Michael Zech

Short CV

PD Dr. Michael Zech is a board-certified neurologist and board-certified geneticist with special expertise in neurogenetic disorders and molecular mechanisms. He completed his studies in Medicine at the Technical University of Munich, Germany, following internships at the University of Zurich, Switzerland, and Cornell University New York, USA. Since 2012 his research has focused on the genetic underpinnings of rare movement disorders and he has completed physician scientist programs at Helmholtz Center Munich, Germany. He was a guest researcher at the Department of Neurology and Neurological Sciences of Stanford University School of Medicine, USA, and he has established extensive collaborative networks in the field of the movement disorder dystonia. Michael Zech is a member of the International Cerebral Palsy Genomics Consortium, the Medical and Scientific Advisory Council of the Dystonia Medical Research Foundation (Chicago, USA), and the Neurogenetics expert panel of the European Academy of Neurology.

Selected Awards

• 2023, David Marsden Award, Dystonia Europe
• 2018, Oppenheim Award, Deutsche Dystonie Gesellschaft
• 2014, Deutscher Akademischer Austauschdienst (DAAD) scholarship, Stanford University School of Medicine, Genome Center Stanford, Palo Alto, USA

Research Interests

Investigating the genetic causes and underlying mechanisms of movement disorders with a focus on dystonia and other hyperkinetic syndromes. Using large scale next generation sequencing technologies, multi-omics analyses, computational applications, and model system validation studies for diagnosing phenotypes, drug target discovery, and translating the findings for precision medicine.

