Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases.

ABSTRACT: Improving health and social equity for persons living with a rare disease (PLWRD) is increasingly recognized as a global policy priority. However, there is currently no international alignment on how to define and describe rare diseases. A global reference is needed to establish a mutual understanding to inform a wide range of stakeholders for actions. A multi-stakeholder, global panel of rare disease experts, came together and developed an Operational Description of Rare Diseases. This reference describes which diseases are considered rare, how many persons are affected and why the rare disease population demands specific attention. The operational description of rare diseases is framed in two parts: a core definition of rare diseases, complemented by a descriptive framework of rare disea

SUBMITTER: Wang CM 

PROVIDER: S-EPMC11389069 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature