Center for Rare Diseases
There are about 6,000-8,000 rare diseases in the world. While a disease may be rare in one part of the world but common in another, rare diseases altogether are not particularly rare. Rare diseases include a broad range of disorders, they are often chronic and progressive, and symptoms might occur at any time in life.
While we have some knowledge about rare diseases that have symptoms that appear during childhood, there is still a considerable knowledge gap within the field. The Karolinska Center for Rare Diseases (CSD) aims to improve knowledge and care for patients with rare diseases. These activities include continuous engagement in creating multidisciplinary expert teams to enable adequate care for all patients. Moreover, CSD offers education, guidance, and information and works closely with specialized regional and national expert teams.
Regional multidisciplinary expert teams
The Center for Rare Diseases at Karolinska collaborates with expert resources within Region Stockholm – Gotland. An Expert team is multidisciplinary and consists of several specialists from different areas of competence. The overall goal of expert teams is to improve the care of patients with rare diseases. Currently, there are 50 expert teams at Karolinska (link to CSD swe).
The European Reference Networks (ERN)
At Karolinska, numerous expert teams have been created, including specialists with extensive knowledge of rare diseases, thereby 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 the following 20 of the 24 ERN networks