The Swedish National Board of Health and Welfare database of rare diseases now contains more than 300 entries. The Swedish Information Centre for Rare Diseases at the Institute of Clinical Sciences produces the written material for the database. At the outset, in1996, the database included information on a total of 16 diseases. Since then, the number of annual visitors has risen steadily to over one million.
People with rare diseases, caregivers, social welfare officers and civil servants can all use the information in the database. The descriptions of the diseases are widely hailed for their comprehensiveness and compactness, as well as a nomenclature that is appropriate for experts and non-experts alike.
The utility of the database for such a broad target group reflects our vision of ensuring equal health, care and social services,” says Jonas Bergström, the contact person at the NBHW. “Both the professionals and the representatives of patient advocacy groups whom I meet as part of my outreach activities frequently go out of their way to praise the database for its thoroughness.”
Complex effort
Sahlgrenska Academy and the NBHW have been collaborating on the project ever since 2002.
“Writing the material requires a complex and multifaceted effort,” says information center Director Lena Kolvik. “We work closely with the specialists who compile the basic facts, appoint a team of experts to perform a detailed review and bring various advocacy groups into the process.”
In addition to producing the written material, the rare disease information center is in charge of replying to approximately 500 emails and phone calls every year.
Latest research findings
The information center not only constantly adds new diseases to the database, but regularly updates the existing material to include fresh data and the latest research findings.
Anders Fasth, Professor of Pediatric Immunology at Sahlgrenska Academy and chairman of the team of experts, says that research in the field is much more extensive than commonly believed.
“Rare disease research has unearthed a wealth of information about how the body and genetic code work. Findings in this area have led to the development of pharmaceutical drugs for both rare and common diseases.”
Treatment methods of tomorrow
The Centers for Rare Diseases that hospitals throughout Sweden are in the process of establishing will focus on new and better care and treatment methods. The centers will assume responsibility for coordinating both medical and social service interventions. The Västra Götaland Region has set up a center as a collaborative effort between the Queen Silvia Children’s Hospital and the Ågrenska programs.
“Our emphasis is on more effective treatment for people with rare diseases,” Professor Fasth says. “For instance, full mastery of gene therapy technology would offer an invaluable tool. Other new technologies might enable repair of damaged genes or provide mechanisms that can trigger production of the proteins that they code for.”
Here you will find The Swedish National Board of Health and Welfare database: http://www.socialstyrelsen.se/rarediseases
Here you can read more about the Swedish Information Centre for Rare Diseases: http://sahlgrenska.gu.se/ovanligadiagnoser
TEXT AND PHOTO: STINA BJÖRKERUD