Rare Diseases

Call for proposals: Nov. 2000

Funding period: 2003 bis 2008

Total volume: 31 mio €

Funding volume in 2007: ca. 6,5 mio €

Funded Networks: 10 

1. Objectives of funding
Rare diseases are not really rare. According to the definition valid in Europe, a disease is "rare" when less than one out of 2,000 people suffers from a specific clinical syndrome. However, rare diseases often are difficult to cure. There is too little information and hardly any possibility for systematic studies which facilitate a targeted therapy.
According to the definition valid in Europe, a disease is "rare" when less than one out of 2,000 people suffers from a specific clinical syndrome. Taken together, however, these diseases are no rare phenomenon as there are several million patients in Germany alone. Often, they are suffering from severe diseases which require complicated and expensive treatment and care. The diseases result in great burdens for patients and their families, and they often lead to death at a very young age.
Rare diseases are a heterogeneous group of very different clinical syndromes. Their most common cause are defects in the hereditary material, and they can therefore be passed on to descendants. Rare diseases become manifest in almost all organs and often have a systemic expressivity, i.e. they affect several organs at the same time.
The low number of patients affected by a specific clinical syndrome causes a number of generic structural problems. There are sometimes considerable deficits in diagnostics and therapy in patient care. Adequate patient care is not possible if a correct diagnosis is made too late or cannot be made at all. Interdisciplinary approaches to therapy are necessary because the diseases often affect several organ systems, and only few specialized centers can provide this care. An effective causal therapy is often not available and can only be developed when the underlying causes of the disease are understood. However, so far this has been possible for just a few of the rare diseases: the less common the disease, the more difficult is systematic research. Close networking of the different working groups on rare diseases is therefore particularly important.

2. State of the funding measure
The BMBF is therefore funding the establishment of ten disease-specific networks with a total of €31 million. The objective of the start-up funding is to pool national capacities in research and care in order to create the conditions for 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.
However, research projects on rare diseases have also been funded for some years now within the framework of other BMBF funding priorities, such as juvenile and pediatric medicine, human genome research, the competence networks in medicine or gene therapy.

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.: +49 251 8356-588
Fax: +49 251 8356-945
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.: +49 761 270-6716
Fax: +49 761 270-6936
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.: +49 221 4784-500
Fax: +49 221 4784-538
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.: +49 6131 17-6826
Fax: +49 6131 17-5528
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.: +49 451 500-2545
Fax: +49 451 500-6064
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.: +49 511 532-6710
Fax: +49 511 532-9120
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.: +49 211 811-7000
Fax: +49 211 811-6266
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.: +49 89 2180-6887
Fax: +49 89 2180-6999
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.: +49 7071 29-82049
Fax: +49 7071 29-5260
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.: +49 228 7324-11
Fax: +49 228 7324-16
E-mail: gieselmann@institut.physiochem.uni-bonn.de