Indiana network to help diagnose rare diseases
Indiana Collaborative for Undiagnosed Rare Disease
This program connects Indiana families and clinicians with genetics experts, sequencing, and telemedicine to help find diagnoses for people with suspected rare diseases, especially children.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Indiana University Indianapolis NIH-funded |
| Lab location | 1 site (Indianapolis, United States) |
| Project ID | NIH-11146631 on NIH RePORTER |
What this research studies
If you or your child has an unexplained condition, this Indiana collaborative links you to genetics specialists who can offer genomic testing, expert review, and telehealth visits. The program combines sequencing, bioinformatics (including AI tools), and centralized case review to search for molecular causes. The team partners with local clinicians and community groups to improve referrals, reach rural and underserved areas, and streamline access to diagnostics and follow-up care.
Who could benefit from this research
Good fit: Ideal candidates are Indiana residents or children with unexplained medical problems suggestive of a genetic or rare disease who are seeking diagnostic testing or specialist input.
Not a fit: People who already have a clear diagnosis, whose condition is unlikely to be genetic, or who cannot access Indiana-based services or telehealth are less likely to benefit from this program.
Why it matters
Potential benefit: If successful, the program could shorten the time to a genetic diagnosis and improve access to appropriate care and services for Indiana patients with rare conditions.
How similar studies have performed: Other undiagnosed disease programs and genomic sequencing clinics have increased diagnostic rates and changed care for many patients, though statewide outreach to underserved populations is less frequently implemented.
Where this research is happening
Indianapolis, United States
- Indiana University Indianapolis — Indianapolis, United States (Active)
Researchers
- Principal investigator: Ware, Stephanie M — Indiana University Indianapolis
- Study coordinator: Ware, Stephanie M
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.