Creating a fast genomic testing platform for newborns in intensive care
Official title: CTSA RC2 Program at University of Utah: A Translational Platform for Rapid Genomic Medicine
Funded at University of Utah · NIH-11091508 · Data updated 2026-11-12
This study is working on a new, quick way to use genetic testing in the NICU to help doctors better diagnose rare genetic conditions in newborns, making it easier for them to understand the results and provide the best care.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Utah NIH-funded |
| Lab location | 1 site (Salt Lake City, United States) |
| Project start | June 5, 2023 |
| Project end | May 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $769,998 |
| NIH project number | 5RC2TR004391-03 |
| Project ID | NIH-11091508 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are newborns admitted to the NICU who may be experiencing unexplained medical conditions potentially linked to genetic disorders.
✕Less likely to help
Patients who are not in the NICU or do not have suspected genetic conditions may not benefit from this research.
What this research studies
This research aims to develop a rapid genomic diagnostic platform specifically for use in the newborn intensive care unit (NICU). By addressing barriers to the implementation of genomic medicine, the project will create tools and strategies that integrate genomic testing into clinical care. The focus is on improving the accuracy of diagnosing rare genetic diseases and ensuring that healthcare teams can effectively interpret genomic data. The approach includes designing user-friendly software that interfaces with electronic health records to facilitate real-time decision-making for patient care.
Why it matters
Potential benefit: If successful, this research could significantly enhance the speed and accuracy of diagnosing genetic conditions in newborns, leading to better-targeted treatments.
How similar studies have gone: Other research has shown promise in using genomic sequencing in clinical settings, particularly in NICUs, indicating that this approach has potential for success.
Where this research is happening
-
University of Utah
Salt Lake City, United States Active
Researchers
- Principal investigator: Tristani-Firouzi, Martin — University of Utah
- Study coordinator: Tristani-Firouzi, Martin
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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.