“Neurodevelopmental disorders affect millions of people worldwide and often involve difficulties in how the brain processes sensory information. Common features include hyper- or hypo-reactivity and impaired habituation—a fundamental learning process that filters out repetitive, irrelevant stimuli. These features can very strongly between individuals, even within the same disorder. This thesis investigates the genetic and biological mechanisms underlying sensory processing differences, with a focus on the fruit fly Drosophila melanogaster as a translational model. It demonstrates how fruit fly research can bridge fundamental neuroscience and clinical studies by integrating genetics, behavior, and human data.
In collaboration with clinical geneticists, this work identified a novel genetic cause of a neurodevelopmental disorder, supported by fruit fly experiments alongside other lines of evidence. The fly models recapitulate several behavioural abnormalities seen in patients, including altered sensory processing. In addition, a comprehensive literature review outlines genes and molecular pathways involved in habituation, highlighting conserved mechanisms and potential therapeutic targets. To better capture behavioural diversity, the experimental paradigm measuring sensory processing in flies was further refined. This approach showed that individual sensory processing phenotypes are stable across the lifespan, providing a foundation for future research into inter-individual variability in neurodevelopmental disorders. This thesis also emphasizes interactive science communication through the Brain HelpDesk (www.brainhelpdesk.nl), a platform where members of the public can ask brain-related questions and receive accessible, expert-written answers. It includes a scientific paper describing the establishment and operation of the helpdesk, as well as Marina’s contributions as both an author and editor of several answers.
Marina Boon studied Life Science and Technology and Behavioural and Cognitive Neuroscience at the University of Groningen, graduating cum laude. She started her PhD at the Radboudumc and the Donders Institute in 2020, where she conducted interdisciplinary research spanning neuroscience, genetics, behavior, and science communication. After completing her PhD, she aims to further develop her data analysis expertise and contribute to a healthier and more sustainable society.”