News

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

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...
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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...
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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...
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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...
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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)...
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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....
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New publication: Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 – A Prospective Observational Study

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...
Journal of Neuromuscular Diseases

Latest edition of the Journal of Neuromuscular Diseases now online

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...
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The power of diagnosis – watch “Yakup’s journey to hope”

A genetic diagnosis brings so much to families - and sometimes allows an effective treatment to be initiated. We are delighted that one of our joint projects is featured in this video created by the Global Alliance for Genomics and Health and European Joint Programme on Rare Diseases. In this initiative funded...
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New Publication: Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

We were pleased to collaborate with colleagues in the UK, India, Germany, and Spain on this brief communication reporting three additional families with congenital myasthenic syndrome (CMS) all harbouring the same homozygous missense variant in SLC25A1, confirming this as a CMS-associated gene. Interestingly the patients  with more severe mutations also...
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Conference Announcement: MITO2019 in Toronto 8-9th Nov

MITO2019 is the annual meeting for mitoNET and the MitoCanada Foundation and serves as the main education & networking event for mitoNET. This year it is being held at the Courtyard by Marriott Downtown hotel in Toronto. With a theme of “The Power of Mitochondria to transform human health”, it...
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A new arrival accompanied by a new publication

The Lochmüller lab is pleased to welcome Dr. Emily O'Connor to the group in Ottawa. Emily marked her arrival in the best possible way, with a new publication in the journal Cells, as part of their special issue entitled 150 Years of Motor Endplate: Molecules, Cells, and Relevance of a...
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New Publication: Analysis of the functional capacity outcome measures for myotonic dystrophy

Being able to accurately and reliably asses functional capacity in people with myotonic dystrophy type 1 (DM1) is paramount to monitor disease progression and assess the effects of therapeutic interventions. However, this can be problematic when patients have differing severities of symptoms, ages of onset, body compositions, and sex. For...
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Foundation grant success for the Lochmüller Lab!

We are thrilled to announce that our Foundation Grant application on Precision Health for Neuromuscular Diseases (NMD) has been funded in the Canadian Institute for Health Research's 2018 - 2019 competition. The overarching goal of our translational research program funded through this award is to understand the molecular pathogenesis of...
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New publication: De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany

Patients with long-term, complex conditions like neuromuscular diseases may receive diagnosis, care and treatment in several different centres, each of which then holds an individual piece of the patient's complete medical record.  These records must be kept confidential to protect the patient's privacy, but these important privacy restrictions also make...