Creating animal models to understand genetic variants in rare disorders
UAB Pilot Center for Precision Animal Modeling (C-PAM)
This study is looking for specific genetic changes that cause rare disorders, using advanced technology to help understand how these changes affect health, and it's designed for people with these rare conditions and their families.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Alabama at Birmingham NIH-funded |
| Lab location | 1 site (Birmingham, United States) |
| Project ID | NIH-10914823 on NIH RePORTER |
What this research studies
This research focuses on identifying and confirming genetic variants that cause rare disorders by using advanced whole genome sequencing technologies. A team of experts will analyze these variants through a detailed bioinformatic approach and create animal models that mimic human diseases. By evaluating these models, researchers aim to better understand the relevance of these genetic variants to human health. This collaborative effort combines expertise from various fields, including genetics, clinical diagnosis, and computational science.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with rare genetic disorders who have undergone whole genome sequencing and have identified potential genetic variants.
Not a fit: Patients with common disorders or those who have not undergone genetic testing may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and treatment options for patients with rare genetic disorders.
How similar studies have performed: Other research has shown success in using animal models to validate genetic variants, making this approach promising and not entirely novel.
Where this research is happening
Birmingham, United States
- University of Alabama at Birmingham — Birmingham, United States (Active)
Researchers
- Principal investigator: Yoder, Bradley K. — University of Alabama at Birmingham
- Study coordinator: Yoder, Bradley K.
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.