Collaborations on rare diseases, including the European Reference Networks
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.
- Pediatric transplantation - ERN TRANSPLANT-CHILD
- Solid extracranial tumours in children - ERN PaedCan
- Rare and complex connective tissue and musculoskeletal diseases - ERN ReCONNET
- Rare endocrine diagnoses - Endo-ERN
- Rare gastrointestinal diagnoses – ERNICA
- Rare gynaecological tumour diseases - ERN EURACAN
- Rare haematological diseases - ERN EuroBloodNet
- Rare immunodeficiency and immunological diseases - ERN RITA
- Rare craniofacial diagnoses - ERN CRANIO
- Rare vascular diseases - ERN VASCERN
- Rare liver diseases - ERN RARE-LIVER
- Rare lung diseases (cystic fibrosis) - ERN-LUNG
- Rare congenital metabolic diseases – MetabERN
- Rare congenital urogenital diagnoses - ERN eUROGEN
- Rare neurological diseases - ERN-RND
- Rare neuromuscular diseases - ERN EURO-NMD
- Rare kidney diseases – ERKNet
- Rare skeletal diagnoses - ERN BOND
- Rare syndrome with malformations and/or mental retardation - ERN ITHACA
- Hereditary cancer syndrome - ERN GENTURIS