News
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…
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 NMDs in order to improve…
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 it more challenging to link…
New publication: Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder
How can we use phenotypic descriptions to aid genetic diagnosis starting with hundreds of rare variants from next-generation sequencing results? How comprehensively should a doctor annotate a patient’s phenotype to help identify the causative variant? These questions are increasingly relevant for doctors seeing undiagnosed patients, but data showing how phenotypic annotation can be used to…
Hanns Lochmüller is awarded prestigious Tier 1 Canada Research Chair in neuromuscular genomics and health
We are thrilled to announce that Hanns has been awarded a Canada Research Chair (CRC) in Neuromuscular Genomics and Health. The announcement was made at a ceremony at the University of Victoria at noon today. The prestigious Tier 1 CRC awards are for outstanding researchers acknowledged by their peers as world leaders in their fields.…
PhD Viva Success
We are delighted to announce the success of one of Hanns’s UK students. Emily O’Connor, jointly supervised by Hanns and Professor Clarke Slater, successfully defended her thesis work this week and will be awarded a PhD from Newcastle University following submission of minor corrections. Emily was awarded her PhD for her thesis entitled “The role…
New publication: “Be an ambassador for change that you would like to see”: a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease
The 2018 ENMC workshop on shared decision-making has resulted in a second valuable publication on the importance of co-creation in healthcare and medical research. In this new article by Ambrosini et al, workshop participants report on their discussions and conclusions on how to make all stakeholders, particularly the patients themselves, equal partners in the decisions…