NeurOmics website

NeurOmics website

Integrated European Project on Omics Research of
Rare Neuromuscular and Neurodegenerative Diseases
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  • News
    • News & events
      • Annual project reports
      • Newsletter
      • Draft of EU data protection regulation
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  • Diseases
    • Disease overview
      • Ataxia
      • Congenital muscular dystrophy
      • Congenital myasthenic syndrome
      • Fronto-temporal lobe dementia
      • Hereditary motor neuropathies – Charcot-Marie-Tooth disease
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      • Hereditary spastic paraplegias
      • Huntington’s disease
      • Muscular channelopathy
      • Muscular dystrophy
      • Spinal muscular atrophy – Lower motor neuron disease
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  • Workpackages
    • Workpackages
      • 1 – Deep phenotype analysis in pre-symptomatic and symptomatic NDD/NMD patients
      • 2 – Identification of novel disease genes in NDD/NMD patients
      • 3 – Identification of modifying factors in cohorts enriched by deep phenotyping
      • 4 – Identification of hypothesis-driven biomarkers for disease progression
      • 5 – Development and implementation of disease group overlapping NGS-based diagnostic panels
      • 6 – Diagnostic read outs for predicting disease modification
      • 7 – Omics-based biomarkers for progression and therapy monitoring related to disease pathways
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      • 8 – Bioinformatic tools for diagnostic prediction
      • 9 – Omics-assisted therapy development
      • 10 – Elucidation of pathogenesis and monitoring of treatment
      • 11 – Modifier gene identification, prioritization and study
      • 12 – Impact and communication
      • 13 – Research infrastructure
      • 14 – Project Management
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  • Partners
    • Project partners
      • Agilent Technologies
      • Ariadne Diagnostics, LLC
      • Bio-Prodict
      • Cambridge University
      • deCODE genetics
      • German Center for Neurodegenerative Diseases (DZNE)
      • Institut National de la Santé et de la Recherche Médicale
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      • Leiden University Medical Center – LUMC
      • Newcastle University
      • Profilomic
      • Universitätsklinikum Freiburg
      • Universite d’Aix Marseille
      • University College London – ICH
      • University College London – IoN
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      • University College London – MRC
      • University Hospital Cologne
      • University of Antwerp – CDE
      • University of Ferrara
      • University of Milan
      • University of Tübingen
      • University of Western Australia
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  • Publication highlights
    • Publication highlights
      • 229th ENMC international workshop: Limb girdle muscular dystrophies – nomenclature and reformed classification, 17-19 March 2017, Naarden, The Netherlands

        Volker Straub, Alexander Murphy, Bjarne Udd


        Tracking disease progression non‐invasively in Duchenne and Becker muscular dystrophies

        Pietro Spitali, Kristina Hettne, Roula Tsonaka, Mohammed Charrout, Janneke van den Bergen, Zaïda Koeks, Hermien E. Kan, Melissa T. Hooijmans, Andreas Roos, Volker Straub, Francesco Muntoni,
        Cristina Al‐Khalili‐Szigyarto, Marleen J.A. Koel‐Simmelink, Charlotte E. Teunissen, Hanns Lochmüller, Erik H. Niks, Annemieke Aartsma‐Rus


        Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study

        Alhassane Diallo, Heike Jacobi, Arron Cook, Robyn Labrum, Prof Alexandra Durr, Prof Alexis Brice, Perrine Charles, Cecilia Marelli, Caterina Mariotti, Lorenzo Nanetti, Marta Panzeri, Maria Rakowicz, Anna Sobanska, Anna Sulek, Tanja Schmitz-Hübsch, Ludger Schöls, Holger Hengel, Prof Bela Melegh, Prof Alessandro Filla, Antonella Antenora, Jon Infante, Prof José Berciano, Bart P van de Warrenburg, Dagmar Timmann, Sylvia Boesch, Prof Massimo Pandolfo, Prof Jörg B Schulz, Peter Bauer, Paola Giunti, Jun-Suk Kang, Prof Thomas Klockgether, Sophie Tezenas du Montcel


        Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness

        David Owen, Ana Töpf, Veeramani Preethish‐Kumar, Paolo José Lorenzoni, Bas Vroling, Rosana Herminia Scola, Elza Dias‐Tosta, Argemiro Geraldo, Kiran Polavarapu, Saraswati Nashi, Daniel Cox, Teresinha Evangelista, John Dawson, Rachel Thompson, Jan Senderek, Steven Laurie, Sergi Beltran, Marta Gut, Ivo Gut, Atchayaram Nalini, Hanns Lochmüller


        RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases

        Hanns Lochmüller, Dorota M. Badowska, Rachel Thompson, Nine V. Knoers, Annemieke Aartsma-Rus, Ivo Gut, Libby Wood, Tina Harmuth, Andre Durudas, Holm Graessner, Franz Schaefer, Olaf Riess, RD-Connect consortium, NeurOmics consortium & EURenOmics consortium


        The Beta-Adrenergic Agonist Salbutamol Modulates Neuromuscular Junction Formation in Zebrafish Models of Human Myasthenic Syndromes

        Grace McMacken, Dan Cox, Andreas Roos, Juliane Müller, Roger Whittaker, Hanns Lochmüller


        Rare non-synonymous variants in SORT1 are associated with increased risk for frontotemporal dementia

        Stéphanie Philtjens, Sara Van Mossevelde, Julie van der Zee, Eline Wauters, Lubina Dillen, Mathieu Vandenbulcke, Rik Vandenberghe, Adrian Ivanoiu, Anne Sieben, Christiana Willems, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Barbara Borroni, Alessandro Padovani, Pau Pastor, Monica Diez-Fairen, Miquel Aguilar, Alexandre de Mendonça, Gabriel Miltenberger-Miltényi, Isabel Hernández, Merce Boada, Agustín Ruiz, Benedetta Nacmiass, Sandro Sorbi, Maria Rosário Almeida, Isabel Santana, Jordi Clarimón, Alberto Lleó, Giovanni B. Frisoni, Raquel Sanchez-Valle, Albert Lladó, Estrella Gómez-Tortosa, Ellen Gelpi, Marleen Van den Broeck, Karin Peeters, Patrick Cras, Peter P. De Deyn, Sebastiaan Engelborghs, Marc Cruts, Christine Van


        PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease

        Manisha Juneja, Abdelkrim Azmi, Jonathan Baets, Andreas Roos, Matthew J Jennings, Paola Saveri, Chiara Pisciotta, Nathalie Bernard-Marissal, Bernard L Schneider, Catherine Verfaillie, Roman Chrast, Pavel Seeman, Angelika F Hahn, Peter de Jonghe, Stuart Maudsley, Rita Horvath, Davide Pareyson, Vincent Timmerman


        Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy

        Pietro Spitali, Kristina Hettne, Roula Tsonaka, Ekrem Sabir, Alexandre Seyer, Jesse B.A. Hemerik, Jelle J. Goeman, Esther Picillo, Manuela Ergoli, Luisa Politano, Annemieke Aartsma-Rus


        Harmonising phenomics information for a better interoperability in the rare disease field

        Sylvie Maiellaa, Annie Olrya, Marc Hanauera, Valérie Lanneaua, Halima Lourghia, Bruno Donadillea, Charlotte Rodwella, Sebastian Köhlerc, Dominik Seelowc, Simon Juppe, Helen Parkinsone, Tudor Grozaf, Michael Brudnod, Peter N. Robinsonb, Ana Ratha


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Brunhilde Wirth

Brunhilde WirthHead of the Institute of Human Genetics
University Hospital Cologne
Email - Brunhilde

Prof. Wirth is Professor of Human Genetics and Head of the Institute of Human Genetics at the Medical Faculty of the University of Cologne in Germany. She graduated at the Faculty of Biology at the University of Bucharest in 1983. She gained a PhD at the Institute of Human Genetics at the University of Bonn in 1989. Before becoming an independent group leader in 1990, she spent one year of postdoc at the Imperial Cancer Research Laboratories in London in the group of Prof. Annemarie Frischauf.

Brunhilde Wirth worked from 1990-2003 at the Institute of Human Genetics in Bonn and received her venia legendi in Human Genetics and her speciality in Human Genetics in 1996. She was appointed as Head of the Institute of Human Genetics at the Medical Faculty of the University of Cologne in 2003, where she had the challenging opportunity to build up an entirely new Institute. Her main scientific interests are neurogenetics, molecular basis of diseases, epigenetics, therapy and modifying genes. Her particular focus is spinal muscular atrophy (SMA).

Prof Wirth contributed with over 100 original papers in this field and succeeded in making breakthrough contributions on the way from the gene to therapy of SMA. Her group successfully identified a first full protective SMA modifying gene. Brunhilde Wirth served on the board of the German Society of Human Genetics from 2002-2006, has been SPC member of the ESHG since 2005. Since 2009 she is chair of the scientific program committee of the ESHG. Brunhilde Wirth loves teaching and education of students and has become 2009 – as a successor of Prof. Victor McKusick – co-director of the European School of Medical Genetics.

Partner details

University Hospital of Cologne, Building 47, 9th floor
Kerpener Str. 34
Cologne
Germany
+49-(0)221-478-86464
www.humangenetik.uni-koeln.de
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The NeurOmics project has received funding from the European Union’s Seventh Framework Programme for research, technological development and demonstration under grant agreement no 2012-305121.

 
   

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