/
/

About Rare Diseases

About Rare Diseases

A rare disease is often a little-known disease, and it is important to increase knowledge and awareness about these disorders. In Sweden, a disease is defined as rare when it affects fewer than 100 individuals per million population and leads to disability. Many different kinds of diseases are included in this category, and although each disorder is rare in itself, all in all a large number of people in Sweden are affected.

The Information Centre for Rare Diseases at the University of Gothenburg, which is responsible for the production of disease articles in the database, is one of several stakeholders in the field of rare diseases in Sweden. The Swedish National Agency for Rare Diseases (NFSD) promotes healthcare coordination and dissemination of rare disease information. The mission of Rare Diseases Sweden and other patient associations is to improve healthcare, raise awareness and contribute to the empowerment of people with rare diseases. Ågrenska is a meeting place for children, young people and adults with rare diseases and their families. Swedish University hospitals have formed rare disease centres, with the aim of coordinating medical and social interventions. For more information about the different stakeholders, see Medical centres of expertise, Other sources of information and Patient associations.

The rare disease database of the National Board of Health and Welfare

The database may be used by anyone interested in rare diseases, including healthcare professionals, social workers, public sector employees as well as individuals with rare diseases and those close to them.

The database currently has articles about approximately 300 rare diseases, a number of which have also been translated into English. New disease articles are added continuously, and the material is updated on a regular basis.

The rare disease articles are the result of collaboration between the Information Centre for Rare Diseases and leading medical specialists, as well as patient associations. Further quality assurance is provided as the texts are reviewed and approved by a group of experts on rare diseases, including specialists in fields such as genetics, neurology and habilitation, as well as patient representatives.

What is included in each disease article?

Each disease article contains information on occurrence, heredity, diagnostics, treatment, resources, research and reference literature. Short summaries of the disease articles are available as leaflets, accessible for download in PDF format. Personal accounts of what it is like to live with a rare disease are not included in the articles, but may be found on the websites of patient associations. The websites of the Swedish National Agency for Rare Diseases and Ågrenska also include personal accounts, films and other rare disease information.

Which diseases are included in the database?

The database provides information on disorders that affect fewer than 100 individuals per million population and which lead to disability. Although the database currently includes a large number of rare disease articles, it is not intended as a conclusive list of all rare diseases. Apart from fulfilling the general criteria concerning prevalence and disability, inclusion in the database also requires that the disease exists in Sweden, and that it is clearly distinguishable from other disorders. There also has to be a medical specialist in Sweden who can contribute to the disease article. Cancers or diseases caused by infections or medicinal products are not included.

How often are new disease articles added and how often are they revised?

Each year about 10-15 disease articles are added to the database. As a rule the texts are revised approximately every three years. Sometimes changes are made between revisions.

Expert group

The rare disease expert group reviews all disease articles before publication, and also suggests new diseases for inclusion in the database as well as medical specialists to provide the information. The members of the expert group are:

Representatives of the medical profession  

  • Anders Fasth (Chairman), Senior Professor of Paediatric Immunology, Division of Immunology and Rheumatology, The Queen Silvia Children’s Hospital
  • Olov Ekwall, Professor of Paediatric Immunology, Division of Immunology and Rheumatology, The Queen Silvia Children’s Hospital
  • Margareta Nilsson, Director of the paediatric habilitation services in Region Skåne.
  • Ingrid Olsson Lindberg, Associate Professor, Paediatric Neurology, The Queen Silvia Children’s Hospital
  • Göran Solders, Associate Professor, Neurology Clinic, Karolinska University Hospital
  • Elisabeth Syk Lundberg, Professor, Clinical Genetics, Karolinska University Hospital

Patient Representatives

  • Anneli Larsson, Director of PIO, The Primary Immunodeficiency Organization in Sweden
  • Maria Montefusco, Project leader, The Nordic Centre for Welfare and Social Issues

Director of the Swedish Information Centre for Rare Diseases

  • Lena Kolvik, The Swedish Information Centre for Rare Diseases

 

The Information Centre

The Swedish Information Centre for Rare Diseases at the University of Gothenburg is responsible for producing and updating the information in the database and acts as a national resource for all those seeking information on rare diseases. An important part of the Centre’s mission is to increase knowledge and raise awareness of rare diseases in Sweden.

The Swedish Information Center for Rare Diseases has broad competence and experience of producing quality-assured medical information. The centre also assists in retrieving further information on rare diseases and gives advice on where to turn to with questions. All enquiries are welcome.

The Swedish Information Centre for Rare Diseases
The Sahlgrenska Academy at the University of Gothenburg
Box 422, SE-405 30 Gothenburg
Sweden
Tel: +46 31 786 55 90
email: ovanligadiagnoser@gu.se 
www.ovanligadiagnoser.gu.se