News
New Publication: Gene-specific response to muscle specific kinase agonist antibody in the treatment of congenital myasthenic syndromes
Congenital myasthenic syndromes (CMS) are a group of rare inherited neuromuscular disorders. Although many forms of CMS appear similar clinically, the disease can be caused by mutations in more than 40 different genes — making accurate genetic diagnosis essential for guiding treatment decisions. A new study from Hanns Lochmüller, PhD student Kelly Ho and recent MSc graduate…
We are recruiting: Postdoctoral Fellow in Rare Disease Bioinformatics
The Polavarapu research group is recruiting a Postdoctoral Fellow in Rare Disease Bioinformatics. Working within a multidisciplinary and collaborative research environment, the postholder will provide computational and bioinformatic expertise to a team working on the integration of genomic, transcriptomic, proteomic, phenotypic, and publicly available datasets for variant interpretation, gene discovery, genotype–phenotype studies, and translational rare…
Oral Platform Presentation (Undergraduate) Category Winner!
We are thrilled to share that Katerina was the winner of Undergraduate Category for her presentation titled “Novel gene discovery in congenital myasthenic syndromes using optogenetic zebrafish models” at the 2026 annual Research Day of the Faculty of Medicine, University of Ottawa. For the second year in a row, Katerina impressed the Jury with her presentation skills and her knowledge…
Two Research Lab Members Receive CIHR Funding Awards!
We are excited to share that two of our research team members have received competitive funding awards from the Canadian Institutes of Health Research (CIHR) to support their projects.
Dr. Hanns Lochmüller’s Canada Research Chair Renewed Through 2032
Dr. Hanns Lochmüller’s Tier 1 Canada Research Chair (CRC) in Neuromuscular Genomics and Health has been renewed through the Tri-agency Institutional Programs Secretariat.
Dr. Kiran Polavarapu Appointed Scientist at the CHEO Research Institute
We are delighted to congratulate Dr. Kiran Polavarapu on his appointment as Scientist at the Children’s Hospital of Eastern Ontario Research Institute (CHEO RI).
Meet The Lab’s New Clinical Members!
Our research team is growing! We are excited to announce three new research staff who have joined the lab this winter, as well as two visiting physicians.
Dr. Hanns Lochmüller Awarded “Clinical Researcher of the Year” by University of Ottawa Faculty of Medicine
We are delighted to announce that Hanns is this year’s winner of the “Clinical Researcher of the Year” award conferred by the University of Ottawa Faculty of Medicine
New Publication: Galactose treatment rescues neuromuscular junction transmission in glutamine-fructose-6-phosphate transaminase 1 (Gfpt1) deficient mice
Stephen Holland and colleagues published a new study investigating galactose supplementation as a potential new treatment strategy for GFPT1-CMS.
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.
