Andreas Roos

Adjunct Professor, University of Ottawa

Scientific Officer, Department of Neuropediatrics, University Hospital Essen

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Andreas 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.

In 2023, Andreas received the World Muscle Society’s President’s Prize for Emerging Myologist of the Year.

Dr. Andreas Roos

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Recent publications

Forsting, J, Rohm, M, Froeling, M, Güttsches, AK, Südkamp, N, Roos, A et al.. Author Correction: Quantitative muscle MRI captures early muscle degeneration in calpainopathy. Sci Rep. 2024.14 (1)10381 PMID:38710928

Athamneh, M, Daya, N, Hentschel, A, Gangfuss, A, Ruck, T, Marina, AD et al.. Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers. J Cell Mol Med. 2024.28 (8)e18122 PMID:38652110

Distelmaier, F, Sezer, A, Helm, C, Waldmüller, S, Seibt, A, Gangfuß, A et al.. Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia. Brain. 2024. PMID:38637313

Della Marina, A, Hentschel, A, Czech, A, Schara-Schmidt, U, Preusse, C, Laner, A et al.. Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes. J Neuromuscul Dis. 2024.11 (3)625-645 PMID:38578900

Roos, A, Schmitt, LI, Hansmann, C, Hezel, S, Salmanian, S, Hentschel, A et al.. Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy. Acta Neuropathol. 2024.147 (1)53 PMID:38470509

Smeets, H, Verbrugge, B, Bulbena, X, Hristova, L, Vogt, J, van Beckhoven, I et al.. European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17-19, 2023, Barcelona, Spain. Neuromuscul Disord. 2024.36 16-22 PMID:38306718

Kleefeld, F, Horvath, R, Pinal-Fernandez, I, Mammen, AL, Casal-Dominguez, M, Hathazi, D et al.. Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2. Acta Neuropathol. 2024.147 (1)19 PMID:38240888

Gangfuß, A, Rating, P, Ferreira, T, Hentschel, A, Marina, AD, Kölbel, H et al.. A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy. J Neuromuscul Dis. 2024.11 (2)485-491 PMID:38217609

Rohm, M, Russo, G, Helluy, X, Froeling, M, Umathum, V, Südkamp, N et al.. Muscle diffusion MRI reveals autophagic buildup in a mouse model for Pompe disease. Sci Rep. 2023.13 (1)22822 PMID:38129558

Aschman, T, Wyler, E, Baum, O, Hentschel, A, Rust, R, Legler, F et al.. Post-COVID exercise intolerance is associated with capillary alterations and immune dysregulations in skeletal muscles. Acta Neuropathol Commun. 2023.11 (1)193 PMID:38066589

Pugliese, A, Della Marina, A, de Paula Estephan, E, Zanoteli, E, Roos, A, Schara-Schmidt, U et al.. Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series. J Neurol. 2024.271 (3)1331-1341 PMID:37923938

Leo, M, Schmitt, LI, Mairinger, F, Roos, A, Hansmann, C, Hezel, S et al.. Analysis of Free Circulating Messenger Ribonucleic Acids in Serum Samples from Late-Onset Spinal Muscular Atrophy Patients Using nCounter NanoString Technology. Cells. 2023.12 (19) PMID:37830588

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