Lochmüller Lab members gather for a group photo at the Ottawa NMD poster session.

Lochmüller Lab at Ottawa NMD 2023

Ottawa NMD 2023 was well-attended by Lochmüller Lab members, with many of our trainees and lab members presenting abstracts during the poster sessions.

Figure from CMS study showing frequency of CMS-causing genes.

New Publication: Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort

New publication from Kiran Polavarapu and Hanns Lochmüller identifying and genetically characterising the largest-ever Indian cohort of congenital myasthenic syndrome patients published in BRAIN: a journal of neurology.

The ProdGNE consortium posing in front of building.

Europe comes to Canada as Lochmüller Lab hosts the annual meeting of the ProDGNE consortium

This August we welcomed our international colleagues of the ProDGNE consortium to Ottawa as we hosted the annual meeting the three-year transnational pre-clinical research project. 


New Publication: Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects

Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects is now available in BRAIN: a journal of neurology. The publication is authored by associated scientist Andreas Roos together with Kaela O’Connor and Hanns Lochmüller. 


NMD4C Receives Network Grant from CIHR-IMHA and Funding from MDC

We are excited to share that The Neuromuscular Disease Network for Canada (NMD4C) has received a network grant from the Canadian Institutes of Health Research – Institute of Musculoskeletal Health and Arthritis (CIHR-IMHA), providing funding of $200 000 per year for five years – with matched funding from Muscular Dystrophy Canada (MDC) –  to strengthen the care,…

Congratulations to the four funding award recipients!

Four Research Lab Members Receive Funding Awards

We are excited to share that four of our research team members have received competitive funding awards to support their projects. We are proud of all our talented and dedicated team members and delighted to share details of the successful awards here.

Welcome to the team - new members of the Lochmuller Lab

Meet the lab’s new clinical members

Our lab is growing! We are excited to introduce several new research staff members who have joined the Lochmüller lab this winter.


$109 million to fund Brain-Heart Interconnectome project to study brain-heart disorders

The CHEO Research Institute (CHEO RI) and the Lochmüller research group is excited to participate in a new initiative funded by the Canada First Research Excellence Fund (CFREF) to establish a first-of-its-kind multidisciplinary program dedicated to the research of brain-heart conditions to lead a paradigm shift in the study, prevention, diagnosis and treatment of these conditions that will benefit patients in Canada and around the world.


8.8 million euros for accelerated drug repurposing for rare neurological disorders

CHEO RI has received funding to participate in a multi-million Euro consortium established under the EU’s ‘Horizon Europe’ funding stream to accelerate therapeutic development for patients in Canada and around the world with neuromuscular diseases.

The new clinical trials list provides searchable and filterable information on the current trials the research team are conducting.

Lochmuller Lab clinical research webpage update

With a new searchable list of the ongoing clinical trials at our sites in Ottawa, it’s now easier than ever to stay up-to-date on the clinical research trials that our team is involved in.

Periostin paper image

New publication: Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1

This collaborative international study identifies periostin as a novel biomarker candidate for Myotonic dystrophy type 1 (DM1) and suggests that it may serve as a novel stratification biomarker for DM1 with clinical and pathophysiological relevance, correlating with disease severity, presence of cardiac malfunction, and fibrosis.

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.

Sally describes lab research to FSHD visitors

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.


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!


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.


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…