Canadian Fragile X Investigators
Canada is home to an incredible network of researchers dedicated to advancing our understanding of Fragile X Syndrome and associated conditions. These investigators work tirelessly to uncover new insights, develop innovative treatments, and improve the quality of life for individuals and families. We are proud to showcase their groundbreaking efforts here, fostering connections and highlighting the critical role of science in shaping brighter futures.
Through our Canadian Fragile X Research Rounds, we bring together researchers, clinicians, and the community across the globe to share knowledge, spark collaboration, and drive progress. By highlighting these researchers, we aim to celebrate their contributions and inspire collective action in the fight against Fragile X Syndrome.
British Columbia I Alberta I Ontario I Quebec
The individuals featured here represent a growing community of dedicated researchers across Canada who are making significant strides in understanding and addressing Fragile X Syndrome. Their expertise spans diverse areas of study, from molecular biology to clinical care, reflecting the multidisciplinary approach needed to tackle the complexities of Fragile X.
As research evolves, so does our commitment to showcasing the incredible talent contributing to this field. We will continue to expand this list, celebrating the efforts of new investigators and fostering connections that inspire collaboration and innovation. Check back regularly to discover more about the remarkable people driving progress in Fragile X research
Over 60 Canadian researchers are driving groundbreaking advancements in Fragile X Syndrome. Together, we’re building a future of hope, innovation, and empowerment for families.
We are proud to showcase the incredible researchers across Canada who are dedicated to advancing understanding, care, and support for Fragile X Syndrome. This list is just the beginning of an ever-expanding network of brilliant minds and passionate individuals working to make a difference. As research evolves, so will this space, highlighting the diversity of expertise and collaboration that drives progress. We invite you to check back often as we continue to add to this inspiring group of investigators shaping the future of Fragile X research.
British Columbia Investigators
Brian Christie, MSc, PhD
Professor, Medical Sciences, University of Victoria
Dr. Christie’s area of expertise includes, hippocampus, learning and memory, developmental disorders, aging, sex differences, electrophysiology. His area of focus is on neuroplasticity in the developing and aging brain. Dr. Christie is a neuroscientist studying how the brains natural capacity for synaptic plasticity and neurogenesis can be harnessed to help alleviate neuropathologies associated with trauma, substance abuse, genetic disorders and the aging process. Donations to support this vital work can be made by clicking the following link and specifying you would like to support Dr. Christie.
Ethan Greenblatt, PhD
Assistant Professor, Biochemistry and Molecular Biology, Faculty of Medicine, University of British Columbia
Biology relies on quickly adapting to environmental and developmental cues. Large cells such as oocytes and neurons can rapidly alter their proteomes by activating translation when needed. A number of reproductive and neuronal disorders are caused by misregulated translation. By understanding how disease factors control translation at the molecular level, we aim to open a path towards therapeutics for autism and ovarian disorders.
We have developed a model system for studying translational control in its “purest” state in vivo using mature Drosophila oocytes. Mature oocytes are giant cells which are transcriptionally inactive and rely entirely on the translation of stored mRNAs. We study how oocytes control the translation of their stored mRNAs by (1) characterizing translation genome-wide using ribosome profiling and RNA sequencing in wild type and mutant backgrounds (2) identifying novel factors using genetic screens and cell-type specific perturbations, and (3) discovering roles for translation factors in development and aging by studying effects on oogenesis and early embryonic development.
Alberta Investigators
Francois Bolduc, MD, PhD FRCPC
Associate Professor, Faculty of Medicine & Dentistry, Paediatrics Dept, University of Alberta
My clinical practice and laboratory focus on understanding the genetic basis of memory and cognition. In the clinic we are consulted by children with developmental delay and mental retardation and identify genetic defects to draw phenotype-genotype correlation. Then, in the laboratory, we combine a forward and reverse genetic approach with the economy of scale of the Drosophila model system. Automation of well parametized olfactory classical conditioning allows us to study the molecular and genetic basis of long-term plasticity. Considering that the genetic components underlying this form of memory in Drosophila have proved to be evolutionarily conserved and also involved in several forms of human cognitive disorders, we will then translate the knowledge gained in the laboratory into novel therapeutic approach for the patients seen in the clinic. Finally, through collaboration with various health professionals, we hope to improve the clinical practice of pediatric neurogenetics and provide complete care to the children.
Ning Cheng, PhD
Assistant Professor, Faculty of Veterinary Medicine, University of Calgary
I completed PhD training in neuroscience at Johns Hopkins School of Medicine, with the main work published in the journal Nature. My postdoctoral work at NIH focused on neurological disorders. My group is investigating the mechanisms underlying neurodevelopmental disorders such as Fragile X Syndrome and autism in rodent models, and has developed experimental therapeutics that can reverse the disease-modeling phenotype. I am affiliated with the programs of Precision Medicine & Disease Mechanisms and Child Brain & Mental Health at ACHRI, and the priority areas of Neurodevelopment and Spinal Cord Nerve Injury and Pain (SCNIP) at HBI.
