Beyond the exome

DFG funded Research Group

People of Beyond the exome

Prof. Dr. med. Markus Schuelke

Testbeschreibung Department of Neuropediatrics
Charité-Universitätsmedizin Berlin
Augustenburger Platz 1
D-13353 Berlin, Germany

Phone: +49 (0)30 450 566112
FAX: +49 (0)30 450 566920

Markus Schuelke, MD is a tenured full professor for Developmental Disorders of the Nervous System at the Charité University Hospital, Berlin. He is a member of the NeuroCure Cluster of Excellence at the Charité and a Principal Investigator at the Einstein Center for Neurosciences and the Einstein Center for Digital Future in Berlin, Germany. His clinical work is based at the Department of Neuropediatrics of the Children’s Hospital of the Charité. He received his doctorate at the Free University of Berlin in 1993 and worked as pediatrician and neuropediatrician in Germany (Cologne and Berlin), the Netherlands (Nijmegen), and India (Allahabad). From an early stage of his pediatric and neuropediatric career he was fascinated by the clinical and molecular detective work involved in the elucidation of the genetic and biochemical basis of rare inherited diseases of the nervous system. In the past years his group was the first to describe many novel genetic defects, especially in the field of mitochondrial and neuromuscular diseases. Due to the rapid emergence of Next Generation Sequencing technologies, his group collaborated with the bioinformatician Professor Dominik Seelow to develop freely accessible bioinformatic programs on the internet that were aimed to help clinicians and researchers to interpret the flood of data coming out of Next Generation Sequencing projects. Their most popular tool, MutationTaster (MutationTaster) receives several million requests each day and has been cited more than 3,000 times. Latest software developments comprise (MutationDistiller), combining gene variant and phenotype annotation and (RegulationSpotter) providing information about non-coding variants in the human genome. In collaboration with Professor Alessandro Prigione he is screening for pharmacologically active small molecules for treatment of mitochondrial disorders using human iPSC-derived neuronal models. Professor Schuelke is now concentrating on the interpretation of non-coding genetic variants in the regulatory genome especially in patients with congenital myopathies.

Publications (selection)

Lorenz C, Lesimple P, Bukowiecki R, Zink A, Inak G, Mlody B, Singh M, Semtner M, Mah N, Auré K, Leong M, Zabiegalov O, Lyras EM, Pfiffer V, Fauler B, Eichhorst J, Wiesner B, Huebner N, Priller J, Mielke T, Meierhofer D, Izsvák Z, Meier JC, Bouillaud F, Adjaye J, Schuelke M, Wanker EE, Lombès A, Prigione A. Human iPSC-Derived Neural Progenitors Are an Effective Drug Discovery Model for Neurological mtDNA Disorders. Cell Stem Cell 2017;20:659-674.e9.

Knierim E, Gill E, Seifert F, Morales-Gonzalez S, Unudurthi SD, Hund TJ, Stenzel W, Schuelke M. A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. Hum Genet 2017;136:903–10.

Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schöneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hübner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M. Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. Am J Hum Genet 2016;98:473–89.

Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 2014;11:361–2.

Schuelke M, Wagner KR, Stolz LE, Hübner C, Riebel T, Kömen W, Braun T, Tobin JF, Lee SJ. Myostatin mutation associated with gross muscle hypertrophy in a child. N Engl J Med 2004;350:2682–8.