Rare Diseases Center

Visiting Address
Stenbäckinkatu 11

Postal address
P.O. Box 281, 00029 HUS
Contact Information
Switchboard: + 358 (0)9 4711
Fax: +358 (0)9 471 74703

Head of Department Mikko Seppänen, 050 427 9606

The Rare Diseases Center of HUH was founded to promote the diagnosis, research and treatment of rare diseases. Its most important practices are networking, virtual services, and cooperation with various patient organizations and health care industry representatives.

The actual treatment of patients with a rare disease is organized by the different hospitals, specialities, and units of the Hospital District of Helsinki and Uusimaa (HUS). The purpose of the Rare Diseases Center is to organize the overall treatment of rare diseases in HUS so that HUS can offer as extensive and uniform services as possible to the patients with a rare diseases.

The goal of the Rare Diseases Center is to improve the efficiency of the treatment of rare diseases across the different departments of HUS, and to balance out the quality of care and access to it. This can be achieved by helping the large number of HUS's rare disease experts to network, and by introducing patient experiences as a tool for developing treatment.

Other goals of the Rare Diseases Center include streamlining the care pathways starting from basic health care, and promoting the cooperation with different patient organizations, other university hospitals, and specialist networks at the EU level. Important partner institutions of the Center include organizations like the Rare Diseases Working Group of Finland's Ministry of Social Affairs and Health, the Social Insurance Institution of Finland, and municipal social care departments. The Rare Diseases Center strives to promote the research and education in the care and diagnosis of rare diseases both in HUS and elsewhere, and to help raise awareness of them.

One key objective of the Center is to improve the diagnostics of rare and multiform diseases by promoting the introduction of next-generation DNA sequencing technologies. These technologies are successfully used today to diagnose numerous syndromes that in the past would have remained a mystery. The Center also strives to develop register-based research and biobank research to improve the care and understanding of rare diseases.

In the administrative structure of HUS, The Rare Diseases Center falls under the Helsinki University Hospital (HUH) Children and Adolescents Department.