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When it comes to rare diseases, collaboration is particularly important: In order to determine which treatment option will best help a patient, it is helpful – just as it is with common diseases – to be able to draw on experience. But what if all the experiences occur in different places? How should a doctor in Berlin know that a patient with exactly the same symptoms was successfully treated in Munich or Cologne? And how should those affected find locations that offer effective treatment for their condition? “We need to digitally link up the centers for rare diseases at university hospitals,” says Josef Schepers, deputy head of the BIH Core Unit eHealth and Interoperability. He is currently working on a “use case” for rare diseases as part of the German Federal Ministry of Education and Research’s (BMBF) medical informatics initiative. “We must also ensure that doctors use the same format to document the disease symptoms, diagnosis, and treatment, so that not only their colleagues at other centers but also patients can find this information when they search for it.”

But that is easier said than done. Rare diseases are often so rare that they have no standardized name, and may even lack the ICD code required for billing health insurance companies. Doctors often use different names for diagnoses and symptom complexes, which are also influenced by the main symptom that the patient displays. In addition, data collection often takes place using different systems that are not compatible with each other. “And if we start thinking globally, which would certainly be a good idea for some very rare diseases, then we’re also faced with the language barrier,” says Sebastian Köhler, junior professor of digital phenotyping at the BIH. His research group is working on digitizing the descriptions of symptoms and diseases.

“If a doctor is sitting in front of a patient with an altered face shape, he or she may note down ‘midface hypoplasia,’ while another may write ‘underdevelopment of the midface area,’ and the researcher examining the same symptom in mice may speak of ‘short-snoutedness’,” explains Köhler, illustrating the problem. “And then, the whole thing may be the result of a particular genetic defect that is not associated with any of these three descriptions.” So, if the first doctor is looking for information on midface hypoplasia, he or she will not find any other cases, even though they do exist. Sebastian Köhler wants to solve this problem with the help of standardized digital documentation. In addition, he wants to link information from genome analysis with disease data in order to support research on rare diseases. His team is also working on the possibility for patients to enter their symptoms into a smartphone in a standardized format themselves, and thus find help more quickly.

Josef Schepers is involved in developing concepts that aim to ensure uniform documentation methods are used at as many university hospitals as possible. “Under the medical informatics initiative, almost all German university hospitals are setting up data integration centers tasked with jointly developing data usage concepts in compliance with strict data protection rules. This opportunity should also be used for people with rare diseases,” says Schepers, outlining the task ahead. One research group coordinated by him, which includes participants from a number of locations, is following the German National Plan of Action for People with Rare Diseases and striving to improve the visibility of these “orphan diseases,” accelerate the diagnosis of those affected, develop adequate treatments, and promote research on rare diseases.


Dr. Stefanie Seltmann
Head of Communciations & Marketing
+49 (0) 30 450 543019