Rare Diseases - But Millions of Patients

Data and Facts
Of the approx. 30,000 known diseases, over 7,000 number among the "rare diseases". According to the definition used in Europe, a disease is "rare" if less than 2,000 people suffer from it. Taken together, these diseases certainly do not represent a rare phenomenon. In Germany alone, several million people are affected. The illnesses are frequently severe and require expensive treatment and care. They are a heavy burden on the patients and their families and often lead to early death during childhood or adolescence. Rare diseases are a heterogenous group of very different disease forms. They are most frequently caused by genetic errors. Rare diseases manifest themselves in nearly all organs and often have a systemic character, i.e. they affect multiple organs at the same time. Due to the low number of patients who suffer from an individual rare disease, a number of fundamental structural problems exist. Significant deficits in diagnostics and therapy sometimes exist in the patient care. Diseases often affect multiple organ systems, making necessary interdisciplinary therapies that only a few specialised centres can provide. An effective causal therapy is not available in many cases and can only be developed once the actual causes of the disease have been explained. This is the case for only a few rare diseases. The main problem remains that the rarer the disease, the more difficult it is to perform systematic research. The interlinking of basic research with clinical research is therefore particularly essential for rare diseases.

What Does the BMBF Do?
The Federal Ministry for Education and Research (BMBF) therefore supports ten disease-specific networks with a total of 31 million €. National capacities in research and care should be integrated in order to establish the prerequisites for a specific diagnosis, systematic research, optimal information transfer and competent patient care. The funding of the individual networks has been  provided for an initial period of three years since 2003. After a successful interim evaluation, nine of the networks for rare diseases are now being funded for another two years until 2008.

Rare Diseases: The Networks

Ichthyosis and Related Keratinization Disorders
Project coordinator: Prof. Dr. Heiko Traupe
Westphalian Wilhelms University of Münster, Clinic and Polyclinic for Skin Diseases
Von-Esmarch-Str. 56, 48149 Münster
Tel.: 02 51 / 83 56 588
Fax: 0251 / 83 56 945
E-mail: traupeh@mednet.uni-muenster.de

Epidermolysis Bullosa
Project coordinator: Prof. Dr. med. Leena Bruckner-Tuderman
Clinic of the Albert Ludwigs University, University Skin Clinic
Hauptstrasse 7, 79104 Freiburg
Tel.: 07 61 / 2 70 67 16
Fax: 07 61 / 2 70 69 36
E-mail: bruckner_tuderman@haut.ukl.uni-freiburg.de

Systemic Scleroderma
Project coordinator: Prof. Dr. Thomas Krieg
University of Cologne, Clinic for Dermatology
Joseph-Stelzmann-Str. 9, 50931 Cologne
Tel.: 02 21 / 47 84 5 00
Fax: 02 21 / 47 84 5 38
E-mail: thomas.krieg@uni-koeln.de

German Skeletal Dysplasia Network (SkelNet)
Project coordinator: Prof. Dr. Bernhard Zabel
University Clinic of Mainz, Children's Clinic and Children's Polyclinic
Langenbeckstr. 1, 55101 Mainz
Tel.: 0 61 31 / 17 68 26
Fax: 0 61 31 / 17 55 28
E-mail: zabel@molgen.medizin.uni-mainz.de

Disorders of Somatosexual Differentiation and Intersexuality
Project coordinator: PD Dr. Ute Thyen
University of Lübeck, University Clinic, Clinic for Pediatrics
Ratzeburger Allee 160, 23538 Lübeck
Tel.: 04 51 / 5 00 25 45
Fax: 04 51 / 5 00 60 64
E-mail: thyen@paedia.ukl.mu-luebeck.de

Congenital Bone Marrow Failure Syndromes
Project coordinator: Prof. Dr. Karl Welte
Medical Academy of Hannover, Dept. of Pediatrics IV
Ped. Hematology/Oncology
Carl-Neuberg-Strasse 1, 30625 Hannover
Tel.: 05 11 / 5 32 67 10
Fax: 05 11 / 5 32 91 20
E-mail: welte.karl@mh-hannover.de

Network for Genetic Metabolic Diseases Detectable by Newborn Screening (METABNET)
Project coordinator: Prof. Dr. Udo Wendel
Heinrich Heine University in Düsseldorf, Children's Clinic
German Society for Pediatrics
Moorenstr. 5, 40225 Düsseldorf
Tel.: 02 11 / 8 11 70 00
Fax: 02 11 / 8 11 62 66
E-mail: wendel@med.uni-duesseldorf.de

Muscular Dystrophyies (MD-Net)
Project coordinators: PD Dr. Hanns Lochmüller
Ludwig Maximilian University, Institute for Biochemistry - Gene Centre -
Feodor-Lynen-Str. 25, 81377 Munich
Tel.: 0 89 / 21 80 68 87
Fax: 0 89 / 21 80 69 99
E-mail: Hanns@Imb.uni-muenchen.de

Prof. Dr. Volker Straub
Institute of Human Genetics
University of Newcastle upon Tyne
International Centre for Life
Central Parkway
Newcastle upon Tyne
UK

German Network of Hereditary Movement disorders (GeNeMove)
Project coordinator: PD Dr. med. J.B. Schulz
Eberhardt Karls University in Tübingen, Neurological Clinic
Hoppe-Seyler-Strasse 3, 72076 Tübingen
Tel.: 0 70 71 / 2 98 20 49
Fax: 0 70 71 / 29 52 60
E-mail: joerg.b.schulz@uni-tuebingen.de       

Leukodystrophy
Project coordinator: Prof. Dr. Volkmar Gieselmann
Rhine Region Friedrich Wilhelm University in Bonn, Institute for Physiological Chemistry
Nussallee 11, 53115 Bonn
Tel.: 02 28 / 73 24 11
Fax: 02 28 / 73 24 16
E-mail: gieselmann@institut.physiochem.uni-bonn.de

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