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NMD-GPS (Genomic and Proteomic Signatures as a GPS in Neuromuscular Diseases) is a multidisciplinary German/European project funded with 2,9 million Euros for a total period of three years (by the European Regional Development Fund; ERDF) and applying proteogenomics to improve NMD diagnostics by replacing immunology-based analyses with proteomics. In this project, NMD-causative-proteins are quantified by targeted proteomics, while untargeted proteomics on the same protein extracts then aims to map pathophysiological cascades across diseases, including both genetic and acquired NMDs. Intersection of proteogenomics and clinical data via machine learning will enable identification of molecular causes in an antibody-independent fashion as well as pinpointing significant protein co-regulations. 

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Algorithmus vom INFORM DataLab verbessert Diagnose und Behandlung neuromuskulärer Erkrankungen

​​​​​​Ein neu entwickeltes Verfahren auf Basis von Künstlicher Intelligenz soll sowohl die Diagnose als auch die Behandlung von neuromuskulären Erkrankungen optimieren. Im Rahmen eines Forschungsprojekts mit der Neuropädiatrie des Universitätsklinikum Essen, dem Leibniz-Institut für Analytische Wissenschaften (ISAS) und dem MVZ Institut für Klinische Genetik in Bonn möchte das INFORM DataLab durch Analysen von Patientendaten mithilfe eines speziellen Algorithmus die Diagnose und Behandlung von neuromuskulären Erkrankungen verbessern. Im Gespräch mit Dr. Andreas Roos aus der Abteilung für Neuropädiatrie im Universitätsklinikum Essen möchten wir das Projekt und seine Ziele genauer beleuchten.

A newly developed method based on artificial intelligence is intended to optimize both the diagnosis and treatment of neuromuscular diseases. The Aachen-based optimization specialist, INFORM GmbH, is contributing the expertise of its DataLab to health research for the first time in a research project with the Neuropediatric Department of the University Hospital Essen, the Leibniz Institute for Analytical Sciences (ISAS) and the MVZ Institute for Clinical Genetics in Bonn. The aim is to improve the diagnosis and treatment of neuromuscular diseases by analyzing patient data using a special algorithm.

Generally, by addressing the need to

(i) replace the antibody-based immunological diagnostic analysis of muscle biopsy specimen derived from patients suffering from neuromuscular diseases (NMDs) as well as to

(ii) identify pathomechanisms common in different NMDs toward the definition of unified treatment concepts, NMD-GPS combines phenomics, genomics, proteomics and machine learning in an interdisciplinary manner.

Department of Neuropediatrics
(Prof. Dr. Ulrike Schara, Lead & Dr. Andreas Roos, Project Manager)

University Hospital Essen
Duisburg-Essen University
Hufelandstrasse 55
45147 Essen


For further question, please contact: 

Dr. Andreas Roos (Project Manager)