Integrated genomic program for undiagnosed conditions
An integrated and diverse genomic medicine program for undiagnosed diseases
This program uses advanced genetic testing and other medical approaches to help children and adults with unexplained symptoms find a diagnosis.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Duke University NIH-funded |
| Lab location | 1 site (Durham, United States) |
| Project ID | NIH-11158872 on NIH RePORTER |
What this research studies
If you join, clinicians at Duke will expand the Undiagnosed Diseases Network to enroll more patients and focus on reaching people who face health disparities. Patients are evaluated in tiers based on diagnostic need, and those with prior non-diagnostic exome or genome tests will have their data re-analyzed. The team will use updated, phenotype-agnostic bioinformatics, additional genomic technologies, and non-genomic tests when appropriate to try to find causes. While there is a strong focus on pediatric genetic disorders, adults with unexplained conditions are also eligible.
Who could benefit from this research
Good fit: Children and adults with persistent, unexplained medical problems—especially those who have had prior non-diagnostic genetic testing—are ideal candidates.
Not a fit: People who already have a confirmed diagnosis or whose problems are clearly unrelated to genetic or biological causes may not benefit from this program.
Why it matters
Potential benefit: If successful, this could provide people with unexplained illnesses a clear diagnosis, new treatment or management options, or lead to discovery of new disease genes.
How similar studies have performed: The Undiagnosed Diseases Network and similar programs have already produced diagnoses for many patients using deep genomic analysis, although some cases remain unsolved.
Where this research is happening
Durham, United States
- Duke University — Durham, United States (Active)
Researchers
- Principal investigator: Shashi, Vandana — Duke University
- Study coordinator: Shashi, Vandana
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.