Grant: Doctoral Research Award - PA - Bioinformatics and Computational Biology

Neurodevelopmental disorders affect one in ten children in Canada and can cause problems with learning, movement, and behaviour. A gene called SETD2 is very important for brain development, and genetic mutations in this gene can lead to serious childhood conditions. Some children with SETD2 mutations have brains that grow too much, while others have brains that do not grow enough; but we still do not fully understand how SETD2 disrupts brain development. In this project, we will grow small "mini-brains" in the lab, called cerebral organoids, to model how these mutations may affect how the human brain develops. We will compare normal organoids to those with SETD2 mutations to see how they grow and what types of neuronal and non-neuronal cells they make. Early results show that organoids with SETD2 mutations are smaller, form abnormal structures, and do not make brain cells in the usual way. By studying these mini-brains in detail, we hope to discover how SETD2 mutations cause developmental problems. This knowledge could one day help improve genetic testing and guide new treatments for children with these disorders.