Institute of Human Genetics
The University Hospital of Cologne is one of the largest in Germany with 6800 employees and 59 Departments and Institutions. The University of Cologne is one of the 11 Excellence Universities in Germany. Both the Medical and Science Faculty have a strong focus in Neuroscience complemented by a Max-Plank Institute of Neurological Research. In addition it is part of the German Centre for Neurodegenerative Diseases Bonn-Cologne-Jülich.
The Institute of Human Genetics is part of the Medical Faculty and has a bridging function to the Natural Science Faculty. It has a strong focus in research of neuromuscular disorders, skeletal, cranio-facial and kidney diseases, aging –related syndromes and rare syndromes in general. A Center for Rare Diseases integrates the various Clinical Departments with Special Clinics and the Institute of Human Genetics offering genetic testing, genetic counselling combined with a strong research focused on the above mentioned disease groups.
Role within Neuromics
Co-Coordinator of Neuromics, Coordinator of SP1 and WP2 and of the disease group spinal muscular atrophy and lower motor neuron diseases
Related projects
Workpackage involvement
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Workpackage 6 - Diagnostic read outs for predicting disease modification
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Workpackage 10 - Elucidation of pathogenesis and monitoring of treatment
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Workpackage 5 - Development and implementation of disease group overlapping NGS-based diagnostic panels
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Workpackage 7 - Omics-based biomarkers for progression and therapy monitoring related to disease pathways
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Workpackage 1 - Deep phenotype analysis in pre-symptomatic and symptomatic NDD/NMD patients
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Workpackage 2 - Identification of novel disease genes in NDD/NMD patients
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Workpackage 14 - Project Management
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Workpackage 8 - Bioinformatic tools for diagnostic prediction