Center for Rare Diseases opened

Berlin Charité: Center for Rare Diseases opened

01/03/2011

The Center for Rare Diseases was opened on Monday at the Berlin Charité. As Germany's fifth institution of this kind is now dedicated in Berlin a treatment center explicitly the rare diseases.

Rare diseases (orphan diseases) is a collective term for all diseases that, according to the definition of the EU, suffers less than one in 2,000 people (fewer than 5 in 10,000 people). Due to the small number of patients with the corresponding diseases, Rare Diseases often have significant structural problems in patient care, diagnosis and treatment. To remedy this situation, the Center for Rare Diseases was opened on the official European day of rare diseases (28 February 2011) at the Berlin Charité.

Rare diseases mostly chronic life-threatening diseases
According to the statement „Alliance Chronical Rare Diseases“ and other self-help associations, Rare Diseases are usually life-threatening, chronic diseases that affect multiple organ systems and urgently require interdisciplinary treatment approaches to ensure adequate medical care for patients. Much of the rare diseases (around 80 percent) is caused by genetic causes, according to the experts. In the new center for rare diseases will be „Modern methods of genome analysis (...) help diagnose rare diseases better and faster“ said the director of the Institute of Medical Genetics and Human Genetics at the Charité, Stefan Mundlos. The combination of diagnostic and clinical expertise, as well as a more intensive consultation of the physicians on site, are intended to remedy the structural problems in patient care in the future. For the time being, the new center at the Berlin Charité will focus more on rare diseases in childhood and adolescence, but in the future it will increasingly focus on the care of adult patients.

Special centers offer interdisciplinary care
In addition to the special centers for rare diseases in Freiburg, Tübingen, Frankfurt (Main) and Bonn is now dedicated to the Berlin Charité a corresponding institution interdisciplinary diagnosis, therapy and research on rare diseases. In particular, the children and their parents who are affected will be spared the sometimes years-long odyssey from specialist to specialist, said the director of the Institute of Medical Genetics and Human Genetics. The center should also be the contact point for specialist and pediatricians with information needs and act as an interface between practice and basic research. Despite the opening of five special centers for rare diseases and the planned opening of another facility in Heidelberg, the problem of inadequate research funding has not yet been resolved, emphasized the Charité Dean Annette Grüters-Kieslich. For example, on the occasion of the International Day of Rare Diseases, the Eva Luise and Horst Köhler Foundation, with their research prize of 50,000 euros, once again supported the research on rare diseases, but overall there is still a lot of catching up to do, according to the Charité Dean.

Research deficit in the field of rare diseases
Thus, not only the lack of diagnostic and treatment standards in the rare diseases extreme difficulties, but also the lack of research interest. Because the pharmaceutical companies make little effort to develop new drugs and therapies due to the low sales opportunities in the field of rare diseases. Because in sum, the rare diseases in Germany alone suffer from more than four million people (about 30 million in Europe), but for each individual illness, the patient numbers are extremely low. The range here ranges from one 2,000 inhabitants to one hundred thousand each. Thus, for example, the corresponding preparations hardly make any money in comparison to the so-called common diseases, and the research interest of the pharmaceutical companies is correspondingly low. For this reason, some states and the EU have already enacted regulations and laws aimed at improving research in the area of ​​Rare Diseases. For example, pharmaceutical companies developing new medicines for the treatment of rare diseases are being granted regulatory approval in the EU and the US. (Fp)

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Center for Rare Diseases opened

Picture: Gerd Altmann