Supervisor: Anastassia Voronova
Project: Contribution of abnormal white matter development to neurodevelopmental KGB syndrome
Master of Science in Medical Genetics
Why did you choose this program?
I have always been interested in genetics and throughout my undergraduate degree I worked in many different genetic labs. My favourite labs and projects were the ones involving genetic disease, specifically genetics diseases/disorders affecting children. This type of research really spoke to me, as I enjoyed the translational aspect and the potential impact this type of research has on improving children's quality of life.
What was it like to continue your research project when much of the country was in a lockdown or faced major restrictions?
I was very lucky in that my lab had a large collection of unanalyzed data that I was able to work with during the first few months of my summer research term. Once the lockdown was lifted and we were able to return to the lab, I was able to continue in the collection of replicates and analyzing my data.
What's been the best part of your experience so far?
For me, the best part of this summer research experience has been the development of a fairly new project in the lab analyzing the impact of Ankrd11 mutations on oligodendrogenesis in an animal model of KBG syndrome. I have been lucky to be able to see the data grow and develop into an impactful conclusion, which will hopefully lead to more research into KBG syndrome.
What interested you in the summer studentship program?
I have always loved being in the lab and being directly involved with research. This program offered me a great chance to stay in the lab over the summer and start researching a rare genetic disorder affecting children.
What has the support from WCHRI and the Stollery Children's Hospital Foundation meant to you?
I am very grateful for the support from WCHRI and the Stollery Children's Hospital Foundation as it has allowed me to pursue my passion and aid in cutting edge research into an understudied disease. Without this support we would not be as effective in our investigation into this disease.
Ankyrin repeat domain 11 (Ankrd11) functions as a chromatin remodeler. Chromatin is the condensed structure of genomic DNA that impacts global gene expression, which in turn regulates cell and organism function. Mutations in the Ankrd11 gene lead to KBG syndrome, which is a rare neurodevelopmental disorder that has been diagnosed in approximately 475 children worldwide. KBG syndrome patients have disrupted brain development, which affects both grey matter (nerve cells) and white matter (oligodendrocytes). Patients also display global developmental delay, autism and intellectual disability.
Our lab has shown that Ankrd11 regulates formation of nerve cells during embryonic development. However, the role of Ankrd11 in oligodendrocyte (white matter) development is currently not known. This is an important question to address because oligodendrocytes are required for efficient neural (or nerve) communication and can be targeted pharmacologically to restore proper cognition and behaviour.
This project will determine the role of Ankrd11 in oligodendrocyte development from neural stem cells. To do this, we will use a KBG syndrome animal model, where we will remove Ankrd11 specifically in neural stem cells after birth, a developmental period when oligodendrocytes are generated. The results of this project will offer better counselling to affected families and may inspire novel therapies for KBG syndrome and other similar neurodevelopmental disorders.