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What is a Rare Disease?
A rare disease is defined as a condition that affects fewer than 1 in 200,000 patients in the United States or 1 in 2000 in Europe.
Many rare diseases are genetic (caused by change in DNA), which change can be inherited, spontaneous, or epigenetic. Since there are many genes (~20,000), there are many possible defects.
To date, about 7000 Rare Diseases have been identified.
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Welcome to the InfoHub
This portal provides access to a variety of information and resources for rare disease patients and their caregivers.
This portal is under development. We encourage you to provide feedback and share your insights so the InfoHub continues to improve to serve your needs.
You can visit our "What's New" page to see recent updates and changes being made to the project.
Our Mission
Our mission is to provide open access to information and resources that facilitate healthcare innovations and offer assistance and comfort to rare disease patients and their caregivers.
The Project
The InfoHub utilizes advanced computing techniques to:
- search, organize and present data related to rare disorders from multiple resources
- identify relationships that will facilitate development of innovative treatments for rare disorders
The InfoHub is the first deliverable of the three-component "Research Opportunities Initiative." The project also will include a portal to assist clinicians in the diagnosis of rare diseases and a portal to facilitate the research and development of rare disease treatments.
The Research Opportunities Initiative is being funded by the University of North Carolina System.
The University of North Carolina at Chapel Hill’s Eshelman School of Pharmacy and School of Medicine and NC State University’s Institute for Next Generation IT Systems (ITng) are leading the InfoHub project. Investigators from other UNC System institutions are collaborating, including North Carolina Central University and UNC-Pembroke.
What is a Rare Disease?
A rare disease is defined as a condition that affects fewer than 1 in 200,000 patients in the United States or 1 in 2000 in Europe.
Many rare diseases are genetic (caused by change in DNA), which change can be inherited, spontaneous, or epigenetic.
Since there are many genes (~20,000), there are many possible defects. To date, about 7000 Rare Diseases have been identified.
Our Partners
Chemotext
