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

Gangfuß, A, Goj, G, Polz, S, Della Marina, A, Hentschel, A, Ahlbory, K et al.. Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort. J Neurol. 2024.272 (1)63 PMID:39680150

Saffari, A, Niesert, M, Cannet, C, Blaschek, A, Hahn, A, Johannsen, J et al.. Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using 1H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids. Int J Mol Sci. 2024.25 (22) PMID:39596191

Manis, C, Casula, M, Roos, A, Hentschel, A, Vorgerd, M, Pogoryelova, O et al.. Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy. Molecules. 2024.29 (21) PMID:39519852

Kraft, F, Rodriguez-Aliaga, P, Yuan, W, Franken, L, Zajt, K, Hasan, D et al.. Brain malformations and seizures by impaired chaperonin function of TRiC. Science. 2024.386 (6721)516-525 PMID:39480921

Demidov, G, Yaldiz, B, Garcia-Pelaez, J, de Boer, E, Schuermans, N, Van de Vondel, L et al.. Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses. NPJ Genom Med. 2024.9 (1)49 PMID:39461972

Holland, SH, Carmona-Martinez, R, O'Connor, K, O'Neil, D, Roos, A, Spendiff, S et al.. A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (Gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Receptor (AChRδ). Biomolecules. 2024.14 (10) PMID:39456185

Schaiter, A, Hentschel, A, Kleefeld, F, Schuld, J, Umathum, V, Procida-Kowalski, T et al.. Molecular composition of skeletal muscle in infants and adults: a comparative proteomic and transcriptomic study. Sci Rep. 2024.14 (1)22965 PMID:39362957

Dobelmann, V, Roos, A, Hentschel, A, Della Marina, A, Leo, M, Schmitt, LI et al.. Thrombospondin-4 as potential cerebrospinal fluid biomarker for therapy response in pediatric spinal muscular atrophy. J Neurol. 2024.271 (10)7000-7011 PMID:39240344

Roos, A, Häusler, M, Kollipara, L, Topf, A, Preusse, C, Stucka, R et al.. HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy. J Neuromuscul Dis. 2024.11 (5)1131-1137 PMID:39121134

Della Marina, A, Hentschel, A, Stenzel, M, Schara-Schmidt, U, Osmanovic, A, Ruck, T et al.. Lipid and protein imbalances in muscle of a FAR1-patient with a heterozygous de novo variant. J Neuropathol Exp Neurol. 2024.83 (11)979-983 PMID:39074165

Chiu, C, Küchler, A, Depienne, C, Preuße, C, Marina, AD, Reis, A et al.. Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome. Skelet Muscle. 2024.14 (1)15 PMID:39026379

Bertino, F, Mukherjee, D, Bonora, M, Bagowski, C, Nardelli, J, Metani, L et al.. Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus. Cell Rep Med. 2024.5 (7)101647 PMID:39019006

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