Detecting rare diseases earlier and helping patients get referred
RESCUE: Rare Disease Detection and Escalation Support via a Learning Health System
A computer tool that helps doctors find signs of rare diseases in medical records and prompt genetic testing and referrals for patients.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11191460 on NIH RePORTER |
What this research studies
This project builds a SMART-on-FHIR clinical decision support tool that scans electronic health records to flag patients who may have a rare disease. It uses natural language processing to pull clinical features from doctors' notes and converts them into standardized phenotype codes, then combines expert-curated rules with a neural network to identify likely cases. When a possible case is found, the system sends an alert to the clinician with a phenotype summary, suggested genetic/genomic test orders, and links to research opportunities. The tool will be piloted using the hospital's clinical data warehouse so eligible patients can be identified and followed for referral and testing.
Who could benefit from this research
Good fit: Patients whose records show unusual or unexplained symptoms and who receive care within a participating electronic health record system are the ideal candidates for being flagged.
Not a fit: Patients who receive care outside participating health systems or whose medical records lack sufficient documentation are unlikely to be flagged or benefit from this tool.
Why it matters
Potential benefit: If successful, this could help patients get diagnosed and referred for genetic testing sooner, shortening delays to care and support.
How similar studies have performed: Some decision-support tools exist for genetics specialists, but applying automated alerts in primary care using combined rule-based and neural-network methods is relatively new.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Liu, Cong — Boston Children's Hospital
- Study coordinator: Liu, Cong
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.