Improving access to diagnoses for people with rare and undiagnosed conditions
Increasing Diversity, Diagnostic Yield, and Efficiency in Clinical Evaluations of Rare Disorders
This program connects children and adults with unexplained health problems to specialists and genetic testing to help find a diagnosis more quickly.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Alabama at Birmingham NIH-funded |
| Lab location | 1 site (Birmingham, United States) |
| Project ID | NIH-11158916 on NIH RePORTER |
What this research studies
If you join, the UAB Undiagnosed Diseases Program will work with your referring clinician to gather medical records, lab results, and imaging while a nurse practitioner contacts you for consent and a detailed history. Your case summary is entered into PhenoTips and shared with the Undiagnosed Diseases Network Gateway so experts can review relevant findings. You may have telemedicine or in-person visits with UAB physicians and specialist consultants, and clinicians will order genetic tests and other studies as clinically needed. The team holds regular multidisciplinary reviews to coordinate testing, interpretation, and next steps toward diagnosis and care.
Who could benefit from this research
Good fit: Children and adults with chronic, unexplained medical problems who have seen clinicians previously and can provide medical records and a clinician referral are ideal candidates.
Not a fit: People who already have a clear diagnosis, cannot share medical records, or cannot participate in telemedicine or in-person visits are unlikely to benefit.
Why it matters
Potential benefit: This could help patients receive previously missed diagnoses, access targeted care or genetic counseling, and join research opportunities.
How similar studies have performed: Other sites in the Undiagnosed Diseases Network have successfully diagnosed many patients using coordinated clinical review, data sharing, and genetic testing, although some cases remain unsolved.
Where this research is happening
Birmingham, United States
- University of Alabama at Birmingham — Birmingham, United States (Active)
Researchers
- Principal investigator: Korf, Bruce R — University of Alabama at Birmingham
- Study coordinator: Korf, Bruce R
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.