Journal of Neuromuscular Diseases

Latest edition of the Journal of Neuromuscular Diseases now online – Sep 2020

A new issue of the Journal of Neuromuscular Diseases has recently been released: Volume 7, Issue 4 (Sep 2020)


Meet the lab’s three new members

Our lab is growing! We are excited to introduce 4 new members who have joined the Lochmüller lab this summer.


Treatabolome presentations now online

Within the European Solve-RD project, we participate in work to create a “treatabolome” – a database of evidence for treatments for rare disorders linked to the precise genetic defect. Many rare diseases do have treatments available, but frequently there is a substantial delay before patients affected by the disease receive the right treatment. By making…


New publications on neuromuscular transmission defects: international collaboration helps find answers

In rare diseases like the congenital myasthenic syndromes and other disorders of neuromuscular transmission, research results are frequently the result of international collaboration. Patients may be seen in clinic in one country, their DNA sequenced in another country, and the data analysed in a third, or researchers from multiple countries may come together to answer…

Journal of Neuromuscular Diseases

Latest edition of the Journal of Neuromuscular Diseases now online – Jun 2020

A new issue of the Journal of Neuromuscular Diseases has recently been released: Volume 7, Issue 3

Assembling face shields for the Children's Hospital of Eastern Ontario during the COVID-19 pandemic.

The Lochmüller Lab on Lockdown

While the pandemic is still not over in Canada, and Ontario’s state of emergency will not be lifted before the end of June at the earliest, preparations are underway at the CHEO Research Institute to allow some research to restart in a carefully phased process over the coming weeks and months. After three months of…


Awards success for Lochmüller Lab researchers

We are very pleased to announce the success of several Lochmüller Lab team members in recent fellowship and scholarship competitions. Master’s student Jarred Lau received a Scholarship in Translational Research (STaR) award from the Éric Poulin Centre for Neuromuscular Disease. Jarred is investigating novel genes and molecular mechanisms in congenital myasthenic syndromes, using exome analysis…


New publication: Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development

The neuromuscular field has seen rapid advances in recent years thanks to the increased use of next-generation sequencing and additional omics technologies like RNA sequencing and proteomics. Together with colleagues from Ottawa, Germany and the UK, we were delighted to write a new review for the Lancet Neurology in which we show how these new…

Journal of Neuromuscular Diseases

Latest edition of the Journal of Neuromuscular Diseases now online – Apr 2020

A new issue of the Journal of Neuromuscular Diseases has recently been released. Read it below: Journal of Neuromuscular Diseases: Volume 7, issue 2   *Hanns is joint editor in chief of the Journal of Neuromuscular Diseases, together with Carsten Bönnemann of the NIH National Institute of Neurological Disorders and Stroke.   Articles: Pseudoexons of…


On #RareDiseaseDay, ENMC launches white paper for shared decision making in NMD research

Two years ago, the European Neuromuscular Centre (ENMC) held a special meeting to explore the position of neuromuscular patients in Shared-Decision-Making (SDM) and develop recommendations. One of the most effective examples of patient involvement in the neuromuscular research field is the ENMC itself. Co-founded by a group of patient organisations and clinicians, the ENMC aims…


New pan-Canadian neuromuscular network unites doctors, researchers and patients for better research and care

In case you missed it! Exciting news for Canadian NMD networking. We’re excited to share news of the launch of our new pan-Canadian network on neuromuscular disease funded by CIHR and Muscular Dystrophy Canada. This is a great opportunity to develop better infrastructure for research, trials and care across Canada. Neuromuscular professionals should consider joining…


Good things come in 3s: New publications arising from EU funded collaborations on biomarker research and discovery

We are pleased to have been involved in this trio of papers examining biomarkers and genetic modifiers in Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). These studies were based on collaborative work under the BIO-NMD project led led by Alessandra Ferlini and funded by the European Union’s Seventh Framework Program from 2010-2012. Biomarkers…


Walk for Muscular Dystrophy Announce Dates and Times Across Canada

Muscular Dystrophy Canada (MDC) have announced the dates and times of their annual Walk for Muscular Dystrophy in more than 40 locations across Canada. Funds raised from these community events are used to support Canadians with neuromuscular diseases and their families. Last year millions of dollars was invested in equipment for patients, research, advocacy, education,…


New Publication: COL4A1-related autosomal recessive encephalopathy in 2 Turkish children

We are happy to have been involved with this paper presenting the neurological phenotypes of 2 Turkish brothers with a novel mutation. Through whole-exome sequencing and analysis using the RD-Connect Genome-Phenome Analysis Platform, we helped to identify a rare case of autosomal recessive inheritance of homozygous missense COL4A1 variants. Widening the clinical spectrum and defining…


New Publication: Activities of daily living in myotonic dystrophy type 1

Our new paper on activities of daily living in patients with myotonic dystrophy type 1 (DM1) is now available online at Acta Neurologica Scandinavica. We were pleased to work with collaborators from Stockholm, Newcastle, London, Glasgow, Maastricht, and Freiburg on this project, which formed part of the PhenoDM1 study (NCT02831504) and included data from 192…


New publication: De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure

We were pleased to collaborate with colleagues  in Germany on this case report describing a de novo variant in SCN4A resulting in a phenotype of general muscle stiffness, severe respiratory failure, and clubfoot. While infantile onset of symptoms due to SCN4A variants is rare, this patient presented shortly after birth. Drug treatment was able to…