Developing precision medicine models to improve genetic disease diagnosis.
BCM Center for Precision Medicine Models
This study is working to improve how we diagnose genetic diseases by using advanced technology and animal models, like fruit flies and mice, to better understand unclear genetic changes, so we can find the causes of these conditions and create personalized treatments for patients.
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-10898608 on NIH RePORTER |
What this research studies
This research focuses on enhancing the diagnosis of genetic diseases through advanced technologies like clinical exome sequencing and whole genome sequencing. By utilizing precision models created from animal models such as fruit flies and mice, the study aims to better understand genetic variants that are currently classified as uncertain. This approach not only seeks to identify the underlying causes of genetic disorders but also to develop personalized management and therapeutic strategies for affected patients. The research involves collaboration among various programs dedicated to gene discovery and animal modeling, which will help in interpreting genetic data more effectively.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with suspected genetic disorders who have not yet received a definitive diagnosis.
Not a fit: Patients with well-defined genetic conditions that have already been diagnosed and for which effective treatments exist may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could significantly increase the diagnostic rates for patients with suspected genetic diseases, leading to more effective and personalized treatment options.
How similar studies have performed: Previous research has shown success in using similar genomic technologies and animal models to improve the understanding and diagnosis of genetic diseases.
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.