Long-read genome sequencing to find disease-causing genetic variants in rare pediatric neurodevelopmental disorders
Official title: Long-read genome sequencing for the discovery of highly penetrant variation in rare diseases
Funded at Hudson-Alpha Institute for Biotechnology · NIH-11355486 · Data updated 2026-11-12
Rare diseases in children may be caused by genetic variants that current sequencing misses, and this project tests a new long-read sequencing approach to uncover them.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Hudson-Alpha Institute for Biotechnology NIH-funded |
| Lab location | 1 site (Huntsville, United States) |
| Project start | August 16, 2024 |
| Project end | June 30, 2029 |
| Funding year | 2026 |
| Award (this year) | $589,008 |
| NIH project number | 5R01HD112437-03 |
| Project ID | NIH-11355486 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children with neurodevelopmental disorders (especially in the 0-11 age range) who have not yet received a clear genetic explanation.
✕Less likely to help
Some families may not receive a definitive diagnosis or clinical actionability from the results.
What this research studies
This grant supports sequencing 500 affected children with a advanced long-read platform to capture complex genetic variation, with 200 of them also sequenced alongside their parents. The team will build detailed maps of each child’s genome and compare results to identify variants that could explain their neurodevelopmental symptoms. They will benchmark methods to balance accuracy, data quality, and cost, and use established clinical standards to interpret the findings. If a potential disease-causing variant is found, it will be confirmed with additional tests and discussed with families through genetic counseling. The work aims to improve our ability to translate genetic signals into meaningful information for families affected by rare neurodevelopmental disorders.
Why it matters
Potential benefit: If successful, this approach could reveal previously missed genetic causes of rare pediatric neurodevelopmental disorders, guiding diagnosis and future care.
How similar studies have gone: Preliminary data suggest long-read sequencing can reveal disease-relevant variants missed by standard approaches, but the field is still evolving.
Where this research is happening
-
Hudson-Alpha Institute for Biotechnology
Huntsville, United States Active
Researchers
- Principal investigator: Cooper, Gregory Michael — Hudson-Alpha Institute for Biotechnology
- Study coordinator: Cooper, Gregory Michael
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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.