Professor

Brian Ciruna

Molecular Genetics

PhD

Location
SickKids - Peter Gilgan Centre for Research and Learning
Address
686 Bay Street, 15-9712, Toronto, Ontario Canada M5G 0A4
Research Interests
Cell biology, CRISPR-Cas9 and genome engineering, Developmental biology, Disease models, Functional genomics and systems biology, Gene regulation and expression, Genome analysis and sequencing, Neurodegeneration and neurodevelopment, Immunology, Imaging and microscopy, Rare diseases, Signalling, Zebrafish

Dr. Ciruna's research program combines experimental embryology with powerful genetic and live imaging technologies using zebrafish to understand molecular and genetic mechanisms that orchestrate normal development (especially brain and spinal cord formation) and, when defective, cause birth defects and paediatric disease.

A current focus of the Ciruna Lab is to identify the underlying causes of adolescent idiopathic scoliosis (AIS) - a remarkably prevalent paediatric disorder characterized by rotational deformity of the spine. Unlike congenital or neuromuscular forms of scoliosis, which arise from vertebral anomalies or neuromuscular deficiencies respectively, AIS develops in the absence of other obvious physiological defects. 80% of human scoliosis is deemed ‘idiopathic’, a staggering 4% of children will develop AIS, and 1 in 10 patients (predominantly female) experience severe curve progression often requiring physical or surgical intervention.

In pioneering work, the Ciruna lab generated and characterized the first zebrafish models of AIS, providing fundamental new insights into the pathogenesis of disease. Surprisingly, their research implicates ancient and enigmatic CNS organ systems and irregularities in cerebrospinal fluid (CSF) homeostasis in abnormal spine development. They also discovered that downstream of CSF defects, activation of pro-inflammatory and oxidative stress signals within the CNS ultimately drive spinal curvature and that immuno-modulating therapies can significantly reduce the incidence and severity of scoliosis in zebrafish models.

Dr. Ciruna and his team continue to define specific molecular and biological mechanisms underlying spinal curve progression, interrogate the possible link between neuroinflammation and human AIS, and identify novel targets for therapeutic intervention.

Courses taught

  • JDB1025

Awards

  • Canada Research Chair (Tier 1) in Developmental Genetics and Disease Modelling
  • Vice President - The International Consortium for Spinal Genetics, Development and Disease (ICSGDD)

Cross-affiliations

  • Senior Scientist, Program in Developmental & Stem Cell Biology, The Hospital for Sick Children

Look for Dr. Ciruna on Temerty Medicine Connect