Improving GeneMatcher, VariantMatcher, and PhenoDB to connect genes, variants, and patient symptoms
GeneMatcher, VariantMatcher and PhenoDB, implementation of new features and connections
This project upgrades online tools that help people with rare genetic conditions and their clinicians find others who share the same gene changes and clinical features.
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-11262286 on NIH RePORTER |
What this research studies
If you or a family member have a rare or undiagnosed genetic condition, this project is improving free online tools that let clinicians, researchers, and patients share genetic test results and detailed symptoms. The team is adding new features and better connections between GeneMatcher, VariantMatcher, and PhenoDB so matches across genes, specific variants, and phenotypes are easier to find. These platforms store genetic data (from whole-exome or whole-genome sequencing) and standardized symptom descriptions to prioritize variants and link similar cases worldwide. Participation is mainly online and can involve your clinician entering de-identified data to look for matches and collaborators.
Who could benefit from this research
Good fit: Ideal candidates are people with suspected or confirmed rare genetic disorders who have had or are willing to share whole-exome or whole-genome sequencing results along with detailed clinical features.
Not a fit: People with common non-genetic conditions, those without genetic test results, or those unwilling to share their data are unlikely to receive direct benefit from these tools.
Why it matters
Potential benefit: If successful, these enhancements could speed up genetic diagnosis, help you find other patients with the same variant, and connect you to researchers or clinicians working on related conditions.
How similar studies have performed: These platforms are already widely used and productive—GeneMatcher has over 10,000 users across 93 countries and is cited in hundreds of publications—so this work builds on proven resources.
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.