Meet the team
Leadership and lab management
Hanns Lochmüller
Professor Hanns Lochmüller is a neurologist and clinical academic specializing in genetic neuromuscular disorders and rare disease. He is Senior Scientist at the Children’s Hospital of Eastern Ontario (CHEO) Research Institute and Professor of Neurology in the University of Ottawa Faculty of Medicine and the Department of Medicine, Division of Neurology at The Ottawa Hospital.
Hugh McMillan
Dr. McMillan is a Pediatric Neurologist with specialization in Clinical Neurophysiology and Neuromuscular medicine at the Children’s Hospital of Eastern Ontario. He is a Professor in the Department of Pediatrics, Faculty of Medicine at the University of Ottawa.
Sally Spendiff
Sally is a Research Associate in the Lochmüller lab, where she leads the basic research team. A senior postdoctoral researcher with experience in Canada and the UK, Sally joined Hanns soon after his appointment in Ottawa and is overseeing the lab setup and expansion.
Heather Howley
Heather is the Director of Precision Health Analytics, advising Hanns and the broader team on funding avenues, research development, academic writing, and grantsmanship. She completed her MS in 2000 and since 2018, has helped secure $8M in peer-reviewed funding for the Lochmüller Lab.
Daniel O’Neil
Daniel holds a BSc in Biochemistry and a MSc in Neuroscience from the University of Ottawa. He joined the Lochmüller Lab as Research Technician in February 2021.
Jarred Lau
Jarred is a Research Assistant in the Lochmuller Lab, developing optogenetic zebrafish models for GNE myopathy and CMS. Jarred is also working to streamline a high throughput workflow using zebrafish for the validation of novel genes and therapeutics for neuromuscular disorders.
Ricardo Carmona
Ricardo successfully completed his MSc in Biomedical Sciences within the Cancer & Development program at Memorial University, and holds experience in animal handling, and protocol & force script optimization. As a research technician, he is thrilled to be a part of the lab and helping to conduct research on rare neuromuscular disorders
Postdoctoral fellows
Emily Freeman
Emily is a Post-Doctoral fellow in the Lochmüller Lab, where she hopes to use patient-derived stem cells to discover new drug therapies for myotonic dystrophy. Emily completed her PhD from the University of Ottawa under the supervision of Dr. Kyle Cowan at the Children’s Hospital of Eastern Ontario. Here she discovered a sex-dependant role for the small molecule channel Pannexin 1 in healthy skeletal muscle and found it to be a novel therapeutic target for Duchenne muscular dystrophy.
Kiran Polavarapu
Kiran completed his PhD in 2019 at the National Institute of Mental Health and Neurosciences (NIMHANS) in India. His PhD work involved developing next generation sequencing (NGS)-based tests for detection of both copy number variations and point mutations in Duchenne Muscular Dystrophy. He recently joined the Lochmüller Lab as a postdoctoral fellow.
Rachel Thompson
Rachel completed her PhD at Newcastle University in the UK, where she was involved in the coordination of the RD-Connect data sharing and analysis platform. She is a postdoctoral fellow in the Lochmüller Lab with a research interest in the use of data integration methods for medical genomics and precision medicine in neuromuscular diseases.
Romane Idoux
Romane Idoux completed her PhD in 2022 at the NeuroMyoGene Institute in Lyon (France). Romane is interested in fundamental research on rare neuromuscular disorders, and has joined the Lochmüller Lab to start a new research project.
Students
Alexa Derksen
Alexa is an MD/PhD student at the University of Ottawa who will be completing the PhD portion of her degree in the Lochmüller lab, investigating GNE myopathy where she hopes to incorporate both clinical and basic science approaches in her project.
Catherine Choueiri
Catherine began her Master’s program in Cellular and Molecular Medicine with a specialization in Human and Molecular Genetics. She is working under the supervision of Dr. Lochmüller to create a zebrafish model for riboflavin transporter deficiency to be used in therapeutic screening.
Kaela O’Connor
Kaela, a recent MSc graduate, is a PhD student in the Lochmüller lab investigating novel causative genes in congenital myasthenic syndromes. She looks forward to blending bioinformatic and wet lab techniques to identify causative mutations and determine their pathomechanism.
