News

Marina_Dusl

New publication: Congenital myasthenic syndrome caused by novel COL13A1 mutations

We recently contributed to this important research detailing the discovery of novel COL13A1 mutations (p.Tyr216*, p.Glu543fs and p.Thr629fs) in patients from Spain, Portugal and Germany with congenital myasthenic syndrome (CMS). This work, led by Marina Dusl and Jan Senderek in Munich, Germany, describes six patients from three unrelated families with symptoms similar...
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New publication: health-related quality of life in myotonic dystrophy type 1 – a systematic review

Our new systematic review by Landfeldt et al on health-related quality of life in myotonic dystrophy type 1 (DM1) is now available online. DM1 is the most common muscular dystrophy in adults. It is a multisystem disorder that may have a wide range of complications that affect quality of life....
Shared decision-making

New publication on shared decision-making puts the patient perspective front and centre

How do we ensure patients are involved in neuromuscular research right from its earliest stages? Shared decision-making (SDM), in which doctors and patients jointly decide on treatment or care, has emerged as a gold standard model of healthcare. Within neuromuscular research, obtaining the patient perspective on matters such as research...
GNE biopsy

New publication: GNE genotype explains 20% of phenotypic variability in GNE myopathy

A lack of genotype-phenotype correlations in many neuromuscular disorders can make it difficult for doctors to manage diseases and give advice on prognosis and disease trajectory to patients. In addition, it may hinder clinical research. Our most recent paper by Pogoryelova et al, a systematic review and meta-analysis, examines this...
Image of neuromuscular junction showing genes and treatments for CMS

New publication: Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome

Our new publication by Thompson et al on the treatments available for the congenital myasthenic syndromes (CMS) and the development of a "treatabolome" to improve the accessibility of information on treatable rare diseases is now available online. In this publication we look into ways we can improve access to the important...
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New Publication: A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy

Our most recent paper reporting on a phase 3 international multi-center study (13 sites across 7 countries) to evaluate extended-release sialic acid as a therapy option for GNE myopathy is now available to read online. Dr Lochmüller led an international group of investigators in a phase 3 clinical trial sponsored by...
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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...
RD-Connect GPAP logo

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...
Authors of HPO NAR paper

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...
Front cover of the Journal of Neuromuscular Diseases

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...