Rare Diseases in the Capital Region: an Overview of Activities and Challenges

The development of drugs for the treatment of rare diseases is difficult, as is the development of safe methods of diagnosis. Although the number of patients suffering from rare diseases is relatively large, the estimated 8,000 different rare diseases often occur in only a few cases. This makes research difficult. Nevertheless, there are many players in the capital region who are dealing with this issue and research solutions for it.


Rare diseases are not as rare as their name suggests. According to the World Health Organization (WHO), between 27 and 36 million people in the European Union (EU) alone suffer from a so-called rare disease. In Germany there are about four million cases. A disease is considered rare if less than five people out of 10,000 are affected by it. The clinical pictures are usually complex and in about 70 percent of cases the cause is based on genetics.


Research in the capital region


Research on the diagnosis and treatment of rare diseases is therefore being conducted worldwide, including in the capital region. In Berlin, for example, the Institute for Medical Genetics and Human Genetics at Charité - Universitätsmedizin Berlin is working with the Max Planck Institute (MPI) for Molecular Genetics on diagnostic methods for rare hereditary diseases. The Institute of Medical Genetics and Human Genetics is investigating the performance of the "Face2Gene" analysis platform, which uses patient photos to draw conclusions about genetic defects, as part of the multi-center study "Prioritization of Exome Data by Image Analysis" (PEDIA).


After all, one of the biggest problems with rare diseases is the actual diagnosis of the disease. Oftentimes, affected people have to go through many doctors visits and institutions over many years to find out exactly what they are suffering from. In some cases it won´t be clarified at all or only after decades.


Digital diagnostics and the use of data


The Berlin start-up Ada Health is also researching digital possibilities that improve the diagnosis of rare diseases. The Ada app helps to analyse symptoms and identify possible normal illnesses. In the field of rare diseases, Ada has already developed a prototype of a system that will help in the diagnosis of rare diseases. 


The CORD-MI (Collaboration on Rare Diseases) project, led by the Berlin Institute of Health (BIH), also relies on digital possibilities. The project involves 20 university hospitals and other partners working to improve patient care and research on rare diseases. CORD-MI aims to make better use of existing data on rare diseases. To this end, the project aims to digitally network the Centres for Rare Diseases and establish differentiated documentation of the diseases in normal clinical care with identification numbers, so that the data of all Centres for rare diseases can be used across locations and in compliance with data protection regulations. This should make diagnosis and treatment faster and better.



Treatment of rare diseases

The Berlin Center for Rare Diseases (BCSE) of the Charité - Universitätsmedizin Berlin is very active in the area of ​​treatment. It was founded in 2011 on the initiative of the MPI and the clinics for pediatric and adolescent medicine and also relies on strong networking. The BCSE is helping patients to find the right contact person and coordinates an interdisciplinary collaboration between experts. BCSE generally works in two teams, one for children and one for adults.


The Alliance of Chronic Rare Diseases (ACHSE), based in Berlin, offers basic support for those who are affected. The association focuses primarily on networking between physicians, patients, science and politics. It also aims to encourage the promotion of research and the transfer of knowledge from support groups and patients to the health care system. The most important concern is to give those affected a voice. To this end, ACHSE also uses the „Rare Disease Day“, which falls on the last day in February every year, to draw attention to the issue through public campaigns.