AI in the Diagnosis of Rare Diseases

For anyone who is sick and looking for an answer to the question of what their symptoms mean, a diagnosis can be helpful. That sounds easier than it is, because it’s not always possible to clearly link symptoms to a specific disease. Individual factors or pre-existing conditions can influence the course of a disease to such an extent that diagnosis becomes difficult. And sometimes the condition is a rare disease, one of the characteristics of which is that there is comparatively little empirical data available about it. Digital technology plays a key role in identifying rare diseases as such in the first place. What does this mean for supporting those affected? And what role does “artificial intelligence” in particular play in this field?

Dr. Michael von Wagner is deeply involved in the digital transformation of healthcare: He is the Medical Director of the Medical Information Systems and Digitalization Unit, Chief Medical Informatics Officer (CMIO), and Executive Director of the University Center for Digital Healthcare. In this Digitalgespräch, the expert describes how digitalization has sharpened our focus on the individual nature of diseases and how clinical pictures are becoming more differentiated. He explains what characterizes rare diseases, how those affected are using digital tools, and what efforts define digital strategies in the medical care of diseases that are difficult to diagnose. Together with hosts Marlene Görger and Petra Gehring, von Wagner discusses the implications this has for the distinction between “sick” and “healthy,” and whether the long-standing controversies surrounding the contentious term “data protection” can now be considered resolved.

Episode 75: Digitalgespräch with Michael von Wagner from the Frankfurt am Main University Hospital, 17th of February 2026

Transkript zur Folge

Further Information:

To the University Center for Digital Healthcare of the Frankfurt am Main University Hospital: https://www.unimedizin-ffm.de/ueber-uns/university-center-for-digital-healthcare-ucdhc

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