Operational Definition of Rare Diseases

An operational definition of rare diseases would provide a common understanding of what constitutes a rare disease to improve the visibility of Persons Living with a Rare Disease (PLWRD) and support policy worldwide.

Turkey – cardiofaciocutaneous syndrome

RDI is working with a multi-stakeholder group of experts to develop an international operational definition of rare diseases as part of its Memorandum of Understanding with the WHO.

The policy document would serve as a shared reference to help inform the WHO and governments making policy decisions on rare diseases.

The definition will support implementation of the UN Resolution on “Addressing the challenges of Persons Living with a Rare Disease and their families”

Attempts to define rare diseases often prioritise disease prevalence thresholds and frequency; in contrast, an operational description would consider the specific clinical and qualitative challenges associated with the low prevalence of rare diseases.

Additional references and documents will be included

For more information contact, Mary Wang