News
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.
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).
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.
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.
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 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!
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
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.
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.
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.
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: 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.
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
Dr. Andreas Roos wins Emerging Myologist of the Year Prize at WMS 2023
We are excited to congratulate Dr. Andreas Roos on winning the World Muscle Society’s (WMS) President’s Prize for Emerging Myologist of the Year!
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.
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.