Malaichamy Sivasankar
Malaichamy Sivasankar is enrolled as a PhD student in Cellular and Molecular Medicine at the University of Ottawa under the supervision of Dr. Lochmüller, where he is elated to research on exploring novel genes and mechanisms implicated in undiagnosed neuromuscular disorders.
Ofosu Adjei-Afriyie
Ofosu Adjei-Afriyie is a Master’s student in Translational and Molecular Medicine. Ofosu’s research is focused on insulin resistance in Myotonic Dystrophy Type 1 (DM1).
Stephen Holland
Stephen has joined the Lochmüller Lab for his PhD, having completed an MSc degree looking at post-translational modifications affecting pannexin 1 protein channels in neuroblastoma.
Clinical research
Amanda Yaworski
Dr. Yaworski is a pediatric neurologist with specialization in clinical neurophysiology and neuromuscular medicine at the Children’s Hospital of Eastern Ontario (CHEO) and Assistant Professor in the Department of Pediatrics, Faculty of Medicine at the University of Ottawa.
Emilie Hill-Smith
Emilie is a Research Coordinator at the CHEO RI. She currently coordinates various neuromuscular disease trials for Dr. Lochmüller.
Isabelle Fisette-Paulhus
In October 2019, Isabelle started to work as a clinical evaluator for the various neuromuscular disease trials with Dr. Hanns Lochmüller at CHEO and The Ottawa Hospital. In February 2022, she joined The Ottawa Hospital as a clinical research coordinator.
Jenna Gurniak
Jenna Gurniak is a Clinical Administrative Assistant for the division of Neurology at The Ottawa Hospital, managing Dr. Lochmüller’s adult neuromuscular clinic at the Civic Hospital.
Jessica MacGregor
Jessica MacGregor is a Certified Clinical Research Professional (CCRP) and works as a Clinical Research Coordinator at the Ottawa Hospital Research Institute (OHRI) in Ottawa, ON.
Laura Thompson
In September 2020 Laura joined the CHEO RI as a research coordinator in Neurology. She currently coordinates neuromuscular disease trials with Dr. Hugh McMillan and Dr. Hanns Lochmuller.
Marc-Olivier Deguise
Marc-Olivier Deguise is currently a pediatric resident physician at Children’s Hospital of Eastern Ontario and has been involved with the SMA community through a research lens for the past eight years. He recently joined Dr. Lochmüller’s Lab to contribute to the clinical research aspect of the research program.
Ozge Aksel-Kilicarslan
Ozge earned her MD degree from Ege University in 2011 and completed her Medical Genetics residency in 2016 at Dokuz Eylul University. After working as a staff clinical geneticist in Turkey, she joined Dr. Lochmuller’s team as a research associate in October 2022.
Sydney Zakutney
Sydney is a research assistant with the Lochmüller Lab’s clinical research team. Prior to this role she completed a summer internship at the Ottawa Neuromuscular Center in 2023.
Networking
Erin Beattie
Erin is the Network Manager for NMD4C, the neuromuscular disease network for Canada. She graduated with a BSc in microbiology & immunology and an MSc in pharmacology from Dalhousie University, and a PhD in laboratory medicine & pathobiology from the University of Toronto.
James Davis
James Davis is the Communications Coordinator for the Neuromuscular Disease Network for Canada (NMD4C) led by Dr. Lochmüller. James holds a Masters Degree in Human Kinetics, and brings experience in network creation from his past work building and facilitating a sport safety network across Canada.
Associated/visiting scientists
Andreas Roos
Andreas Roos is Scientific Officer in the Department of Neuropediatrics of University Hospital Essen in Germany. Thanks to his longstanding collaboration with Hanns and the Lochmüller Lab team, he now holds an adjunct professorship at the University of Ottawa and is a visiting member of the lab.
Cynthia Gagnon
Cynthia Gagnon is a professor at the School of Rehabilitation at the University of Sherbrooke and a researcher at the Centre de recherche Charles-Le Moyne-Saguenay-Lac-St-Jean sur les innovations en santé. For 2020 she holds a visiting professorship with the University of Ottawa. Her work aims at improving clinical care and speeding up trial readiness in the most prevalent neuromuscular diseases in Canada.