Maddie Dee
2025 WCHRI Summer Student
What if we could stop brain disorders before they start?
Maddie Dee’s summer research aimed to understand how defects in fat metabolism within cells can lead to intellectual disabilities in children. Her work focuses on Zellweger spectrum disorders (ZSD), a group of rare genetic conditions caused by problems with peroxisomes — tiny cellular factories that produce and process essential fat molecules.
She investigated how defects in certain genes (called peroxin or PEX genes) affect both peroxisomes and another fat-storing part of the cell called lipid droplets. She used fruit flies as a model to study this process in the developing brain. Her work aims to uncover how these cellular malfunctions lead to conditions like ZSD and associated intellectual disabilities.
“I have discovered that fruit flies are a highly informative and cost-effective model for studying human health and disease. Biologically, the basic processes that occur inside human cells also occur in fruit fly cells, including the cells of the developing brain. This makes them very useful to investigate specific aspects of human diseases at a much simpler level.”
Goals:
- Examine how PEX mutations affect cell growth in the developing brain of fruit flies.
- Understand how these mutations impact fat storage and processing within different brain cell types.
- Contribute to a better understanding of how problems with peroxisomes and lipid droplets impact brain development and lead to intellectual disability.
Potential impact: Her research could inform new treatments to supply missing molecular building blocks to the right organs at the right time, ensuring healthy child development. It could also lead to new therapies for children with Zellweger spectrum disorders.
Supervisor: Andrew Simmonds, professor and chair, Department of Cell Biology
Funder: 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.
