News
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…
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 and the Therapeutic Modulation of…
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 associated with this particular type…
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 course, which ran through downtown…
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 and funds for cancer research,…
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 measures of QoL in the…
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 care, including up-to-the-minute information and…
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 effects. Here we show that…
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 afterwards. Biallelic loss-of-function mutations are…
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 neuromuscular junction (NMJ). Previous research…
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 therapies to treat these devastating…
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, Argov, Urtizberea, Nishino and Lochmüller.…
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 exon skipping we were able…
New publication: disease burden of myotonic dystrophy type 1
Nikoletta Nikolenko and Erik Landfeldt have published a new study on the impact of myotonic dystrophy type 1 (DM1) in the Journal of Neurology. They use a questionnaire-based method, the Individualized Neuromuscular Quality of Life Questionnaire (INQoL), to assess the burden of this condition on affected adults. The study provides further evidence of the wide range…
New publication: Congenital myasthenic syndrome caused by novel COL13A1 mutations
We recently contributed to this important research detailing the discovery of novel COL13A1 mutations (p.Tyr216*, p.Glu543fs and p.Thr629fs) in patients from Spain, Portugal and Germany with congenital myasthenic syndrome (CMS). This work, led by Marina Dusl and Jan Senderek in Munich, Germany, describes six patients from three unrelated families with symptoms similar to previously described CMS patients…
New publication: health-related quality of life in myotonic dystrophy type 1 – a systematic review
Our new systematic review by Landfeldt et al on health-related quality of life in myotonic dystrophy type 1 (DM1) is now available online. DM1 is the most common muscular dystrophy in adults. It is a multisystem disorder that may have a wide range of complications that affect quality of life. In this systematic review we…