News
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…
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…
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 have been proven in clinical…
Latest edition of the Journal of Neuromuscular Diseases now online – Nov 2019
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 Diseases: Volume 6, issue 4…
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 jointly by the UK MRC…
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 demonstrated mitochondrial abnormalities, while the…
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 aims to present the latest…
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 Model Synapse. This new study,…
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 these reasons, the international ‘outcome…