The National Center for Rare Diagnoses is part of the national competence service for rare diagnoses, which comprises nine nationwide competence centers with approximately 200 employees. The centre's aim is to offer support and information to patients and relatives, with a focus on rights and opportunities within the health service. Through courses and training, they help to strengthen knowledge about rare diagnoses.
The center specializes in children and young people admitted to hospital, and emphasizes quality and interaction in healthcare services. In addition, they are engaged in research and innovation related to rare diagnoses, and collaborate with both national and regional health services. The National Center for Rare Diagnoses also offers laboratory services related to rare diagnoses, as well as a platform for learning and information through the website Sjelden.no. They also run the free consultation service Sjeldentelefonen, which is available to professionals, patients and relatives.