Supervisor: Ordan Lehmann
Project: The role of the FOXC1 gene in pediatric disease
Bachelor of Science General
How has your studentship helped you towards your career aspirations?
I wish to pursue a career in healthcare and research. This studentship has allowed me to consolidate both interests by gaining valuable experience working in a laboratory environment. It’s exciting to work alongside Dr. Lehmann, a clinician-scientist, and take on a project investigating a gene linked to Axenfeld-Rieger Syndrome, an eye disorder. It is very rewarding to work towards a project that can potentially explain the physical basis for a wide array of disorders. This studentship has furthered my interest in the health sciences and I am excited to continue to develop my proficiency in research and challenge myself with unfamiliar topics.
What has WCHRI's support through the Foundations for your studentship meant to you?
I have been able to learn more research techniques and had the opportunity to troubleshoot a tricky experimental procedure to expose the cilia that line the brain ventricles. I have also gained confidence in my presentation skills in lab meetings and I look forward to presenting my work in the upcoming WCHRI Research Day. I am incredibly grateful for WCHRI and the Stollery Children's Health Foundation for this funding opportunity.
The FOXC1 gene provides instructions for making a protein that binds to specific regions of DNA and regulates the activity of other genes. The Forkhead transcription factor FOXC1—which regulates genes in order to make sure that they are expressed in the right cell at the right time and in the right amount—plays an important role in embryonic development and disease. The disorders caused by FOXC1 mutation include Axenfeld-Reiger Syndrome (a pediatric eye disorder), pediatric stroke, congenital heart disease, breast cancer and many others. However, the mechanism remains unclear. There is evidence that alteration to the primary cilium, an essential organelle that functions as a satellite antenna, is linked between these seemingly different disorders. In addition, FOXC1 mutation disrupts planar cell polarity, a form of spatial organization along a plane of tissue. Simplistically, each cell receives a GPS signal that ensures it is correctly orientated relative to its neighbours. FOXC1 appears to influence this process and alter the precise position of the primary cilium, leading to impaired function in a range of organs. This summer, I will assess changes to planar cell polarity in the choroid plexus, a multi-ciliated structure in the brain ventricles. I will also determine whether this replicates what has already been identified in the cornea. This may potentially confirm a common mechanism for multiple pediatric disorders and identify targets for therapeutic intervention.