Improving genetic disease diagnosis through advanced sequencing technologies
Preclinical/Co-Clinical Section
This study is all about finding better ways to diagnose genetic diseases by using advanced DNA testing methods, so if you or someone you know has a suspected genetic condition, this research could help uncover the right answers and lead to more personalized treatments.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project ID | NIH-10898621 on NIH RePORTER |
What this research studies
This research focuses on enhancing the diagnosis of genetic diseases using advanced techniques like clinical exome sequencing and whole genome sequencing. By identifying molecular DNA lesions in patients, the study aims to increase the diagnostic rate for those with suspected genetic conditions. It also explores the use of new technologies such as mRNA sequencing and metabolomics profiling to discover new disease genes and improve personalized treatment approaches. Collaborations between clinician scientists and model organism researchers are key to this effort, helping to clarify the clinical significance of genetic variants.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with suspected genetic diseases who have not yet received a definitive diagnosis.
Not a fit: Patients with well-defined genetic conditions that have already been diagnosed may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could significantly improve the accuracy and speed of genetic disease diagnoses, leading to better-targeted treatments for patients.
How similar studies have performed: Previous research has shown success in using genomic sequencing technologies to improve genetic diagnoses, indicating a promising path for this study.
Where this research is happening
Houston, United States
- Baylor College of Medicine — Houston, United States (Active)
Researchers
- Principal investigator: Burrage, Lindsay C — Baylor College of Medicine
- Study coordinator: Burrage, Lindsay C
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.