I have always been fascinated by the incredible complexity of the human brain, which defines our identity and gives us uniquely human capabilities — and I want to find out how we can avoid the devastating consequences when something in our brain goes wrong.
My research focuses on genes involved in human brain development that contribute to rare neurodevelopmental diseases, as well as more common disorders like autism and intellectual disability. I am particularly interested in genes with human-specific features, found in highly duplicated regions of the genome. These genes were generated recently in hominid evolution, and may be responsible for the large size and complexity of the human neocortex, which gives us our cognitive capabilities. The duplications in human-specific regions make them highly unstable and prone to recombination, and deletions or duplications in these regions often result in neurodevelopmental disorders.
I aim to discover the function of particular genes in human brain development and disease by conducting CRISPR gene editing in human pluripotent stem cells, which I use to generate forebrain-type cortical organoids. I hope to better understand the function of human-specific genes, and the contribution of different genes to neurodevelopmental disorders. My work is part of a collaboration between Psychiatrists, Clinical Neuropsychologists, Geneticists and Neurobiologists at Radboud University, Leiden University and the University of Amsterdam. We hope that our combined efforts will enable us to generate new perspectives and insights into the mechanisms underlying neurodevelopmental disease, and to feed these insights back to directly benefit patients.