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
Regensburger, AP, Wagner, AL, Danko, V, Jüngert, J, Federle, A, Klett, D et al.. Multispectral optoacoustic tomography for non-invasive disease phenotyping in pediatric spinal muscular atrophy patients. Photoacoustics. 2022.25 100315 PMID:34849338
Kurul, SH, Oktay, Y, Töpf, A, Szabó, NZ, Güngör, S, Yaramis, A et al.. High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases. Brain. 2021. PMID:34791078
Jennings, MJ, Hathazi, D, Nguyen, CDL, Munro, B, Münchberg, U, Ahrends, R et al.. Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3. Front Cell Dev Biol. 2021.9 710247 PMID:34692675
Saffari, A, Cannet, C, Blaschek, A, Hahn, A, Hoffmann, GF, Johannsen, J et al.. 1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy. Orphanet J Rare Dis. 2021.16 (1)441 PMID:34670613
Gangfuß, A, Schara-Schmidt, U, Roos, A. [Genomics and proteomics in the research of neuromuscular diseases]. Nervenarzt. 2021. PMID:34622318
Gangfuß, A, Czech, A, Hentschel, A, Münchberg, U, Horvath, R, Töpf, A et al.. Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement. J Pathol. 2021. PMID:34599609
Della Marina, A, Pawlitzki, M, Ruck, T, van Baalen, A, Vogt, N, Schweiger, B et al.. Clinical Course, Myopathology and Challenge of Therapeutic Intervention in Pediatric Patients with Autoimmune-Mediated Necrotizing Myopathy. Children (Basel). 2021.8 (9) PMID:34572153
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
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