Research Projects

One of the fundamental questions in neurobiology focuses on how neural stem cells build the brain. Human patient and rodent studies indicate that brain structural anomalies occur before the onset of neurodevelopmental disorder symptoms. If we can identify how and when perturbations in neural stem cells lead to abnormal brain development as seen in patients with neurodevelopmental disorders, we could potentially harness this information for brain regeneration and/or preventative strategies. In our lab, we study the most de novo disrupted gene in monogenic neurodevelopmental disorders: Ankrd11 (Ankyrin Repeat Domain 11). Ankrd11 is a KBG syndrome and autism spectrum disorder risk gene. Patients with ANKRD11 mutations or deletions display aberrant brain development or function, atypical behaviour, cardiac insufficiencies and skeletal anomalies. We have several projects under this umbrella:

1) 'Determination of developmental time window when disruption of Ankrd11 perturbs brain development and function'

2) 'Role of Ankrd11 in myelination'

3) 'Role of Ankrd11 in sensory nervous system'

4) 'How the function of Ankrd11 can be rescued'

Please watch a video on our KBG syndrome research projects and vision here.

If you are interested in supporting our research on KBG syndrome, please visit this page.