Using data science to find rare diseases in health records
Integrative data science approaches for rare disease discovery in health records
This study is working to make it easier and faster to diagnose rare diseases by looking at a lot of health records and genetic information, so that people can get the right help sooner, especially those whose conditions might not be noticed until they are adults.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-10839995 on NIH RePORTER |
What this research studies
This research aims to improve the diagnosis of rare diseases by analyzing large health record datasets. It combines electronic health records with genomic data and uses advanced techniques like machine learning and natural language processing to identify patterns and characteristics of these diseases. By integrating various data sources, the project seeks to enhance the accuracy and speed of diagnosing conditions that often go undetected until adulthood. This approach could lead to better patient outcomes by facilitating timely and precise diagnoses.
Who could benefit from this research
Good fit: Ideal candidates for this research are adults who may have undiagnosed rare genetic disorders or have experienced delays in diagnosis.
Not a fit: Patients with common diseases or those whose conditions are already well understood may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to earlier and more accurate diagnoses for patients with rare diseases, improving their quality of life.
How similar studies have performed: Previous research has shown promise in using data science techniques for disease identification, indicating that this approach could be effective.
Where this research is happening
New York, United States
- Icahn School of Medicine at Mount Sinai — New York, United States (Active)
Researchers
- Principal investigator: Pejaver, Vikas Rao — Icahn School of Medicine at Mount Sinai
- Study coordinator: Pejaver, Vikas Rao
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.