News

New lab publication on riboflavin transporter deficiency model

New Publication: Development of a riboflavin-responsive model of riboflavin transporter deficiency in zebrafish

Our new collaborative study addresses the need for novel therapeutic strategies for RTD by developing a zebrafish model of riboflavin transporter deficiency for use in therapeutic screening of riboflavin and candidate therapeutics.

Congratulations CNMD Ottawa on 25 years of neuromuscular research. Photo of all former and current directors of the Centre.

uOttawa Eric Poulin Centre for Neuromuscular Disease Celebrates 25 Years of Neuromuscular Research

On November 25th the University of Ottawa Eric Poulin Centre for Neuromuscular Disease (CNMD) welcomed researchers, trainees and staff to celebrate the research centre’s 25th anniversary.

Clinical trial update - Canadian Patient First in the World to Receive Trial Drug in Argenx DOK7-CMS Study

Canadian Patient Dosed in Argenx DOK7-CMS Study

Our clinical research team at the NeuroMuscular centre of The Ottawa Hospital is excited to share that a Canadian patient affected by DOK-7 Congenital Myasthenic Syndrome (CMS) is the first patient world-wide to receive a dose of a novel trial medicine for this neuromuscular condition.

New lab publication - Brain malformations and seizures by impaired chaperonin function of TRiC

New Publication: Brain malformations and seizures by impaired chaperonin function of TRiC

This study uncovers critical genetic mutations linked to severe brain malformations, offering new hope for diagnosis and treatment for rare disease patients worldwide.

New leadership for the University of Ottawa Centre for Neuromuscular Disease, Drs Mireille Khacho and Hanns Lochmuller.

Drs Hanns Lochmüller and Mireille Khacho New Leaders of University of Ottawa Eric Poulin Centre for Neuromuscular Disease

Drs. Hanns Lochmüller and Mireille Khacho have been appointed as the new leaders of the uOttawa Eric Poulin Centre for Neuromuscular Disease (CNMD).

Dr Lola Lessard and Kelly Ho receive prestigious research poster awards

Lab Members Receive Research Poster Awards at National and International Conferences

Dr Lola Lessard and Kelly Ho recently received awards for research poster presentations at the Western Canadian Neuromuscular Conference and the World Muscle Society congress.

Clinical trial updates in FSHD

FSHD Clinical Trial Updates

Two clinical trial opportunities in FSHD at the Ottawa NeuroMuscular Centre now recruiting, FSHD community receive negative topline results from phase 3 losmapimod (REACH) trial.

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Dr. Lola Lessard Receives Postdoctoral Fellowship to study AMPK signaling in DM1

Dr. Lola Lessard has been awarded a one-year postdoctoral research fellowship from AFM-Téléthon to study AMP-activated protein kinase (AMPK) signaling in Type I Myotonic Dystrophy (DM1) as a potential therapeutic target.

Congratulations to the 2024 Lochmuller Lab graduates, Emily Freeman and Catherine Choueiri.

Congratulations to the Lab’s Recent Graduates!

Congratulations Dr. Emily Freeman and Catherine Choueiri on graduating from PhD and MSc programs at the University of Ottawa this past June!  

Congratulations Dr Hanns Lochmuller, Department of medicine researcher of the year 2024. Photo of Hanns and lab members receiving the award.

Dr. Hanns Lochmüller Awarded “Researcher of the Year” by University of Ottawa and The Ottawa Hospital Department of Medicine

We are delighted to announce that Hanns is this year’s winner of the Researcher of the Year award conferred by the University of Ottawa/The Ottawa Hospital Department of Medicine.

New Publication: Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects

New Publication: Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects 

In a new study, “Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects” published recently in the journal Neuromuscular Disorders, we identified a recurrent homozygous intronic variant in DES as causative in three previously unsolved limb-girdle CMS (LG-CMS) patients from India.

We are hiring a new clinical research coordinator!

Lochmüller Research Group Hiring Clinical Trial Coordinator

Due to recent funding success and expansion of our clinical trials team we have a need for a highly motivated Research Coordinator that will assist with research studies in children and adults with neuromuscular diseases.

First participant screened in global CMS natural history study

The Ottawa Neuromuscular Centre screens first participant in the world for a multinational congenital myasthenic syndrome natural history study

The neuromuscular centre at The Ottawa Hospital is excited to announce that we are the first site globally to screen a participant for the multinational Natural history study in participants with DOK7 congenital myasthenic syndromes (CMS), sponsored by Argenx.  

Copy of Lochmuller Lab - PhD opportunity (LLab)

Lochmüller Lab seeking PhD student

The Lochmüller Research Group are seeking a highly motivated PhD student to join our team. The project, part of the recently funded Brain-Heart Initiative at uOttawa, will involve working with advanced cell models to perform drug screens, biomarker studies, and mechanistic investigations into Myotonic Dystrophy Type 1 (DM1).

New Publication - Leading global expert in DMD and bone health Dr. Leanne Ward publishes systematic review and grading of evidence for biphosphonate therapy in glucocorticoid-treated patients with Duchenne Muscular Dystrophy in Neurology, with Dr. Hanns Lochmüller as a co-author.

New Publication: Bisphosphonates in Glucocorticoid-Treated Patients with Duchenne Muscular Dystrophy: A Systematic Review and Grading of the Evidence

Leading global expert in Duchenne Muscular Dystrophy (DMD) and bone health Dr. Leanne Ward publishes systematic review and grading of evidence for bisphosphonate therapy in glucocorticoid-treated patients with DMD in Neurology, with Dr. Hanns Lochmüller as a co-author. 

text reding new clinical trial opportunities

New Clinical Trial Opportunities for Children and Adults in Ottawa

Our clinical research team is excited to share five new clinical trials activated across both pediatric and adult sites in Ottawa