Rare Diseases Working Group Luzern, 24 September 2010

Background Rare diseases one of the most peculiar topics of Internal Medicine (multi-systemic and complex) 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. patient mobility across European borders is a reality for people living with rare diseases.

There is a specific need of a common strategy for those diseases in Europe EFIM could play a major role not only from the clinical and research standpoints, but also with regards to more political issues.

Specific primary aims of the EFIM WG 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 coordinate European multicentric clinical trials

General and future aims of the Working Group To implement the comprehensive approach which is peculiar to Internal Medicine to rare diseases To support the development of appropriate EU public health policies 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

First possible proposed activities short on-line survey on the prevalence of rare diseases in Internal Medicine department across Europe on-line study aimed at evaluating the ability of Internists across Europe to recognize specific rare disease by means of the analysis of simple patient vignettes

Foreseen collaborations among EFIM Young Internist subcommittee Political issues working group Competencies working group