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The Lochmüller Lab wins CIHR project award!

We are delighted to announce that our project on congenital myasthenic syndromes (CMS) has been funded in the Canadian Institute for Health Research's Fall 2018 project grant competition. Through this funding we will be working on improving the diagnosis and treatment of congenital myasthenic syndromes through gene identification, understanding molecular...
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New Publication: SMArtCARE – A platform to collect real-life outcome data of patients with spinal muscular atrophy

Our new collaborative publication on the development of a platform to collect real-life longitudinal data on patients with spinal muscular atrophy (SMA) is now available at the Orphanet Journal of Rare Diseases website (open access). This important European study led by Prof. Janbernd Kirschner demonstrates how long-term, real-life outcomes of patients under...
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RD-Connect webinars on data submission and analysis

The Lochmüller Lab submits genomic data to the RD-Connect Genome-Phenome Analysis Platform (GPAP) for diagnosis and gene discovery. This leading data sharing and analysis resource is also used by the European Solve-RD project for submission of data from the European Reference Networks for rare diseases. Solve-RD uses the RD-Connect Genome-Phenome Analysis...
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New Publication: Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C

Our recent publication on Neuromuscular Junction Changes in Charcot-Marie-Tooth Disease Type 4C (CMT4C) is now available online at the International Journal of Molecular Sciences (Open Access). In this paper we used a variety of techniques including immunofluorescence and proteomics to investigate muscle from a mouse model of CMT4C with the...
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New publication: A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

Our new publication on developing a nomenclature for the congenital myasthenic syndromes is now available online at the Orphanet Journal of Rare Diseases website. In this paper we worked with CMS experts to classify the individual CMS types as a foundation for their use in computer-based diagnostic and decision-support systems...
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New publication on the latest expansion of the human phenotype ontology

We are delighted to have played a role in this new paper on the continued development and expansion of the human phenotype ontology. This comprehensive and interoperable vocabulary of phenotypic terms has become the global standard for annotating phenotypic features in rare disease. The new publication describes the ways the...
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New publication: GNE myopathy in the Bedouin population of Kuwait: Genetics, prevalence, and clinical description

Introduction: GNE myopathy is a rare recessive myopathy caused by mutations in the GNE gene. It is mainly a distal myopathy with relative sparing of the quadriceps muscle. Methods: Patients with distal myopathies from Kuwait were examined and tested for the Middle Eastern GNE gene founder mutation, p.M743T. Patients were...
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Latest edition of the Journal of Neuromuscular Diseases now online

The latest edition of the Journal of Neuromuscular Diseases (JND) is available online at the IOS Press website. This edition features open-access articles on new therapeutic targets for centronuclear myopathies, new developments in mdx mouse models, and pulmonary function in DMD, as well as a range of original research articles...
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Become a member of the RD-Connect Community

RD-Connect, the European rare disease infrastructure project initiated by Hanns Lochmüller in 2012, has launched a new initiative to take it forward as a permanent resource beyond the initial EU funding period. The new RD-Connect Community is an independent, not-for-profit, international association of individuals and organizations sharing the vision of building an open...