NeurOmics website

NeurOmics website

Integrated European Project on Omics Research of
Rare Neuromuscular and Neurodegenerative Diseases
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    • Coordination
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  • News
    • News & events
      • Annual project reports
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      • 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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Newcastle University

Institute of Genetic Medicine
Newcastle University

Newcastle University has an excellent pedigree in research and teaching with a strong interdisciplinary research base. In the UK it ranks in the top 5 for both hospital- and laboratory-based clinical subjects, with two-thirds of the outputs classified as world leading or internationally excellent in the areas of ageing, chronic disease, genetics and stem cells.

The MRC Centre for Neuromuscular Diseases at Newcastle

The MRC Centre for Neuromuscular Diseases at Newcastle is a clinical and research reference centre that forms part of the Institute of Genetic Medicine, a leading research institute within the university that works together with the Newcastle hospitals.  It is an internationally recognised centre of excellence for diagnosis, management and research into inherited neuromuscular diseases. In partnership with the Institutes of Neurology and Child Health at University College London, the Newcastle centre was selected to be part of the UK Medical Research Council’s first translational research centre for neuromuscular diseases,  an initiative which aims to promote multidisciplinary translational research activity in these diseases.

Professors Kate Bushby, Volker Straub and Hanns Lochmüller head the Centre and hold joint appointments between Newcastle University and the National Health Service (NHS). Their time is split between research and clinical commitments, both of which primarily focus on muscle disease. Research in the centre is supported by grants from numerous national and international awarding bodies. The centre is a globally leading neuromuscular clinical trial site involved in multiple industry-sponsored trials and is coordinating the European arm of the largest ever neuromuscular trial, an NIH-funded trial on steroid dosing regimes in Duchenne muscular dystrophy involving 60 centres.

Muscle clinics and diagnostic referrals

In addition to housing the regional diagnostic service for neuromuscular diseases for the northern region, the centre is the base for the national diagnostic and advisory service for the limb girdle muscular dystrophies and attracts both clinical and laboratory referrals from the UK and beyond. The clinical team based at the centre runs paediatric and adult clinics for over 1200 neuromuscular patients annually throughout the North of England. Clinics are held both in Newcastle and at a range of other locations throughout the region, in conjunction with local physiotherapists and other local staff. The centre has collaborative links with colleagues in cardiology, respiratory support, orthopaedics, neuropathology and other specialities.  It welcomes visiting doctors and other staff for specialised training in neuromuscular disease diagnosis and management.

Role within Neuromics

WP 12 leaders: Impact and Communication
WP 13 leaders: Research Infrastructure

Contribute to WP1: Deep phenotype analysis
Contribute to WP2: Identification of novel disease genes
Contribute to WP3: Identification of disease modifiers

Related projects

The centre is highly active internationally in rare disease and neuromuscular networking and healthcare policy initiatives. Since 2012 it has coordinated the EUCERD Joint Action on Rare Diseases, responsible for aiding the European Commission with the preparation and implementation of Community activities in the field of rare diseases. It also formerly coordinated and still plays a leading role in the Neuromuscular Network of Excellence TREAT-NMD. Staff have also been in key roles in other European projects, including BIO-NMD, CARE-NMD, NMD-Chip and EuroBioBank.

Most notably, Newcastle University plays host to coodination office for the RD-Connect project.

Policy, Ethics and Life Sciences

Policy, Ethics and Life Sciences (PEALS) is a leading research centre in the University’s Department of Sociology. 85% of the department’s research is deemed world-leading, internationally excellent or internationally recognised. PEALS is recognised for its world leadership in examining the complex questions raised by innovations in the medical and life sciences. Its primary aim is to produce world class research focused on the social and ethical debates around the contemporary life sciences. Working with a wide range of academic and community-based partners, it aims to develop rigorous and socially engaged analysis, innovative teaching, and public dialogue that informs and contributes to future practices and policies.

PEALS works to foster knowledge exchange between researchers and other stakeholders, including: policymakers, practitioners, commercial developers, and diverse publics. The ‘PEALS model’ involves the close integration of international research with excellent continuing professional development, and a lively programme of public engagement. PEALS staff have been involved on the Ethics and Governance Council of UK Biobank, including advising the council in involving the public in biobanks research and governance.
PEALS has been involved in directing and conducting research on ethical and social issues for a number of European projects, including TREAT-NMD, NMD-Chip, BIO-NMD, Genetics of Healthy Ageing (GEHA), DGEMap and SmartHEALTH. PEALS is a founder and active member of the international research consortia, ‘Ethics of Family in Health and Social Care’ and ‘Provision and Acquisition of Reproductive Tissue for Science’. PEALS staff are involved in the E-Rare2 External Advisory Board.

The key research strengths at PEALS currently address themes across:

  • Reproductive and Genetic Medicine
  • Families, Kinship and Childhood
  • Embodiment and Identity
  • Research Ethics

Workpackage involvement

  • Workpackage 12 - Impact and communication
  • Workpackage 13 - Research infrastructure
  • Workpackage 9 - Omics-assisted therapy development
  • Workpackage 1 - Deep phenotype analysis in pre-symptomatic and symptomatic NDD/NMD patients
  • Workpackage 7 - Omics-based biomarkers for progression and therapy monitoring related to disease pathways
  • Workpackage 2 - Identification of novel disease genes in NDD/NMD patients
  • Workpackage 3 - Identification of modifying factors in cohorts enriched by deep phenotyping
  • Workpackage 8 - Bioinformatic tools for diagnostic prediction

Partner details

Centre for Life
Newcastle upon Tyne
United Kingdom
+44 (0)191 241 8616
www.ncl.ac.uk/igm

Contacts


Daniel Cox

Michael Hails

Elizabeth Harris

Hanns Lochmüller

Mojgan Reza

Volker Straub

Cathy Turner

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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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