Andreas Roos
Adjunct Professor, University of Ottawa
Scientific Officer, Department of Neuropediatrics, University Hospital Essen
Email AndreasAndreas completed his PhD in 2009 with Professor Jan Senderek in the Neurogenetics group of the Institute of Human Genetics of RWTH-Aachen University in Germany, where his thesis focused on the elucidation of molecular and biochemical mechanisms in autosomal recessive Charcot-Marie-Tooth neuropathies. Following a postdoc in the Institute of Molecular Biology and Medical Biochemistry at the University of Saarland, he became a junior group leader at the Institute of Neuropathology at RWTH-Aachen University. Subsequently, he took on the role of group lead of the Tissue Omics group at the Leibniz Institute of Analytical Science (ISAS) in Dortmund, focusing on applied proteomics toward a better understanding of the molecular genesis of neuromuscular diseases. In 2015 he moved to Newcastle upon Tyne (UK) as Scientific Officer in the John Walton Muscular Dystrophy Research Centre under Professor Hanns Lochmüller. After moving to Essen in Germany in 2018 to become Scientific Officer in the University Hospital Essen’s Department of Neuropediatrics, together with Prof. Ulrike Schara he was awarded a 2.9M Euro grant from the European Regional Development Fund for NMD-GPS, a major interdisciplinary multi-omics project aiming to improve the diagnostic management of patients with neuromuscular diseases as well as to group these diseases according to their underlying pathomechanisms.
In 2019 Andreas was awarded an adjunct professorship at the University of Ottawa, where he will be an external/visiting member of the Lochmüller Lab team, teaching applied proteomics in the context of neuromuscular diseases, co-supervising students and continuing his many close scientific collaborations with the group.
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Recent publications
Gangfuß, A, Lochmüller, H, Töpf, A, O'Heir, E, Horvath, R, Kölbel, H et al.. A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents. Am J Med Genet A. 2021. PMID:34519148
Braun, F, Hentschel, A, Sickmann, A, Marteau, T, Hertel, S, Förster, F et al.. Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS. Int J Mol Sci. 2021.22 (15) PMID:34360601
Polavarapu, K, Mathur, A, Joshi, A, Nashi, S, Preethish-Kumar, V, Bardhan, M et al.. A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients. Neurogenetics. 2021.22 (4)271-285 PMID:34333724
Braun, F, Gangfuß, A, Stöbe, P, Haack, TB, Schweiger, B, Roos, A et al.. Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process. Mol Genet Genomic Med. 2021. e1767 PMID:34288564
Töpf, A, Pyle, A, Griffin, H, Matalonga, L, Schon, K, Solve-RD SNV-indel working group et al.. Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1). Eur J Hum Genet. 2021.29 (9)1348-1353 PMID:34075209
Mohassel, P, Donkervoort, S, Lone, MA, Nalls, M, Gable, K, Gupta, SD et al.. Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis. Nat Med. 2021.27 (7)1197-1204 PMID:34059824
Kölbel, H, Preuße, C, Brand, L, von Moers, A, Della Marina, A, Schuelke, M et al.. Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages. Neuropathol Appl Neurobiol. 2021.47 (6)856-866 PMID:33973272
Sicking, M, Lang, S, Bochen, F, Roos, A, Drenth, JPH, Zakaria, M et al.. Complexity and Specificity of Sec61-Channelopathies: Human Diseases Affecting Gating of the Sec61 Complex. Cells. 2021.10 (5) PMID:33925740
Hathazi, D, Cox, D, D'Amico, A, Tasca, G, Charlton, R, Carlier, RY et al.. INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. Brain. 2021.144 (8)2427-2442 PMID:33792664
Straka, T, Schröder, C, Roos, A, Kollipara, L, Sickmann, A, Williams, MPI et al.. Regulatory Function of Sympathetic Innervation on the Endo/Lysosomal Trafficking of Acetylcholine Receptor. Front Physiol. 2021.12 626707 PMID:33776791
Grande, V, Hathazi, D, O'Connor, E, Marteau, T, Schara-Schmidt, U, Hentschel, A et al.. Dysregulation of GSK3β-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients. J Neuromuscul Dis. 2021.8 (4)603-619 PMID:33682722
Hentschel, A, Czech, A, Münchberg, U, Freier, E, Schara-Schmidt, U, Sickmann, A et al.. Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases. Orphanet J Rare Dis. 2021.16 (1)73 PMID:33563298
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