In collaboration with a global panel of experts, RDI has developed an internationally endorsed operational description of rare diseases, which explains what diseases are considered rare, how many people are affected, and why the rare disease community requires specific attention.
The Description is a common reference to improve the recognition of rare diseases within health systems and support the development of policies that address the challenges faced by Persons Living with a Rare Disease (PLWRD).
Improving health and social equity for Persons Living with a Rare Disease (PLWRD) and their families is increasingly recognised as a global policy priority.
This commitment is expressed in the Political Declaration on Universal Health Coverage (2019) which includes mention of rare diseases, and the UN Resolution on “Addressing the Challenges of Persons Living with a Rare Disease and their Families”, adopted in December 2022.
To develop and implement policies for PLWRD, public health agencies and governments need a common reference – a definition of rare diseases and their impact.
Attempts to define rare diseases often prioritise disease prevalence thresholds and frequency; in contrast, an operational description considers the specific clinical and qualitative challenges associated with the low prevalence of rare diseases.
The Operational Description will serve as a common point of reference to inform a wide range of stakeholders, including policymakers, and allow a baseline to monitor change at local, national, and international levels.
The proposed Operational Description of rare diseases describes WHAT diseases are considered rare, HOW MANY persons are affected, and WHY the rare disease community demands specific attention and policy action to address the impact and burden of rare diseases on patients, their caregivers and families, healthcare systems, and society overall.
The Description would describe:
- What diseases are considered rare
- How many persons are affected
- Why the rare disease community demands their specific attention.
RDI collaborates with a global panel of rare disease experts to propose an internationally recognised Operational Description of rare diseases composed of a core definition of rare diseases complemented by a descriptive framework.
|Roberta Anido de Pena||Iberoamerican Alliance for Rare Diseases (ALIBER), Federación Argentina de Enfermedades Poco Frecuentes (FADEPOF), Argentina|
|Diego Ardigò||Chiesi Pharmaceuticals, Italy|
|Gareth Baynam||Rare Care- Clinical Centre of Expertise for Rare and Undiagnosed Diseases, Perth Children’s Hospital, Western Australia, Australia|
|Hugh Dawkins||DA Precision Health, Australia|
|Ada Hamosh||Johns Hopkins School of Medicine, Online Mendelian Inheritance in Man (OMIM), USA|
|Robert Jakob||Health Statistics and Information Systems, World Health Organisation, Switzerland|
|Eva Krpelanova||Health Statistics and Information Systems, World Health Organisation, Switzerland|
|Yann Le Cam||EURORDIS – Rare Diseases Europe, France|
|Helen Malherbe||Rare Diseases South Africa, South Africa|
|Jane Millar||International Health Terminology Standards Development Organisation (IHTSDO), SNOMED International, UK|
|Caron Molster||Office of Population Health Genomics, West Australia Department of Health, Australia|
|Lucia Monaco||International Rare Diseases Research Consortium, Fondazione Telethon, Italy|
|Carmencita Padilla||University of the Philippines Manila, Philippines|
|Anne Pariser||National Center for Advancing Translational Sciences (NCATS), NIH, USA|
|Ana Rath||Orphanet, INSERM, France|
|Peter Robinson||The Jackson Laboratory, USA|
|Franz Schaefer||ERKnet European Reference Network, Heidelberg University Hospital, Germany|
|Stefanie Weber||Code Systems, Federal Institute for Drugs and Medical Devices (BfArM), Germany|
- Orphanet – Portal for rare diseases and orphan drugs
- Nguengang Wakap S, Lambert DM, Olry A, et al. “Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.”
- Haendel M, Vasilevsky N, Unni D, et al. “How many rare diseases are there?”
- Richter T, Nestler-Parr S, Babela R, et al. “Rare Disease Terminology and Definitions-A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group.”
Additional references and documents will be included
For more information, contact, Mary Wang