Rare Diseases

Denna sida på svenska

In the context of Orphan Drugs, the Swedish Medical Products Agency (MPA) adheres to the European Orphan Drug Regulation definition of a prevalence of below 1 in 2000 individuals. However, the information database of the Swedish National Board of Health and Welfare defines rare diseases as "Disorders or injuries resulting in extensive handicaps and affecting no more than 100 individuals in one million inhabitants".

The number of rare diseases is estimated to 5-8000 and 6-8 % of the European population are believed to be affected by a rare disease during their lifetime. Six percent of the Swedish population is about 540 000 people, which means that, taken together, rare diseases are not rare. Due to the rarity and the diversity and large number of the rare diseases it is impossible for the individual physician to have complete knowledge about all the diseases. It means that diagnoses are often delayed in patients with rare diseases, if they are given a diagnosis at all. Moreover, for many diseases treatment is missing or insufficient. At Karolinska Institutet there is a great engagement for rare diseases. Research on rare diseases is ongoing in a number of departments and research groups.

The Department of Women’s and Children’s Health (KBH) has participated in several EU projects on rare diseases, such as Orphanet, EUROPLAN and Rare Best Practices. Orphanet and the Secretariat of ICORD (International Conference on Rare Diseases and Orphan Drugs) that were previously at KBH have now been transferred to the Centre for Rare Diseases (KCRD) at the Karolinska University Hospital. The aim of KCRD is to improve the situation for children, adolescents and adults with rare diseases. This will be achieved through improved coordination, increased cooperation (regional, national and international) as well as through increased information, education and research. Now centres for rare diseases are being established at other university hospitals across Sweden. KCRD’s office is located at Eugeniahemmet in Solna. For more information about KCRD see the center's website.

Examples of KBH's activities within rare diseases

ORPHANET - information about thousands of rare diseases

In 2006, KBH became the Swedish partner in Orphanet, an EU project created to collect and provide information about rare diseases, especially within the EU, but nowadays Orphanet also has partners in North and South America, Australia and Asia. Orphanet is the European reference portal for information on rare diseases and orphan drugs for all interested stakeholders, such as patients, healthcare professionals and patients and has about 40,000 visits each day. Orphanet aims to improve the diagnosis, care and treatment for patients with rare diseases. The database is free and contains easily accessible information about thousands of rare diseases, specialists, research, ongoing clinical trials, orphan drugs and patient support groups. The collection of data about services is done at country level. Since 2013, the Karolinska Centre for Rare Diseases (KCRD) is the Orphanet’s partner in Sweden.

  • Orpha.net (information about RD in seven different languages)
  • Orphanet.se (a website with information in Swedish) 

International Conferences on Rare Diseases and Orphan Drugs (ICORD)

Already in 2005, KBH and KI organised the first international conference on rare diseases and orphan drugs (ICORD). We have remained engaged in these conferences, by hosting the ICORD secretariat. Conferences have since then taken place annually in many different countries in different continents, such as Europe, USA, South America and Asia. The conferences offer all stakeholders in the field of rare diseases (patient support groups, researchers, physicians, industry, public authorities and others) an opportunity to discuss the problems linked to rare diseases, exchange best practices and network. The next conference will be held October 20-22, 2016, in Cape Town, South Africa. ICORD’s secretariat is now located at KCRD.

EU project on treatment guidelines (RARE Best Practices)

RARE Best Practices aims to improve the treatment of patients with rare diseases by collaboration on care guidelines within the EU. KI is a partner in the project through KBH. Areas of focus are:

  • The collection, evaluation and dissemination of existing treatment guidelines
  • Common methodology for developing and updating treatment guidelines
  • Training of relevant stakeholders for the dissemination of expertise and knowledge
  • A forum for exchange of information and experiences and the development of partnerships

RARE Best Practices

EUROPLAN - National plans for Rare diseases in Europe

KBH participated as the Swedish partner in the first part of the EU project EUROPLAN. The aim of the project was to give EU Member States tools for development and implementation of national plans and strategies for rare diseases. On June 8, 2009 the EU Council issued a Recommendation on Rare Diseases, which urged Member States, at the latest by the end of 2013, to prepare and adopt a plan or strategy for rare diseases. The Recommendation aims, among other things, to "ensure that patients with rare diseases have access to high quality care, including diagnostics, treatments, guidance to learn to live with the disease and, if possible, effective orphan drugs". An important part of the recommendation deals with research on rare diseases.

