2025 WCHRI Summer Student

Unlocking the mysteries of a rare neurodevelopmental disorder

Leenah Qureshi’s research is a step toward understanding a rare neurodevelopmental disorder called KBG syndrome. Her project explored how a specific gene, ANKRD11, affects brain development and function, particularly in the hippocampus, a brain region critical for learning and memory.

She used an animal model to study the effects of a mutation in the ANKRD11 gene, which is linked to KBG syndrome. By removing a copy of the gene from neural stem cells, she analyzed how this change impacts their ability to self-renew, survive and transform into neurons. Preliminary findings suggest that an early loss of the gene has a detrimental effect on brain development.

“Imagine the brain as a locked door. Behind it is the potential to learn and form memories, but this door doesn't open with just any key — it needs the right combination. For most of us, that combination is intact, the lock clicks open and the brain develops as it should. However, for patients with KBG syndrome, a critical part of the combination is altered.”

Goals:

• Study how neural stem cells behave when they are missing the ANKRD11 gene, specifically looking at their ability to renew themselves, survive, move to new places and turn into different types of brain cells.
• Find out if the ANKRD11 gene is a key factor in the creation of new brain cells in the hippocampus.
• Provide a foundation for future experiments to screen for drugs that could restore ANKRD11 function.

Potential impact: By uncovering the role of the ANKRD11 gene in brain development, this research could provide new insights into the causes of KBG syndrome and other neurodevelopmental disorders. This foundational knowledge may eventually lead to new drug screening methods and treatments to help children with these conditions.

Supervisor: Anastassia Voronova, associate professor, Department of Medical Genetics; WCHRI academic lead, Human Stem Cell Shared Resource Laboratory 

Funders: Stollery Children’s Hospital Foundation

Interested in doing research to improve the health of women and/or children? Read more about WCHRI’s training awards for students at all levels and generous grants for researchers.