Increasing the usefulness of pediatric genomic medicine with Exomiser
Official title: Increasing the Yield and Utility of Pediatric Genomic Medicine with Exomiser
Funded at Jackson Laboratory · NIH-11534333 · Data updated 2026-11-12
A pediatric genetic diagnosis project is improving how we use sequencing data to find rare disease causes in children.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Jackson Laboratory NIH-funded |
| Lab location | 1 site (Bar Harbor, United States) |
| Project start | April 10, 2021 |
| Project end | March 31, 2031 |
| Funding year | 2026 |
| Award (this year) | $152,997 |
| NIH project number | 3R01HD103805-06S1 |
| Project ID | NIH-11534333 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children from birth up to 11 years who have suspected or undiagnosed genetic or genomic conditions and are undergoing diagnostic testing.
✕Less likely to help
Children without genetic conditions or whose diagnosis would not be impacted by improved genomic interpretation may not benefit.
What this research studies
This project aims to make Exomiser, a variant-prioritization tool, work better for diagnosing rare diseases in kids by leveraging the latest genome technologies. It combines long-read sequencing and other genomic data to shorten the diagnostic odyssey for children who have unclear genetic conditions. The work would inform clinicians and labs on how to apply advanced AI-assisted analyses to identify disease-causing gene variants more accurately and quickly. Participation would involve analyzing genomic data from pediatric patients to improve diagnostic yield and create more reliable decision support for doctors and families.
Why it matters
Potential benefit: If successful, children with suspected rare genetic diseases could receive clearer, faster diagnoses and more targeted care.
How similar studies have gone: Prior uses of Exomiser and similar genomic tools have informed diagnoses in undiagnosed diseases networks, with ongoing gains from advanced sequencing and AI methods.
Where this research is happening
-
Jackson Laboratory
Bar Harbor, United States Active
Researchers
- Principal investigator: Robinson, Peter Nicholas — Jackson Laboratory
- Study coordinator: Robinson, Peter Nicholas
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.