SEPE - Rare Disease and Patient Empowerment

Motivation

Individuals presenting with symptoms of illness expect timely and accurate diagnosis. However, the diagnostic process for somatic, psychosomatic, and especially rare diseases often takes several years. It is therefore essential to optimize the process of anamnesis and diagnosis by actively involving patients.

Objectives and Approach

The goal of SEPE research team is to optimize the diagnostic process in order to identify patients with rare diseases. To this end, the researchers are designing and implementing an interactive platform that enables healthcare professionals and patients to collaboratively compile medical data. The system facilitates the structured processing of existing medical records from practice management systems and electronic health records. Additionally, it employs artificial intelligence to collect supplementary parameters, thereby enriching the anonymized patient data. The platform selects relevant features and trains AI models accordingly. This approach aims to support physicians in the diagnostic decision-making process.

Innovations and Outlook

The developed system enables faster and more efficient diagnostic procedures. It provides support not only to centers specializing in rare diseases but also to general practitioners and medical specialists.

Available thesis topics

If you would like to conduct your internship or conduct your student thesis as part of this project, take a look at our available thesis topics here. The related topics are marked with the abbreviation SE.

Project funding / Cooperations

This joint project is funded by the Federal Ministry of Education and Research (BMBF) for the period 2024 - 2027.</p>

The following partners are participating in the project:

  • UKSH, Zentrum für seltene Erkrankungen, Lübeck
  • Genie Enterprise Deutschland GmbH, Ludwigshafen
  • Doc Cirrus GmbH, Berlin
  • YOUSE GmbH, Berlin

Publications

2025
[1] W. Philipp, A. Gölge, A. Hein, S. Fudickar. Usability Evaluation of a Chatbot for Fitness and Health Recommendations Among Seniors in Assisted Healthcare. SciTePress; 2025:483-490. [bibtex] [doi]
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