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
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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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University College London – ICH

Institute of Child Health
University College London - ICH

UCL Institute of Child Health (ICH) which, together with its clinical partner Great Ormond Street Hospital for Children (GOSH), forms the largest concentration of children’s health research outside North America. ICH pursues an integrated, multidisciplinary approach to enhance understanding, diagnosis, therapy and prevention of childhood disease.  A broad range of paediatric issues is covered, from molecular genetics to population health sciences. All specialties as they relate to children’s health are included so that ICH fulfils the role of a world-leading academic establishment in paediatrics.  In keeping with a commitment to disease prevention, ICH is active in teaching and research aimed at developing interventions to promote health both during childhood and in the later years of life. This multi-disciplinary approach is necessitated by the important principle that the child is not merely a small adult.

ICH was established in 1945 and, in 2006, joined UCL’s newly-formed Faculty of Biomedical Sciences, becoming the largest of its 14 Divisions and Institutes. ICH has maintained a particularly close relationship with GOSH throughout its sixty-three year existence. These close links have enabled ICH to pursue medical research in the context of child health and disease, based upon an integrated approach of careful clinical observation and scientific investigation. This allows an understanding of disease mechanisms and, in turn, leads to precise diagnosis and development of new therapies.

The Dubowitz Neuromuscular Centre (DNC) is part of the ICH. It provides a multidisciplinary service as a leading clinical and research centre specialising in neuromuscular disorders affecting children. The DNC provides clinical assessment, diagnostic services and advice on treatment and rehabilitation. The DNC is also involved in clinical trials, basic research focusing on understanding the cause of neuromuscular diseases in childhood and identifying novel therapeutic intervention.

UCL Institute of Child Health’s Mission Statement:

Improve the health and wellbeing of children, and the adults they will become, through world-class research, education and public engagement.

Role within Neuromics

UCL Institute of Child Health is the disease coordinator for congenital muscular dystrophies and myopathies (CMDs/CMY). Through the use of UCL clinical cohorts of patients and resources of the ENMC consortia and TREAT-NMD network, we will provide deep phenotypic characterization of 150 patients with undiagnosed CMD and CMY. We will also be involved in the identification of novel disease genes in the selected CMD and CMY patients by applying whole exome sequencing. Furthermore, we will test and validate an indirect approach for treatment of CMD by correcting the affected pathway. UCL Institute of Child Health will contribute mainly to SP1: Deep phenotype analysis and OMICS-based identification of novel genes, modifiers and biomarkers: WP1 – Deep phenotype analysis in presymptomatic and symptomatic NDD/NMD patients; WP2 – Identification of novel disease genes in NDD/NMD patients and SP3: Omics to elucidate pathogenesis and guide therapy: WP9 – Omics-assisted therapy development.

Related projects

  • BIO-NMD
  • TREAT-NMD
  • NMD-CHIP
  • MyoAmp
  • BBMRI

Workpackage involvement

  • Workpackage 1 - Deep phenotype analysis in pre-symptomatic and symptomatic NDD/NMD patients
  • Workpackage 2 - Identification of novel disease genes in NDD/NMD patients
  • Workpackage 9 - Omics-assisted therapy development
  • Workpackage 8 - Bioinformatic tools for diagnostic prediction

Partner details

30 Guilford Street
London
United Kingdom
+44 (0) 20 7242 9789
www.ucl.ac.uk/ich/

Contacts


Jennifer Morgan

Francesco Muntoni

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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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