Ray W Turner, PhD
Professor, Neurophysiology, Cumming School of Medicine, University of Calgary
Neurophysiology of Ion Channels. We study the basis for neuronal excitability and long-term changes in the efficacy of synaptic transmission in mammalian cerebellum and hippocampus. Our work focuses on electrophysiology, imaging, and protein biochemistry to understand the physiological outcome of interactions between calcium channels and potassium channels. Work in cerebellum is now directed at the role of a calcium-potassium channel complex in dysfunction of synaptic plasticity in Fragile X Syndrome and the ability to restore function and reduce aberrant behaviours in a mouse model of Fragile X. Work in hippocampus is directed towards defining the members of a new tri-protein complex that allows different calcium sources to define the properties of one of the largest inhibitory responses in the brain.
Ontario Investigators
Angela Scott, PhD
Assistant Professor, Molecular and Cellular Biology, University of Guelph
Dr. Scott is a neurobiologist with a wide range of research training and expertise in the molecular and cellular relationships that govern development and neuroplasticity within the central nervous system. Specifically, her research focuses on the purinergic signalling system and the inter- and intra-cellular relationships of astrocytes and neurons that underlie neurological pathology associated with Fragile X syndrome.
David Hampson, PhD
Professor, Leslie Dan Faculty of Pharmacy, Department of Pharmacology & Toxicology, University of Toronto
Dr. Hampson studies the application of viral vector-mediated gene therapy to the neurodevelopmental disorders Fragile X Syndrome and Dravet Syndrome. Using biochemical and behavioural tests in animal models, the Hampson lab examines whether gene therapy is capable of reversing the phenotypic abnormalities associated with these disorders. His research includes elements of molecular biology, protein chemistry, neuroscience and neurology, drug delivery of viruses, and behavioral pharmacology.
Evdokia Anagnostou, MD
Senior Clinician Scientist, Professor, Department of Paediatrics, University of Toronto,
Research Chair (Tier II) in Translational Therapeutics in Autism
Dr. Anagnostou studies the different biologies (from genes to brain structure function, to omics), underlying neurodevelopmental conditions, how such differences predict symptom profiles and strengths and challenges, and how such insights can translate into novel interventions. She is the co-lead of the Autism Research Centre at Holland Bloorview Kids Rehabilitation Hospital with Dr. Jessica Brian, Co-director of the Bloorview Research Institute,, and holds the Dr. Stuart D. Sims Chair in Autism and the Canada Research Chair in Translational Therapeutics and Neurodevelopment.
Lu-Yang Wang, PhD, FCAHS
Senior Scientist, Neurosciences & Mental Health, Professor, Department of Physiology, University of Toronto
Research Chair (Tier I) in Brain Development & Disorders; Associate Chair, Department of Physiology
The Wang Lab has committed their research endeavors to: (A) unravel cellular and molecular mechanisms underlying neuronal excitability, synaptic function and morphology in the critical period of brain development; and (B) transform fundamental discoveries into innovative strategies for mitigating and curing brain disorders and diseases. By applying cutting-edge biophysical, computational and molecular approaches to identify novel molecular substrates and specific druggable targets using both mouse models and clinical data sets, they aim to establish roadmaps for developing new molecular medicine for potential clinical interventions of autism spectrum disorder, neonatal neurotoxicity, paediatric epilepsy and brain tumours
Quebec Investigators
Derek Bowie, PhD
Full Professor, Department of Pharmacology & Therapeutics, Associate member, Department of Physiology, Associate member, Department of Neurology & Neurosurgery, McGill University
The Bowie lab at McGill University holds a long term interest in understanding how nerve cells communicate with each other and how this communication can be disrupted in neurodevelopmental disorders, such as Fragile X syndrome (FXS). Ongoing research in the lab has uncovered new insights into the molecular pathways that are directly impacted in FXS using a mouse model of this condition. Importantly, this basic science insight has led the way to develop a novel therapeutic approach to treat FXS that is being pursued by Nospharma (nospharma.ca), a Canadian based Pharma company that focuses on rare neurological disorders.
Sarah Lippé, PhD
Full Professor, Neuropsychologist, Psychology Department, University of Montreal
Director, Neuroscience of Early Development Lab (NED), FRQ-S Senior Scientist, Sainte-Justine Hospital
Dr. Lippe is a clinical psychologist researcher. She was among the first to propose using EEG as a biomarker for autism and currently leads EEG phenotyping of two international FXS and autism clinical trials. She also conducted clinical trials of selective ERK pathway inhibitors in neurofibromatosis. Her scientific program includes translational research that benefits from human, mouse, and drosophila models.