Improving diagnosis for patients with undiagnosed diseases
Clinical Research Support Core
This study is working to help people with rare and undiagnosed diseases get the right diagnosis faster by using advanced technology and connecting them with experts who can help.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Harvard Medical School NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11056823 on NIH RePORTER |
What this research studies
This research aims to enhance the diagnostic process for patients with undiagnosed and rare diseases by scaling up the individualized translational research methods developed in the Undiagnosed Diseases Network (UDN) and the Undiagnosed Diseases Program (UDP). It will utilize computational models to predict diagnosis likelihood and integrate with national and international matchmaking networks to broaden access to expert consultations. The project will also establish Case Review Committee meetings to streamline evaluations and provide funding to support data sharing and coordination among diagnostic centers.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with undiagnosed or rare diseases seeking accurate diagnosis and treatment options.
Not a fit: Patients with well-defined and diagnosed conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could significantly improve diagnostic accuracy and access for patients with undiagnosed diseases.
How similar studies have performed: Previous research has shown success in improving diagnostic processes for rare diseases through collaborative networks and computational modeling.
Where this research is happening
Boston, United States
- Harvard Medical School — Boston, United States (Active)
Researchers
- Principal investigator: Cole, Francis Sessions — Harvard Medical School
- Study coordinator: Cole, Francis Sessions
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.