Chairman : Lorenzo Dagna
To promote the awareness on Rare Diseases in Europe and to imagine common European strategies for patients with rare diseases.

Rare diseases are one of the most characteristic topics of Internal Medicine, since they are multi-systemic and complex. Rare diseases are characterized by a broad diversity of disorders and symptoms that vary not only from disease to disease, but also from patient to patient suffering from the same disease. Also, patient mobility across European borders is a reality for people living with rare diseases.

Specific primary aims of the Rare Diseases Working Group of EFIM are: 

  • to gather data on rare disease in European Internal Medicine departments;
  • to gain and share scientific knowledge about all rare diseases;
  • to increase the awareness on rare diseases among Internists across Europe;
  • to imagine and create specific curricular tracks on rare diseases for medical students and Internal Medicine residents;
  • to implement the development of European research projects on molecular and pathophysiologic aspects of rare disease;
  • to possibly coordinate future European multicentric clinical trials on rare diseases.

General and future aims of the Working group will be: 

  • to implement the comprehensive approach which is peculiar to Internal Medicine to rare diseases;
  • to support the development of appropriate EU public health policies for rare diseases;
  • to increase international cooperation in scientific research among EFIM members;
  • to coordinate studies aimed at developing new diagnostic and therapeutic procedures;
  • to support campaign aimed at raising public awareness of these disease in the EFIM Countries;
  • to provide comprehensive quality information to the rare disease community.


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