Advanced DNA Reading for Rare Diseases in Children
Official title: Long-read genome sequencing for the discovery of highly penetrant variation in rare diseases
Funded at Hudson-Alpha Institute for Biotechnology · NIH-11170608 · Data updated 2026-11-12
This project uses a new DNA sequencing method to find the genetic causes of rare diseases, especially neurodevelopmental disorders in children.
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 | 2025 |
| Award (this year) | $594,940 |
| NIH project number | 5R01HD112437-02 |
| Project ID | NIH-11170608 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are children aged 0-11 years old with rare diseases, especially neurodevelopmental disorders, and their parents.
✕Less likely to help
Patients whose conditions are not genetic in origin or who do not have rare neurodevelopmental disorders may not directly benefit from this specific genetic sequencing approach.
What this research studies
This project aims to improve how we find genetic causes for rare diseases, particularly neurodevelopmental disorders in children. Researchers will use a special DNA sequencing technology called "HiFi" that can find genetic changes missed by older methods. They plan to sequence the DNA of 500 children with these conditions and 200 of their parents to identify these hidden genetic clues. If a genetic cause is found, it will be confirmed and shared with families by a genetic counselor, if appropriate.
Why it matters
Potential benefit: If successful, this work could help families understand the genetic causes of rare diseases and potentially lead to better care or future treatments.
How similar studies have gone: Preliminary data suggests this new HiFi sequencing method can find disease-relevant genetic variants missed by standard approaches, indicating a novel but promising technique.
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.