Today is Rare Diseases Day, which takes place every four years on 29 February. Currently 400 million people worldwide, of whom 30 million are in Europe[i] and 400,000 in Austria, are affected by a rare disease. There are between 5,000 and 8,000 different rare diseases[ii], and the vast majority are caused by a single genetic defect, which can already be detected in early childhood. They are not as uncommon as we may think but they are so little widespread that those who are affected by them are often not properly diagnosed or do not receive the most appropriate treatment for their condition.

Developing more effective and appropriate treatments requires a lot of research. Kaan Boztug, CeMM Adjunct PI, Scientific Director of St. Anna Children's Cancer Research (CCRI) and Director of the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD) in Vienna is a leading expert in primary immunodeficiency and hematological malignancies and dedicated to this goal. His research group successfully works on understanding some of the molecular processes that control immune homeostasis and autoimmunity using model diseases and state-of-the art genomic approaches with the aim to enable the use of tailored treatment strategies. In his interview with Wolfgang Däuble for the Austrian newspaper “Die Presse”, Kaan Boztug gives more details about serious chronic diseases, explains why it is so important to invest in rare disease research and how this led to the founding of LBI-RUD.
 
The original interview in German is available online via this link.

About LBI-RUD
 
The Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD) was launched by the Ludwig Boltzmann Gesellschaft in April 2016 together with its partner institutions CeMM, the Research Center for Molecular Medicine of the Austrian Academy of Sciences, the Medical University of Vienna, and the St. Anna Children’s Cancer Research Institute (CCRI). Its research remit is the thorough analysis of rare diseases of the hematopoietic system, the immune system and the nervous system – as such not only dedicated to provide research for the development of personalized therapeutics for affected patients, but with similar efforts dedicated to unravel novel insights into human biology. Benefitting from access to the infrastructure and know-how of its partner institutions, LBI-RUD has established a coordinated research programme, integrating and considering scientific, sociologic, ethical and economical aspects of rare diseases.

http://rud.lbg.ac.at/

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[i] EURORDIS. What is a rare disease? http://www.eurordis.org/about-rare-diseases
[ii] Orphanet website: About rare disease http://www.orpha.net/consor/cgi-bin/Education_AboutRareDiseases.php?lng=EN