Improving the identification of patients with rare genetic diseases using electronic health records.
Translating the Clinical Knowledge of Mendelian Diseases to Real-world EHR Data to Improve Identification of Undiagnosed Patients
This study is looking to help doctors find patients who might have rare genetic diseases that haven't been diagnosed yet by using information from their health records, so they can get the right tests and care faster.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Vanderbilt University Medical Center NIH-funded |
| Lab location | 1 site (Nashville, United States) |
| Project ID | NIH-10876485 on NIH RePORTER |
What this research studies
This research aims to enhance the identification of patients who may have undiagnosed rare genetic diseases by utilizing data from electronic health records (EHRs). It focuses on bridging the gap between clinical knowledge of genetic diseases and the real-world data captured in EHRs, which can help in recognizing patterns and characteristics of these conditions. By analyzing this data, the research seeks to develop algorithms that can better flag patients who would benefit from genetic testing, ultimately reducing diagnostic delays and improving patient outcomes.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals under 21 years old who exhibit symptoms of rare genetic diseases but have not yet received a diagnosis.
Not a fit: Patients with well-diagnosed genetic conditions or those who do not exhibit any symptoms of genetic diseases may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to earlier diagnoses and targeted treatments for patients with rare genetic diseases.
How similar studies have performed: Other research has shown promise in using electronic health records to identify undiagnosed conditions, suggesting that this approach could be effective.
Where this research is happening
Nashville, United States
- Vanderbilt University Medical Center — Nashville, United States (Active)
Researchers
- Principal investigator: Bastarache, Lisa — Vanderbilt University Medical Center
- Study coordinator: Bastarache, Lisa
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.