Improving diagnosis of rare diseases using a standardized terminology for phenotypic abnormalities
The Human Phenotype Ontology: Accelerating Computational Integration of Clinical Data for Genomics
This study is working to make it easier for doctors to diagnose rare diseases by using a special vocabulary to describe symptoms, which will help them find the right treatment for patients based on their unique characteristics.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Jackson Laboratory NIH-funded |
| Lab location | 1 site (Bar Harbor, United States) |
| Project ID | NIH-10896159 on NIH RePORTER |
What this research studies
This research focuses on enhancing the diagnostic process for rare diseases by utilizing the Human Phenotype Ontology (HPO), which provides a standardized vocabulary for describing phenotypic abnormalities. By automating the curation of disease-phenotype annotations, the project aims to improve the accuracy and comprehensiveness of these descriptions, thereby facilitating better differential diagnosis and clinical care. The integration of genomic data with phenotypic information will support precision medicine approaches, allowing for more tailored treatments based on individual patient characteristics.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with rare diseases who may benefit from enhanced diagnostic processes and precision medicine.
Not a fit: Patients with common diseases or conditions that do not involve rare disease phenotypes may not receive benefits from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and improved treatment options for patients with rare diseases.
How similar studies have performed: Previous research has shown success in using standardized terminologies and automated processes to improve diagnostic accuracy in various medical fields.
Where this research is happening
Bar Harbor, United States
- Jackson Laboratory — Bar Harbor, United States (Active)
Researchers
- Principal investigator: Robinson, Peter Nicholas — Jackson Laboratory
- Study coordinator: Robinson, Peter Nicholas
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.