Connecting genomic data with patient information for rare disease discovery
GeneMatcher, VariantMatcher and PhenoDB, implementation of new features and connections
This study is working on making it easier for doctors and researchers to share and understand genetic information about rare diseases, so they can find the genes that cause these conditions and help patients get better care.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project ID | NIH-11014947 on NIH RePORTER |
What this research studies
This research focuses on improving tools that help share genomic data and patient phenotypes, which are crucial for identifying genes linked to rare diseases. It builds on existing platforms like GeneMatcher and VariantMatcher, which connect researchers and clinicians globally to collaborate on genetic variants and their associated traits. By enhancing these tools, the project aims to facilitate better data sharing and interpretation, making it easier for users, including patients and healthcare providers, to analyze genetic information. The ultimate goal is to support the discovery of disease-causing variants and improve patient outcomes through better understanding of genetic conditions.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with rare genetic disorders or those undergoing whole exome or genome sequencing.
Not a fit: Patients with common genetic conditions or those not undergoing genetic testing may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to faster and more accurate identification of genetic causes of rare diseases, ultimately improving diagnosis and treatment options for patients.
How similar studies have performed: Previous initiatives like GeneMatcher and VariantMatcher have successfully connected researchers and clinicians, indicating a strong potential for success with this enhanced approach.
Where this research is happening
Baltimore, United States
- Johns Hopkins University — Baltimore, United States (Active)
Researchers
- Principal investigator: Sobreira, Nara — Johns Hopkins University
- Study coordinator: Sobreira, Nara
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.