topic Research

Rare Diseases

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.

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 beeing 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 medicine, human genome research, the competence networks in medicine or gene therapy.

Rare diseases - the networks

• Ichthyosis and related disorders of cornification,
• Epidermolysis bullosa,
• Systemic scleroderma,
• Skeletal dysplasia network (SKELNET),
• Disorders of somato-sexual differentiation and intersexuality,
• Hereditary disorders of haematopoiesis,
• Hereditary metabolic disorders/diseases, which are detected in the screening of newborns (METABNET),
• Muscular dystrophy (MD-Net),
• German Network for Hereditary Movement Disorders (GeNeMove), and
• Leukodystrophy.