News

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New Publication: Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome

While we know some drug treatments can help patients with disruption of the neuromuscular junction (NMJ) we do not always know why they work. Determining the mechanism or indeed mechanisms of action of a successful treatment may help us develop even more effective drugs though increasing specificity or reducing side...
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New publication: CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

A group of investigators from the Sant Joan de Deu hospital in Barcelona (Carrera, Natera and Nascimento) led a comprehensive study looking at muscle outcomes for patients with defects in the gamma-subunit of the acetylcholine receptor. In humans, the gamma subunit is only expressed before birth and for a short time...
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New Publication: MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses

Determining the mechanism behind a disease causing gene is often very difficult, and yet it remains a key step in the translational pathway towards an effective therapy. That is why we were pleased to collaborate with the Burden Lab on this recent paper identifying the role of MACF1 at the...
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Conference Announcement

The speakers and dates for the 5th Ottawa International Conference on Neuromuscular Disease & Biology have been announced. The Conference will feature top international basic and clinical NMD researchers highlighting advances in NMD research and clinical care, including novel diagnostic techniques, disease pathogenesis, basic muscle and stem cell biology, and promising...
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New publication: 237th ENMC international workshop: GNE myopathy – current and future research

In the 237th workshop convened by the European Neuromuscular Center (ENMC), clinical experts, researchers and patient representatives came together from around the world to discuss the latest findings and the way forward in research and care in GNE myopathy. The workshop was held in September 2018 and led by Drs Pogoryelova,...
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New publication: Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

We were really pleased to collaborate with the Dominov and Brown labs at the University of Massachusetts Medical School. This research discovered a novel pathogenic point mutation in a dysferlin intron, thus determining the genetic cause in a group of patients with limb girdle muscular dystrophy. In addition, through performing targeted...
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New publication: disease burden of myotonic dystrophy type 1

Nikoletta Nikolenko and Erik Landfeldt have published a new study on the impact of myotonic dystrophy type 1 (DM1) in the Journal of Neurology. They use a questionnaire-based method, the Individualized Neuromuscular Quality of Life Questionnaire (INQoL), to assess the burden of this condition on affected adults. The study provides further...
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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....
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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...
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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...
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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...
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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...