NeurOmics website

NeurOmics website

Integrated European Project on Omics Research of
Rare Neuromuscular and Neurodegenerative Diseases
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    • News & events
      • Annual project reports
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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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Gert-Jan van Ommen

Gert-Jan van OmmenDepartment of Human Genetics (LUMC, the Netherlands), Director Centre for Medical Systems Biology (CMSB), Director BBMRI-NL
Leiden University Medical Center – LUMC
Email - Gert-Jan

Prof. dr. Gert-Jan B. van Ommen, PhD, is the former head of the Department of Human Genetics of Leiden University Medical Center (LUMC) and founder of the Leiden Genome Technology Center (LGTC), a principal genomics facility in the Netherlands. He is Director of the Center for Medical Systems Biology, CMSB, one of four Centers of Excellence established in 2003 by the Netherlands Genome Initiative aiming to improve diagnosis, therapy and prevention of common and rare diseases, and board member of the Netherlands Medical Genetics Centre (MGC), and the Center for Biomedical Genetics (CBG).Van Ommen has as major research interests in the development and application of genome research and diagnostic technology for disease study, diagnosis, therapy and prevention, including the societal aspects of genetic advances. Members of his department have contributed to the finding of the gene defects and disease mechanisms underlying Duchenne Muscular Dystrophy, Huntington Disease, Polycystic Kidney Disease, FacioScapulohumeral Muscular Dystrophy, Hereditary Neuropathies, Fragile X Syndrome, Rubinstein-Taybi Syndrome, Familial Hemiplegic Migraine and Episodic Ataxia. His group has pioneered the diagnosis of genetic disease, performing the first prenatal diagnosis using DNA markers of a disease (DMD) of which the gene was (then) still unknown, developed many gene mapping techniques, generating the first megabase map of a human gene (DMD), and developed several innovative mutation detection techniques.

As of 1998, his group has been pioneering the exon-skipping approach for therapy of Duchenne Muscular Dystrophy. After preclinical research in patient cells and mice, this approach is now the potential DMD therapy closest to market. In collaboration with the Leiden biotech company Prosensa, in 2007 the first-in-man proof-of-concept study was performed and in 2009 Prosensa completed the first successful phase I/II systemic trial. Further exon skip developments are undertaken for HD, CADASIL, LGMD (dysferlin) and rheumatoid arthritis.

Van Ommen is a founding member of BBMRI (Biobanking and Biomolecular Research Infrastructure, the European ESFRI biobanking infrastructure established in 2007), connecting 50 partners and 200 associated partners in 33 European countries; founder and coordinator of the national Dutch biobank infrastructure BBMRI-NL, established in 2009, and board member (treasurer) of the Public Population Project in Genomics (P3G), the global biobanking organization, and participates in several EU FP7 projects, including ENGAGE, analyzing GWA studies of ca. 90.000 samples across Europe. He is Editor-in-chief of the European Journal of Human Genetics, past president of HUGO and of the European and Dutch Societies of Human Genetics. He is a member of several National, EU and HUGO committees in the fields of Genetics, Innovative Health Care, Genomics, Bioinformatics, Biobanking, Ethics and IP issues.

Partner details

S4-P/building 2
PO Box 9600
Leiden
Netherlands
0031-71-526 9436
www.lumc.nl
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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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