News
Celebrating Lab Members’ Recent Research Awards
We are proud to celebrate Kelly Ho for receiving first place for her poster presentation at this year’s American Society for Pharmacology and Experimental Therapeutics (ASPET) annual meeting, as well as Katerina Palacek and Josh Zeldin for being awarded summer studentships!
Meet The Lochmüller Lab’s Newest Members!
Our research team is growing! We are excited to introduce three new members who have recently joined the Lochmüller lab and several students who will be working with us this summer.
New Clinical Study Examines Safety and Efficacy of IV Onasemnogene Abeparvovec in Broad SMA Cohort
Pediatric neurologist Dr Hugh McMillan published a clinical study examining the safety and efficacy of IV onasemnogene abeparvovec in the broadest cohort of SMA patients to date.
Solve-RD flagship publication in Nature Medicine: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
This flagship Solve-RD study shows that even after a decade of diagnostic exome sequencing, new interpretations remain possible.
New Lab Publication Identifies Novel ATP2A2 Variant as Genetic Cause of Dominant Rhabdomyolysis
The identification of this novel variant advances the understanding of autosomal dominant rhabdomyolysis and provides real-world impact through a diagnostic conclusion for three generations of affected individuals across three unrelated families included in the study.
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.
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.
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 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.