genomic medicine, human genetics, neurogenetics

At the Institute of Neurogenomics (ING), we study the genomic basis of neurological diseases to pave the way to a healthier life.

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.

We strive to achieve comprehensive genetic and multi-omic disease characterization to enable mechanistic understanding as well as improved health outcomes via enhanced prediction, prevention, diagnosis, and personalized treatment.

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We address the principles of neural biosystems, their genetic foundations, and their pathological alterations. We use the results of our investigations for improving diagnostics and disease prediction.

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Big data and artificial intelligence concept.

We aim at providing computational solutions for patient diagnosis and treatment.

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An international study led by Helmholtz Munich and Forschungszentrum Jülich has identified genetic factors that influence the shape of subcortical brain regions – advancing beyond previous research that focused primarily on brain volume. The findings…

The German Society of Human Genetics (GfH) has awarded Dr. Holger Prokisch of Helmholtz Munich the GfH Medal of Honor for his exceptional contributions to human genetic research. This prestigious award is given annually to researchers who have…

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Researchers at Helmholtz Munich and the Technical University of Munich (TUM) together with international collaborators have conducted the largest genetic investigation of the restless legs syndrome to date. Their findings, published in Nature…

Sorrentino, U. ; Pavlov, M. ; Mirza-Schreiber, N. ; Brugger, M. ; Brunet, T. ; Tsoma, E. ; Saparov, A. ; Dzinovic, I. ; Harrer, P. ; Stehr, A.M. ; Wagner, M. ; Tilch, E. ; Wallacher, B. ; Alhasan, S. ; Koy, A. ; Di Fonzo, A. ; Kolníková, M. ; Kusikova, K. ; Havránková, P. ; Tautanova, R. ; Lösecke, S. ; Eck, S. ; Boesch, S. ; Necpál, J. ; Škorvánek, M. ; Jech, R. ; Prokisch, H. ; Winkelmann, J. ; Oexle, K. ; Graf, E. ; Zech, M.

Integrating long-read nanopore sequencing for precision resolution of genomic variants in dystonia.

Krenn, M. ; Nenning, K.H. ; Aull-Watschinger, S. ; Pataraia, E. ; Wagner, M. ; Zimprich, F.

ADAM23 haploinsufficiency as a putative oligogenic contributor in an individual with focal epilepsy.

Heger, L.M. ; Kertess, L. ; Kaufhold, C. ; Gubinelli, F. ; Cardona-Alberich, A. ; Özata, G. ; Müller, S.A. ; Tschirner, S.K. ; Stehling, O. ; Schifferer, M. ; Peron, C. ; Tiranti, V. ; Lill, R. ; Iuso, A. ; Zecca, L. ; Strupp, M. ; Oertel, W.H. ; Lichtenthaler, S.F. ; Burbulla, L.F.

Patient-derived neurons exhibit α-synuclein pathology and previously unrecognized major histocompatibility complex class I elevation in mitochondrial membrane protein-associated neurodegeneration.

Krenn, M. ; Wagner, M. ; Schüller, H.J. ; Pugna, I. ; Rath, J. ; Zulehner, G. ; Keritam, O. ; Weng, R. ; Koneczny, I. ; Schiavo, E. ; Damato, V. ; Kleinveld, V.E.A. ; Kiss, C. ; Gold, V. ; Quasthoff, S. ; Masi, G. ; O'Connor, K.C. ; Canning, J. ; Waters, P.J. ; Lenz, D. ; Blüthner, M. ; Pavlov, M. ; Graf, E. ; Winkelmann, J. ; Löscher, W.N. ; Zimprich, F. ; Cetin, H.

Screening for congenital myasthenic syndromes in adults with seronegative myasthenia gravis using next-generation sequencing.

Travaglini, L. ; Jeon, C. ; Rizza, T. ; Novelli, A. ; Specchio, N. ; Piluso, A. ; Bertini, E. ; Iuso, A. ; Garone, G.

Biallelic variants in SLC27A3 cause a complex form of neurodegeneration with brain iron accumulation.

Oberlack, A. ; Wagner, M.

Genetic variants and disease mechanisms - Lessons from monogenic childhood epilepsies.

Zhang, F. ; Dorn, T. ; Gnutti, B. ; Anikster, Y. ; Kuebler, S. ; Ahrens-Nicklas, R. ; Gosselin, R. ; Rahman, S. ; Durst, R. ; Zanuttigh, E. ; Güra, M. ; Poch, C.M. ; Meier, A.B. ; Laugwitz, K.L. ; Schüller, H.J. ; Messias, A.C. ; Sibon, O.C. ; Finazzi, D. ; Rippert, A.L. ; Li, D. ; Truxal, K. ; Nandi, D. ; Lampert, B.C. ; Yeo, M. ; Gardham, A. ; Nissan, B. ; Horowitz Cederboim, S. ; Moretti, A. ; Iuso, A.

Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models.

Brunet, T. ; Zech, M. ; Schatz, U.A. ; Adamovičová, M. ; Wagner, M. ; Graf, E. ; Berutti, R. ; Weigand, H. ; Jech, R. ; Meitinger, T. ; Winkelmann, J. ; Brugger, M.

De novo variants in PPFIA2 in individuals with neurodevelopmental disorders.

Stefani, A. ; Tang, Q. ; Clemens, S. ; DelRosso, L.M. ; García-Borreguero, D. ; Ferri, R. ; Frauscher, B. ; Holzknecht, E. ; Provini, F. ; Schormair, B. ; Winkelman, J.W. ; Högl, B.

Keritam, O. ; Haas, P. ; Klotz, S. ; Kastrati, K. ; Krenn, M. ; Wagner, M. ; Hasenoehrl, T. ; Weng, R. ; Zulehner, G. ; Kasprian, G. ; Regelsberger, G. ; Kiener, H. ; Gelpi, E. ; Zimprich, F. ; Cetin, H. ; Scherer, T. ; Jengojan, S.

Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weakness.