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Collaborations on rare diseases, including the European Reference Networks

Rare diseases include a broad range of disorders, often chronic and progressive. A rare disease is actually not particularly rare since there are about 6,000-8,000 worldwide.  

The Karolinska Center for Rare Diseases

The Karolinska Center for Rare Diseases (CSD) aims to improve knowledge and care for patients with rare diseases since there is still a considerable knowledge gap within the field.  

The activities include continuous engagement in creating multidisciplinary expert teams to provide adequate patient care. Moreover, the center offers education, guidance, and information and works closely with specialized regional and national expert teams.

CSD cooperates with: 

  • CSD i samverkan i Sverige

The CSD in Collaboration works today primarily to increase knowledge in the field of rare diagnoses. CSD collaborates with representatives of health care, other social actors and interest organizations to improve the living conditions for people living with rare health conditions and their relatives. At the various university hospitals in Sweden, patients can contact CSD for guidance, referral and information.

  • National and regional program areas (NPOs)

There are 26 NPOs that conduct knowledge management within their respective fields. An NPO consists of experts with broad competence in each area, and representation from all healthcare regions. 

  • Genomic Medicine Sweden (GMS)

GMS coordinates the introduction of precision medicine and paves the way for better diagnostics, care and treatment in Sweden.

The European Reference Networks (ERN)

Due to the numerous expert teams created at Karolinska, including specialists with extensive knowledge of rare diseases, we are fulfilling the EU criteria for centers of Expertise. This has been a great door-opener for participation in the European Reference Networks (ERN) on rare diseases. Karolinska is represented as a full member in 20 different ERNs. 
The ERNs have been formed based on an initiative from the European Commission (EC), and the 24 ERNs were launched in 2017. These networks are divided into thematic specialties and gather experts from all over Europe. The aim of ERNs is to utilize this broadly dispersed and wide expertise and enhance the knowledge of rare diseases to provide equal access to the best healthcare, including diagnosis, treatment, and follow-up. Karolinska University Hospital plays a leading part, with participation in 20 of the 24 ERN networks.

Aiming to improve knowledge, competence, and care for all patients with rare diseases