Read illness on the lips? Young woman pursues unusual approach

Adele rudder would like to shorten the period that many people with rare diseases need to receive a diagnosis. On average, it takes five years for those affected to find out what they really lack. Rowing, which works at the University Hospital Bonn in the field of genomic statistics and bioinformatics, believes that innovative approaches, such as the analysis of medical image data through artificial intelligence (AI), could be decisive.

Diagnostic Odyssey and AI tools

In your research group, the rudder uses the "Gestalt Matcher" AI tool, which specializes in recognizing characteristic features in faces. These characteristics can be helpful in diagnosing rare genetic diseases. Rowing indicates that over 30 million people are affected in Europe, which underlines the urgency of this research. Genetic diseases are often associated with specific facial features that can make diagnosis easier.

Rudder explains that not all diseases are immediately recognizable. In the case of diseases such as alagille syndrome, the symptoms may not be so obvious and require more extensive diagnostic steps. This is where the AI begins by learning from a large database of pictures of secure cases and helps doctors to better classify suspected cases.

International Cooperation and Database

The database now comprises around 12,900 case reports that have been collected from different regions. This diversity is crucial to avoid distortions in the results of the AI analysis. Particular attention is paid to the recording of images from different age groups, since many symptoms occur in childhood.

The ethical aspect of the database was thoroughly checked before the project start. The rudder strives to integrate AI technology into medical practice and to inform doctors about their use and advantages. Your efforts aim to raise awareness of rare diseases and to shorten the long way to diagnose by using the latest technologies.

The way to research

Adele Ruder comes from Gunningen and has developed into an expert in her area through various educational paths, including courses at the University of Konstanz and a doctorate at the University of Maastricht. They drive their commitment to medical research and the desire to pass on knowledge. Rudder sees its work not only as a professional career, but also as a personal mission to put the topic of rare diseases in the foreground and to improve the care of patients.

With the upcoming project, rudder aims to establish "design maters" in general medical care. An upcoming study is intended to investigate how AI can be used in regular examinations in order to point out abnormalities at an early stage and thus optimize the diagnosis.