5-base HiFi sequencing to uncover genetic roots of pregnancy loss
Official title: 5-base HiFi sequencing to advance the understanding of genetic determinants of pregnancy loss
Funded at Children's Mercy Hosp (Kansas City, Mo) · NIH-11317241 · Data updated 2026-11-12
A comprehensive genomic resource will look for inherited or new genetic changes that explain unexplained pregnancy loss, by studying trios (child and both parents) and using advanced long-read DNA sequencing.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Mercy Hosp (Kansas City, Mo) NIH-funded |
| Lab location | 1 site (Kansas City, United States) |
| Project start | July 18, 2024 |
| Project end | April 30, 2029 |
| Funding year | 2026 |
| Award (this year) | $664,707 |
| NIH project number | 5R01HD115359-03 |
| Project ID | NIH-11317241 on NIH RePORTER |
Who could benefit from this research
✓Could help
Families experiencing unexplained recurrent pregnancy loss, including the affected child and both parents, who consent to long-read genomic testing and data linkage.
✕Less likely to help
Families without unexplained RPL or who do not participate in long-read sequencing or data sharing may not benefit.
What this research studies
This project will build a genomic resource by collecting carefully documented family trios affected by pregnancy loss and applying a state-of-the-art long-read sequencing method that also reads DNA methylation. It links genetic data with detailed medical records and biobank resources to find previously hidden genetic causes. The goal is to identify genetic variants that could explain why pregnancies end unexpectedly and to extend clinical workflows for diagnosis. The work translates hospital data and pediatric-biobank resources into insights that could inform future testing and care for families facing RPL.
Why it matters
Potential benefit: If successful, families experiencing pregnancy loss may receive clearer explanations and better-informed guidance for future pregnancies.
How similar studies have gone: Previous use of long-read sequencing in complex genetic conditions suggests potential to uncover novel causes, but applying triple-genome trio analysis to RPL is innovative.
Where this research is happening
-
Children's Mercy Hosp (Kansas City, Mo)
Kansas City, United States Active
Researchers
- Principal investigator: Grundberg, Elin — Children's Mercy Hosp (Kansas City, Mo)
- Study coordinator: Grundberg, Elin
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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.