Collaborations on rare diseases

The Karolinska Center for Rare Diseases (CSD)

The Karolinska Center for Rare Diseases (CSD) was established to close a critical gap: despite the high number of people living with rare conditions, knowledge and coordinated care remain scarce. CSD brings together multidisciplinary expert teams to ensure that patients receive the right diagnosis, the right guidance, and the right care, regardless of how uncommon their condition is.

The center provides education, guidance, and information, and works in close partnership with specialized regional and national teams across Sweden.

Collaborating partners

CSD in Collaboration (CSD i samverkan)
A national network working to raise awareness and improve living conditions for people with rare diagnoses. Through collaboration between healthcare providers, social actors, and patient organizations, CSD in Collaboration ensures that patients at every university hospital in Sweden can access guidance, referrals, and information.

National and Regional Programme Areas (NPOs)
Sweden's 26 NPOs drive knowledge management across distinct medical fields. Each NPO assembles leading experts with broad, region-spanning competence — ensuring that rare disease expertise is never siloed in one place.

Genomic Medicine Sweden (GMS)
GMS is Sweden's national initiative for precision medicine. By coordinating the introduction of advanced genomic diagnostics, GMS opens new pathways for earlier and more accurate diagnosis and treatment of rare diseases.

ECLip – European Consortium for Lipodystrophies

In a significant milestone for our internationalization strategy and our commitment to building unique clinical expertise, Karolinska University Hospital has been designated a clinical and research reference center for lipodystrophies.

Lipodystrophies are a group of rare diseases characterized by morphological and/or functional impairment of adipose (fatty) tissue. The conditions are distinct from obesity and unrelated to fat loss caused by malnutrition, wasting diseases such as cancer, or certain endocrine disorders.

ECLip: the European Consortium for Lipodystrophies — is a fully operational network of European Centers of Excellence working in this field. As a member of ECLip, Karolinska University Hospital contributes to and benefits from a network that:

• Provides an environment that enables and accelerates large-scale research studies across Europe
• Offers a shared platform to advance fundamental scientific understanding and develop better methods for diagnosing, preventing, and managing lipodystrophy
• Promotes, supports, and initiates European and international research in the field

European Reference Networks (ERN)

The numerous expert teams at Karolinska, including specialists with extensive knowledge of rare diseases, fulfill the EU criteria for Centers of Expertise. This has opened the door to participation in the European Reference Networks (ERN) on rare diseases, where Karolinska is a full member in 20 of the 24 networks.

The ERNs were formed on initiative from the European Commission and launched in 2017. Divided into thematic specialties, they bring together experts from across Europe with the aim of utilizing this wide, dispersed expertise to enhance knowledge of rare diseases and provide equal access to the best healthcare, including diagnosis, treatment, and follow-up.