NeurOmics website

NeurOmics website

Integrated European Project on Omics Research of
Rare Neuromuscular and Neurodegenerative Diseases
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    • Coordination
    • Innovation council
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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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University of Ferrara

Department of Medical Sciences, University of Ferrara Unit of Medical Genetics

The UNIFE  has an international top position in research that is characterized by an interaction between fundamental research and patient care. The UNIFE has a long standing interest in NMDs. It hosts cutting edge genomics facilities.

The Medical Genetics Service consists of a Genetic Counselling
Outpatients service, in charge for prenatal, postnatal, presymptomatic and predictive counselling and molecular diagnosis for genetic disorders.

The service has a computing facility with a data bank (DNA and urine) with patient’s data (MATRIX) with more than 12000 DNAs from a large variety of genetic diseases. The Unit supports a psychological
service for  predictive tests. The molecular diagnostics is carried out for several mendelian diseases including muscular dystrophies, cystic fibrosis, thalassemias, mental retardation, peripheral neuropathies, cardiomyopathies, deafness, and other rare diseases. Services of Cytogenetics, Immunogenetics  and oligonucleotides synthesis are also present in the Unit .

Research in detail

One of the major research activities regards molecular bases of neuromuscular disorders, with special interest and major research effort is concentrated on dystrophinopathies, congenital myopathies as Collagen VI disorders  and other hereditary neuromuscular pathologies. The UNIFE medical genetic research aims at identifying gene defects, functional studies both in vitro and in vivo systems to modulate mutation effects, using novel delivery system to release drugs. The UNIFE researchers have identified novel pre-clinical therapies for Duchenne muscular dystrophy and Collagen VI myopathies and also participate to innovative clinical trials for congenital myopathies and dystrophinopathies. Through the BIO-NMD project the Section is working on  the identification of molecular biomarkers using an omics approach. The section is an excellence Center, with registered activity  both in research and diagnostics at national level (Italian Institute of Health and Regione Emilia-Romagna , Italy).

Further details can be found here.

Role within Neuromics

UNIFE participates in workpackage 2 , gene discovery in neuromuscular diseases, on the disease-specific tasks of congenital myopathies and ataxias.

Related projects

RARER (n. 6786-2012)
Gene discovery in rare muscular diseases

Grant to AF financed by the Regione Emilia Romagna (Italy)

Workpackage involvement

  • Workpackage 6 - Diagnostic read outs for predicting disease modification
  • Workpackage 5 - Development and implementation of disease group overlapping NGS-based diagnostic panels
  • 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 8 - Bioinformatic tools for diagnostic prediction

Partner details

via Fossato di Mortara, 74
Ferrara
Italy
+39 (0)532 974404
www.unife.it

Contacts


Annarita Armaroli

Francesca di Raimo

Maria Sofia Falzarano

Alessandra Ferlini

Francesca Gualandi

Marcella Neri

Chiara Passarelli

Chiara Scotton

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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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