Advanced DNA Reading for Rare Diseases in Children
Long-read genome sequencing for the discovery of highly penetrant variation in rare diseases
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 ID | NIH-11170608 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates are children aged 0-11 years old with rare diseases, especially neurodevelopmental disorders, and their parents.
Not a fit: 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.
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 performed: 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
Huntsville, United States
- 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
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 below.