Developing precision medicine models to diagnose genetic diseases
BCM Center for Precision Medicine Models
This study is exploring new ways to use advanced genetic testing to help people who might have genetic diseases get a clearer diagnosis, so they can receive better treatment and support tailored just for them.
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-11175113 on NIH RePORTER |
What this research studies
This research focuses on utilizing advanced genomic technologies such as clinical exome sequencing and whole genome sequencing to improve the diagnosis of patients with suspected genetic diseases. By creating precision models using genetic modification techniques in fruit flies and mice, the research aims to better understand the clinical significance of genetic variants that are currently unclear. This approach not only helps in identifying new disease genes but also aids in developing personalized management and therapeutic strategies for patients. The ultimate goal is to reduce the number of undiagnosed genetic conditions by providing clearer insights into the genetic basis of these diseases.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with suspected genetic diseases who have not yet received a definitive diagnosis.
Not a fit: Patients with well-defined genetic conditions that are already diagnosed and understood may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could significantly enhance the accuracy of genetic diagnoses and lead to more effective personalized treatments for patients with genetic disorders.
How similar studies have performed: Previous research has shown success in using genomic technologies and animal models to uncover genetic disease mechanisms, indicating that this approach has potential for impactful outcomes.
Where this research is happening
Houston, United States
- Baylor College of Medicine — Houston, United States (Active)
Researchers
- Principal investigator: Heaney, Jason D. — Baylor College of Medicine
- Study coordinator: Heaney, Jason D.
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.