Integrated genomic medicine program for undiagnosed diseases
Official title: An integrated and diverse genomic medicine program for undiagnosed diseases
Funded at Duke University · NIH-11537645 · Data updated 2026-11-12
A Duke-led program helps people with undiagnosed diseases get faster, more accurate genetic diagnoses using advanced data tools and community partnerships.
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 start | August 1, 2014 |
| Project end | July 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $376,455 |
| NIH project number | 3U01NS134350-12S1 |
| Project ID | NIH-11537645 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with undiagnosed diseases who have previously undergone genetic testing but remain without a diagnosis.
✕Less likely to help
Patients whose condition remains undiagnosed after comprehensive reevaluation may not benefit.
What this research studies
If you have an undiagnosed condition, this program uses deep genetic analysis, updated patient information, and new AI-assisted methods to try to find a diagnosis. The team will reevaluate past cases, review medical records, and conduct telehealth exams to gather fresh symptoms and history. They also plan to involve communities and caregivers to ensure the process is accessible and responsive to patient needs.
Why it matters
Potential benefit: If successful, participants may receive clearer diagnoses and better-informed care plans.
How similar studies have gone: Previous phases showed progress in diagnosing undiagnosed diseases, with ongoing improvements through data-driven analysis and collaboration.
Where this research is happening
-
Duke University
Durham, United States Active
Researchers
- Principal investigator: Shashi, Vandana — Duke University
- Study coordinator: Shashi, Vandana
Related research
Other NIH-funded projects on the same topics.
-
Investigating genetic factors in Lewy body diseases
This study is looking at how changes in a specific gene might play a role in conditions like Parkinson's disease and dementia, so that people can better understand how their genetics affect their health and possibly find more tailored treatments.
-
Targeting the PAX3-FOXO1 protein in a deadly childhood cancer
This study is looking at a specific protein that helps a tough childhood cancer called alveolar rhabdomyosarcoma, with the goal of finding new ways to treat kids who have this illness.
-
Improving population health by studying reproduction and development
This study is looking at how different things in our environment can impact pregnancy and the health of babies, and it’s for people who are planning to have children or are already parents, as it aims to help improve understanding and outcomes for everyone involved.
-
Modeling axon degeneration in C. elegans to help ALS patients
Researchers are using a tiny worm model to uncover how axons break down, which could point to new ways to help people with ALS and related nerve diseases.
-
Induced Suppression of Platelet Activity in Aneurysmal SAH Management
A new approach tests whether carefully reducing platelet activity can improve outcomes after aneurysmal subarachnoid hemorrhage.
-
AI-enhanced virtual reality tool to support remote emergency brain surgery training in Tanzania
A new AI-powered virtual reality tool helps non-experts in low-resource areas get real-time remote guidance for emergency traumatic brain injury surgery.
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.