Using CRISPR to improve genetic testing by removing pseudogenes
CRISPR-based depletion method for resolving pseudogene contamination in Next Generation Sequencing (NGS) based genetic testing
This study is looking at how to make genetic tests for newborns even better by using a special tool called CRISPR to remove confusing bits of DNA that can mess up the results, helping doctors find any serious genetic issues more accurately.
Quick facts
| Grant type | Sbir 1 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Jumpcode Genomics NIH-funded |
| Lab location | 1 site (San Diego, UNITED STATES) |
| Project ID | NIH-11066297 on NIH RePORTER |
What this research studies
This research focuses on enhancing next-generation sequencing (NGS) genetic tests by using CRISPR technology to eliminate pseudogenes, which are non-functional DNA sequences that can interfere with accurate genetic analysis. By degrading these pseudogenes, the study aims to improve the detection of disease-causing genetic mutations, particularly in newborn screening tests. The approach involves applying CRISPR-based depletion methods to refine library preparation workflows, thereby increasing the sensitivity and specificity of genetic tests. This could lead to more accurate diagnoses and better patient outcomes.
Who could benefit from this research
Good fit: Ideal candidates for this research are newborns undergoing genetic screening for inherited diseases.
Not a fit: Patients with genetic conditions that are not included in the newborn screening panel may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could significantly improve the accuracy of genetic testing, leading to better diagnosis and treatment options for patients with genetic disorders.
How similar studies have performed: Previous studies have shown promise in using CRISPR technology for genetic applications, indicating that this approach could be effective.
Where this research is happening
San Diego, UNITED STATES
- Jumpcode Genomics — San Diego, United States (Active)
Researchers
- Principal investigator: Brown, Keith — Jumpcode Genomics
- Study coordinator: Brown, Keith
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.