International joint recommendations to address specific needs of undiagnosed Rare Disease patients

Read here the International Joint recommendations to address specific needs of undiagnosed Rare Diseases Patients

5 major recommendations: 

1. Undiagnosed Rare Disease Patients should be recognised as a distinct population with specific unmet needs by national authorities to enable development of personalised health and social care. Although some undiagnosed diseases are common, the vast majority are rare. Hence, in this paper we refer to undiagnosed patients as “undiagnosed rare disease patients”.
2. National sustainable programmes dedicated specifically for undiagnosed diseases should be developed and supported by appropriate authorities in each country to enable rapid and equitable access to diagnosis and social support.
3. Knowledge and Information sharing should be structured and coordinated at national and international levels to optimise use of existing resources and facilitate access for all undiagnosed rare disease patients.
4. Patients should be equally involved with other stakeholders in the governance of undiagnosed diseases programmes and international networks to adequately address the priorities of undiagnosed rare disease patients and contribute to improved healthcare.
5. Ethical and responsible international data sharing should be promoted through existing initiatives to support diagnosis, increase clinical collaboration, facilitate research, and accelerate treatment of undiagnosed and rare conditions.


  • SWAN UK (the support group run by Genetic Alliance UK)
  • Wilhelm Foundation (Sweden)
  • EURORDIS (Rare Diseases Europe)
  • Rare Voices Australia (RVA)
  • the Canadian Organization for Rare Disorders (CORD)
  • the Advocacy Service for Rare and Intractable Diseases’ stakeholders in Japan (ASrid)
  • the US National Organization for Rare Disorders (NORD)

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