Computational Health Center
Institute of Neurogenomics
At the Institute of Neurogenomics (ING), we study the genomic basis of neurological diseases to pave the way to a healthier life.
At the Institute of Neurogenomics (ING), we study the genomic basis of neurological diseases to pave the way to a healthier life.
Our Mission
Our overall goal is to identify the genomic basis of neurological diseases in order to improve the diagnosis of our patients and provide tailored personalized treatment. We seek to understand the genomic architecture of complex inherited diseases and to study the underlying molecular mechanisms that burden patients with an increased susceptibility. Understanding predisposition allows us to model how environmental factors coalesce to amplify disease manifestation. This knowledge helps us to formulate precise treatments for our patients, taking into consideration their genetic makeup as well as “multi-omic” information. Ultimately, we want to combat disease by predicting susceptibility at an early stage and then preventing the onset.
Our approach is to combine clinical insight gleaned from our patients with high-throughput “omics” analysis such as array-based genotyping, next generation sequencing, and analysis of the proteome, transcriptome and other omics layers. We then investigate the functional relevance of identified markers using cellular and animal models.
We partner with specialized outpatient clinics at the Klinikum rechts der Isar of the Technische Universität München and specialized hospitals in order to learn the needs of our patients. Moreover, with respect for patients and their family’s cooperative spirit, we can transfer the knowledge we gain directly back into the clinic for prevention, self-observation and treatment.
People at ING
Silke Baselice-Denkmann
Personal Assistant Prof. Winkelmann
PostDoc
wissenschaftlicher Mitarbeiter
Technical Assistant
PhD
PhD
Post Doc
PhD Student
Post Doc
Senior Scientist
PostDoc
Staff Scientist
Assistant
Post Doc
PhD student
PhD student
PhD student
PhD student
wissenschaftlicher Mitarbeiter
PhD candidate
Neurologist /RLS Ambulanz
Deputy Head
Senior Scientist
wissenschaftliche Mitarbeiterin
PhD student
Technical Assistant
Senior Scientist
Senior Scientist, FA für Humangenetik
Senior Scientist, FA für Humangenetik
Senior Scientist
Publications
Jech, R. ; Havránková, P. ; Tsoma, E. ; Kunc, L. ; Krajča, T. ; Necpál, J. ; Ulmanová, O. ; Tomic, A. ; Dzinovic, I. ; Rektorová, I. ; Baláž, M. ; Serranová, T. ; Jaselska, S. ; Giertlova, M. ; Kulcsarova, K. ; Lackova, A. ; Harvanova, D. ; Ostrozovicova, M. ; Han, V. ; Škorvánek, M. ; Zech, M.
Collaborative genomics for dystonia in Central and Eastern Europe: Successes achieved, new frontiers ahead.Magocova, V. ; Svorenova, T. ; Han, V. ; Bánoci, J. ; Kaťuch, V. ; Kollova, A. ; Knorovsky, K. ; Ostrozovicova, M. ; Zech, M. ; Skorvanek, M.
Long-term benefit of GPi-DBS in two siblings with BCL11B-related dystonia: An uncommon but potentially treatable condition.Liu, Z. ; Duan, X. ; Peymani, F. ; Wang, J. ; Bao, C. ; Xu, C. ; Zou, Y. ; Zhang, Z. ; Zhang, Y. ; Li, T. ; Pavlov, M. ; Wang, J. ; Song, M. ; Song, T. ; Han, X. ; Sun, M. ; Shen, D. ; Duan, R. ; Jiang, H. ; Xu, M. ; Prokisch, H. ; Fang, F.
RNA sequencing resolves cryptic pathogenic variants in mitochondrial disease.Tan, N.B. ; Gautschi, M. ; Raum, M. ; Hock, D.H. ; Kopajtich, R. ; Wang, J. ; Qian, X. ; Sharma, T. ; Green, T.E. ; Nuoffer, J.M. ; Bell, K.M. ; Pospieszny, K. ; Stait, T. ; Pike, C. ; Cao, M. ; White, S.M. ; Thorburn, D.R. ; Brunet, T. ; Wagner, M. ; Müller-Felber, W. ; Zeng, L. ; Klopstock, T. ; Schaller, A. ; Liu, J. ; Stroud, D.A. ; Prokisch, H.
Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.Harrer, P. ; Kittke, V. ; Saparov, A. ; Knaus, A. ; Zeidler, S. ; Schot, R. ; Kraft, F. ; Begemann, M. ; Koudijs, S. ; Sorrentino, U. ; Zhao, C. ; Dzinovic, I. ; Pavlov, M. ; Graf, E. ; Stehr, A.M. ; Krawitz, P.M. ; Wilhelm, C. ; Biskup, S. ; Alsalloum, F. ; Berweck, S. ; Winkelmann, J. ; Oexle, K. ; Kurth, I. ; Korenke, G.C. ; Zech, M.
Neurodevelopmental disorder with dystonia and chorea linked to de novo variants in the splicing regulator SRRM4.Tibbe, D. ; Vogt, M.R. ; Holling, T. ; Schlieben, L.D. ; Kortüm, F. ; Shoukier, M. ; Bagowski, C. ; Distelmaier, F. ; Averdunk, L. ; Knaus, A. ; Krawitz, P. ; Kuechler, A. ; Lainka, E. ; Stalke, A. ; von Hardenberg, S. ; Auber, B. ; Pfister, E.D. ; Reversade, B. ; Sabbagh, A. ; Bertoli-Avella, A.M. ; Alawbathani, S. ; Palmer, E.E. ; Chauhan, M. ; Rius, R. ; Kim, Y. ; Papingi, D. ; Bartholdi, D. ; Braun, D. ; Maier, O. ; Dinwiddie, A. ; Steichen-Gersdorf, E. ; Janecke, A.R. ; Tiulpakov, A. ; Zernov, N. ; Arismendi, M.I. ; Jorge, A.A.L. ; Goel, H. ; Dreyer, L. ; Loughman, L. ; Prokisch, H. ; Borgmann, K. ; Kutsche, K.
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.Ottaviani, D. ; Bacchin, R. ; Pjeçi, A. ; Malaguti, M.C. ; Longo, C. ; Sarubbo, S. ; Giometto, B. ; Dzinovic, I. ; Zech, M. ; Di Fonzo, A. ; Monfrini, E.
CACNA1C-related channelopathy presenting with adult-onset combined dystonia-parkinsonism: A novel neurological presentation.Krygier, M. ; Sitek, E.J. ; Chylińska, M. ; Ziętkiewicz, S. ; Zawadzka, M. ; Dulski, J. ; Schinwelski, M. ; Kostrzewa, G. ; Wierzba, J. ; Płoski, R. ; Zech, M. ; Mazurkiewicz-Bełdzińska, M.
Beyond SGCE: Expanding the clinical and molecular spectrum of KCTD17- and KCNN2-related myoclonus-dystonia.Tsoma, E. ; Studeniak, T. ; Jech, R. ; Zech, M. ; Havrankova, P. ; Růžička, E. ; Kunc, L. ; Chomolyak, Y.
Mixed movement disorder caused by ADCY5 pathogenic variant successfully treated with caffeine: A case from Ukraine.Lucas, M.C. ; Keßler, T. ; Benet-Pages, A. ; Holinski-Feder, E. ; Laner, A. ; Klink, B.
Validation structures for sequence variants of uncertain significance in hereditary cancer.