Connecting diseases to model organism resources for better diagnosis and treatment
The Monarch Initiative: Linking Diseases to Model Organism Resources
This study is all about using different types of health information to better understand genetic diseases, helping doctors find the right genes linked to these conditions and improve treatments for patients with rare diseases.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of North Carolina Chapel Hill NIH-funded |
| Lab location | 1 site (Chapel Hill, United States) |
| Project ID | NIH-11134216 on NIH RePORTER |
What this research studies
This research focuses on improving the understanding of genetic diseases by integrating various data sources into a comprehensive collection of genotype-phenotype information. It utilizes a Knowledge Graph to link clinical and biomedical data across different organisms, which helps researchers and clinicians identify disease genes and optimize treatments. By enhancing tools and algorithms, the project aims to support rare disease diagnosis and gene-to-disease discovery, ultimately benefiting patients through improved diagnostic capabilities.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with rare genetic disorders or those seeking a better understanding of their genetic conditions.
Not a fit: Patients with common diseases that are well understood and do not have a genetic basis may not receive benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and targeted treatments for patients with genetic diseases.
How similar studies have performed: Previous phases of the Monarch Initiative have demonstrated success in using model organism data for rare disease diagnosis, indicating a promising approach.
Where this research is happening
Chapel Hill, United States
- Univ of North Carolina Chapel Hill — Chapel Hill, United States (Active)
Researchers
- Principal investigator: Haendel, Melissa a — Univ of North Carolina Chapel Hill
- Study coordinator: Haendel, Melissa a
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.