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
Jackson, J, Wischhof, L, Scifo, E, Pellizzer, A, Wang, Y, Piazzesi, A et al.. SGPL1 stimulates VPS39 recruitment to the mitochondria in MICU1 deficient cells. Mol Metab. 2022.61 101503 PMID:35452878
Koutsoulidou, A, Koutalianos, D, Georgiou, K, Kakouri, AC, Oulas, A, Tomazou, M et al.. Serum miRNAs as biomarkers for the rare types of muscular dystrophy. Neuromuscul Disord. 2022.32 (4)332-346 PMID:35393236
Kakouri, AC, Koutalianos, D, Koutsoulidou, A, Oulas, A, Tomazou, M, Nikolenko, N et al.. Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights. RNA Biol. 2022.19 (1)507-518 PMID:35388741
Schorling, DC, Kölbel, H, Hentschel, A, Pechmann, A, Meyer, N, Wirth, B et al.. Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy. Eur J Neurol. 2022. PMID:35318785
Jennings, MJ, Kagiava, A, Vendredy, L, Spaulding, EL, Stavrou, M, Hathazi, D et al.. NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice. Brain. 2022. PMID:35148379
Gangfuß, A, Hentschel, A, Rademacher, N, Sickmann, A, Stüve, B, Horvath, R et al.. Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease. Hum Mutat. 2022.43 (4)477-486 PMID:35112411
Arlt, A, Kohlschmidt, N, Hentschel, A, Bartels, E, Groß, C, Töpf, A et al.. Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects. Orphanet J Rare Dis. 2022.17 (1)29 PMID:35101074
Della Marina, A, Arlt, A, Schara-Schmidt, U, Depienne, C, Gangfuß, A, Kölbel, H et al.. Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3. Cells. 2021.10 (12) PMID:34943989
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
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