Identifying genetic causes of rare diseases in children using advanced DNA sequencing
Long-read genome sequencing for the discovery of highly penetrant variation in rare diseases
This study is looking to find hidden genetic clues that might explain rare brain development disorders in kids by analyzing DNA from 500 affected children and their parents, so families can better understand their child's condition.
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-10881397 on NIH RePORTER |
What this research studies
This research aims to enhance the identification of genetic factors contributing to rare diseases, particularly neurodevelopmental disorders in children. By utilizing a cutting-edge DNA sequencing technology called HiFi from Pacific Biosciences, the project will sequence the genomes of 500 affected children and their parents to uncover genetic variants that may have been overlooked by traditional methods. The study will generate detailed genetic maps and analyze the data to pinpoint variants that could be linked to the children's symptoms. If relevant variants are identified, genetic counselors will communicate these findings to the families, providing them with valuable insights into their child's condition.
Who could benefit from this research
Good fit: Ideal candidates for this research are children under 11 years old who are affected by rare neurodevelopmental disorders.
Not a fit: Patients who do not have rare genetic disorders or are over the age of 11 may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and targeted treatments for children with rare genetic disorders.
How similar studies have performed: Previous research using advanced genome sequencing technologies has shown promise in identifying genetic variants associated with various conditions, suggesting a strong potential for success in this approach.
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.