Improving diagnosis of rare genetic disorders in children
Methods for improving clinical diagnostic by detection, prediction, interpretation and prioritization of aberrant transcriptome variations
This study is working to improve how doctors diagnose rare genetic disorders in children by using new techniques to better understand their genes and RNA, helping to find answers for kids who haven't been diagnosed yet.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-10674723 on NIH RePORTER |
What this research studies
This research aims to enhance the clinical diagnosis of children suffering from rare Mendelian disorders by developing innovative methods. It employs two main approaches: the 'RNA-first' method, which identifies the best tissue for RNA sequencing to detect harmful RNA processing variations, and the 'DNA-first' method, which creates models to predict how genetic changes affect RNA processing. By integrating these methods into a clinical diagnostic pipeline, the research seeks to address undiagnosed cases at the Children Hospital of Philadelphia and other participating centers.
Who could benefit from this research
Good fit: Ideal candidates for this research are children with undiagnosed rare Mendelian disorders, particularly those who have undergone standard genetic testing without conclusive results.
Not a fit: Patients with common genetic disorders or those whose conditions are already well understood may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could significantly increase the diagnostic rate for rare genetic disorders in children, leading to better-targeted treatments.
How similar studies have performed: Previous research has shown promise in using advanced genetic testing methods to improve diagnosis rates, suggesting that this approach could yield significant advancements.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Barash, Yoseph — University of Pennsylvania
- Study coordinator: Barash, Yoseph
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.