Research for rare diseases – Together toward Diagnosis and Treatment
Despite huge efforts and initiatives from both researchers and medical specialists, the underlying causes for many rare diseases are not yet understood. For most of the rare diseases curative therapies are not available. In order to strengthen clinical research on rare diseases, the German Ministry for Education and Research (BMBF) supports ten networks for rare diseases (funding period 2015/16-2018). Within these networks, about 50 research projects work on specific disease groups in order to develop innovative approaches for diagnosis and therapy. Close interaction of preclinical research and clinical practice can contribute decisively to the improvement of the situation of patients with a rare disease.
Rare diseases are by no means a rare phenomenon. Although every individual disease affects less than five in 10,000 people, overall a large number of people suffer from a rare disease. In Germany, four million people are affected by one of the over 7,000 known rare diseases.
Since 2003, the German Federal Ministry of Education and Research has been sponsoring research networks in their endeavours to try to understand the causes of rare diseases and to develop urgently needed new therapeutic approaches. The confederation of specialists on specific disease groups can counteract the problem of small patient numbers and enables the concentrated collection and evaluation of information.
Advances in basic research should speed up the diagnosis and thus rapidly supply the affected people with adequate medical treatment.