There is still no national plan for rare diseases in Sweden. Rare Diseases Sweden (the national patient support group for RD) organised with the support of KBH one-day conferences in Stockholm in 2010 and 2012 in order to discuss a Swedish plan for rare diseases. The National Board of Health and Welfare initiated an investigation on a national plan for rare diseases and submitted its work to the Ministry of Health in October 2012.

EUROPLAN entered a second phase in 2012, by setting up a European network of authorities for implementation of national plans by 2015. Reports can be downloaded from the EUROPLAN website (under "Document").

Swedish survey on rare diseases in the primary care

A survey study on RD in the primary care was conductedby during 2010. The aim of the project was to investigate the primary care of patients with rare diseases by a questionnaire as well as informing the general practitioners (GPs) of the existing information tools for RD, Orphanet in particular. 250 general practitioners (GPs) responded to the questionnaire.Although the result of the study is discouraging as it shows that much work remains to be done, the study demonstrates the importance and need of improvement of the education of RD for GPs as well as the need to inform the professionals about existing web portals for rare diseases, such as Orphanet, which seem to be practically unknown to Swedish GPs.

Rare Disease Day and the Rare Disease Research Forum at KI

The Rare Disease Day started as a Swedish initiative on leap day in 2008, but it is now marked annually in late February all over the world to put focus on rare diseases. 

February 22, 2012, a seminar entitled “Rare, but not unusual - Equal care, but different treatments” was organised by Karolinska Institute, the Karolinska University Hospital and Rare Diseases Sweden in conjunction to the rare disease day.  

The 21 February 2011 the week before the Rare Disease Day a full-day seminar, entitled Rare Disease Research Forum - Challenges and Solutions, was held at the Karolinska Institutet/Karolinska University Hospital.The purpose of the day was to gather researchers and others interested in one forum to discuss the specific problems this type of research may involve and available solutions. In addition to researchers, representatives from the industry, the Medical Products Agency, the Swedish Research Council and patient organisations participated.

Please find the programme and presentations below:

Program KI Rare Disease Research Forum (Pdf file, 78 Kb)
Presentation Magnus Nordenskjöld (Pdf file, 5 Mb)
Presentation Anna Nordenström (Pdf file, 3 Mb)
Presentation Thomas Sejersen (Pdf file, 7 Mb)
Presentation Barbro Westerholm (Pdf file, 21 Kb)
Presentation Thorarinsson, Lindbäck et al (Pdf file, 218 Kb)
Presentation Nancy Pedersen (Pdf file, 40 Kb)
Presentation Mark Divers (Pdf file, 5 Mb)
Presentation Stephen James (Pdf file, 962 Kb)
Presentation Kerstin Westermark (Pdf file, 675 Kb)
Presentation Elizabeth Hernberg-Ståhl (Pdf file, 115 Kb)


Orphanet - European database for rare diseases

EUCERD - European Expert Group for RD

European umbrella patient organisation EURORDIS

Rarelink - Nordic link library for rare diseases

NIH Office of Rare Diseases Research



Rula Zain, Karolinska Centre for Rare Diseases, Orphanet, Gensvar
Phone: 08-517 70464, Email: ovanliga-diagnoser@kbh.ki.serula.zain@karolinska.se
Address: Centre for Rare Diseases, Karolinska University Hospital, Solna, T4:02

Annika Larsson, Centrum för sällsynta diagnoser Karolinska, ICORD
Phone: 08-517 73724, Email: annika.larsson.1@ki.se
Address: Centre for Rare Diseases, Karolinska University Hospital, Solna, T4:02

Désirée Gavhed, Orphanet, ICORD, Karolinska Centre for Rare Diseases, Department of Women’s and Children’s Health
Phone: 08-517 72870, Email: ovanliga-diagnoser@kbh.ki.sedesiree.gavhed@ki.se, desiree.gavhed@karolinska.se
Address: Childhood Cancer Research Unit, Astrid Lindgrens Children’s Hospital, Q6:05
Centre for Rare Diseases, Karolinska University Hospital, Solna, T4:02