Selected Publications

• P. Harrer, M. Skorvanek, V. Kittke, I. Dzinovic, F. Borngraber, M. Thomsen, V. Mandel, T. Svorenova, M. Ostrozovicova, K. Kulcsarova, R. Berutti, H. Busch, F. Ott, R. Kopajtich, H. Prokisch, K.R. Kumar, N.E. Mencacci, M.A. Kurian, A. Di Fonzo, S. Boesch, A.A. Kuhn, U. Blumlein, K. Lohmann, B. Haslinger, D. Weise, R. Jech, J. Winkelmann, M. Zech, Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction, Mov Disord  (2023).
• P. Harrer, A. Schalk, M. Shimura, S. Baer, N. Calmels, M.A. Spitz, M.A. Warde, E. Schaefer, V.M.S. Kittke, Y. Dincer, M. Wagner, I. Dzinovic, R. Berutti, T. Sato, T. Shirakawa, Y. Okazaki, K. Murayama, K. Oexle, H. Prokisch, V. Mall, I. Melcak, J. Winkelmann, M. Zech, Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions, Ann Neurol  (2022).
• I. Dzinovic, J. Winkelmann, M. Zech, Genetic intersection between dystonia and neurodevelopmental disorders: Insights from genomic sequencing, Parkinsonism Relat Disord  (2022).
• I. Dzinovic, S. Boesch, M. Skorvanek, J. Necpal, J. Svantnerova, P. Pavelekova, P. Havrankova, E. Tsoma, E. Indelicato, E. Runkel, V. Held, D. Weise, W. Janzarik, M. Eckenweiler, S. Berweck, V. Mall, B. Haslinger, R. Jech, J. Winkelmann, M. Zech, Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes, Parkinsonism Relat Disord 102 (2022) 1-6.
• M. Zech, R. Kopajtich, K. Steinbrucker, C. Bris, N. Gueguen, R.G. Feichtinger, M.T. Achleitner, N. Duzkale, M. Perivier, J. Koch, H. Engelhardt, P. Freisinger, M. Wagner, T. Brunet, R. Berutti, D. Smirnov, T. Navaratnarajah, R.J.T. Rodenburg, L.S. Pais, C. Austin-Tse, M. O'Leary, S. Boesch, R. Jech, S. Bakhtiari, S.C. Jin, F. Wilbert, M.C. Kruer, S.B. Wortmann, M. Eckenweiler, J.A. Mayr, F. Distelmaier, R. Steinfeld, J. Winkelmann, H. Prokisch, Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes, Ann Neurol 91(2) (2022) 225-237.
• M. Zech, K.R. Kumar, S. Reining, J. Reunert, M. Tchan, L.G. Riley, A.P. Drew, R.J. Adam, R. Berutti, S. Biskup, N. Derive, S. Bakhtiari, S.C. Jin, M.C. Kruer, T. Bardakjian, P. Gonzalez-Alegre, I.J. Keller Sarmiento, N.E. Mencacci, S.J. Lubbe, M.A. Kurian, F. Clot, A. Meneret, J.M. de Sainte Agathe, V.S.C. Fung, M. Vidailhet, M. Baumann, T. Marquardt, J. Winkelmann, S. Boesch, Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement, Mov Disord 37(1) (2022) 137-147.
• N. Mirza-Schreiber*, M. Zech*, R. Wilson, T. Brunet, M. Wagner, R. Jech, S. Boesch, M. Skorvanek, J. Necpal, D. Weise, S. Weber, B. Mollenhauer, C. Trenkwalder, E.M. Maier, I. Borggraefe, K. Vill, A. Hackenberg, V. Pilshofer, U. Kotzaeridou, E.M.C. Schwaibold, J. Hoefele, M. Waldenberger, C. Gieger, A. Peters, T. Meitinger, B. Schormair, J. Winkelmann, K. Oexle, Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset, Brain  (2021).*equal contribution
• M. Zech, R. Jech, S. Boesch, M. Skorvanek, J. Necpal, J. Svantnerova, M. Wagner, A. Sadr-Nabavi, F. Distelmaier, M. Krenn, T. Serranova, I. Rektorova, P. Havrankova, A. Mosejova, I. Prihodova, J. Sarlakova, K. Kulcsarova, O. Ulmanova, K. Bechyne, M. Ostrozovicova, V. Han, J.R. Ventosa, T. Brunet, R. Berutti, M. Shariati, A. Shoeibi, S.A. Schneider, A. Kuster, M. Baumann, D. Weise, F. Wilbert, W.G. Janzarik, M. Eckenweiler, V. Mall, B. Haslinger, S. Berweck, J. Winkelmann, K. Oexle, Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study, Mov Disord 36(8) (2021) 1959-1964.
• M. Zech, R. Jech, S. Boesch, M. Skorvanek, S. Weber, M. Wagner, C. Zhao, A. Jochim, J. Necpal, Y. Dincer, K. Vill, F. Distelmaier, M. Stoklosa, M. Krenn, S. Grunwald, T. Bock-Bierbaum, A. Fecikova, P. Havrankova, J. Roth, I. Prihodova, M. Adamovicova, O. Ulmanova, K. Bechyne, P. Danhofer, B. Vesely, V. Han, P. Pavelekova, Z. Gdovinova, T. Mantel, T. Meindl, A. Sitzberger, S. Schroder, A. Blaschek, T. Roser, M.V. Bonfert, E. Haberlandt, B. Plecko, B. Leineweber, S. Berweck, T. Herberhold, B. Langguth, J. Svantnerova, M. Minar, G.A. Ramos-Rivera, M.H. Wojcik, S. Pajusalu, K. Ounap, U.A. Schatz, L. Polsler, I. Milenkovic, F. Laccone, V. Pilshofer, R. Colombo, S. Patzer, A. Iuso, J. Vera, M. Troncoso, F. Fang, H. Prokisch, F. Wilbert, M. Eckenweiler, E. Graf, D.S. Westphal, K.M. Riedhammer, T. Brunet, B. Alhaddad, R. Berutti, T.M. Strom, M. Hecht, M. Baumann, M. Wolf, A. Telegrafi, R.E. Person, F.M. Zamora, L.B. Henderson, D. Weise, T. Musacchio, J. Volkmann, A. Szuto, J. Becker, K. Cremer, T. Sycha, F. Zimprich, V. Kraus, C. Makowski, P. Gonzalez-Alegre, T.M. Bardakjian, L.J. Ozelius, A. Vetro, R. Guerrini, E. Maier, I. Borggraefe, A. Kuster, S.B. Wortmann, A. Hackenberg, R. Steinfeld, B. Assmann, C. Staufner, T. Opladen, E. Ruzicka, R.D. Cohn, D. Dyment, W.K. Chung, H. Engels, A. Ceballos-Baumann, R. Ploski, O. Daumke, B. Haslinger, V. Mall, K. Oexle, J. Winkelmann, Monogenic variants in dystonia: an exome-wide sequencing study, Lancet Neurol 19(11) (2020) 908-918.
• D. Steel*, M. Zech*, C. Zhao, K.E.S. Barwick, D. Burke, D. Demailly, K.R. Kumar, G. Zorzi, N. Nardocci, R. Kaiyrzhanov, M. Wagner, A. Iuso, R. Berutti, M. Skorvanek, J. Necpal, R. Davis, S. Wiethoff, K. Mankad, S. Sudhakar, A. Ferrini, S. Sharma, E.J. Kamsteeg, M.A. Tijssen, C. Verschuuren, M.E. van Egmond, J.M. Flowers, M. McEntagart, A. Tucci, P. Coubes, B.I. Bustos, P. Gonzalez-Latapi, S. Tisch, P. Darveniza, K.M. Gorman, K.J. Peall, K. Botzel, J.C. Koch, T. Kmiec, B. Plecko, S. Boesch, B. Haslinger, R. Jech, B. Garavaglia, N. Wood, H. Houlden, P. Gissen, S.J. Lubbe, C.M. Sue, L. Cif, N.E. Mencacci, G. Anderson, M.A. Kurian, J. Winkelmann, C. Genomics England Research, Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities, Ann Neurol 88(5) (2020) 867-877. *equal contribution
• M. Zech, S. Boesch, E.M. Maier, I. Borggraefe, K. Vill, F. Laccone, V. Pilshofer, A. Ceballos-Baumann, B. Alhaddad, R. Berutti, W. Poewe, T.B. Haack, B. Haslinger, T.M. Strom, J. Winkelmann, Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia, Am J Hum Genet 99(6) (2016) 1377-1387.