Deciphering mechanisms of altered neurodevelopment in BAF complex intellectual disability disorders

Intellectual developmental disorder (IDD) is a common condition. We still have a poor understanding of how mutations affect brain development and learning and I propose to contribute to that understanding by studying one of the most common causes of IDD: mutations in a group of genes called the BAF complex.

I will perform detailed clinical studies in patients to investigate associated health problems they may have, and I will try to identify markers in blood or saliva that can help predict outcomes. I will use stem cell models which can be transformed into brain cells, and cells derived from patients to study the function of these genes in early brain development.

This study will not only contribute to our clinical understanding of disease but also generate models for future research into therapies.