Where did the UNC Rare Disease Network come from?
The Rare Disease Network at UNC originated in the fall of 2024, with the “Rare Diseases: Opportunities, Challenges, and Future at UNC” workshop. This workshop gathered clinicians, researchers, and patient advocates at UNC, and focused on brainstorming strategies to advance rare disease diagnosis and care at UNC. Using these insights, we have begun to move forward with strategic planning to improve the rare disease space at UNC Health and across the region.
View the Executive Workshop Summary.
What does the UNC Rare Disease Network look like?
The UNC Rare Disease Network has four principal components:
- Identify patients through:
- A symptomatic positive or negative work-up
- At risk due to family history
- A positive screening
- Diagnose and Triage patients through:
- A traditional consultation
- Facilitated testing/referral
- Genomic medicine boards
- E-consults
- Manage and Coordinate Care of patients depending on rare disease diagnosis:
- Rare Disease Unlikely – leave network
- Undiagnosed Diseases and Diagnosed Diseases filtered into:
- Ultra-Rare Disease Clinic(s)
- Multidisciplinary Clinic(s)
- Research, which consists of:
- Clinical and Translational Research
- Basic Science Research
- Rare Disease Registries
Each of the four components are interconnected, and the network relies heavily on collaboration across many areas of expertise.
Four Rare Disease Working Groups operate within these components:
Rare Disease Informatics, Integration, & Implementation (RDi3)
This group concentrates on working within the EHR to improve the Epic landscape for rare disease identification, diagnosis, and triaging.
Rare Disease Clinical Care Committee (RDc3)
Primarily clinicians, working to improve the management and coordination of rare disease care.
Rare Disease Research & Results Resource (RDr3)
Striving to build connections across UNC’s campus to drive rare disease research.
Rare Disease Education & Engagement Efforts (RDe3)
Focusing on rare disease awareness and education across the entire spectrum of the rare disease network, including among providers, researchers, patients, and the community.
Looking to join a Rare Disease working group? Visit the ‘Get Involved‘ tab to get started.