What is LEUKO-Expert?

Diagnosis Support for the Rare Disease Family Leukodystrophy

Rare diseases (SE) occur with a prevalence of less than 1:2,000 persons (EU definition). More than 8,000 SE are known, often genetically determined. Due to their rare occurrence, the SE are often not diagnosed at all, incorrectly or with a long delay diagnosed. Medical experts are mainly involved in selected Centers for Rare Diseases (ZSE) available. The experts are available for via Internet databases, of which Orphanet and SE-Atlas are probably the best known. However, the difficulty often consists of the suspicion the presence of a specific SE, so that these patients with up to come to this group of experts with a diagnosis that has been unclear for a long time and receive the appropriate treatment can.

The goal of the planned project is to establish an expert system for the diagnostic support of SE 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. The data will be provided by data integration centers (DIZ) at corresponding University Hospitals, which are currently under construction, so that the structures and results of Medical Informatics Initiative (MII) will be used.

LEUKO-Expert is a research project funded by the German Ministry of Health.