Supervisor: Anastassia Voronova
Project: The role of brain blood vessel development in KBG syndrome
Bachelor of Science with Honors in Molecular Genetics
What's been the best part of your experience so far?
Being able to optimize a method of labeling blood vessels which allows us to easily visualize the entire blood vessel network of the brain using a microscope. The procedure is delicate, so it was a great experience to succeed and to bring a new experimental method into the lab.
How has your studentship helped you towards your career aspirations?
I am interested in pursuing a graduate degree in genetics, focusing on rare genetic disorders. Studying KBG syndrome during this studentship provided me with experience in this field and helped me understand the process and the challenges involved in studying rare disorders. As well, I’ve learned how to design an experiment, overcome challenges, and how to ask new questions from the results I obtained—all skills I’ll need for my graduate projects.
KBG syndrome is a rare neurodevelopmental disorder characterized by distinctive facial features, short stature, global developmental delay, and intellectual disability. “KBG” represents the surname initials of the first families diagnosed with the disorder. It is caused by a mutation in a gene called ANKRD11, which we hypothesize is responsible for regulating gene expression in the neural crest, an embryonic tissue that will become the peripheral nervous system, cardiovascular system and the skull. My project focuses on finding if mutations in ANKRD11 dysregulate the formation of the brain vascular system during development using an animal model. Brain blood vessels release signals that control the development of other types of brain cells, such as neurons. If the brain blood vessels are improperly formed, it may cause abnormal brain development and contribute to impaired brain function. I will inject a chemical compound that emits light when excited, which is called fluorescent labeling, to visualize whole-brain blood vessel development. I will use cell-type specific staining of developing brain tissue to detect anomalies in the number and location of cells of the brain and blood vessels. This project will help our lab understand how a mutation in a single gene translates into the symptoms seen in KBG patients, which will help us better understand how to help children with the disorder.