Andreas Roos (PhD)
Translational Research in Neuromuscular Disorders

Field of Activity

In the research of hereditary and acquired neurodegenerative and neuromuscular disorders, analysis of tissues and cell lines represents an important step. Thereby, the overall knowledge of morphological and biochemical characteristics of diseased tissues and cells is decisive in order to define consistent pathomechanisms and to use this knowledge towards the testing of therapeutic intervention concepts. In the same context, these characteristics represent important parameters to monitor the therapeutic success of tested drugs. Apart from the investigation of diseased tissues, the analysis of clinically non-vulnerable tissues also represents a valuable approach allowing the identification of modifying factors. Of course, this knowledge can also be used for the development of new intervention concepts. For this purpose, not only patient-derived material, but also suitable animal models and cell lines are very valuable. Also in collaboration with different national and international scientists and clinicians, the overall aim to identify the molecular mechanisms leading to the phenotypical manifestation is systematically addressed by my research activities at the Leibniz-Institut für Analytische Wissenschaften -ISAS- (“Tissue Omics” project group; Dortmund, Germany) and the John Walton Muscular Dystrophy Research Centre (JWMDRC; Newcastle upon Tyne, UK):

The Tissue Omics project group launched the Leibniz-Institut für Analytischen Wissenschaften ISAS e.V. (headed by Professor Esser, Professor Sickmann and Jürgen Bethke) at the beginning of 2015. The group is leaded by Professor Sickmann and I, Doctor Andreas Roos, and focusses on the development, optimization and application of different proteomic approaches towards qualitative and quantitative analysis of appropriate samples and thus the improved understanding of the genesis of neurodegenerative and neuromuscular disorders.

The JWMDRC (headed by Professor Kate Bushby, Professor Rita Horvath, Professor Hanns Lochmüller and Professor Volker Straub), where I am working as the Scientific Officer of the centre, is part of the Institute of Genetic Medicine (Newcastle University) and focusses on the diagnosis and treatment of patients suffering from neuromuscular disorders, but also has a strong interest and scientific record in the identification of disease-causative genes and the discovery of pathophysiological mechanisms. My scientific activity at the JWMDRC includes the testing of pathogenicity of genetic variants by making use of suitable in vivo and in vitro systems as well as the continuative (cellular) investigation of promising disease causative mechanisms and modifiers discovered with the help of the different proteomic approaches applied at ISAS.

The combined scientific activities within these two institutes thus aim to:

  • generate, define and characterize suitable model systems allowing a robust investigation of neurodegenerative and neuromuscular disorders
  • identify common and specific disease mechanisms by studying protein expression, cellular mechanisms and protein-protein interactions
  • identify modifying factors of neurodegenerative and neuromuscular disorders

The main research interest is the study of neurodegenerative and neuromuscular disorders related to dysfunction of protein quality control within the Endoplasmic Reticulum leading to cellular stress and the activation of associated defence mechanisms such as the Unfolded Protein Response and proteolysis.