LEUKO-EXPERT

Rare diseases (RD) occur with a prevalence of less than 1:2,000 persons (EU definition). More than 8,000 RD are known, often genetically determined. Due to their rare occurrence, the RD are often not diagnosed at all, incorrectly or with a long delay diagnosed. Medical experts are mainly involved in selected Centers for Rare Diseases available.The goal of the LEUKO-Expert project is to establish an expert system for the diagnostic support of RD Leukodystrophy and to evaluate it within the scope of a proof-of-concept. The expert system will use a model created with modern data science methods, such as from the machine learning domain. The model will be generated by using clinical, image data (magnetic resonance imaging [MRI]) and genetic data. Such data are available at Centre for Rare Diseases in Aachen, Leipzig, and Tübingen.LEUKO-Expert is a research project funded by the German Ministry of Health.