Rare Disease at UNC
What is the Rare Disease Initiative?
Although a rare disease is defined as one affecting fewer than 200,000 people in the United States, rare diseases as a whole are not as uncommon as they seem! In fact, they affect roughly 10% of the population. Access to appropriate medical expertise on rare diseases is often limited, and obtaining care can be challenging and frequently very fragmented across specialties. Additionally, there are gaps in the translation of rare disease research to clinical care, and many EHR systems are not well-equipped for documenting information about rare diseases. By gathering clinicians, researchers, and patient advocates in the rare disease space at UNC, we strive to come together and improve rare disease research, diagnosis, care, and management at UNC.
Want to get involved?
We are in the process of launching four rare disease working group at UNC!
Please see below for descriptions of each working group and take the survey if you are interested in participating.
- Identifying Patients with Rare Disease Working Group
Concentrating on the identification of patients with rare disease. This group will work in the EHR to improve the Epic landscape for rare disease diagnosis, including electronic phenotyping, computational decision support (“Zebra Button” and “Zebra Flag”), e-consults, and enhanced triage process for patients with rare disease concerns.
- Rare Disease Clinical Care Task Force
Primarily clinicians, working on improving the harmonization of the clinical care teams diagnosing and treating rare disease. Principally, identifying existing multidisciplinary care teams and key areas where additional multidisciplinary clinics are needed.
- Research for Rare Disease Working Group
Bench and computational scientists are vital in the diagnosis and treatment of rare disease. This group’s focus will be to increase connections across UNC’s campus to drive research in rare diseases. Strategies include developing a rare disease patient registry, potential biobanking to generate materials for research, computational approaches, collaboration on development of rare disease treatment therapies, and leveraging existing laboratory capabilities and animal modeling for rare disease research.
- Rare Disease Education & Outreach Working Group
Focusing on rare disease awareness among providers, patients, and the community. This includes activities such as planning Rare Disease Day events and improving patient and provider education. This group will utilize the ongoing education and outreach efforts of the PPMH Education Initiative.
New Rare Disease at UNC website coming soon!!!