News

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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...
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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...
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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...
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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,...
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Double PhD Viva Success

We are thrilled to announce the success of two of Hanns's UK students. Grace McMacken and Rachel Thompson defended their PhD work this week and will be awarded PhDs from Newcastle University following submission of minor corrections. Both have attained their PhDs by published work, Grace on "Congenital Myasthenic Syndromes...
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New publication: The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

We were pleased to be part of this collaborative effort spearheaded by Pedro M. Rodrıguez Cruz and David Beeson to characterize the mutational and clinical spectrum of congenital myasthenic syndromes (CMS) associated with mutations in COL13A1. This study, which spanned multiple countries, provides a detailed description of the clinical features...
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Lochmüller Lab in the annual Cycle for CHEO

On May 5th, Lochmüller lab & Friends completed the annual Cycle for CHEO ride in Ottawa. They rode as part of a 45 strong CHEO Researchers in Motion Team that together raised more than $11,000. The local police and over 500 volunteers helped with road closures and support throughout the...
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Support the Lochmüller Lab in the annual Cycle for CHEO ride!

On May 5th, Lochmüller Lab team members and friends are participating in the annual CN Cycle for CHEO bike ride to raise funds to ensure that CHEO remains a leader in creating better treatment options and finding new cures so that more kids survive cancer. We want to raise awareness...
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New publication: quality of life of patients with SMA: a systematic review

Quality of life (QoL) is an important measure to help understand the clinical implications of a disease and inform optimum medical management, as well as to facilitate economic evaluations of new health technologies. As new therapies for spinal muscular atrophy (SMA) enter the market, it is increasingly important to establish...
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Event: NDF’s 6th Annual Symposium on GNE Myopathy

The Neuromuscular Disease Foundation’s 6th annual symposium and patient day on GNE Myopathy will take place in Philadelphia, USA on Saturday May 4th 2019 from 9:00 am. The venue is the Philadelphia Airport Marriott. This event provides patients and families with a full day of updates on GNE research and...
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New Publication: Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome

While we know some drug treatments can help patients with disruption of the neuromuscular junction (NMJ) we do not always know why they work. Determining the mechanism or indeed mechanisms of action of a successful treatment may help us develop even more effective drugs though increasing specificity or reducing side...
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New publication: CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

A group of investigators from the Sant Joan de Deu hospital in Barcelona (Carrera, Natera and Nascimento) led a comprehensive study looking at muscle outcomes for patients with defects in the gamma-subunit of the acetylcholine receptor. In humans, the gamma subunit is only expressed before birth and for a short time...
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New Publication: MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses

Determining the mechanism behind a disease causing gene is often very difficult, and yet it remains a key step in the translational pathway towards an effective therapy. That is why we were pleased to collaborate with the Burden Lab on this recent paper identifying the role of MACF1 at the...
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Conference Announcement

The speakers and dates for the 5th Ottawa International Conference on Neuromuscular Disease & Biology have been announced. The Conference will feature top international basic and clinical NMD researchers highlighting advances in NMD research and clinical care, including novel diagnostic techniques, disease pathogenesis, basic muscle and stem cell biology, and promising...
Participants at the 237th ENMC workshop on GNE myopathy

New publication: 237th ENMC international workshop: GNE myopathy – current and future research

In the 237th workshop convened by the European Neuromuscular Center (ENMC), clinical experts, researchers and patient representatives came together from around the world to discuss the latest findings and the way forward in research and care in GNE myopathy. The workshop was held in September 2018 and led by Drs Pogoryelova,...
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New publication: Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

We were really pleased to collaborate with the Dominov and Brown labs at the University of Massachusetts Medical School. This research discovered a novel pathogenic point mutation in a dysferlin intron, thus determining the genetic cause in a group of patients with limb girdle muscular dystrophy. In addition, through performing targeted...