News

Neuromuscular junction and animal models

New publication: TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

Lochmüller Lab Members Published as Authors in Nature Communications Study: TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.

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Lochmüller Lab hosts information session on clinical research for FSHD

On Saturday June 11th the Lochmüller Lab were delighted to welcome individuals and families living with FSHD and members of the FSHD Society to the CHEO Research Institute for an information session on clinical research in FSHD.

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May 2022 Issue of the Journal of Neuromuscular Diseases Available Online

Volume 9, Issue 3 of the journal of neuromuscular diseases is now available online, with almost half of the publications being open access!

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CHEO Registers Tenth Patient in AMO Reach CDM Clinical Trial

As of March 14th, 2022 our site at CHEO has registered its 10th participant for AMO’s REACH-CDM trial.

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Canadian Neuromuscular Disease Registry Launches New Congenital Myasthenic Syndrome Registry

We’re delighted to announce that a new registry for patients with congenital myasthenic syndrome (CMS) has just been launched within the Canadian Neuromuscular Disease Registry (CNDR).  This new initiative is led by Dr. Hanns Lochmüller as an academic study as a part of Dr. Lochmüller’s CIHR foundation grant for CMS research, and supported by the NMD4C. CMS are a diverse group…

Lochmuller Lab at the Rideau Canal, group picture.

Lochmüller Lab Visits World’s Longest Skating Rink

This February the Lochmüller Lab took a break from the research benches at the CHEO RI to visit the Rideau Canal Skateway. A UNESCO world heritage site, the Rideau Canal Skateway is a 7.8 km long skating path that winds its way through downtown Ottawa and provides a beautiful way to explore the city during the winter.

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January 2022 Issue of the Journal of Neuromuscular Diseases Available Online

Volume 9, Issue 1 of the journal of neuromuscular diseases is now available online, with almost half of the publications being open access!

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Happy Holidays from the Lochmüller Lab

The Lochmüller Lab would like to wish everyone a happy holidays full of good cheer! The lab members have been hard at work over the last week to spread holiday cheer, and have found creative ways to get into the festive spirit..

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Jarred Lau Successful in Master’s Defense

The Lochmüller Lab would like to congratulate Master’s student Jarred Lau on successfully defending his thesis this month! Jarred’s thesis looked at unsolved patients with congenital myasthenic syndromes (CMS), a rare inherited neuromuscular disease caused by disrupted signal transmission at the neuromuscular junction (NMJ).

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Dr. Hanns Lochmüller Receives the Dr. George Karpati Award for Researcher of the Year

Dr. Hanns Lochmüller is the recipient of Muscular Dystrophy Canada’s Dr. George Karpati Award for Researcher of the Year! This prestigious award is presented annually to an exemplary neuromuscular clinician or researcher who has made a significant contribution to neuromuscular research, or the advancement of care of people with neuromuscular disorders. 

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Dr. Hanns Lochmüller, NMD4C and MDC named co-investigators on two CIHR grants awarded for research into oculopharyngeal muscular dystrophy – led by Dr C Gagnon – and into the Indirect Socio-Economic Burden of Inherited Neuromuscular Diseases – led by Dr J Warman

The Lochmüller Lab is happy to share that project applications ‘A comprehensive study of the natural history of OPMD: An essential step towards clinical trial readiness and evidence-based interventions’ and ‘BIND Study: Assessing the Indirect Socio-Economic Burden of Inherited Neuromuscular Diseases’ have been awarded Canadian Institute of Health Research (CIHR) research grants in their recent round of funding decisions!

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Lochmüller Lab Welcomes New Students

Our lab is growing! We are excited to introduce two new students who have joined the Lochmüller Lab this fall.   Kelly Ho Kelly has joined as a Master’s student in Cellular and Molecular Medicine to study the effects of forskolin and salbutamol in a mouse model for congenital myasthenic syndrome (CMS). She recently graduated…

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Latest Issue of the Journal of Neuromuscular Diseases Now Available – July 2021

The Journal of Neuromuscular Diseases (JND) has announced the publication of a new issue of the journal! Volume 8, Issue 4 of the JND contains a record number 30 items comprised of research articles, meeting reports and open access reviews and is now available online.

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Meet the Lochmüller Lab Clinical Team

Meet the Lochmüller Lab Clinical Research Team! As a part of the Lochmüller Lab, the clinical research team consists of four members who help run and support the lab’s clinical work, which includes both adult and pediatric trials, patient registries, and natural history studies.

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Special issue of the Journal of Neuromuscular Diseases is devoted to the Treatabolome, designed to shorten diagnosis-to-treatment time for patients with rare diseases

In 2019 the Treatabolome initiative was launched as part of the European Solve-RD project. Designed to extract details of effective treatments for rare diseases from the scientific literature and make them accessible through an online database, the Treatabolome will allow patients to receive the right treatment for their condition as soon as they receive a genetic diagnosis. This month, a special open-access issue of the Journal of Neuromuscular Diseases dedicated to the Treatabolome has been published.

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ProDGNE: Research Project to Develop an Innovative Therapeutic Compound to Treat GNE Myopathy

The Lochmüller Lab is proud to share its involvement in ProDGNE , a three-year transnational pre-clinical research project which aims to develop an innovative therapeutic compound to treat GNE Myopathy (GNEM), an ultra rare muscle disease affecting young adults. ProDGNE represents a unique collaboration among patients and European and Canadian scientists who are experts in clinical GNEM, sialic acid, organic synthesis, and -OMIC technologies.