One of the greatest challenges for people with a rare disease is to obtain the correct diagnosis and subsequently find an adequate therapy. Although around 4 million people in Germany have a rare disease and there are around 6,000 different conditions of this type, the experts for the respective diseases are spread across the entire country, so it often takes years to make a diagnosis.
Since 2011, the Berlin Center for Rare Diseases (BCSE) at the Charité - Universitätsmedizin Berlin has been providing support here. The center was founded as a central point of contact for patients with rare diseases. For this purpose, the expertise of the numerous specialist departments of the Charité is combined in the BCSE. Patients seeking advice are to be connected as quickly as possible with specialist contact partners. To this end, interdisciplinary case conferences in particular are used to try to establish a diagnosis for those affected with unexplained complaints.
BCSE teams for children and adults
BCSE works in two teams: BCSE children and BCSE adults. The center does not offer open consultations, but acts on referral from physicians. If the diagnosis is not yet known, the treating physicians should first submit a comprehensive description of the symptoms and all previous findings. Based on all relevant information and findings, the case is then discussed in an interdisciplinary case conference and the various diagnostic possibilities are worked out. The resulting recommendations for further diagnosis or even therapy are then communicated by BCSE to the affected person. For those who already have a diagnosis, BCSE provides support in finding specialists and people with a similar condition.
A presentation of cases can be made for adult patients via bcse-erwachsene(at)charite.de and for children and adolescents via bcse-kinder(at)charite.de.
Network with B centers
BCSE is by no means acting alone at Charité. As an A-center, BCSE coordinates a large network of specialty-specific B-centers that also belong to Charité. BCSE convenes the interdisciplinary case conferences with the appropriate B-centers and those advise on the individual cases. Each B-Center is assigned to an institute or clinic. The B-centers are thus experienced in the diagnosis and therapy of specific rare diseases and care for patients with the corresponding indicator diseases - i.e., diseases that have a high probability of being associated with a rare disease. These B-centers are usually also members of the European Rare Disease Network (ERN).
In the past two years, the evaluation of the Translate-NAMSE project took place at BCSE. The acronym NAMSE stands for "National Action Alliance for People with Rare Diseases"; BCSE had coordinated the project for years for a total of 10 rare disease centers nationwide. The results of the project - including a networked structure of A-centers in Germany and a selective contract with partner health insurers for exome sequencing - were presented in comprehensive reports and can now be viewed on the website of the GBA Innovation Committee.