Standardized analysis and sharing of genome-phenome data for neuromuscular and rare disease research through the RD-Connect platform

Main Author – Hanns Lochmüller

Professor Hanns Lochmüller trained as a neurologist in Munich (Germany) and Montreal (Canada). He was appointed chair of experimental myology in the neuromuscular research group at the Institute of Genetic Medicine of Newcastle University in 2007.

Hanns is the coordinator of RD-Connect, the EU project that has created global infrastructure for rare disease research. He is also current chair of the Interdisciplinary Scientific Committee of the International Rare Diseases Research Consortium (IRDiRC) and former chair of the Executive Committee of the TREAT-NMD Alliance. He is co-founder and former coordinator of the German muscular dystrophy network (MD-NET), and former scientific coordinator of EuroBioBank, a European network of biobanks for rare disorders.

His research interests are focused on the molecular genetics of the inherited myopathies and neuromuscular junction disorders and the study of animal models of these disorders as a means to understand their pathophysiology as well as to develop means to monitor disease progression and therapeutic interventions. His group’s ongoing work in these areas in cell and animal models of muscular dystrophy is concentrating on gene transfer, pharmacological interventions and cell therapy.

Within RD-Connect’s sister project Neuromics, Hanns is disease coordinator for the congenital myasthenic syndromes, and in this and several other exome sequencing projects is responsible for gene discovery and work on disease modifying factors influencing severity of phenotype.

This poster was presented as part of the EURO-NMD 1st Annual Meeting - Freiburg, Germany in November, 2017.

Contact Dorota Badowska about this poster at

Additional authors

S. Beltran1,2, D. Piscia1,2, S. Laurie1,2, J. Protasio1,2, A. Papakonstantinou1,2, A. Cañada3,14, J.M. Fernández3,14, M. Thompson6, R. Kaliyaperumal6, S. Lair7, P. Sernadela8, M. Girdea9, M. Brudno9, A. Blavier7, R. Thompson10, H. Lochmüller10, D. Badowska10, V. Straub10, M. Bellgard11, J. Paschall12, M. Roos6, P.A.C. ‘t Hoen6, A. Valencia3,14, D. Salgado4,5, C. Béroud4,5,13, I. Gut1,2 and the RD-Connect Consortium

1Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain, 2Universitat Pompeu Fabra (UPF), Barcelona, Spain, 3Centro Nacional de Investigaciones Oncológicas (CNIO) , Madrid, Spain, 4Aix-Marseille Université, Marseille, France, 5Inserm, UMR_S 910, Marseille, France, 6Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands, 7Interactive Biosoftware, Rouen, France, 8DETI/IEETA, University of Aveiro, Portugal, 9Centre for Computational Medicine, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada, 10John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, UK, 11Centre for Comparative Genomics, Murdoch University, Perth, Western Australia, 12European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Cambridge, United Kingdom, 13APHM, Hôpital TIMONE Enfants , Laboratoire de Génétique Moléculaire, Marseille, France, 14Instituto Nacional de Bioinformática (INB), Spain.

RD-Connect is a platform for rare disease research bringing together omics data (genomics, proteomics, transcriptomics) with biosample and clinical information at individual-patient, family or cohort level. It provides a centralized data repository and a user-friendly online platform. Whole-genome, exome or gene panel data are deposited at the European Genome-phenome Archive for long-term storage, then processed by RD-Connect’s standardised analysis and annotation pipeline to make data from different sequencing providers comparable. Clinical information is recorded in PhenoTips, simplifying clinical data entry using the Human Phenotype Ontology. Results are accessible to authorised users through the highly configurable Genome-Phenome Analysis (GPA) ( which enables filtering and prioritization of variants using common genomic location, effect, pathogenicity and population frequency annotations, enabling users to analyse genomic data of their own patients online and compare with other submitted cohorts. The GPA Platform enables data sharing at various levels. At the most basic (“does this variant exist in this cohort?”) is the Global Alliance Beacon ( At the next – finding patients in different databases with matching phenotype and candidate variant in the same gene – it is further developing Matchmaker Exchange (, allowing users of different systems to exchange information to find confirmatory cases. Finally, since patients have been consented for data sharing, authorized users can access datasets from other centres for further study. The Platform is open to any rare disease and already includes 2500 of datasets on neuromuscular and neurodegenerative diseases from the partner project NeurOmics ( and other diseases from other projects, including BBMRI-LPC ( RD-Connect will also support the European Reference Networks, which will deposit their data in the GPA Platform. RD-Connect is free and open for contributions:

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