Improving diagnosis of rare genetic diseases in children using advanced algorithms.
Increasing the Yield and Utility of Pediatric Genomic Medicine with Exomiser
This study is working to make it easier and faster for kids with rare genetic diseases to get the right diagnosis by using advanced technology to analyze their genetic information.
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 ID | NIH-11097175 on NIH RePORTER |
What this research studies
This research focuses on enhancing the diagnosis of rare genetic diseases in children by utilizing advanced genomic sequencing techniques. It aims to reduce the lengthy and often frustrating diagnostic journey that many children face, which can take years and involve multiple specialists. By employing sophisticated algorithms to analyze genetic data, the project seeks to identify the underlying genetic causes of these diseases more efficiently. The use of the Human Phenotype Ontology (HPO) will aid in the computational analysis of clinical data, improving diagnostic accuracy.
Who could benefit from this research
Good fit: Ideal candidates for this research are children aged 0-11 years who are suspected of having a rare genetic disease.
Not a fit: Patients with common diseases or those outside the pediatric age range may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could significantly shorten the time it takes for children with rare genetic diseases to receive an accurate diagnosis, leading to timely and appropriate treatment.
How similar studies have performed: Previous research has shown success in using next-generation sequencing and computational algorithms for diagnosing genetic diseases, indicating that this approach is promising.
Where this research is happening
Bar Harbor, United States
- 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 below.