn babies.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Seattle Children's Hospital NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project start | April 19, 2023 |
| Project end | January 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $631,258 |
| NIH project number | 5R01HD111410-04 |
| Project ID | NIH-11283949 on NIH RePORTER |
Who could benefit from this research
✓Could help
Newborn infants (days to weeks old) whose routine dried blood spot is collected for newborn screening would be the ideal candidates for this testing approach.
✕Less likely to help
Older children, adults, or people with conditions that do not change the amount of a target protein in a dried blood spot are unlikely to benefit directly from this newborn screening method.
What this research studies
From a newborn's routine heel‑prick blood spot, researchers will capture tiny amounts of specific proteins and tag them so many conditions can be checked at once. They will use an advanced mass‑spectrometry method (Immuno‑SRM) adapted with newborn‑specific peptide tags to speed up and expand testing. The goal is to reliably detect low‑level proteins that indicate genetic diseases even when enzyme or small‑molecule markers aren't present. If successful, this could let screening labs add new treatable disorders, such as Bourneville (tuberous sclerosis) related conditions, to routine newborn screening panels.
Why it matters
Potential benefit: If successful, this could find treatable genetic disorders earlier so infants can start lifesaving or disease‑modifying care sooner.
How similar studies have gone: Related Immuno‑SRM methods have been used successfully to measure proteins in dried blood spots, but expanding multiplexing and speeding up the workflow for broad newborn screening is a new advance.
Where this research is happening
-
Seattle Children's Hospital
Seattle, United States Active
Researchers
- Principal investigator: Hahn, Sihoun — Seattle Children's Hospital
- Study coordinator: Hahn, Sihoun
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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.