Lochmüller Lab

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...

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...

A new issue of the Journal of Neuromuscular Diseases has recently been released. Read it below: Journal of Neuromuscular Diseases: Volume 7, issue 3 (click to view it at the journal website) *Hanns is joint editor-in-chief of the Journal of Neuromuscular Diseases, together with Carsten Bönnemann of the NIH National...

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...

We are very pleased to announce the success of several Lochmüller Lab team members in recent fellowship and scholarship competitions. Jarred Lau 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...

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...

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...

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...

Network lead Dr Hanns Lochmüller 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...

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...

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...

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...

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)...

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....

We are pleased to have been involved in this new publication showing that the SMA drug nusinersen also benefits adults with 5q spinal muscular atrophy. Although the drug has received regulatory approval without age restrictions, many countries restrict reimbursement to paediatric patients, where the benefits are often more substantial and...

A new issue of the Journal of Neuromuscular Diseases has recently been released. It features a number of open-access reviews on cardiac magnetic resonance in muscular dystrophies and axonal transport defects in inherited neuropathies, and a comprehensive review of dog models for neuromuscular disease. Read it below: Journal of Neuromuscular...